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Resume Objectif Fournir, aux professionnels de la sante des domaines de l'obstetrique et de la genetique, des lignes directrices et des recommandations en ce qui a trait au depistage / diagnostic prenatal et a la prise en charge obstetricale du dysraphisme spinal ouvert / ferme (DSOF) chez le fœtus. Options La presente analyse englobe les techniques de depistage / diagnostic prenatal qui sont actuellement utilisees aux fins de la detection du DSOF, y compris le depistage des concentrations seriques en alphafoetoproteines chez la mere, l'echographie, l'imagerie par resonance magnetique visant le fœtus et l'amniocentese. Issues Ameliorer le depistage / diagnostic prenatal et la prise en charge obstetricale du DSOF, tout en prenant en consideration les soins offerts a la patiente, l'efficacite, les couts et les interventions de soins. Resultats La litterature publiee a ete recuperee par l'intermediaire de recherches menees dans PubMed ou MEDLINE, CINAHL et The Cochrane Library en novembre 2013 au moyen d'un vocabulaire controle et de mots cles appropries (p. ex. « prenatal screening », « congenital anomalies », « neural tube defects », « alpha-fetoprotein », « ultrasound scan », « magnetic resonance imaging »). Les resultats ont ete restreints aux analyses systematiques, aux essais comparatifs randomises / essais cliniques comparatifs et aux etudes observationnelles publies en anglais entre 1977 et 2012. Les recherches ont ete mises a jour de facon reguliere et ont ete integrees a la directive clinique jusqu'au 30 novembre 2013. La litterature grise (non publiee) a ete identifiee par l'intermediaire de recherches menees dans les sites Web d'organismes s'interessant a l'evaluation des technologies dans le domaine de la sante et d'organismes connexes, dans des collections de directives cliniques, dans des registres d'essais cliniques et aupres de societes de specialite medicale nationales et internationales. Une enquete en ligne menee aupres des praticiens de la sante a egalement fait l'objet d'une analyse. Valeurs La qualite des resultats est evaluee au moyen des criteres decrits dans le rapport du Groupe d'etude canadien sur les soins de sante preventifs (Tableau). Avantages, desavantages et couts La presente analyse permettra aux professionnels de la sante de mieux comprendre les methodes de depistage prenatal du DSOF dont nous disposons a l'heure actuelle, ainsi que les avantages et les risques qui sont associes a chacune de ces methodes, pour assurer la prise de decisions factuelles en ce qui concerne le depistage, le diagnostic et la prise en charge obstetricale du DSOF.

To provide updated information on the pre- and post-conception use of oral folic acid with or without a multivitamin/micronutrient supplement for the prevention of neural tube defects and other congenital anomalies. This will help physicians, midwives, nurses, and other health care workers to assist in the education of women about the proper use and dosage of folic acid/multivitamin supplementation before and during pregnancy.Published literature was retrieved through searches of PubMed, Medline, CINAHL, and the Cochrane Library in January 2011 using appropriate controlled vocabulary and key words (e.g., folic acid, prenatal multivitamins, folate sensitive birth defects, congenital anomaly risk reduction, pre-conception counselling). Results were restricted to systematic reviews, randomized control trials/controlled clinical trials, and observational studies published in English from 1985 and June 2014. Searches were updated on a regular basis and incorporated in the guideline to June 2014 Grey (unpublished) literature was identified through searching the websites of health technology assessment and health technology-related agencies, clinical practice guideline collections, clinical trial registries, and national and international medical specialty societies. Costs, risks, and benefits: The financial costs are those of daily vitamin supplementation and eating a healthy folate-enriched diet. The risks are of a reported association of dietary folic acid supplementation with fetal epigenetic modifications and with an increased likelihood of a twin pregnancy. These associations may require consideration before initiating folic acid supplementation. The benefit of folic acid oral supplementation or dietary folate intake combined with a multivitamin/micronutrient supplement is an associated decrease in neural tube defects and perhaps in other specific birth defects and obstetrical complications.The quality of evidence in the document was rated using the criteria described in the Report of the Canadian Task Force on Preventative Health Care (Table 1). Summary Statement In Canada multivitamin tablets with folic acid are usually available in 3 formats: regular over-the-counter multivitamins with 0.4 to 0.6 mg folic acid, prenatal over-the-counter multivitamins with 1.0 mg folic acid, and prescription multivitamins with 5.0 mg folic acid. (III) Recommendations 1. Women should be advised to maintain a healthy folate-rich diet; however, folic acid/multivitamin supplementation is needed to achieve the red blood cell folate levels associated with maximal protection against neural tube defect. (III-A) 2. All women in the reproductive age group (12-45 years of age) who have preserved fertility (a pregnancy is possible) should be advised about the benefits of folic acid in a multivitamin supplementation during medical wellness visits (birth control renewal, Pap testing, yearly gynaecological examination) whether or not a pregnancy is contemplated. Because so many pregnancies are unplanned, this applies to all women who may become pregnant. (III-A) 3. Folic acid supplementation is unlikely to mask vitamin B12 deficiency (pernicious anemia). Investigations (examination or laboratory) are not required prior to initiating folic acid supplementation for women with a risk for primary or recurrent neural tube or other folic acid-sensitive congenital anomalies who are considering a pregnancy. It is recommended that folic acid be taken in a multivitamin including 2.6 ug/day of vitamin B12 to mitigate even theoretical concerns. (II-2A) 4. Women at HIGH RISK, for whom a folic acid dose greater than 1 mg is indicated, taking a multivitamin tablet containing folic acid, should be advised to follow the product label and not to take more than 1 daily dose of the multivitamin supplement. Additional tablets containing only folic acid should be taken to achieve the desired dose. (II-2A) 5. Women with a LOW RISK for a neural tube defect or other folic acid-sensitive congenital anomaly and a male partner with low risk require a diet of folate-rich foods and a daily oral multivitamin supplement containing 0.4 mg folic acid for at least 2 to 3 months before conception, throughout the pregnancy, and for 4 to 6 weeks postpartum or as long as breast-feeding continues. (II-2A) 6. Women with a MODERATE RISK for a neural tube defect or other folic acid-sensitive congenital anomaly or a male partner with moderate risk require a diet of folate-rich foods and daily oral supplementation with a multivitamin containing 1.0 mg folic acid, beginning at least 3 months before conception. Women should continue this regime until 12 weeks' gestational age. (1-A) From 12 weeks' gestational age, continuing through the pregnancy, and for 4 to 6 weeks postpartum or as long as breast-feeding continues, continued daily supplementation should consist of a multivitamin with 0.4 to 1.0 mg folic acid. (II-2A) 7. Women with an increased or HIGH RISK for a neural tube defect, a male partner with a personal history of neural tube defect, or history of a previous neural tube defect pregnancy in either partner require a diet of folate-rich foods and a daily oral supplement with 4.0 mg folic acid for at least 3 months before conception and until 12 weeks' gestational age. From 12 weeks' gestational age, continuing throughout the pregnancy, and for 4 to 6 weeks postpartum or as long as breast-feeding continues, continued daily supplementation should consist of a multivitamin with 0.4 to 1.0 mg folic acid. (I-A). The same dietary and supplementation regime should be followed if either partner has had a previous pregnancy with a neural tube defect. (II-2A).

Resume Objectif Offrir aux medecins un survol des troubles genetiques courants qui devraient etre pris en consideration dans le cadre de l'examen gynecologique annuel d'une patiente, et ce, afin de determiner le risque que court celle-ci ou d'en venir a proceder a des examens particuliers ou a orienter la patiente vers un autre service de sous-specialite, en fonction de ses antecedents personnels ou familiaux. Options Ces renseignements d'ordre genetique peuvent etre utilises aux fins de la sensibilisation des patientes et du depistage ou du diagnostic de possibles maladies et/ou mutations. Issues L'utilisation de ces renseignements d'ordre genetique pourrait mener a l'amelioration de l'evaluation des risques et des avantages et a celle de la prise en charge dans le cadre de l'examen gynecologique annuel. Resultats Les etudes publiees en anglais, jusques et y compris en mai 2010, ont ete recuperees par l'intermediaire de recherches menees dans PubMed et la Cochrane Library au moyen d'un vocabulaire controle (« gynaecological diagnosis », « genetic inheritance ») et de mots cles (« genetic risk », « genetic mutation », « inheritance », « family history », « uterus », « ovary », « endometrial », « vagina », « colon », « gastric », « renal », « breast », « cardiac », « thrombophilia », « diabetes », « epilepsy », « leiomyomata uteri ») appropries. D'autres sources ont ete identifiees par l'intermediaire de recherches menees dans les sites Web d'organismes s'interessant a l'evaluation des technologies dans le domaine de la sante et d'organismes connexes, dans des collections de directives cliniques, dans des registres d'essais cliniques et aupres de societes de specialite medicale nationales et internationales. Valeurs Le niveau des resultats ne permet pas la formulation de recommandations factuelles. Avantages, desavantages et couts La presente opinion de comite ameliorera l'utilisation de nouvelles connaissances genetiques et leur application aux soins gynecologiques offerts annuellement aux femmes. Les occasions de gestion du risque et de diagnostic, pour ce qui est des troubles gynecologiques genetiques, s'en trouveront ameliorees. Une comprehension plus exhaustive des troubles genetiques pourrait entrainer une hausse de l'anxiete et du stress psychologique chez les femmes et les membres de leur famille. Commanditaire Societe des obstetriciens et gynecologues du Canada. Recommandations Le niveau des resultats ne permet pas la formulation de recommandations factuelles.

Objective To provide obstetrical and genetic health care practitioners with guidelines and recommendations for prenatal screening, diagnosis, and obstetrical management of fetal open and closed neural tube defects (OCNTD). Options This review includes prenatal screening and diagnostic techniques currently being used for the detection of OCNTD including maternal serum alpha fetoprotein screening, ultrasound, fetal magnetic resonance imaging, and amniocentesis. Outcomes To improve prenatal screening, diagnosis, and obstetrical management of OCNTD while taking into consideration patient care, efficacy, cost, and care procedures. Evidence Published literature was retrieved through searches of PubMed or MEDLINE, CINAHL, and The Cochrane Library in November, 2013, using appropriate controlled vocabulary and key words (e.g., prenatal screening, congenital anomalies, neural tube defects, alpha fetoprotein, ultrasound scan, magnetic resonance imaging). Results were restricted to systematic reviews, randomized control trials/controlled clinical trials, and observational studies published in English from 1977 to 2012. Searches were updated on a regular basis and incorporated in the guideline to November 30, 2013. Grey (unpublished) literature was identified through searching the websites of health technology assessment and health technology-related agencies, clinical practice guideline collections, clinical trial registries, and national and international medical specialty societies. An online survey of health care practitioners was also reviewed. Values The quality of evidence in this document was rated using the criteria described in the Report of the Canadian Task Force on Preventive Health Care (Table). Benefits, harms, and costs This review will provide health care practitioners with a better understanding of the available prenatal screening methods for OCNTD and the benefits and risks associated with each technique to allow evidenced-based decisions on OCNTD screening, diagnosis, and obstetrical management.

Objective To review the risk of in utero infection through prenatal invasive procedures in women with hepatitis B, hepatitis C, and/or human immunodeficiency virus (HIV) infections. Outcomes Fetal and neonatal morbidity and mortality. Evidence Published literature was retrieved through searches of Medline, CINAHL, and the Cochrane Library using appropriate controlled vocabulary (amniocentesis, chorionic villus sampling, cordocentesis, fetal and neonatal infection) and key words (hepatitis B, hepatitis C, HIV). Results were restricted to systematic reviews, randomized control trials/controlled clinical trials, and observational studies from 2002 to 2012 published in English or French. (Studies from 1966 to 2002 were previously reviewed in Clinical Practice Guideline No. 123.) Searches were updated on a regular basis and incorporated in the guideline to February 2014. Grey (unpublished) literature was identified through searching the websites of health technology assessment and health technology-related agencies, clinical practice guideline collections, clinical trial registries, and national and international medical specialty societies. Values The quality of evidence in this document was rated using the criteria described in the Report of the Canadian Task Force on Preventive Health Care (Table).

Objective To describe the current investigation and management of non-immune fetal hydrops, with a focus on treatable or recurring etiologies. Outcomes To provide better counselling and management in cases of prenatally diagnosed non-immune hydrops. Evidence Published literature was retrieved through searches of PubMed or MEDLINE, CINAHL, and The Cochrane Library in 2011 using key words (non-immune hydrops fetalis, fetal hydrops, fetal therapy, fetal metabolism). Results were restricted to systematic reviews, randomized controlled trials/controlled clinical trials, observational studies, and significant case reports. Additional publications were identified from the bibliographies of these articles. There were no date or language restrictions. Searches were updated on a regular basis and incorporated in the guideline to May 2012. Grey (unpublished) literature was identified through searching the websites of health technology assessment and health technology-related agencies, clinical practice guideline collections, clinical trial registries, and national and international medical specialty societies. Benefits, harms, and costs These guidelines educate readers about the causes of non-immune fetal hydrops and its prenatal counselling and management. It also provides a standardized approach to non-immune fetal hydrops, emphasizing the search for prenatally treatable conditions and recurrent genetic etiologies. Values The quality of evidence in this document was rated using the criteria described in the Report of the Canadian Task Force on Preventive Health Care (Table 1).

This document has been developed to aid clinicians in counselling patients about prenatal screening and to provide assistance in counselling about both positive and negative screening results.

Objective To provide the physician with an overview of common genetic conditions that should be considered during a women's annual gynaecological assessment to determine the patient's risk or to initiate specific testing or referral to another subspecialty service, depending on personal or family history. Options This genetic information can be used for patient education and possible disease and/or mutation screening or diagnosis. Outcomes The use of this genetic information may allow improved risk-benefit assessment and management at the annual gynaecological examination. Evidence Studies published in English up to and including May 2010 were retrieved through searches of PubMed and the Cochrane Library, using appropriate controlled vocabulary (gynaecological diagnosis, genetic inheritance) and key words (genetic risk, genetic mutation, inheritance, family history, uterus, ovary, endometrial, vagina, colon, gastric, renal, breast, cardiac, thrombophilia, diabetes, epilepsy, leiomyomata uteri). Other literature sources were identified through searching the web sites of health technology assessment and health technology assessment-related agencies, clinical practice guideline collections, clinical trial registries, and national and international medical specialty societies. Values The levels of evidence are not adequate for evidence-based recommendations to be made. Benefits, harms, and costs This committee opinion will enhance the use of new genetic knowledge and its application to the annual gynaecological care of women. Risk management and diagnostic opportunities for genetic gynaecological conditions will be improved. A more complete understanding of genetic conditions may increase anxiety and psychological stress for women and their families. Sponsors Society of Obstetricians and Gynaecologists of Canada.

To provide an overview of delayed child-bearing and to describe the implications for women and health care providers.Delayed child-bearing, which has increased greatly in recent decades, is associated with an increased risk of infertility, pregnancy complications, and adverse pregnancy outcome. This guideline provides information that will optimize the counselling and care of Canadian women with respect to their reproductive choices.Maternal age is the most important determinant of fertility, and obstetric and perinatal risks increase with maternal age. Many women are unaware of the success rates or limitations of assisted reproductive technology and of the increased medical risks of delayed child-bearing, including multiple births, preterm delivery, stillbirth, and Caesarean section. This guideline provides a framework to address these issues.Studies published between 2000 and August 2010 were retrieved through searches of PubMed and the Cochrane Library using appropriate key words (delayed child-bearing, deferred pregnancy, maternal age, assisted reproductive technology, infertility, and multiple births) and MeSH terms (maternal age, reproductive behaviour, fertility). The Internet was also searched using similar key words, and national and international medical specialty societies were searched for clinical practice guidelines and position statements. Data were extracted based on the aims, sample, authors, year, and results.The quality of evidence was rated using the criteria described in the Report of the Canadian Task Force on Preventive Health Care (Table 1).The Society of Obstetricians and Gynaecologists of Canada. RECOMMENDATIONS 1. Women who delay child-bearing are at increased risk of infertility. Prospective parents, especially women, should know that their fecundity and fertility begin to decline significantly after 32 years of age. Prospective parents should know that assisted reproductive technologies cannot guarantee a live birth or completely compensate for age-related decline in fertility. (II-2A) 2. A fertility evaluation should be initiated after 6 months of unprotected intercourse without conception in women 35 to 37 years of age, and earlier in women37 years of age. (II-2A) 3. Prospective parents should be informed that semen quality and male fertility deteriorate with advancing age and that the risk of genetic disorders in offspring increases. (II-2A) 4. Women ≥ 35 years of age should be offered screening for fetal aneuploidy and undergo a detailed second trimester ultrasound examination to look for significant fetal birth defects (particularly cardiac defects). (II-1A) 5. Delayed child-bearing is associated with increased obstetrical and perinatal complications. Care providers need to be aware of these complications and adjust obstetrical management protocols to ensure optimal maternal and perinatal outcomes. (II-2A) 6. All adults of reproductive age should be aware of the obstetrical and perinatal risks of advanced maternal age so they can make informed decisions about the timing of child-bearing. (II-2A) 7. Strategies to improve informed decision-making by prospective parents should be designed, implemented, and evaluated. These strategies should provide opportunity for adults to understand the potential medical, social, and economic consequences of child-bearing throughout the reproductive years. (III-B) 8. Barriers to healthy reproduction, including workplace policies, should be reviewed to optimize the likelihood of healthy pregnancies. (III-C).

Objective To summarize for obstetrical care providers the current literature on array genomic hybridization in prenatal diagnosis and to outline the recommendations of the Canadian College of Medical Geneticists regarding the use of this new technology with respect to prenatal diagnosis. Evidence PubMed and Medline were searched for articles published in English between 2004 and 2010, using the key words DNA QF-PCR, quantitative fluorescent polymerase chain reaction, fetal chromosomal abnormalities, prenatal diagnosis, array genomic hybridization, fetal structural anomalies, and copy number variants Results were restricted to systematic reviews, randomized control trials/controlled clinical trials, and observational studies. Searches were updated on a regular basis, and articles were incorporated in the guideline to September 2011. Grey (unpublished) literature was identified through searching the websites of health technology assessment and health technology assessment-related agencies, clinical practice guideline collections, clinical trial registries, and national and international medical specialty societies. Values The quality of evidence in this document was rated using the criteria described in the Report of the Canadian Task Force on Preventive Health Care (Table 1). Recommendations 1.Array genomic hybridization is not recommended in pregnancies at low risk for a structural chromosomal abnormality; for example, advanced maternal age, positive maternal serum screen, previous trisomy, or the presence of "soft markers" on fetal ultrasound. (III-D) 2.Array genomic hybridization may be an appropriate diagnostic test in cases with fetal structural abnormalities detected on ultrasound or fetal magnetic resonance imaging; it could be done in lieu of a karyotype if rapid aneuploidy screening is negative and an appropriate turnaround time for results is assured. (II-2A) 3.Any pregnant woman who qualifies for microarray genomic hybridization testing should be seen in consultation by a medical geneticist before testing so that the benefits, limitations, and possible outcomes of the analysis can be discussed in detail. The difficulties of interpreting some copy number variants should also be discussed. This will allow couples to make an informed decision about whether or not they wish to pursue such prenatal testing. (III-A)

Objective To review the information on fetal and perinatal autopsies, the process of obtaining consent, and the alternative informationgathering options following a prenatal diagnosis of nonchromosomal malformations, and to assist clinicians in providing postnatal counselling regarding fetal diagnosis and recurrence risks. Outcomes To provide better counselling about fetal and perinatal autopsies for women and families who are dealing with a prenatally diagnosed non-chromosomal fetal anomaly. Evidence Published literature was retrieved through searches of PubMed or Medline, CINAHL, and The Cochrane Library in 2009 and 2010, using appropriate key words (fetal autopsy, postmortem, autopsy, perinatal postmortem examination, autopsy protocol, postmortem magnetic resonance imaging, autopsy consent, tissue retention, autopsy evaluation). Results were restricted to systematic reviews, randomized controlled trials/controlled clinical trials, and observational studies. Additional publications were identified from the bibliographies of these articles. There were no date or language restrictions. Grey (unpublished) literature was identified through searching the websites of health technology assessment and health technology assessment-related agencies, clinical practice guideline collections, clinical trial registries, and national and international medical specialty societies. Benefits, harms, and costs This update educates readers about (1) the benefits of a fetal perinatal autopsy, (2) the consent process, and (3) the alternatives when the family declines autopsy. It also provides a standardized approach to fetal and perinatal autopsies, emphasizing pertinent additional sampling when indicated. Values The quality of evidence was rated using the criteria described in the Report of the Canadian Task Force on Preventive Health Care (Table 1).

To develop a Canadian consensus document on maternal screening for fetal aneuploidy (e.g., Down syndrome and trisomy 18) in singleton pregnancies.Pregnancy screening for fetal aneuploidy started in the mid 1960s, using maternal age as the screening test. New developments in maternal serum and ultrasound screening have made it possible to offer all pregnant patients a non-invasive screening test to assess their risk of having a fetus with aneuploidy to determine whether invasive prenatal diagnostic testing is necessary. This document reviews the options available for non-invasive screening and makes recommendations for Canadian patients and health care workers.To offer non-invasive screening for fetal aneuploidy (trisomy 13, 18, 21) to all pregnant women. Invasive prenatal diagnosis would be offered to women who screen above a set risk cut-off level on non-invasive screening or to pregnant women whose personal, obstetrical, or family history places them at increased risk. Currently available non-invasive screening options include maternal age combined with one of the following: (1) first trimester screening (nuchal translucency, maternal age, and maternal serum biochemical markers), (2) second trimester serum screening (maternal age and maternal serum biochemical markers), or (3) 2-step integrated screening, which includes first and second trimester serum screening with or without nuchal translucency (integrated prenatal screen, serum integrated prenatal screening, contingent, and sequential). These options are reviewed, and recommendations are made.Studies published between 1982 and 2009 were retrieved through searches of PubMed or Medline and CINAHL and the Cochrane Library, using appropriate controlled vocabulary and key words (aneuploidy, Down syndrome, trisomy, prenatal screening, genetic health risk, genetic health surveillance, prenatal diagnosis). Results were restricted to systematic reviews, randomized controlled trials, and relevant observational studies. There were no language restrictions. Searches were updated on a regular basis and incorporated in the guideline to August 2010. Grey (unpublished) literature was identified through searching the websites of health technology assessment and health technology assessment-related agencies, clinical practice guideline collections, clinical trial registries, and national and international medical specialty societies. The previous Society of Obstetricians and Gynaecologists of Canada guidelines regarding prenatal screening were also reviewed in developing this clinical practice guideline.The quality of evidence was rated using the criteria described in the Report of the Canadian Task Force on Preventive Health Care.This guideline is intended to reduce the number of prenatal invasive procedures done when maternal age is the only indication. This will have the benefit of reducing the numbers of normal pregnancies lost because of complications of invasive procedures. Any screening test has an inherent false-positive rate, which may result in undue anxiety. It is not possible at this time to undertake a detailed cost-benefit analysis of the implementation of this guideline, since this would require health surveillance and research and health resources not presently available; however, these factors need to be evaluated in a prospective approach by provincial and territorial initiatives. RECOMMENDATIONS 1. All pregnant women in Canada, regardless of age, should be offered, through an informed counselling process, the option of a prenatal screening test for the most common clinically significant fetal aneuploidies in addition to a second trimester ultrasound for dating, assessment of fetal anatomy, and detection of multiples. (I-A) 2. Counselling must be non-directive and must respect a woman's right to accept or decline any or all of the testing or options offered at any point in the process. (III-A) 3. Maternal age alone is a poor minimum standard for prenatal screening for aneuploidy, and it should not be used a basis for recommending invasive testing when non-invasive prenatal screening for aneuploidy is available. (II-2A) 4. Invasive prenatal diagnosis for cytogenetic analysis should not be performed without multiple marker screening results except for women who are at increased risk of fetal aneuploidy (a) because of ultrasound findings, (b) because the pregnancy was conceived by in vitro fertilization with intracytoplasmic sperm injection, or (c) because the woman or her partner has a history of a previous child or fetus with a chromosomal abnormality or is a carrier of a chromosome rearrangement that increases the risk of having a fetus with a chromosomal abnormality. (II-2E) 5. At minimum, any prenatal screen offered to Canadian women who present for care in the first trimester should have a detection rate of 75% with no more than a 3% false-positive rate. The performance of the screen should be substantiated by annual audit. (III-B) 6. The minimum standard for women presenting in the second trimester should be a screen that has a detection rate of 75% with no more than a 5% false-positive rate. The performance of the screen should be substantiated by annual audit. (III-B) 7. First trimester nuchal translucency should be interpreted for risk assessment only when measured by sonographers or sonologists trained and accredited for this service and when there is ongoing quality assurance (II-2A), and it should not be offered as a screen without biochemical markers in singleton pregnancies. (I-E) 8. Evaluation of the fetal nasal bone in the first trimester should not be incorporated as a screen unless it is performed by sonographers or sonologists trained and accredited for this service and there is ongoing quality assurance. (II-2E) 9. For women who undertake first trimester screening, second trimester serum alpha fetoprotein screening and/or ultrasound examination is recommended to screen for open neural tube defects. (II-1A) 10. Timely referral and access is critical for women and should be facilitated to ensure women are able to undergo the type of screening test they have chosen as first trimester screening. The first steps of integrated screening (with or without nuchal translucency), contingent, or sequential screening are performed in an early and relatively narrow time window. (II-1A) 11. Ultrasound dating should be performed if menstrual or conception dating is unreliable. For any abnormal serum screen calculated on the basis of menstrual dating, an ultrasound should be done to confirm gestational age. (II-1A) 12. The presence or absence of soft markers or anomalies in the 18- to 20-week ultrasound can be used to modify the a priori risk of aneuploidy established by age or prior screening. (II-2B) 13. Information such as gestational dating, maternal weight, ethnicity, insulin-dependent diabetes mellitus, and use of assisted reproduction technologies should be provided to the laboratory to improve accuracy of testing. (II-2A) 14. Health care providers should be aware of the screening modalities available in their province or territory. (III-B) 15. A reliable system needs to be in place ensuring timely reporting of results. (III-C) 16. Screening programs should be implemented with resources that support audited screening and diagnostic laboratory services, ultrasound, genetic counselling services, patient and health care provider education, and high quality diagnostic testing, as well as resources for administration, annual clinical audit, and data management. In addition, there must be the flexibility and funding to adjust the program to new technology and protocols. (II-3B).

Objective To provide a Canadian consensus document with recommendations on prenatal screening for and diagnosis of fetal aneuploidy (e.g., Down syndrome and trisomy 18) in twin pregnancies.

Resume Objectif Analyser la litterature portant sur l'utilisation de l'echographie diagnostique dans la prise en charge des grossesses gemellaires. Formuler des recommandations quant a la meilleure facon d'utiliser l'echographie dans les cas de grossesse gemellaire. Issues Baisse des taux de mortalite et de morbidite perinatales, ainsi que des taux de morbidite neonatale a court et a long terme, dans les cas de grossesse gemellaire. Optimisation du recours a l'echographie dans les cas de grossesse gemellaire. Resultats La litterature publiee a ete recuperee par l'intermediaire de recherches menees dans PubMed et The Cochrane Library, en 2008 et en 2009, au moyen d'un vocabulaire controle (p. ex. « twin », « ultrasound », « cervix », « prematurity ») et de mots cles (p. ex. « acardiac », « twin », « reversed arterial perfusion », « twin-to-twin transfusion syndrome », « amniotic fluid ») adequats. Les resultats ont ete restreints aux analyses systematiques, aux essais comparatifs randomises / essais cliniques comparatifs et aux etudes observationnelles. Aucune restriction n'a ete imposee en matiere de date. Les etudes ont ete restreintes a celles qui disposaient d'un resume ou d'un texte en francais ou en anglais. Les recherches ont ete mises a jour de facon reguliere et integrees a la directive clinique jusqu'en septembre 2009. La litterature grise (non publiee) a ete identifiee par l'intermediaire de recherches menees dans les sites Web d'organismes s'interessant a l'evaluation des technologies dans le domaine de la sante et d'organismes connexes, dans des collections de directives cliniques, dans des registres d'essais cliniques et aupres de societes de specialite medicale nationales et internationales. Valeurs Les donnees recueillies ont ete analysees par le comite d'imagerie diagnostique de la Societe des obstetriciens et gynecologues du Canada, avec l'apport des membres du comite de medecine fœto-maternelle et du comite de genetique de la SOGC. Les recommandations ont ete formulees conformement aux lignes directrices elaborees par le Groupe d'etude canadien sur les soins de sante preventifs (Tableau 1). Avantages, desavantages et couts La facilitation et l'optimisation du recours a l'echographie dans les cas de grossesse gemellaire constituent les avantages auxquels l'on s'attend de la presente directive clinique.

Objective To improve awareness and knowledge of problematic substance use in pregnancy and to provide evidence-based recommendations for the management of this challenging clinical issue for all health care providers Options This guideline reviews the use of screening tools, general approach to care, and recommendations for clinical management of problematic substance use in pregnancy. Outcomes Evidence-based recommendations for screening and management of problematic substance use during pregnancy and lactation. Evidence Medline, PubMed, CINAHL, and The Cochrane Library were searched for articles published from 1950 using the following key words: substance-related disorders, mass screening, pregnancy complications, pregnancy, prenatal care, cocaine, cannabis, methadone, opioid, tobacco, nicotine, solvents, hallucinogens, and amphetamines. Results were initially restricted to systematic reviews and randomized control trials/controlled clinical trials. A subsequent search for observational studies was also conducted because there are few RCTs in this field of study. Articles were restricted to human studies published in English Additional articles were located by hand searching through article reference lists. Searches were updated on a regular basis and incorporated in the guideline up to December 2009. Grey (unpublished) literature was also identified through searching the websites of health technology assessment and health technology assessment-related agencies, clinical practice guideline collections, clinical trial registries, and national and international medical specialty societies. Values The quality of evidence was rated using the criteria described in the Report of the Canadian Task Force on the Preventive Health Care Recommendations for practice were ranked according to the method described in that report (Table 1) Benefits, harms, and costs This guideline is intended to increase the knowledge and comfort level of health care providers caring for pregnant women who have substance use disorders Improved access to health care and assistance with appropriate addiction care leads to reduced health care costs and decreased maternal and neonatal morbidity and mortality. Recommendations 1. All pregnant women and women of childbearing age should be screened periodically for alcohol, tobacco, and prescription and illicit drug use. (III-A) 2. When testing for substance use is clinically indicated, urine drug screening is the preferred method. (II-2A) Informed consent should be obtained from the woman before maternal drug toxicology testing is ordered. (III-B) 3. Policies and legal requirements with respect to drug testing of newborns may vary by jurisdiction, and caregivers should be familiar with the regulations in their region. (III-A) 4. Health care providers should employ a flexible approach to the care of women who have substance use problems, and they should encourage the use of all available community resources. (II-2B) 5. Women should be counselled about the risks of periconception, antepartum, and postpartum drug use. (III-B) 6. Smoking cessation counselling should be considered as a first-line intervention for pregnant smokers. (I-A) Nicotine replacement therapy and/or pharmacotherapy can be considered if counselling is not successful. (I-A) 7. Methadone maintenance treatment should be standard of care for opioid-dependent women during pregnancy. (II-IA) Other slow-release opioid preparations may be considered if methadone is not available. (II-2B) 8. Opioid detoxification should be reserved for selected women because of the high risk of relapse to opioids. (II-2B) 9. Opiate-dependent women should be informed that neonates exposed to heroin, prescription opioids, methadone, or buprenorphine during pregnancy are monitored closely for symptoms and signs of neonatal withdrawal (neonatal abstinence syndrome). (II-2B) Hospitals providing obstetric care should develop a protocol for assessment and management of neonates exposed to opiates during pregnancy. (III-B) 10. Antenatal planning for intrapartum and postpartum analgesia may be offered for all women in consultation with appropriate health care providers. (III-B) 11. The risks and benefits of breastfeeding should be weighed on an individual basis because methadone maintenance therapy is not a contraindication to breastfeeding. (II-3B)

Resume Objectif Accroitre la sensibilisation a la consommation problematique de substances psychoactives pendant la grossesse et les connaissances a ce sujet, et formuler des recommandations factuelles pour la prise en charge de ce difficile probleme clinique a l'intention de tous les fournisseurs de soins de sante Options La presente directive clinique analyse l'utilisation d'outils de depistage, l'approche generale envers les soins et les recommandations pour la prise en charge clinique de la consommation problematique de substances psychoactives pendant la grossesse Issues Recommandations factuelles pour le depistage et la prise en charge de la consommation problematique de substances psychoactives pendant la grossesse et la lactation Resultats Des recherches ont ete menees dans Medline, PubMed, CINAHL et The Cochrane Library en vue d'en tirer les articles publies depuis 1950 au moyen des mots cles suivants : « substance-related disorders », « mass screening », « pregnancy complications », « pregnancy », « prenatal care », « cocaine », « cannabis », « methadone », « opioid », « tobacco », « nicotine », « solvents », « hallucinogens » et « amphetamines ».Les resultats ont ete restreints aux analyses systematiques et aux essais comparatifs randomises / essais cliniques comparatifs.Des recherches subsequentes visant les etudes observationnelles ont egalement ete menees en raison de la rarete des ECR dans ce domaine d'etude.Les articles ont ete restreints aux etudes menees chez l'homme publiees en anglais.Des articles additionnels ont ete identifies manuellement par l'analyse des listes de references des articles selectionnes.Les recherches ont ete mises a jour de facon reguliere et leurs resultats ont ete incorpores a la directive clinique jusqu'en decembre 2009.La litterature grise (non publiee) a ete identifiee par l'intermediaire de recherches menees dans les sites Web d'organismes s'interessant a l'evaluation des technologies dans le domaine de la sante et d'organismes connexes, dans des collections de directives cliniques, dans des registres d'essais cliniques et aupres de societes de specialite medicale nationales et internationales. Valeurs La qualite des resultats a ete evaluee au moyen des criteres decrits dans le rapport du Groupe d'etude canadien sur les soins de sante preventifs.Les recommandations visant la pratique ont ete classees conformement a la methode decrite dans ce rapport (Tableau 1). Avantages, desavantages et couts La presente directive clinique a pour but d'accroitre les connaissances et le degre d'aisance des fournisseurs de soins de sante aux femmes enceintes qui presentent des troubles lies a la consommation de substances psychoactives L'amelioration de l'acces aux soins de sante et a une aide pour l'obtention d'un traitement adequat de l'assuetude mene a une baisse des couts de sante et des taux maternels et neonatals de morbidite et de mortalite. Recommendations 1. Toutes les femmes enceintes et les femmes en âge de procreer devraient periodiquement faire l'objet d'un depistage de la consommation d'alcool, de tabac, de medicaments d'ordonnance et de drogues illicites. (III-A) 2. Lorsque le depistage de la consommation de substances psychoactives s'avere cliniquement indique, le depistage de drogue dans l'urine constitue la methode a privilegier. (II-2A) Le consentement eclaire de la patiente devrait etre obtenu avant que la tenue d'un depistage toxicologique maternel ne soit demandee. (III-B) 3. Les politiques et les obligations juridiques liees au depistage toxicologique chez les nouveau-nes peuvent varier d'un territoire de competence a l'autre, et les fournisseurs de soins devraient se familiariser avec les reglements en vigueur dans leur region. (III-A) 4. Les fournisseurs de soins de sante devraient utiliser une approche flexible envers les soins a offrir aux femmes qui connaissent des problemes de consommation de substances psychoactives. De plus, ils devraient favoriser l'utilisation de toutes les ressources communautaires disponibles. (II-2B) 5. Les femmes devraient se voir offrir des conseils au sujet des risques qu'occasionne la consommation de drogues pendant les periodes periconceptionnelle, antepartum et postpartum. (III-B) 6. Le counseling visant l'abandon du tabagisme devrait etre considere comme etant l'intervention de premiere intention pour ce qui est des femmes enceintes qui fument. (I-A) Le recours a la therapie de remplacement de la nicotine et/ou a la pharmacotherapie peut etre envisage lorsque le counseling echoue. (I-A) 7. Le traitement de substitution a la methadone devrait constituer la norme de diligence pour ce qui est des femmes qui presentent une dependance aux opioides pendant la grossesse. (II-IA) L'utilisation d'autres preparations opioides a liberation prolongee peut etre envisagee lorsque la methadone n'est pas disponible. (II-2B) 8. La desintoxication visant les opioides ne devrait etre mise en oeuvre qu'aupres de certaines femmes, et ce, en raison du risque eleve de rechute. (II-2B) 9. Les femmes qui presentent une dependance aux opiaces devraient etre avisees que les nouveau-nes exposes a l'heroine, aux opioides d'ordonnance, a la methadone ou a la buprenorphine pendant la grossesse font l'objet d'une etroite surveillance visant a deceler les symptomes du sevrage neonatal (syndrome d'abstinence neonatale). (II-2B) Les hopitaux offrant des soins obstetricaux devraient elaborer un protocole pour l'evaluation et la prise en charge des nouveau-nes exposes aux opiaces pendant la grossesse. (III-B) 10. La planification prenatale de l'analgesie intrapartum et postpartum peut etre offerte a toutes les femmes, en consultation avec les fournisseurs de soins appropries. (III-B) 11. Les risques et les avantages de l'allaitement devraient etre ponderes de facon personnalisee, puisque le traitement de substitution a la methadone ne constitue pas une contre-indication a l'allaitement. (II-3B)

Objective To give health care providers information about the genetic information that can be used as part of health surveillance for women undergoing a pre-conception evaluation for genetic risk assessment and possible genetic screening or testing. Options This genetic information can be used for patient education and possible prenatal testing. Outcomes The use of this genetic information may allow improved risk-benefit assessment for pre-conception counselling for individual patients and their families. Evidence PubMed or Medline and the Cochrane Database were searched in November 2009, using appropriate key words (preconception, genetic disease, maternal, family history, genetic health risk, genetic health surveillance, prenatal screening, prenatal diagnosis, birth defects, and teratogen). Grey (unpublished) literature was identified through searching the websites of health technology assessment and health technology assessment-related agencies, clinical practice guideline collections, and national and international medical specialty societies. Benefits, harms, and costs The benefits for the patient and her family include understanding of possible genetic risk and enhanced pregnancy outcomes. The harm includes increased anxiety or psychological stress associated with the possibility of identifying genetic risks. Validation The evidence obtained was reviewed by the Genetics Committee of the Society of Obstetricians and Gynaecologists of Canada.

Resume Objectif Offrir aux fournisseurs de soins de sante des renseignements au sujet des donnees genetiques qui peuvent etre utilisees dans le cadre de la surveillance de la sante pour les femmes qui subissent une evaluation preconceptionnelle visant a determiner le risque genetique et la possibilite de proceder a un depistage ou a des tests genetiques. Options Ces donnees genetiques peuvent etre utilisees aux fins de la sensibilisation des patientes et du depistage prenatal potentiel. Issues L'utilisation de ces donnees genetiques pourrait permettre l'amelioration de l'evaluation des risques et des avantages pour ce qui est du counseling preconceptionnel a l'intention des patientes et de leur famille. Resultats Des recherches ont ete menees dans PubMed ou Medline et la base de donnees Cochrane en novembre 2009, au moyen de mots cles appropries (« pre-conception », « genetic disease », « maternal, family history », « genetic health risk », « genetic health surveillance », « prenatal screening », « prenatal diagnosis », « birth defects » et « teratogen »). La litterature grise (non publiee) a ete identifiee par l'intermediaire de recherches menees dans les sites Web d'organismes s'interessant a l'evaluation des technologies dans le domaine de la sante et d'organismes connexes, dans des collections de directives cliniques, dans des registres d'essais cliniques et aupres de societes de specialite medicale nationales et internationales. Avantages, desavantages et couts Parmi les avantages pour la patiente et sa famille, on trouve la comprehension d'un possible risque genetique et l'obtention de meilleures issues de grossesse. Parmi les desavantages, on trouve une hausse de l'anxiete ou du stress psychologique associe a la possibilite d'identifier des risques genetiques. Validation Les resultats obtenus ont ete analyses par le comite de genetique de la Societe des obstetriciens et gynecologues du Canada.

To identify risk factors for fetuses and neonates with single umbilical artery and isolated single umbilical artery (single umbilical artery in the absence of chromosomal abnormalities and structural abnormalities) and to assess whether there is an increased risk for complications during pregnancy, labor, and delivery, and for perinatal morbidity and mortality.A population-based retrospective cohort analysis of deliveries in Nova Scotia, Canada, between 1980 and 2002 was conducted using the Nova Scotia Atlee Perinatal Database. Risk factors and outcomes for single umbilical artery and isolated single umbilical artery pregnancies were compared with three-vessel-cord pregnancies. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated for each outcome using multiple logistic regression to adjust for confounding factors. Separate models were run for single umbilical artery and isolated single umbilical artery.There were 203,240 fetuses and neonates available for analysis, with 885 (0.44%) having single umbilical artery and 725 (0.37%) having isolated single umbilical artery. Single umbilical artery fetuses and neonates had a 6.77 times greater risk of congenital anomalies and 15.35 times greater risk of chromosomal abnormalities. The most common congenital anomalies in chromosomally normal fetuses and neonates were genitourinary (6.48%), followed by cardiovascular (6.25%) and musculoskeletal (5.44%). For isolated single umbilical artery, placental abnormalities (OR 3.63, 95% CI 3.01-4.39), hydramnios (OR 2.80, 95% CI 1.42-5.49), and amniocentesis (OR 2.52, 95% CI 1.82-3.51) occurred more frequently than with three vessel cords. Neonates with single umbilical artery and isolated single umbilical artery had increased rates of prematurity, growth restriction, and adverse neonatal outcomes.Fetuses and neonates with single umbilical artery and isolated single umbilical artery are at increased risk for adverse outcomes. Identification of single umbilical artery is important for prenatal diagnosis of congenital anomalies and aneuploidy. Increased surveillance with isolated single umbilical artery may improve pregnancy outcomes.II.

Objective To review the evidence and provide recommendations for the counselling and management of obese parturients. Outcomes Outcomes evaluated include the impact of maternal obesity on the provision of antenatal and intrapartum care, maternal morbidity and mortality, and perinatal morbidity and mortality. Evidence Literature was retrieved through searches of Statistics Canada, Medline, and The Cochrane Library on the impact of obesity in pregnancy on antepartum and intrapartum care, maternal morbidity and mortality, obstetrical anaesthesia, and perinatal morbidity and mortality. Results were restricted to systematic reviews, randomized controlled trials/controlled clinical trials, and observational studies. There were no date or language restrictions. Searches were updated on a regular basis and incorporated in the guideline to April 2009. Grey (unpublished) literature was identified through searching the websites of health technology assessment and health technology assessment-related agencies, clinical practice guideline collections, clinical trial registries, and national and international medical specialty societies. Values The evidence obtained was reviewed and evaluated by the Maternal Fetal Medicine and Clinical Practice Obstetric Committees of the SOGC under the leadership of the principal authors, and recommendations were made according to guidelines developed by the Canadian Task Force on Preventive Health Care. Benefits, Harms, and Costs Implementation of the recommendations in this guideline should increase recognition of the issues clinicians need to be aware of when managing obese women in pregnancy, improve communication and consultation amongst the obstetrical care team, and encourage federal and provincial agencies to educate Canadians about the values of entering pregnancy with as healthy a weight as possible.

Resume Objectif Analyser les donnees et formuler des recommandations en ce qui concerne le counseling et la prise en charge des parturientes obeses. Issues Parmi les issues evaluees, on trouve les effets de l’obesite maternelle sur l’offre de soins prenatals et intrapartum, ainsi que sur la morbidite et la mortalite maternelles et perinatales. Resultats Des recherches ont ete menees aupres de Statistique Canada, de Medline et de The Cochrane Library en vue d’en tirer la litterature portant sur les effets de l’obesite pendant la grossesse sur les soins prenatals et intrapartum, la morbidite et la mortalite maternelles, l’anesthesie obstetricale, et la morbidite et la mortalite perinatales. Les resultats ont ete restreints aux analyses systematiques, aux essais comparatifs randomises / essais cliniques comparatifs et aux etudes observationnelles. Aucune restriction en fonction de la date ou de la langue n’a ete mise en œuvre. Les recherches ont ete regulierement mises a jour et leurs resultats ont ete incorpores a la directive clinique jusqu’en avril 2009. La litterature grise (non publiee) a ete identifiee par l’intermediaire de recherches menees dans les sites Web d’organismes s’interessant a l’evaluation des technologies dans le domaine de la sante et d’organismes connexes, dans des collections de directives cliniques, dans des registres d’essais cliniques et aupres de societes de specialite medicale nationales et internationales. Valeurs Les resultats cumules ont ete analyses et evalues par le comite de medecine fœto-maternelle et le comite de pratique clinique-obstetrique de la SOGC, sous la gouverne des auteurs principaux, et les recommandations ont ete formulees conformement aux lignes directrices elaborees par le Groupe d’etude canadien sur les soins de sante preventifs. Avantages, desavantages et couts :La mise en œuvre des recommandations formulees dans la presente directive clinique devraient sensibiliser davantage les cliniciens aux aspects qui doivent etre pris en consideration dans le cadre de la prise en charge des femmes obeses pendant la grossesse, ameliorer la communication et la consultation au sein de l’equipe de soins obstetricaux, et inciter les organismes federaux et provinciaux a sensibiliser les Canadiennes aux bienfaits du maintien d’un poids aussi sante que possible avant la grossesse. Recommandations 1. Les examens de sante periodiques et les autres consultations de nature gynecologique se deroulant avant la grossesse constituent des occasions ideales d’aborder le sujet de la perte de poids avant la conception. Les femmes devraient etre incitees a presenter, avant la grossesse, un IMC 2 et, idealement, 2 . (III-B) 2. L’IMC devrait etre calcule en fonction de la taille et du poids pregrossesses. Les femmes qui presentent un IMC pregrossesse > 30 kg/m 2 sont considerees comme etant obeses. Ce renseignement peut s’averer utile dans le cadre du counseling visant les risques pour la grossesse qui sont associes a l’obesite. (II-2B) 3. Les femmes enceintes obeses devraient se voir offrir des services de counseling au sujet du gain ponderal, de la nutrition et des choix alimentaires. (II-2B) 4. Les femmes obeses devraient etre avisees qu’elles sont exposees a des risques de complications medicales telles que les maladies cardiaques, les maladies pulmonaires, l’hypertension gestationnelle, le diabete gestationnel et l’apnee obstructive du sommeil. La pratique reguliere d’exercices pendant la grossesse peut contribuer a attenuer certains de ces risques. (II-2B) 5. Les femmes obeses devraient etre avisees que leur fœtus est expose a un risque accru d’anomalies congenitales; un depistage approprie devrait etre mis en œuvre. (II-2B) 6. Les fournisseurs de soins obstetricaux devraient tenir compte de l’IMC au moment de prendre des dispositions en vue de la tenue d’une evaluation anatomique fœtale au cours du deuxieme trimestre. Une evaluation anatomique menee a 20–22 semaines pourrait s’averer mieux indiquee pour ce qui est des patientes enceintes obeses. (II-2B) 7. Les femmes enceintes obeses courent un risque accru de subir une cesarienne; de plus, leur taux de reussite en ce qui concerne l’accouchement vaginal a la suite d’une cesarienne connait une baisse. (II-2B) 8. Le tenue d’une consultation prenatale aupres d’un anesthesiste devrait etre envisagee, afin de passer en revue les options en matiere d’analgesie et de s’assurer de la mise en place d’un plan de prise en charge lorsque l’option de l’anesthesie regionale est retenue. (III-B) 9. Le risque de thromboembolie veineuse de chaque femme obese devrait etre evalue. Dans certaines situations cliniques, le fait d’envisager une thromboprophylaxie devrait etre personnalise. (III-B)

Objectives To describe the etiology of vasa previa and the risk factors and associated condition, to identify the various clinical presentations of vasa previa, to describe the ultrasound tools used in its diagnosis, and to describe the management of vasa previa. Outcomes Reduction of perinatal mortality, short-term neonatal morbidity, long-term infant morbidity, and short-term and long-term maternal morbidity and mortality. Evidence Published literature on randomized trials prospective cohort studies, and selected retrospective cohort studies was retrieved through searches of PubMed or Medline, CINAHL, and the Cochrane Library, using appropriate controlled vocabulary (e.g., selected epidemiological studies comparing delivery by Caesarean section with vaginal delivery studies comparing outcomes when vasa previa is diagnosed antenatally vs. intrapartum) and key words (e.g. vasa previa). Results were restricted to systematic reviews, randomized control trials/controlled clinical trials, and observational studies. Searches were updated on a regular basis and incorporated into the guideline to October 1, 2008. Grey (unpublished) literature was identified through searching the websites of health technology assessment and health technology assessment-related agencies, clinical practice guideline collections, clinical trial registries, and from national and international medical specialty societies. Values The evidence collected was reviewed by the Diagnostic Imaging Committee and the Maternal Fetal Medicine Committee of the Society of Obstetricians and Gynaecologists of Canada (SOGC) and quantified using the evaluation of evidence guidelines developed by the Canadian Task Force on Preventive Health Care. Benefits, Harms, and Costs The benefit expected from this guideline is facilitation of optimal and uniform care for pregnancies complicated by vasa previa. Sponsors The Society of Obstetricians and Gynaecologists of Canada.

Objective To provide information to genetic counsellors, midwives, nurses, and physicians who are involved in the prenatal care of women dealing with prenatally diagnosed isolated or multiple structural congenital anomalies. Outcomes To provide better counselling for women and families who are dealing with the diagnosis of a fetal structural anomaly. Evidence Published literature was retrieved through searches of PubMed or Medline, CINAHL, and the Cochrane Library for relevant articles using appropriate controlled vocabulary (e.g., structural congenital anomalies, prenatal ultrasound diagnosis of congenital anomalies, invasive testing results, and diagnosis of genetic syndromes; soft markers of aneuploidy were not included in this search) and key words. Results were restricted to systematic reviews, randomized control trials/controlled clinical trials, and observational studies. There were no date or language restrictions. Searches were updated on a regular basis and material from between 1985 and 2008 incorporated in the guideline. Grey (unpublished) literature was identified through searching the websites of health technology assessment and health technology assessment-related agencies, clinical practice guideline collections, clinical trial registries, and national and international medical specialty societies. Values The evidence obtained was reviewed by the Genetics Committee of the Society of Obstetricians and Gynaecologists of Canada (SOGC). Recommendations were quantified using the evaluation of evidence guidelines developed by the Canadian Task Force on Preventive Health Care. Benefits, Harms, and Costs Findings of isolated or multiple fetal anomalies on prenatal ultrasound examination always lead to stressful times for women and families. Although a proportion of such anomalies can be explained by chromosomal abnormalities (aneuploidy, unbalanced translocation, deletions, or duplications), others may represent recognizable syndromes with another genetic basis (microdeletion or autosomal dominant, recessive, or X-linked inheritance). Providing accurate information and relevant reproductive genetic counselling to these women and families will allow them to make informed decisions. This is not easily accomplished because of the limited information available prenatally. This document does not provide an extensive description of every syndrome but rather a framework of reference. No cost-benefit analysis is provided. Recommendations 1.When a fetal structural anomaly is identified, the pregnant woman should be offered a timely consultation with a trained genetic counsellor and with a maternal-fetal medicine specialist and/or a medical geneticist. The counselling should be unbiased and respectful of the patient's choice, culture, religion, and beliefs. (III-A) 2.Patients should be informed that prenatal ultrasound at 18 to 20 weeks can detect major structural anomalies in approximately 60% of such cases. (II-2A) 3.When a fetal structural anomaly is suspected or identified, a referral to a tertiary ultrasound unit should be made as soon as possible to optimize therapeutic options. (II-2A) 4.In ongoing pregnancies with fetal structural anomalies, ultrasound examination should be repeated (at a frequency depending on the anomaly) to assess the evolution of the anomaly and attempt to detect other anomalies not previously identified, as this may influence the counselling as well as the obstetrical or perinatal management. (II-2B) 5.Once a fetal structural anomaly is identified by 2-D ultrasound, other imaging techniques such as fetal echocardiography, 3-D obstetrical ultrasound, ultrafast fetal MRI, and, occasionally, fetal X-ray and fetal CT scan (using a low-dose protocol) may be helpful in specific cases. (II-2A) 6.Parental imaging should be considered in specific cases, depending on the fetal anomaly identified (e.g., potential dominant inheritance). (III-A) 7.Parental blood testing and invasive prenatal testing may also be required to clarify the diagnosis for a fetus with isolated or multiple structural anomalies. (II-2A) 8.Women should receive information regarding the abnormal ultrasound findings in a clear, sympathetic, and timely fashion, and in a supportive environment that ensures privacy. Referral to the appropriate pediatric or surgical subspecialist(s) should be considered to provide the most accurate information possible concerning the anomaly or anomalies and the associated prognosis. (II-2 B) 9.Parents should be informed that major or minor fetal structural anomalies, whether isolated or multiple, may be part of a genetic syndrome, sequence, or association, despite a normal fetal karyotype. (III-A) 10.If early or urgent postnatal management may be required, delivery at a centre that can provide the appropriate neonatal care should be considered. (III-A) 11.When any congenital structural anomaly has been identified prenatally, a comprehensive newborn assessment is essential for diagnosis and counselling on the etiology, prognosis, and recurrence risk for future pregnancies, especially when the etiology has not been clearly identified prenatally. (III-A) 12.In cases of termination of pregnancy, stillbirth, or neonatal death, the health professional should encourage the performance of a complete autopsy by a perinatal or pediatric pathologist to provide maximum information on the diagnosis and etiology of the structural fetal anomaly or anomalies. When a complete autopsy is refused, the health professional should encourage the performance of at least a partial or external autopsy (including X-rays and photographs). (III-A) Validation This committee opinion has been prepared by the Genetics Committee of the SOGC and approved by the Executive of the SOGC.

Resume Objectif Offrir des renseignements aux conseillers genetiques, aux sages-femmes, aux infirmieres et aux medecins qui prennent part aux soins prenatals offerts aux femmes qui sont aux prises avec des anomalies congenitales structurelles, isolees ou multiples, diagnostiquees pendant la periode prenatale. Issues Offrir de meilleurs services de counseling aux femmes et aux familles qui sont aux prises avec un diagnostic d'anomalie structurelle fœtale. Resultats La litterature publiee a ete identifiee par l'intermediaire de recherches menees dans PubMed ou Medline, CINAHL et la Cochrane Library, au moyen d'un vocabulaire controle approprie (p. ex. anomalies congenitales structurelles, diagnostic d'anomalies congenitales etabli au moyen d'une echographie prenatale, resultats d'un depistage effractif et diagnostic des syndromes genetiques; les marqueurs faibles de l'aneuploidie n'ont pas ete inclus aux fins de cette recherche) et de mots cles. Les resultats ont ete restreints aux analyses systematiques, aux essais comparatifs randomises / essais cliniques comparatifs et aux etudes observationnelles. Aucune restriction quant a la date ou a la langue n'a ete mise en œuvre. Les recherches ont ete regulierement mises a jour et les donnees publiees entre 1985 et 2008 ont ete integrees a la directive clinique. La litterature grise (non publiee) a ete identifiee par l'intermediaire de recherches menees dans les sites Web d'organismes s'interessant a l'evaluation des technologies dans le domaine de la sante et d'organismes connexes, dans des collections de directives cliniques, dans des registres d'essais cliniques et aupres de societes de specialite medicale nationales et internationales. Valeurs Les resultats obtenus ont ete evalues par le comite sur la genetique de la Societe des obstetriciens et gynecologues du Canada (SOGC). Les recommandations ont ete quantifiees au moyen des lignes directrices sur l'evaluation des resultats elaborees par le Groupe d'etude canadien sur les soins de sante preventifs. Avantages, desavantages et couts La constatation d'anomalies fœtales isolees ou multiples au moment de l'examen echographique prenatal engendre toujours du stress pour les femmes et leur famille. Bien qu'une proportion de ces anomalies puisse etre expliquee par la presence d'anomalies chromosomiques (aneuploidie, translocation desequilibree, deletions ou duplications), d'autres anomalies peuvent representer des syndromes identifiables reposant sur une toute autre base genetique (microdeletion ou heredite dominante, recessive ou liee au chromosome X autosomique). L'offre de renseignements precis et de services de counseling genetique genesique pertinents a ces femmes et a leur famille leur permettra de prendre des decisions eclairees. Il ne s'agit pas d'une tâche facile, puisque les renseignements disponibles pendant la periode prenatale sont limites. Le present document n'offre pas une description exhaustive de chaque syndrome, mais plutot un cadre de reference. Aucune analyse couts-avantages n'est offerte. Recommandations 1.Lorsqu'une anomalie structurelle fœtale est identifiee, la patiente enceinte devrait se voir offrir une consultation en temps opportun aupres d'un conseiller forme en ce qui concerne la genetique, ainsi qu'aupres d'un specialiste en medecine fœto-maternelle et/ou d'un geneticien medical. Le counseling offert se doit d'etre impartial et de respecter le choix, la culture, la religion et les convictions de la patiente. (III-A) 2.Les patientes devraient etre avisees que la tenue d'une echographie prenatale entre la 18e et la 20e semaine de gestation permet de detecter la presence d'anomalies structurelles majeures dans pres de 60 % des cas. (II-2A) 3.Lorsque la presence d'une anomalie structurelle fœtale est soupconnee ou identifiee, la patiente devrait etre orientee vers les services d'une unite tertiaire d'echographie des que possible en vue d'optimiser les options therapeutiques. (II-2A) 4.Dans les cas de grossesse en cours presentant des anomalies structurelles fœtales, l'examen echographique devrait etre repete (a une frequence etablie en fonction de la ou des anomalies en question) afin d'evaluer l'evolution de la ou des anomalies et de tenter de detecter la presence d'autres anomalies n'ayant pas encore ete identifiees, puisque cela pourrait influencer tant le counseling que la prise en charge obstetricale ou perinatale. (II-2B) 5.Lorsqu'une anomalie structurelle fœtale est identifiee par echographie 2-D, le recours a d'autres techniques d'imagerie (telles que l'echocardiographie fœtale, l'echographie obstetricale 3-D, l'IRM fœtale ultra-rapide et, a l'occasion, la radiographie fœtale et la tomodensitometrie foetale [au moyen d'un protocole a faible dose]) peut s'averer utile dans certains cas particuliers. (II-2A) 6.Le recours a l'imagerie parentale devrait etre envisage dans certains cas particuliers, en fonction de l'anomalie fœtale identifiee (p. ex. heredite dominante potentielle). (III-A) 7.La tenue d'une analyse sanguine parentale et d'un depistage prenatal effractif peut egalement s'averer requise pour clarifier le diagnostic chez un fœtus presentant des anomalies structurelles isolees ou multiples. (II-2A) 8.Les femmes devraient recevoir des renseignements au sujet de leurs resultats echographiques anormaux de facon claire, empathique et opportune, dans un milieu bienveillant qui assure le respect de la confidentialite. L'orientation vers les services de sous-specialistes pediatriques ou chirurgicaux appropries devrait etre envisagee afin de fournir les renseignements les plus precis possibles au sujet de la ou des anomalies et du pronostic connexe. (II-2 B) 9.Les parents devraient etre avises du fait qu'il est possible que les anomalies structurelles fœtales majeures ou mineures, qu'elles soient isolees ou multiples, fassent partie d'un syndrome, d'une sequence ou d'une association genetique, malgre la presence d'un caryotype fœtal normal. (III-A) 10.Dans les cas ou une prise en charge postnatale precoce ou urgente pourrait s'averer requise, l'accouchement dans un centre pouvant offrir les soins neonatals appropries devrait etre envisage. (III-A) 11.Lorsqu'une quelconque anomalie structurelle congenitale a ete identifiee pendant la periode prenatale, la tenue d'une evaluation exhaustive du nouveau-ne est essentielle aux fins du diagnostic et du counseling quant a l'etiologie, au pronostic et au risque de recurrence en ce qui concerne les futures grossesses, particulierement dans les cas ou l'etiologie n'a pas ete clairement identifiee pendant la periode prenatale. (III-A) 12.Dans les cas d'interruption de grossesse, de mortinaissance ou de deces neonatal, les professionnels de la sante devraient favoriser la tenue d'une autopsie complete par un pathologiste perinatal ou pediatrique, et ce, afin d'obtenir un maximum de renseignements sur le diagnostic et l'etiologie de la ou des anomalies structurelles fœtales. Lorsque la tenue d'une autopsie complete est refusee, les professionnels de la sante devraient favoriser la tenue d'une autopsie au moins partielle ou externe (y compris des radiographies et des photographies). (III-A) Validation La presente opinion de comite a ete redigee par le comite sur la genetique et approuvee par le comite executif de la Societe des obstetriciens et gynecologues du Canada.

Objectives: To review the physiology of breech birth; to discern the risks and benefits of a trial of labour versus planned Caesarean section; and to recommend to obstetricians, family physicians, midwives, obstetrical nurses, anaesthesiologists, pediatricians, and other health care providers selection criteria, intrapartum management parameters, and delivery techniques for a trial of vaginal breech birth.

Objectives To describe the etiology of vasa previa and the risk factors and associated condition, to identify the various clinical presentations of vasa previa, to describe the ultrasound tools used in its diagnosis, and to describe the management of vasa previa. Outcomes Reduction of perinatal mortality, short-term neonatal morbidity, long-term infant morbidity, and short-term and long-term maternal morbidity and mortality. Evidence Published literature on randomized trials, prospective cohort studies, and selected retrospective cohort studies was retrieved through searches of PubMed or Medline, CINAHL, and the Cochrane Library, using appropriate controlled vocabulary (e.g., selected epidemiological studies comparing delivery by Caesarean section with vaginal delivery; studies comparing outcomes when vasa previa is diagnosed antenatally vs. intrapartum) and key words (e.g., vasa previa). Results were restricted to systematic reviews, randomized control trials/controlled clinical trials, and observational studies. Searches were updated on a regular basis and incorporated into the guideline to October 1, 2008. Grey (unpublished) literature was identified through searching the websites of health technology assessment and health technology assessment-related agencies, clinical practice guideline collections, clinical trial registries, and from national and international medical specialty societies. Values The evidence collected was reviewed by the Diagnostic Imaging Committee and the Maternal Fetal Medicine Committee of the Society of Obstetricians and Gynaecologists of Canada (SOGC) and quantified using the evaluation of evidence guidelines developed by the Canadian Task Force on Preventive Health Care. Benefits, Harms, and Costs The benefit expected from this guideline is facilitation of optimal and uniform care for pregnancies complicated by vasa previa. Sponsors The Society of Obstetricians and Gynaecologists of Canada. Summary Statement A comparison of women who were diagnosed antenatally and those who were not shows respective neonatal survival rates of 97% and 44%, and neonatal blood transfusion rates of 3.4% and 58.5%, respectively. Vasa previa can be diagnosed antenatally, using combined abdominal and transvaginal ultrasound and colour flow mapping; however, many cases are not diagnosed, and not making such a diagnosis is still acceptable. Even under the best circumstances the false positive rate is extremely low. (II-2) Recommendations 1.If the placenta is found to be low lying at the routine second trimester ultrasound examination, further evaluation for placental cord insertion should be performed. (II-2B) 2.Transvaginal ultrasound may be considered for all women at high risk for vasa previa, including those with low or velamentous insertion of the cord, bilobate or succenturiate placenta, or for those having vaginal bleeding, in order to evaluate the internal cervical os. (II-2B) 3.If vasa previa is suspected, transvaginal ultrasound colour Doppler may be used to facilitate the diagnosis. Even with the use of transvaginal ultrasound colour Doppler, vasa previa may be missed. (II-2B) 4.When vasa previa is diagnosed antenatally, an elective Caesarean section should be offered prior to the onset of labour. (II-1A) 5.In cases of vasa previa, premature delivery is most likely; therefore, consideration should be given to administration of corticosteroids at 28 to 32 weeks to promote fetal lung maturation and to hospitalization at about 30 to 32 weeks. (II-2B) 6.In a woman with an antenatal diagnosis of vasa previa, when there has been bleeding or premature rupture of membranes, the woman should be offered delivery in a birthing unit with continuous electronic fetal heart rate monitoring and, if time permits, a rapid biochemical test for fetal hemoglobin, to be done as soon as possible; if any of the above tests are abnormal, an urgent Caesarean section should be performed. (III-B) 7.Women admitted with diagnosed vasa previa should ideally be transferred for delivery in a tertiary facility where a pediatrician and blood for neonatal transfusion are immediately available in case aggressive resuscitation of the neonate is necessary. (II-3B) 8.Women admitted to a tertiary care unit with a diagnosis of vasa previa should have this diagnosis clearly identified on the chart, and all health care providers should be made aware of the potential need for immediate delivery by Caesarean section if vaginal bleeding occurs. (III-B)

Objectives To review the physiology of breech birth; to discern the risks and benefits of a trial of labour versus planned Caesarean section; and to recommend to obstetricians, family physicians, midwives, obstetrical nurses, anaesthesiologists, pediatricians, and other health care providers selection criteria, intrapartum management parameters, and delivery techniques for a trial of vaginal breech birth. Options Trial of labour in an appropriate setting or delivery by pre-emptive Caesarean section for women with a singleton breech fetus at term. Outcomes Reduced perinatal mortality, short-term neonatal morbidity, long-term infant morbidity, and short- and long-term maternal morbidity and mortality. Evidence Medline was searched for randomized trials, prospective cohort studies, and selected retrospective cohort studies comparing planned Caesarean section with a planned trial of labour; selected epidemiological studies comparing delivery by Caesarean section with vaginal breech delivery; and studies comparing long-term outcomes in breech infants born vaginally or by Caesarean section. Additional articles were identified through bibliography tracing up to June 1, 2008. Values The evidence collected was reviewed by the Maternal Fetal Medicine Committee of the Society of Obstetricians and Gynaecologists of Canada (SOGC) and quantified using the criteria and classifications of the Canadian Task Force on Preventive Health Care. Validation This guideline was compared with the 2006 American College of Obstetrician's Committee Opinion on the mode of term singleton breech delivery and with the 2006 Royal College of Obstetrician and Gynaecologists Green Top Guideline: The Management of Breech Presentation. The document was reviewed by Canadian and International clinicians with particular expertise in breech vaginal delivery. Sponsors The Society of Obstetricians and Gynaecologists of Canada. Summary Statements 1.Vaginal breech birth can be associated with a higher risk of perinatal mortality and short-term neonatal morbidity than elective Caesarean section. (I) 2.Careful case selection and labour management in a modern obstetrical setting may achieve a level of safety similar to elective Caesarean section. (II-1) 3.Planned vaginal delivery is reasonable in selected women with a term singleton breech fetus. (I) 4.With careful case selection and labour management, perinatal mortality occurs in approximately 2 per 1000 births and serious short-term neonatal morbidity in approximately 2% of breech infants. Many recent retrospective and prospective reports of vaginal breech delivery that follow specific protocols have noted excellent neonatal outcomes. (II-1) 5.Long-term neurological infant outcomes do not differ by planned mode of delivery even in the presence of serious short-term neonatal morbidity. (I) Recommendations Labour Selection Criteria 1.For a woman with suspected breech presentation, pre- or early labour ultrasound should be performed to assess type of breech presentation, fetal growth and estimated weight, and attitude of fetal head. If ultrasound is not available, Caesarean section is recommended. (II-1A) 2.Contraindications to labour include a.Cord presentation (II-3A) b.Fetal growth restriction or macrosomia (I-A) c.Any presentation other than a frank or complete breech with a flexed or neutral head attitude (III-B) d.d. Clinically inadequate maternal pelvis (III-B) e.Fetal anomaly incompatible with vaginal delivery (III-B) 3.Vaginal breech delivery can be offered when the estimated fetal weight is between 2500g and 4000g. (II-2B) Labour Management 4.Clinical pelvic examination should be performed to rule out pathological pelvic contraction. Radiologic pelvimetry is not necessary for a safe trial of labour; good progress in labour is the best indicator of adequate fetal-pelvic proportions. (III-B) 5.Continuous electronic fetal heart monitoring is preferable in the first stage and mandatory in the second stage of labour. (I-A) When membranes rupture, immediate vaginal examination is recommended to rule out prolapsed cord. (III-B) 6.In the absence of adequate progress in labour, Caesarean section is advised. (II-1A) 7.Induction of labour is not recommended for breech presentation. (II-3B) Oxytocin augmentation is acceptable in the presence of uterine dystocia. (II-1A) 8.A passive second stage without active pushing may last up to 90 minutes, allowing the breech to descend well into the pelvis. Once active pushing commences, if delivery is not imminent after 60 minutes, Caesarean section is recommended. (I-A) 9.The active second stage of labour should take place in or near an operating room with equipment and personnel available to perform a timely Caesarean section if necessary. (III-A) 10.A health care professional skilled in neonatal resuscitation should be in attendance at the time of delivery. (III-A) Delivery Technique 11.The health care provider for a planned vaginal breech delivery needs to possess the requisite skills and experience. (II-1A) 12.An experienced obstetrician-gynaecologist comfortable in the performance of vaginal breech delivery should be present at the delivery to supervise other health care providers, including a trainee. (I-A) 13.The requirements for emergency Caesarean section, including availability of the hospital operating room team and the approximate 30-minute timeline to commence a laparotomy, must be in accordance with the recommendations of the SOGC Policy Statement, "Attendance at Labour and Delivery" (CPG No. 89; update in press, 2009). (III-A) 14.The health care provider should have rehearsed a plan of action and should be prepared to act promptly in the rare circumstance of a trapped after-coming head or irreducible nuchal arms: symphysiotomy or emergency abdominal rescue can be life saving. (III-B) 15.Total breech extraction is inappropriate for term singleton breech delivery. (II-2A) 16.Effective maternal pushing efforts are essential to safe delivery and should be encouraged. (II-1A) 17.At the time of delivery of the after-coming head, an assistant should be present to apply suprapubic pressure to favour flexion and engagement of the fetal head. (II-3B) 18.Spontaneous or assisted breech delivery is acceptable. Fetal traction should be avoided, and fetal manipulation must be applied only after spontaneous delivery to the level of the umbilicus. (III-A) 19.Nuchal arms may be reduced by the Lovset or Bickenbach manoeuvres. (III-B) 20.The fetal head may deliver spontaneously, with the assistance of suprapubic pressure, by Mauriceau-Smellie-Veit manoeuvre, or with the assistance of Piper forceps. (III-B) Setting and Consent 21.In the absence of a contraindication to vaginal delivery, a woman with a breech presentation should be informed of the risks and benefits of a trial of labour and elective Caesarean section, and informed consent should be obtained. A woman's choice of delivery mode should be respected. (III-A) 22.The consent discussion and chosen plan should be well documented and communicated to labour-room staff. (III-B) 23.Hospitals offering a trial of labour should have a written protocol for eligibility and intrapartum management. (III-B) 24.Women with a contraindication to a trial of labour should be advised to have a Caesarean section. Women choosing to labour despite this recommendation have a right to do so and should not be abandoned. They should be provided the best possible in-hospital care. (III-A) 25.The Society of Obstetricians and Gynaecologists of Canada (SOGC), in collaboration with the Association of Professors of Obstetrics and Gynaecology (APOG), The College of Family Physicians of Canada (CFPC), and The Canadian Association of Midwives (CAM) should revise the training requirements at the undergraduate and postgraduate levels. SOGC will continue to promote training of current health care providers through the MOREOB, ALARM (Advances in Labour and Risk Management), and other courses. (III-A) 26.Theoretical and hands-on breech birth training simulation should be part of basic obstetrical skills training programs such as ALARM, ALSO (Advanced Life Support Training in Obstetrics), and MOREOB to prepare health care providers for unexpected vaginal breech births. (III-B)

Resume Objectif Analyser les donnees au sujet des autopsies foetales et perinatales, le processus d'obtention du consentement et les autres options de collecte de donnees a la suite d'un diagnostic prenatal de malformations non chromosomiques, ainsi qu'aider les cliniciens a offrir des services de counseling postnatal a propos du diagnostic foetal et des risques de recurrence.Criteres d'evaluation des resultats et de classifcation des recommandations, fondes sur ceux du Groupe d'etude canadien sur les soins de sante preventifsNiveaux de resultats*Categories de recommandations† I:Resultats obtenus dans le cadre d'au moins un essai comparatif convenablement randomise II-1:Resultats obtenus dans le cadre d'essais comparatifs non randomises bien concus II-2:Resultats obtenus dans le cadre d'etudes de cohortes (prospectives ou retrospectives) ou d'etudes analytiques cas-temoins bien concues, realisees de preference dans plus d'un centre ou par plus d'un groupe de recherche II-3:Resultats decoulant de comparaisons entre differents moments ou differents lieux, ou selon qu'on a ou non recours a une intervention Des resultats de premiere importance obtenus dans le cadre d'etudes non comparatives (par exemple, les resultats du traitement a la penicilline, dans les annees 1940) pourraient en outre fgurer dans cette categorie III:Opinions exprimees par des sommites dans le domaine, fondees sur l'experience clinique, etudes descriptives ou rapports de comites d'experts A.On dispose de donnees suffsantes pour appuyer la mesure clinique de prevention B.On dispose de donnees acceptables pour appuyer la mesure clinique de prevention C.Les donnees existantes sont contradictoires et ne permettent pas de formuler une recommandation pour ou contre l'usage de la mesure clinique de prevention; cependant, d'autres facteurs peuvent infuer sur la prise de decision D.On dispose de donnees acceptables pour deconseiller la mesure clinique de prevention E.On dispose de donnees suffsantes pour deconseiller la mesure clinique de prevention F.Les donnees sont insuffsantes (d'un point de vue qantitatif ou qualitatif) et ne permettent pas de formuler une recommandation; cependant, d'autres facteurs peuvent infuer sur la prise de decision Woolf SH, Battista RN, Angerson GM, Logan AG, Eel W « Canadian Task Force on Preventive Health Care New grades for recommendations from the Canadian Task Force on Preventive Health Care », CMAJ, vol 169, 2003, p 207–8*La qualite des resultats signales dans les presentes directives cliniques a ete etablie conformement aux criteres d'evaluation des resultats presentes dans le Rapport du Groupe d'etude canadien sur les soins de sante preventifs†Les recommandations que comprennent les presentes directives cliniques ont ete classees conformement a la methode de classifcation decrite dans le Rapport du Groupe d'etude canadien sur les soins de sante preventif Issues Mieux conseiller les patientes et leur famille qui font face a un diagnostic prenatal d'anomalie foetale non chromosomique au sujet des autopsies foetales et perinatales. Resultats La litterature publiee a ete recuperee par l'intermediaire de recherches menees dans PubMed ou MEDLINE, CINAHL et The Cochrane Library en 2009 et en 2010, au moyen de mots cles adequats (« fetal autopsy », « postmortem », « autopsy », « perinatal postmortem examination », « autopsy protocol », « postmortem magnetic resonance imaging », « autopsy consent », « tissue retention », « autopsy evaluation »). Les resultats ont ete restreints aux analyses systematiques, aux essais comparatifs randomises / essais cliniques comparatifs et aux etudes observationnelles. Des publications additionnelles ont ete identifiees a partir des bibliographies de ces articles. Aucune restriction n'a ete imposee en matiere de date ou de langue. La litterature grise (non publiee) a ete identifiee par l'intermediaire de recherches menees dans les sites Web d'organismes s'interessant a l'evaluation des technologies dans le domaine de la sante et d'organismes connexes, dans des collections de directives cliniques, dans des registres d'essais cliniques et aupres de societes de specialite medicale nationales et internationales. Avantages, desavantages et couts La presente mise a jour renseigne les lecteurs au sujet (1) des avantages de la tenue d'une autopsie foetale ou perinatale, (2) du processus de consentement et (3) des solutions de rechange face au refus de la famille de proceder a une autopsie. Elle offre egalement une approche standardisee envers les autopsies foetales et perinatales, en mettant l'accent sur les prelevements additionnels pertinents, le cas echeant. Valeurs La qualite des resultats a ete evaluee au moyen des criteres decrits dans le rapport du Groupe d'etude canadien sur les soins de sante preventifs (Tableau 1).

Resume Objectif Offrir aux fournisseurs de soins de sante canadiens des donnees actuelles sur l'utilisation de l'amplification en chaine par polymerase fluorescente quantitative (QF-PCR) ou d'une technologie equivalente dans le diagnostic prenatal des anomalies chromosomiques fœtales. Options Au cours des dernieres decennies, le diagnostic prenatal des anomalies chromosomiques fœtales a repose sur l'analyse cytogenetique conventionnelle de cultures d'amniocytes, de villosites choriales ou de sang fœtal. Au cours des quelques dernieres annees, la validite clinique d'une nouvelle technique (la QF-PCR) pour ce qui est de la detection des aneuploidies courantes a ete signalee par un certain nombre de chercheurs. Cette technique dispose de l'avantage de fournir rapidement des resultats pour le diagnostic ou l'exclusion de l'aneuploidie en ce qui concerne les chromosomes 13, 18, 21, X ou Y II est maintenant possible de choisir d'avoir recours a une analyse chromosomique standard ou a la QF-PCR pour le diagnostic prenatal des anomalies chromosomiques (ou encore de mener ces deux tests), en fonction de l'indication clinique du depistage. Le present document analyse l'utilite clinique de la QF-PCR et formule des recommandations quant a son utilisation dans le cadre des soins offerts aux patientes canadiennes. Resultats Des recherches ont ete menees dans Medline et PubMed afin d'en tirer les articles publies en anglais entre janvier 2000 et decembre 2010 qui presentaient des donnees issues de la comparaison entre la QF-PCR et l'analyse cytogenetique standard des prelevements prenataux. Une deuxieme recherche a ete menee pour identifier les publications en anglais qui offraient des resultats d'analyses cytogenetiques menees sur des prelevements prenataux chez des femmes exposees a un risque accru d'aneuploidie fœtale en raison de leur âge, de resultats anormaux a la suite du depistage prenatal ou de marqueurs faibles echographiques fœtaux semblant indiquer un risque accru d'aneuploidie. Ces publications ont ete incluses lorsqu'elles offraient des renseignements detailles sur les anomalies detectees, peu importe si un depistage rapide de l'aneuploidie avait ete mene. Les resultats ont ete restreints aux analyses systematiques, aux essais comparatifs randomises et aux etudes observationnelles pertinentes. La litterature grise (non publiee) a ete identifiee par l'intermediaire de recherches menees dans les sites Web d'organismes s'interessant a l'evaluation des technologies dans le domaine de la sante et d'organismes connexes, dans des collections de directives cliniques, dans des registres d'essais cliniques et aupres de societes de specialite medicale nationales et internationales. Les directives cliniques precedemment publiees par la Societe des obstetriciens et gynecologues du Canada au sujet du depistage prenatal ont egalement ete analysees dans le cadre de l'elaboration de la presente directive clinique. Valeurs La qualite des resultats a ete evaluee au moyen des criteres decrits dans le rapport du Groupe d'etude canadien sur les soins de sante preventifs (Tableau). Avantages, desavantages et couts La presente directive clinique fait la promotion du recours a un test ADN rapide de depistage de l'aneuploidie chez les femmes exposees a un risque accru de connaitre une grossesse affectee par une aneuploidie courante. La mise en oeuvre d'un tel test aura l'avantage de fournir rapidement des resultats precis aux femmes exposees a un risque accru de syndrome de Down, de trisomie 13, de trisomie 18, d'aneuploidie ou de triploidie des chromosomes sexuels. Elle favorisera egalement une meilleure utilisation des ressources laboratoires et la reduction des couts lies au diagnostic prenatal. Cependant, un faible pourcentage de grossesses presentant une anomalie chromosomique potentiellement significative sur le plan clinique, bien que detectables au moyen de methodes cytogenetiques conventionnelles, passeront inapercues au moment de la mise en oeuvre de la QF-PCR. Recommandations 1. La QF-PCR est un moyen fiable de detecter les trisomies et devrait remplacer l'analyse cytogenetique conventionnelle lorsque le depistage prenatal n'est mene qu'en raison d'un risque accru d'aneuploidie affectant les chromosomes 13, 18, 21, X ou Y. Comme pour tout autre test, les services de counseling pretest devraient comprendre une discussion sur les avantages et les limites de ce test. Au cours de la periode initiale d'utilisation, l'offre d'une formation aux fournisseurs de soins de sante s'averera necessaire. (II-2A) 2. L'analyse cytogenetique conventionnelle et la QF-PCR devraient toutes deux etre mises en oeuvre dans tous les cas de diagnostic prenatal demande en raison de la constatation echographique d'une anomalie foetale (y compris une mesure accrue de la clarte nucale > 3,5 mm) ou de la presence d'un remaniement chromosomique familial. (II-2A) 3. Le suivi cytogenetique des resultats de QF-PCR indiquant des trisomies 13 et 21 est recommande pour ecarter la presence possible de translocations robertsoniennes hereditaires. Toutefois, la decision de mettre en oeuvre, pour tous les cas, une culture d'appoint qui permettrait la tenue d'un depistage cytogenetique traditionnel (lorsque cela s'avererait indique en raison de donnees cliniques ou de laboratoire additionnelles) devrait etre prise par chacun des centres offrant le depistage, en fonction de l'experience et des ressources cliniques et de laboratoire locales. (III-A) 4. D'autres technologies de detection rapide de l'aneuploidie etant en mesure d'offrir un rendement semblable ou ameliore (pour ce qui est de la detection des trisomies 13, 18 et 21, et de l'aneuploidie des chromosomes sexuels) pourraient en venir a remplacer la QF-PCR. (III-A)

To review the effect of assisted human reproduction (AHR) on perinatal outcomes, to identify areas requiring further research with regard to birth outcomes and AHR, and to provide guidelines to optimize obstetrical management and counselling of prospective Canadian parents.This document compares perinatal outcomes of different types of AHR pregnancies with each other and with those of spontaneously conceived pregnancies. Clinicians will be better informed about the adverse outcomes that have been documented in association with AHR, including obstetrical complications, adverse perinatal outcomes, multiple gestations, structural congenital abnormalities, chromosomal abnormalities, and imprinting disorders.Published literature was retrieved through searches of MEDLINE and the Cochrane Library from January 2005 to December 2012 using appropriate controlled vocabulary and key words (assisted reproduction, assisted reproductive technology, ovulation induction, intracytoplasmic sperm injection, embryo transfer, and in vitro fertilization). Results were not restricted to systematic reviews, randomized control trials/controlled clinical trials, and observational studies; studies of all designs published in English from January 2005 to December 2012 were reviewed, and additional publications were identified from the bibliographies of these articles. Searches were updated on a regular basis and incorporated in the guideline to August 2013. Grey (unpublished) literature was identified through searching the websites of health technology assessment and health technology assessment-related agencies, clinical practice guideline collections, clinical trial registries, and national and international medical specialty societies.The quality of evidence in this document was rated using the criteria described in the Report of the Canadian Task Force on Preventive Health Care (Table 1). Summary Statements 1. There is increasing evidence that infertility or subfertility is an independent risk factor for obstetrical complications and adverse perinatal outcomes, even without the addition of assisted human reproduction. (II-2) 2. The relative risk for an imprinting phenotype such as Silver-Russell syndrome, Beckwith-Wiedemann syndrome, or Angelman syndrome is increased in the assisted reproduction population, but the actual risk for one of these phenotypes to occur in an assisted pregnancy is estimated to be low, at less than 1 in 5000. The exact biological etiology for this increased imprinting risk is likely heterogeneous and requires more research. (II-2) Recommendations 1. All men with severe oligozoospermia or azoospermia (sperm count5 million/hpf) should be offered genetic/clinical counselling, karyotype assessment for chromosomal abnormalities, and Y-chromosome microdeletion testing prior to in vitro fertilization with intracytoplasmic sperm injection. (II-2A) 2. All men with unexplained obstructive azoospermia should be offered genetic/clinical counselling and genetic testing for cystic fibrosis prior to in vitro fertilization with intracytoplasmic sperm injection. (II-2A) 3. Multiple pregnancy is the most powerful predictive factor for adverse maternal, obstetrical, and perinatal outcomes. Couples should be thoroughly counselled about the significant risks of multiple pregnancies associated with all assisted human reproductive treatments. (II-2A) 4. The benefits and cumulative pregnancy rates of elective single embryo transfer support a policy of using this protocol in couples with good prognosis for success, and elective single embryo transfer should be strongly encouraged in this population. (II-2A) 5. To reduce the incidence of multiple pregnancy, health care policies that support public funding for assisted human reproduction, with regulations promoting best practice regarding elective single embryo transfer, should be strongly encouraged. (II-2A) 6. Among singleton pregnancies, assisted reproductive technology is associated with increased risks of preterm birth and low birth weight infants, and ovulation induction is associated with an increased risk of low birth weight infants. Until sufficient research has clarified the independent roles of infertility and treatment for infertility, couples should be counselled about the risks associated with treatment. (II-2B) There is a role for closer obstetric surveillance of women who conceive with assisted human reproduction. (III-L) 7. There is growing evidence that pregnancy outcomes are better for cryopreserved embryos fertilized in vitro than for fresh embryo transfers. This finding supports a policy of elective single embryo transfer for women with a good prognosis (with subsequent use of cryopreserved embryos as necessary), and may reassure women who are considering in vitro fertilization. (II-2A) 8. Women and couples considering assisted human reproduction and concerned about perinatal outcomes in singleton pregnancies should be advised that (1) intracytoplasmic sperm injection does not appear to confer increased adverse perinatal or maternal risk over standard in vitro fertilization, and (2) the use of donor oocytes increases successful pregnancy rates in selected women, but even when accounting for maternal age, can increase the risks of low birth weight and preeclampsia. (II-2B) 9. Any assisted reproductive technology procedure should be prefaced by a discussion of fetal outcomes and the slight increase in the risk of congenital structural abnormalities, with emphasis on known confounding factors such as infertility and body mass index. (II-2B) 10. In pregnancies achieved by artificial reproductive technology, routine anatomic ultrasound for congenital structural abnormalities is recommended between 18 and 22 weeks. (II-2A) 11. Pregnancies conceived by intracytoplasmic sperm injection may be at increased risk of chromosomal aberrations, including sex chromosome abnormalities. Diagnostic testing should be offered after appropriate counselling. (II-2A) 12. The possible increased risk for late onset cancer due to gene dysregulation for tumour suppression requires more long-term follow-up before the true risk can be determined. (III-A) 13. The clinical application of preimplantation genetic testing in fertile couples must balance the benefits of avoiding disease transmission with the medical risks and financial burden of in vitro fertilization. (III-B) 14. Preimplantation screening for aneuploidy is associated with inconsistent findings for improving pregnancy outcomes. Any discussion of preimplantation genetic screening with patients should clarify that there is no adequate information on the long-term effect of embryo single cell biopsy. (I-C).

Objective: To determine whether obstetric admissions to the intensive care unit (ICU) are useful quality-assurance indicators. Methods: We analyzed retrospectively obstetric ICU admissions at two tertiary care centers from 1991 to 1997. Results: The 131 obstetric admissions represented 0.3% of all deliveries. The majority (78%) of women were admitted to the ICU postpartum. Obstetric hemorrhage (26%) and hypertension (21%) were the two most common reasons for admission. Together with cardiac disease, respiratory disorders, and infection, they accounted for more than 80% of all admissions. Preexisting medical conditions were present in 38% of all admissions. The median Acute Physiology and Chronic Health Evaluation II score was 8.5. The predicted mortality rate for the group was 10.0%, and the actual mortality rate was 2.3%. Conclusion: The most common precipitants of ICU admission were obstetric hemorrhage and uncontrolled hypertension. Improved management strategies for these problems may significantly reduce major maternal morbidity.

Objective To provide a review of published studies on the use of cell-free fetal DNA in maternal plasma for the non-invasive diagnosis of Down syndrome, trisomy 18, and trisomy 13. Evidence: PubMed was searched for articles published between 2006 and October 2012, using appropriate key words (e.g., non-invasive prenatal diagnosis, Down syndrome, cell-free fetal DNA, aneuploidy screening). Results were restricted to systematic reviews, randomized control trials/controlled clinical trials, and observational studies. Searches were updated on a regular basis and incorporated in the guideline to October 31, 2012. Grey (unpublished) literature was identified through searching the websites of health technology assessment and health technology assessment-related agencies, clinical practice guideline collections, clinical trial registries, and national and international medical specialty societies. Values: The studies reviewed were classified according to criteria described by the Canadian Task Force on Preventive Health Care, and the recommendations for practice were ranked according to this classification (Table 1).

To provide Canadian health care providers with current information on the use of quantitative fluorescent polymerase chain reaction (QF-PCR) or equivalent technology in the prenatal diagnosis of fetal chromosomal abnormalities.Over the last few decades, prenatal diagnosis of fetal chromosomal abnormalities has relied on conventional cytogenetic analysis of cultured amniocytes, chorionic villi, or fetal blood. In the last few years, the clinical validity of a newer technique, QF-PCR, to detect the common aneuploidies has been reported by a number of investigators. This technique has the advantage of providing rapid results for the diagnosis or exclusion of aneuploidy in chromosomes 13, 18, 21, X or Y. It is now possible to choose standard chromosome analysis or QF-PCR for the prenatal diagnosis of chromosomal abnormalities, or to perform both tests, depending on the clinical indication for testing. This document reviews the clinical utility of QF-PCR and makes recommendations for its use in the care of Canadian patients.Medline and PubMed were searched for articles published in English between January 2000 and December 2010 that presented data on the use of QF-PCR versus standard cytogenetic analysis of prenatal samples. A second search was done to identify publications in English that provided results of cytogenetic analysis performed on prenatal samples for women at an increased risk of fetal aneuploidy because of maternal age, abnormal prenatal screening results, or fetal soft ultrasound markers suggestive of an increased risk of aneuploidy. Publications were included if they provided detailed information on the abnormalities detected, regardless of whether or not rapid aneuploidy screening was undertaken. Results were restricted to systematic reviews, randomized controlled trials, and relevant observational studies. Grey (unpublished) literature was identified through searching the websites of health technology assessment and health technology assessment-related agencies, clinical practice guideline collections, clinical trial registries, and national and international medical specialty societies.The quality of evidence was rated using the criteria described in the Report of the Canadian Task Force on Preventive Health Care (Table 1).This guideline promotes the use of a rapid aneuploidy DNA test for women at increased risk of having a pregnancy affected by a common aneuploidy. This will have the benefit of providing rapid and accurate results to women at increased risk of fetal Down syndrome, trisomy 13, trisomy 18, sex chromosome aneuploidy or triploidy. It will also promote better use of laboratory resources and reduce the cost of prenatal diagnosis. However, a small percentage of pregnancies with a potentially clinically significant chromosomal abnormality will remain undetected by QF-PCR but detectable by conventional cytogenetics. Recommendations 1. QF-PCR is a reliable method to detect trisomies and should replace conventional cytogenetic analysis whenever prenatal testing is performed solely because of an increased risk of aneuploidy in chromosomes 13, 18, 21, X or Y. As with all tests, pretest counselling should include a discussion of the benefits and limitations of the test. In the initial period of use, education for health care providers will be required. (II-2A) 2. Both conventional cytogenetics and QF-PCR should be performed in all cases of prenatal diagnosis referred for a fetal ultrasound abnormality (including an increased nuchal translucency measurement3.5 mm) or a familial chromosomal rearrangement. (II-2A) 3. Cytogenetic follow-up of QF-PCR findings of trisomy 13 and 21 is recommended to rule out inherited Robertsonian translocations. However, the decision to set up a back-up culture for all cases that would allow for traditional cytogenetic testing if indicated by additional clinical or laboratory information should be made by each centre offering the testing according to the local clinical and laboratory experience and resources. (III-A) 4. Other technologies for the rapid detection of aneuploidy may replace QF-PCR if they offer a similar or improved performance for the detection of trisomy 13, 18, 21, and sex chromosome aneuploidy. (III-A).

To review the literature with respect to the use of diagnostic ultrasound in the management of twin pregnancies. To make recommendations for the best use of ultrasound in twin pregnancies.Reduction in perinatal mortality and morbidity and short- and long-term neonatal morbidity in twin pregnancies. Optimization of ultrasound use in twin pregnancies.Published literature was retrieved through searches of PubMed and the Cochrane Library in 2008 and 2009 using appropriate controlled vocabulary (e.g., twin, ultrasound, cervix, prematurity) and key words (e.g., acardiac, twin, reversed arterial perfusion, twin-to-twin transfusion syndrome, amniotic fluid). Results were restricted to systematic reviews, randomized control trials/controlled clinical trials, and observational studies. There were no date restrictions. Studies were restricted to those with available English or French abstracts or text. Searches were updated on a regular basis and incorporated into the guideline to September 2009. Grey (unpublished) literature was identified through searching the websites of health technology assessment and health technology assessment-related agencies, clinical practice guideline collections, clinical trial registries, and national and international medical specialty societies.The evidence collected was reviewed by the Diagnostic Imaging Committee of the Society of Obstetricians and Gynaecologists of Canada, with input from members of the Maternal Fetal Medicine Committee and the Genetics Committee of the SOGC. The recommendations were made according to the guidelines developed by The Canadian Task Force on Preventive Health Care (Table 1).The benefit expected from this guideline is facilitation and optimization of the use of ultrasound in twin pregnancy. SUMMARY STATEMENTS: 1. There are insufficient data to make recommendations on repeat anatomical assessments in twin pregnancies. Therefore, a complete anatomical survey at each scan may not be needed following a complete and normal assessment. (III) 2. There are insufficient data to recommend a routine preterm labour surveillance protocol in terms of frequency, timing, and optimal cervical length thresholds. (II-2) 3. Singleton growth curves currently provide the best predictors of adverse outcome in twins and may be used for evaluating growth abnormalities. (III) 4. It is suggested that growth discordance be defined using either a difference (20 mm) in absolute measurement in abdominal circumference or a difference of 20% in ultrasound-derived estimated fetal weight. (II-2) 5. Although there is insufficient evidence to recommend a specific schedule for ultrasound assessment of twin gestation, most experts recommend serial ultrasound assessment every 2 to 3 weeks, starting at 16 weeks of gestation for monochorionic pregnancies and every 3 to 4 weeks, starting from the anatomy scan (18 to 22 weeks) for dichorionic pregnancies. (II-1) 6. Umbilical artery Doppler may be useful in the surveillance of twin gestations when there are complications involving the placental circulation or fetal hemodynamic physiology. (II-2) 7. Although many methods of evaluating the level of amniotic fluid in twins (deepest vertical pocket, single pocket, amniotic fluid index) have been described, there is not enough evidence to suggest that one method is more predictive than the others of adverse pregnancy outcome. (II-3) 8. Referral to an appropriate high-risk pregnancy centre is indicated when complications unique to twins are suspected on ultrasound. (II-2) These complications include: 1. Twin-to-twin transfusion syndrome 2. Monoamniotic twins gestation 3. Conjoined twins 4. Twin reversed arterial perfusion sequence 5. Single fetal death in the second or third trimester 6. Growth discordance in monochorionic twins. Recommendations 1. All patients who are suspected to have a twin pregnancy on first trimester physical examination or who are at risk (e.g., pregnancies resulting from assisted reproductive technologies) should have first trimester ultrasound performed. (II-2A) 2. Every attempt should be made to determine and report amnionicity and chorionicity when a twin pregnancy is identified. (II-2A) 3. Although the accuracy in confirmation of gestational age at the first and second trimester is comparable, dating should be done with first trimester ultrasound. (II-2A) 4. Beyond the first trimester, it is suggested that a combination of parameters rather than a single parameter should be used to confirm gestational age. (II-2C) 5. When twin pregnancy is the result of in vitro fertilization, accurate determination of gestational age should be made from the date of embryo transfer. (II-1A) 6. There is insufficient evidence to make a recommendation of which fetus (when discordant for size) to use to date a twin pregnancy. However, to avoid missing a situation of early intrauterine growth restriction in one twin, most experts agree that the clinician may consider dating pregnancy using the larger fetus. (III-C) 7. In twin pregnancies, aneuploidy screening using nuchal transluscency measurements should be offered. (II-2B) 8. Detailed ultrasound examination to screen for fetal anomalies should be offered, preferably between 18 and 22 weeks' gestation, in all twin pregnancies. (II-2B) 9. When ultrasound is used to screen for preterm birth in a twin gestation, endovaginal ultrasound measurement of the cervical length should be performed. (II-2A) 10. Increased fetal surveillance should be considered when there is either growth restriction diagnosed in one twin or significant growth discordance. (II-2A) 11. Umbilical artery Doppler should not be routinely offered in uncomplicated twin pregnancies. (I-E) 12. For defining oligohydramnios and polyhydramnios, the ultrasonographer should use the deepest vertical pocket in either sac: oligohydramnios when2 cm and polyhydramnios when8 cm. (II-2B).

Resume Objectif Analyser le risque d'infection in utero attribuable aux interventions effractives prenatales chez les femmes qui presentent des infections par le virus de l'hepatite B, le virus de l'hepatite C et/ou le virus de l'immunodeficience humaine (VIH). Issues Morbidite et mortalite foetales et neonatales. Resultats La litterature publiee a ete recuperee par l'intermediaire de recherches menees dans Medline, CINAHL et The Cochrane Library au moyen d'un vocabulaire controle (p. ex. « amniocentesis », « chorionic villus sampling », « cordocentesis », « fetal and neonatal infection ») et de mots cles (p. ex. « hepatitis B », « hepatitis C », « HIV ») appropries. Les resultats ont ete restreints aux analyses systematiques, aux essais comparatifs randomises / essais cliniques comparatifs et aux etudes observationnelles publies en anglais ou en francais entre 2002 et 2012 (les etudes publiees entre 1966 et 2002 ont deja fait l'objet d'une analyse dans le cadre de la directive clinique n° 123). Les recherches ont ete mises a jour de facon reguliere et integrees a la directive clinique jusqu'en fevrier 2014. La litterature grise (non publiee) a ete identifiee par l'intermediaire de recherches menees dans les sites Web d'organismes s'interessant a l'evaluation des technologies dans le domaine de la sante et d'organismes connexes, dans des collections de directives cliniques, dans des registres d'essais cliniques et aupres de societes de specialite medicale nationales et internationales. Valeurs La qualite des resultats est evaluee au moyen des criteres decrits dans le rapport du Groupe d'etude canadien sur les soins de sante preventifs (Tableau). Recommandations 1.Pour l'evaluation du risque prenatal chez les femmes infectees par le virus de l'hepatite B, le virus de l'hepatite C et/ou le virus de l'immunodeficience humaine, il est recommande d'utiliser des methodes non effractives qui font appel a des tests comptant une sensibilite elevee et un faible taux de faux positif (comme le depistage serique combine [ou non] a la mesure de la clarte nucale, l'echographie anatomique et le depistage prenatal moleculaire non effractif). (III-B) 2.Dans le cas des femmes infectees par le virus de l'hepatite B, le virus de l'hepatite C et/ou le virus de l'immunodeficience humaine qui doivent subir une amniocentese, aucun effort ne devrait etre menage pour faire en sorte d'eviter d'inserer l'aiguille au travers du placenta ou tres pres de ce dernier. (II-2B) 3.Nous ne disposons que de peu de donnees au sujet des autres interventions effractives prenatales diagnostiques et therapeutiques; nous devrions donc proceder a l'analyse des risques et des avantages de telles interventions avant de les utiliser. (III-C) 4.Le taux d'infection neonatale par le virus de l'hepatite B qui est attribuable a l'amniocentese peut atteindre jusqu'a 1,4 % chez les nouveau-nes issus de meres seropositives pour l'antigene de surface de l'hepatite B. Toutefois, le taux d'infection neonatale attribuable a l'amniocentese chez les nouveau-nes issus de meres seropositives pour l'antigene e de l'hepatite B pourrait atteindre pas moins de 16 %. Bien que l'on n'ait constate aucune difference significative sur le plan statistique en matiere de taux d'infection entre les nouveau-nes exposes a l'amniocentese et ceux qui ne l'ont pas ete, au sein de ces deux populations maternelles, le fait de connaitre l'etat serologique de la mere quant a l'antigene e de l'hepatite B pourrait se reveler utile au moment de lui offrir des renseignements au sujet des risques associes a l'amniocentese. (II-2A) 5.Chez les femmes infectees par le virus de l'hepatite C, la tenue d'une amniocentese ne semble pas entrainer une hausse significative du risque de transmission verticale; quoi qu'il en soit, les femmes devraient etre avisees que tres peu d'etudes se sont adequatement penchees sur une telle possibilite. (II-2C) La tenue d'autres recherches a ce sujet est recommandee. (III-L) 6.Chez les femmes infectees par le virus de l'immunodeficience humaine qui font l'objet d'un traitement antiretroviral combine, l'amniocentese ne semble pas entrainer une hausse significative du risque de transmission verticale, particulierement lorsque la charge virale est indetectable; quoi qu'il en soit, les femmes devraient etre avisees que nous ne disposons que de peu de donnees sur le sujet. (II-2B) 7.Chez les femmes qui ne font pas l'objet d'un traitement antiretroviral combine, la tenue d'une amniocentese entraine la hausse du risque de transmission verticale. Dans la mesure du possible, l'administration d'un traitement antiretroviral combine devrait etre entamee et la tenue de l'amniocentese devrait etre differee jusqu'a ce que la charge virale devienne indetectable. Les autres aspects de la prise en charge devraient etre personnalises en consultation avec des specialistes en maladies infectieuses et des obstetriciens. (III-B)

Objective To review the evidence and provide recommendations for the counselling and management of obese parturients. Outcomes Outcomes evaluated include the impact of maternal obesity on the provision of antenatal and intrapartum care, maternal morbidity and mortality, and perinatal morbidity and mortality. Evidence Literature was retrieved through searches of Statistics Canada, Medline, and The Cochrane Library on the impact of obesity in pregnancy on antepartum and intrapartum care, maternal morbidity and mortality, obstetrical anaesthesia, and perinatal morbidity and mortality. Results were restricted to systematic reviews, randomized controlled trials/controlled clinical trials, and observational studies. There were no date or language restrictions. Searches were updated on a regular basis and incorporated in the guideline to April 2009. Grey (unpublished) literature was identified through searching the websites of health technology assessment and health technology assessment-related agencies, clinical practice guideline collections, clinical trial registries, and national and international medical specialty societies. Values The evidence obtained was reviewed and evaluated by the Maternal Fetal Medicine and Clinical Practice Obstetric Committees of the SOGC under the leadership of the principal authors, and recommendations were made according to guidelines developed by the Canadian Task Force on Preventive Health Care. Benefits, Harms, and Costs Implementation of the recommendations in this guideline should increase recognition of the issues clinicians need to be aware of when managing obese women in pregnancy, improve communication and consultation amongst the obstetrical care team, and encourage federal and provincial agencies to educate Canadians about the values of entering pregnancy with as healthy a weight as possible. Recommendations 1.Periodic health examinations and other appointments for gynaecologic care prior to pregnancy offer ideal opportunities to raise the issue of weight loss before conception. Women should be encouraged to enter pregnancy with a BMI 2 , and ideally 2 . (III-B) 2.BMI should be calculated from pre-pregnancy height and weight. Those with a pre-pregnancy BMI > 30 kg/m 2 are considered obese. This information can be helpful in counselling women about pregnancy risks associated with obesity. (II-2B) 3.Obese pregnant women should receive counselling about weight gain, nutrition, and food choices. (II-2B) 4.Obese women should be advised that they are at risk for medical complications such as cardiac disease, pulmonary disease, gestational hypertension, gestational diabetes, and obstructive sleep apnea. Regular exercise during pregnancy may help to reduce some of these risks. (II-2B) 5.Obese women should be advised that their fetus is at an increased risk of congenital abnormalities, and appropriate screening should be done. (II-2B) 6.Obstetric care providers should take BMI into consideration when arranging for fetal anatomic assessment in the second trimester. Anatomic assessment at 20 to 22 weeks may be a better choice for the obese pregnant patient. (II-2B) 7.Obese pregnant women have an increased risk of Caesarean section, and the success of vaginal birth after Caesarean section is decreased. (II-2B) 8.Antenatal consultation with an anaesthesiologist should be considered to review analgesic options and to ensure a plan is in place should a regional anaesthetic be chosen. (III-B) 9.The risk of venous thromboembolism for each obese woman should be evaluated. In some clinical situations, consideration for thromboprophylaxis should be individualized. (III-B)

Resume Objectif Fournir une analyse des etudes publiees sur l'utilisation de l'ADN fœtal acellulaire se trouvant dans le plasma maternel aux fins du diagnostic non effractif du syndrome de Down, de la trisomie 18 et de la trisomie 13. Resultats: Des recherches ont ete menees dans PubMed en vue d'en tirer des articles publies entre 2006 et octobre 2012, au moyen de mots cles appropries (p. ex. « non-invasive prenatal diagnosis », « Down syndrome », « cell-free fetal DNA », « aneuploidy screening »). Les resultats ont ete restreints aux analyses systematiques, aux essais comparatifs randomises / essais cliniques comparatifs et aux etudes observationnelles. Les recherches ont ete mises a jour de facon reguliere et integrees a la directive clinique jusqu'au 31 octobre 2012. La litterature grise (non publiee) a ete identifiee par l'intermediaire de recherches menees dans les sites Web d'organismes s'interessant a l'evaluation des technologies dans le domaine de la sante et d'organismes connexes, dans des collections de directives cliniques, dans des registres d'essais cliniques et aupres de societes de specialite medicale nationales et internationales. Valeurs Les etudes analysees ont ete classees conformement aux criteres decrits par le Groupe d'etude canadien sur les soins de sante preventifs et les recommandations visant la pratique ont ete evaluees en fonction de cette classification (Tableau).

Background It is generally accepted that the risk of cerebral palsy decreases with increasing gestational age of live born infants. However, recent studies have shown that cerebral palsy often has prenatal antecedents including congenital malformations, vascular insults and maternal infection. Cerebral palsy is therefore better viewed as occurring among fetuses, rather than among infants. We explored the epidemiologic implications of this change in perspective. Methods We used recently published data from Shiga Prefecture, Japan and from North-East England to examine the pattern of gestational age-specific rates of cerebral palsy under these alternative perspectives. We first calculated gestational age-specific rates of cerebral palsy as per convention, by dividing the number of cases of cerebral palsy identified among live births within any gestational age category by the number of live births in that gestational age category. Under the alternative formulation, we calculated gestational age-specific rates of cerebral palsy by dividing the number of cases of cerebral palsy identified among live births within any gestational age category by the number of fetuses who were at risk of being born at that gestation and being afflicted with cerebral palsy. Results Under the conventional formulation, cerebral palsy rates decreased with increasing gestational age from 63.9 per 1,000 live births at Conclusions The fetuses-at-risk approach is the appropriate epidemiologic formulation for calculating the gestational age-specific rate of cerebral palsy from a causal perspective. It shows that the risk of cerebral palsy increases as gestational duration increases. This compelling view of cerebral palsy risk may help refocus research aimed at understanding and preventing cerebral palsy.

Objective To review the literature with respect to the use of diagnostic ultrasound in the management of twin pregnancies. To make recommendations for the best use of ultrasound in twin pregnancies Outcomes Reduction in perinatal mortality and morbidity and short- and long-term neonatal morbidity in twin pregnancies. Optimization of ultrasound use in twin pregnancies. Evidence Published literature was retrieved through searches of PubMed and the Cochrane Library in 2008 and 2009 using appropriate controlled vocabulary (e. g., twin, ultrasound, cervix, prematurity) and key words (e. g., acardiac, twin, reversed arterial perfusion, twin-to-twin transfusion syndrome, amniotic fluid). Results were restricted to systematic reviews, randomized control trials/controlled clinical trials, and observational studies. There were no date restrictions. Studies were restricted to those with available English or French abstracts or text. Searches were updated on a regular basis and incorporated into the guideline to September 2009. Grey (unpublished) literature was identified through searching the websites of health technology assessment and health technology assessment-related agencies, clinical practice guideline collections, clinical trial registries, and national and international medical specialty societies. Values The evidence collected was reviewed by the Diagnostic Imaging Committee of the Society of Obstetricians and Gynaecologists of Canada, with input from members of the Maternal Fetal Medicine Committee and the Genetics Committee of the SOGC. The recommendations were made according to the guidelines developed by The Canadian Task Force on Preventive Health Care (Table 1). Benefits, harms, and costs The benefit expected from this guideline is facilitation and optimization of the use of ultrasound in twin pregnancy.