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Routine screening for intimate partner violence (IPV) has been widely introduced in health settings, yet screening rates are often low. A screening policy was introduced statewide in Australia in antenatal, mental health, and substance abuse services. Annual snapshot indicates a sustained screening rate of 62%–75% since 2003. Focus group research with health care workers from 10 services found that initial introduction of screening was facilitated by brief, scripted questions embedded into assessment schedules, training, and access to referral services. Over time, familiarity and women’s favorable reactions reinforced practice. Barriers remain, including lack of privacy, tensions about limited confidentiality, and frustration when women remain unsafe. Screening added to the complexity of work, but was well accepted by workers, and increased awareness of and responsiveness to IPV. [ABSTRACT FROM AUTHOR]

The spectrum of hemolytic disease of the newborn has changed over the last few decades. With the implementation of Rhesus D immunoprophylaxis, hemolytic disease due to ABO incompatibility and other alloantibodies has now emerged as major causes of this condition. Though in developing countries, anti D is still a common antibody in pregnant women, many Asian countries have identified alloantibodies other than anti D as a cause of moderate-severe hemolytic disease. The most concerned fact is that, some of these have been described in Rh D positive women. It appears that universal antenatal screening in all pregnant women needs to be initiated, since Rh D positive women are just as likely as D negative women to form alloantibodies. Many developed nations have national screening programs for pregnant women. This is necessary to ensure timely availability of antigen negative blood and reduce effects on the newborn. Although universal screening seems justified, the cost and infrastructure required would be immense. Developing countries and under resourced nations need to consider universal antenatal screening and frame guidelines accordingly. [ABSTRACT FROM AUTHOR]

Abstract: In the past two decades second-trimester maternal serum screening for Down syndrome has been the most common strategy for prenatal diagnosis of chromosomal aneuploidies. More recently, screening for and diagnosis of chromosomal abnormalities have increasingly been performed in the first trimester. With improvements and technological advances in ultrasound, it is now possible to identify many fetal anomalies at 11–13weeks of gestation. During the same period biochemical markers in maternal serum (PAPP-A and hCGβ) combined with sonographic measurement of nuchal translucency achieve a Down syndrome detection rate of 85% with a 5% false-positive rate. We describe here the potential of first-trimester markers to screen for Down syndrome as well as other adverse outcomes such as fetal loss, pre-eclampsia, intrauterine growth retardation, and preterm delivery. This early consultation may be the opportunity to help counsel patients and to screen for other adverse complications during pregnancy, such as pre-eclampsia, and to manage potential adverse pregnancy outcomes. [Copyright &y& Elsevier]

Abstract: Objective: To assess whether a simple screen-and-treat strategy in pregnancy, previously tested in a randomised controlled study, also effectively lowers the rate of preterm delivery under real-life conditions. Study design: In a retrospective cohort study, data were enrolled of 2986 women with singleton pregnancies presenting for routine antenatal care between 11 and 24 weeks and registering for delivery. Data of 1273 women in the intervention group were collected between 1 September 2004 and 31 August 2005. The data of 1713 women in the control group had been collected 2 years previously. All women were screened for asymptomatic vaginal infection using Gram stain, differentiating between bacterial vaginosis, vaginal candidiasis, trichomoniasis, or combinations of any of the three. Women with infection received standard treatment and follow-up. Prenatal care was the same for women in the intervention and control groups, the only difference being the absence of screening and treating for vaginal infection in the control group. The primary outcome variable was the rate of preterm delivery at less than 37 weeks. Secondary outcome variables were preterm delivery at less than 37 weeks combined with birth weights ≤2500g, ≤2000g, ≤1500g, or ≤1000g. Results: In the intervention group, the rate of preterm birth was significantly lower than in the control group (8.2% vs. 12.1%, p <0.0001), as was the number of preterm infants with birth weights of 2500g or below. Also, a significant difference between groups was found for very preterm deliveries, i.e., those occurring before 33 weeks (1.9% vs. 5.4%, p <0.0001). Conclusion: Integration of a simple screen-and-treatment programme for common vaginal infections into routine antenatal care led to a significant reduction in preterm births in a general population of pregnant women. [ABSTRACT FROM AUTHOR]

Objective: Most fetuses with congenital heart disease (CHD) occur in women that are not at increased risk, and since it is impractical to perform detailed fetal echocardiography on everyone, detection of CHD relies mainly on routine second trimester fetal anatomic surveys. We therefore attempted to improve the detection rate of CHD at the time of routine second trimester obstetrical sonography in low-risk patients. Methods: This was a retrospective review of an 18-month period in which color Doppler was added to the standard grey scale evaluation of the fetal heart at the time of our routine second trimester anatomic surveys that we performed on fetuses at low risk for CHD. Cases in which CHD was suspected were reviewed with special attention to those in which abnormalities on color Doppler were the primary finding. Results: CHD was suspected in 17 of 1,766 (1%) routine fetal anatomic surveys that we performed between 16 and 22 weeks. There were 13 cases with findings on grey scale, and 4 cases (24%) that relied on findings with color Doppler, as the grey scale evaluation was normal or near normal. Of these 4 cases, 3 had critical pulmonic stenosis requiring balloon valvuloplasty shortly after birth; the fourth case had a mildly dysplastic pulmonic valve that did not require intervention in the immediate newborn period. Conclusions: The addition of color Doppler evaluation of the fetal heart to routine obstetrical sonographic structural surveys in low-risk patients aids in the detection of pulmonic stenosis. Copyright © 2010 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

The article introduces a report by Caroline Crowther that is concerned with screening for group B streptococcus.

Gestational diabetes mellitus (GDM) is defined as any degree of glucose intolerance with onset or first recognition during pregnancy. Women with GDM and their offspring have an increased risk of developing type 2 diabetes mellitus in the future. The global incidence of GDM is difficult to estimate, due to lack of uniform diagnostic criteria. Various diagnostic criteria have been proposed. The benefit of treating GDM has also been controversial. The clinical significance of treating maternal hyperglycemia was made evident in the Hyperglycemia and Adverse Pregnancy Outcomes (HAPO) study. The HAPO study demonstrated that there is a continuous association of maternal glucose levels with adverse pregnancy outcomes and served as the basis for a new set of diagnostic criteria, proposed in 2010 by the International Association of Diabetes and Pregnancy Groups (IADPSG). According to these criteria the diagnosis of GDM is made if there is at least one abnormal value (≥92, 180 and 153 mg/dl for fasting, one-hour and two-hour plasma glucose concentration respectively), after a 75 g oral glucose tolerance test (OGTT). [ABSTRACT FROM AUTHOR]

Pulse oximetry screening (POS) has been proposed as an effective, noninvasive, inexpensive tool allowing earlier diagnosis of critical congenital heart disease (cCHD). Our aim was to test the hypothesis that POS can reduce the diagnostic gap in cCHD in daily clinical routine in the setting of tertiary, secondary and primary care centres. We conducted a prospective multicenter trial in Saxony, Germany. POS was performed in healthy term and post-term newborns at the age of 24-72 h. If an oxygen saturation (SpO(2)) of

Please cite this paper as: Cipriano L, Barth W, Zaric G. The cost-effectiveness of targeted or universal screening for vasa praevia at 18–20 weeks of gestation in Ontario. BJOG 2010;117:1108–1118. Objectives To estimate the cost-effectiveness of targeted and universal screening for vasa praevia at 18–20 weeks of gestation in singleton and twin pregnancies. Design Cost–utility analysis based on a decision-analytic model comparing relevant strategies and life-long outcomes for mother and infant(s). Setting Ontario, Canada. Population A cohort of pregnant women in 1 year. Methods We constructed a decision-analytic model to estimate the lifetime incremental costs and benefits of screening for vasa praevia. Inputs were estimated from the literature. Costs were collected from the London Health Sciences Centre, the Ontario Health Insurance Program, and other sources. We used one-way, scenario and probabilistic sensitivity analysis to determine the robustness of the results. Main outcome measures Incremental costs, life expectancy, quality-adjusted life-years (QALY) and incremental cost-effectiveness ratio (ICER). Results Universal transvaginal ultrasound screening of twin pregnancies has an ICER of $5488 per QALY-gained. Screening all singleton pregnancies with the risk factors low-lying placentas, in vitro fertilisation (IVF) conception, accessory placental lobes, or velamentous cord insertion has an ICER of $15,764 per QALY-gained even though identifying some of these risk factors requires routine use of colour Doppler during transabdominal examinations. Screening women with a marginal cord insertion costs an additional $27,603 per QALY-gained. Universal transvaginal screening for vasa praevia in singleton pregnancies costs $579,164 per QALY compared with targeted screening. Conclusions Compared with current practice, screening all twin pregnancies for vasa praevia with transvaginal ultrasound is cost-effective. Among the alternatives considered, the use of colour Doppler at all transabdominal ultrasound examinations of singleton pregnancies and targeted use of transvaginal ultrasound for IVF pregnancies or when the placenta has been found to be associated with one or more risk factors is cost-effective. Universal screening of singleton pregnancies is not cost-effective compared with targeted screening. [ABSTRACT FROM AUTHOR]

Abstract: Objectives: To (1) develop algorithms to calculate the risk of shoulder dystocia at individual deliveries; (2) evaluate screening for shoulder dystocia. Study design: Retrospective analysis of 40284 consecutive term cephalic singleton pregnancies using a ‘train and test’ method. Four models were derived using logistic regression and tested (birthweight alone; birthweight and other independent antenatal variables; birthweight and all independent antenatal and intrapartum variables; and all independent variables excluding birthweight). Results: Shoulder dystocia occurred in 240 deliveries (0.6%). Birthweight was the most important risk factor although 98 cases (41%) occurred in babies weighing <4.0kg. Birthweight and maternal height were the only independent antenatal variables; for intrapartum use, only these and instrumental delivery were independent. The antenatal model could calculate an individual''s risk; the intrapartum model could also calculate the risk if an instrumental delivery were undertaken. Both showed 0.7% women to have a risk of shoulder dystocia of >10%. Although the antenatal model had high predictability (area under curve 0.89), it was no better than birthweight alone and had a sensitivity of 52.4%. Where birthweight was excluded, prediction of shoulder dystocia was poor. Conclusion: Antepartum and labour calculation of the risk of shoulder dystocia is possible. Whilst greatly hindered by the inaccuracy of estimating weight, it allows due weight to be given to factors which may already be influencing clinical practice. However, shoulder dystocia cannot be predicted with sufficient accuracy to allow universal screening. [Copyright &y& Elsevier]

Copyright of IBS, Immuno-analyse & Biologie Specialisee is the property of Elsevier B.V. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of IBS, Immuno-analyse & Biologie Specialisee is the property of Elsevier B.V. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

We tested whether group B streptococcus (GBS) screening is performed as recommended by the Centers for Disease Control and Prevention (CDC) and evaluated the need for a rapid GBS test for women with full-term pregnancies. A retrospective cohort analysis at a single, large academic institution was performed. Women who delivered full-term (>37 weeks) infants and had documented prenatal care were included. The primary outcome was documented screening. One hundred sixty-five full-term pregnancies were included; 158 women [95.76%; 95% confidence interval (CI), 92.68 to 98.83%] were screened prior to presentation at labor and delivery. This frequency was significantly greater than the a priori hypothesis of 90% (p=0.01). Of the 158 women ever screened, 15 had GBS bacteriuria and 143 had genital culture performed. However, only 118 of the 143 (80.61%; 95% CI, 74.57 to 86.64%) were cultured at the appropriate time as recommended by the CDC (between 35 and 37 weeks). This screening frequency was significantly lower than the a priori hypothesis of 90% (p<0.001). Most full-term women presenting to labor and delivery have been screened for GBS. However, screening performed at the appropriate gestational age per CDC recommendations was lower than expected. Rapid GBS testing does not appear to be necessary for this population. [ABSTRACT FROM AUTHOR]

Objective Our aim was to clarify and categorize information and decision support needs of pregnant women deciding about amniocentesis. Background Prenatal screening for Down’s syndrome (implemented in routine practice) generates a quantifiable risk of chromosome abnormality. To increase certainty, chromosomal material needs to be obtained through amniocentesis or other diagnostic test. Amniocentesis carries risks of pregnancy loss. Methods Semi-structured interviews were conducted with health professionals and pregnant women who had considered amniocentesis. The data were qualitatively analysed using a two-step thematic content analysis. Results A sample of 17 health professionals and 17 pregnant women were interviewed. Professionals demonstrated little consensus regarding the miscarriage rate, the potential consequences of amniocentesis testing and the uncertainty associated with the tests. Furthermore, methods employed to communicate risks varied between professionals. Pregnant women reported heightened stress and anxiety. Twelve out of 17 women described the decision as complex and difficult to make while five participants were satisfied with the information and support provided. Women would have liked more information about the risks involved, the results, the consequences of an amniocentesis and associated emotional difficulties. Women highlighted the need for personalized information, presented in multiple ways, while remaining simple and unbiased. Conclusions There is variation in the provision of information related to amniocentesis testing. The majority of pregnant women reported difficulties making a decision and identified dimensions of information and decision support where improvements were needed. [ABSTRACT FROM AUTHOR]

Copyright of Revue Francophone des Laboratoires is the property of Elsevier B.V. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

The article discusses the importance of antenatal screening to women with hepatitis C virus (HCV) infection in Great Britain. It states that screening can save lives or ameliorate the quality of life by early diagnosis of serious conditions. It notes that screening does not apply to all known conditions despite the benefits it can offer to the person. There are certain criteria that need to be met before a screening program can be enforced. For several reasons, there are some infectious diseases for which antenatal screening is not recommended including cytomegalovirus, toxoplasmosis and HCV.

Objectives A mixture model of crown-rump length (CRL)-dependent and CRL-independent nuchal translucency (NT) measurements has been proposed for antenatal screening for Down's syndrome. We here compare the efficacy of the mixture model method with the standard method, which uses NT multiple of the median (MoM) values in a single distribution. Settings A routine antenatal screening programme for Down's syndrome comprising 104 affected and 22,284 unaffected pregnancies. Methods The ability of NT to distinguish between affected and unaffected pregnancies was compared using the mixture model method and the standard MoM method by using published distribution parameters for the mixture model of NT and parameters derived from these for the standard MoM method. The accuracy of the two methods was compared for NT and maternal age by comparing the median estimated risk with the prevalence of Down's syndrome in different categories of estimated risk. Results Using NT alone observed estimates of discrimination using the two methods are similar; at a 70% detection rate the false-positive rates were 12% using the mixture model method and 10% using the MoM method. Risk estimation was marginally (but not statistically significantly) more accurate using the standard MoM method. Conclusions The mixture model method offers no advantage over the standard MoM method in antenatal screening for Down's syndrome, is more complicated and less generalizable to other data-sets. The standard MoM method remains the method of choice. [ABSTRACT FROM AUTHOR]

Objective To determine whether the standard deviation of nuchal translucency (NT) measurements has decreased over time and if so to revise the estimate and assess the effect of revising the estimate of the standard deviation on the performance of antenatal screening for Down's syndrome. Setting Data from a routine antenatal screening programme for Down's syndrome comprising 106 affected and 22,640 unaffected pregnancies. Methods NT measurements were converted into multiple of the median (MoM) values and standard deviations of log10 MoM values were calculated in affected and unaffected pregnancies. The screening performance of the Combined and Integrated tests (that include NT measurement) were compared using previous and revised estimates of the standard deviation. Results The standard deviation of NT in unaffected pregnancies has reduced over time (from 1998 to 2008) (e.g. from 0.1329 to 0.1105 [log10 MoM] at 12-13 completed weeks of pregnancy, reducing the variance by about 30%). This was not observed in affected pregnancies. Compared with results from the serum, urine and ultrasound screening study (SURUSS), use of the revised NT standard deviations in unaffected pregnancies resulted in an approximate 20% decrease in the false-positive rate for a given detection rate; for example, from 2.1% to 1.7% (a 19% reduction) at a 90% detection rate using the Integrated test with first trimester markers measured at 11 completed weeks' gestation and from 4.4% to 3.5% (a 20% reduction) at an 85% detection rate using the Combined test at 11 completed weeks. Conclusions The standard deviation of NT has declined over time and using the revised estimates improves the screening performance of tests that incorporate an NT measurement. [ABSTRACT FROM AUTHOR]

Abstract: Purpose: The present study aims to investigate the presence of common submicroscopic chromosomal rearrangements in fetuses with ultrasound abnormalities or positive screening in the first trimester and normal karyotype. We used the multiplex ligation-dependent probe amplification (MLPA) technique with subtelomeric (SALSA P036B) and microdeletion syndrome (SALSA P064B/P096) probe mixes as a screening method to measure copy number changes on the tested probes in chorionic villus sampling. MLPA with P036B and P064/P096 probe mixes was performed on 49 chorionic villi DNA samples obtained between the 11th and 13th week of gestation. Results: The MLPA analyses did not detect any diminished or increased intensity for all the tested probes in the samples. Conclusions: Our results suggest that the common submicroscopic “genomic disorders” (microdeletion and microduplication syndromes) would not be frequently detected in the first trimester anomalies screening. [Copyright &y& Elsevier]

AIMS: To describe the experience of the Toxoplasmosis Laboratory of Infectious Disease Department University of Pavia, IRCCS Foundation, San Matteo Polyclinic Pavia, a reference laboratory for diagnosis of toxoplasmosis, in the investigation of women with suspected acute toxoplasmosis. METHODS: All sera were tested with LIAISON® Toxo IgM and IgG II, Toxo IgG Avidity II kits (DiaSorin, Saluggia, Italy), VIDAS Toxo IgG II and Toxo IgG Avidity (bioMérieux, Marcy l'Etoile, France ), IgM ISAGA (bioMérieux, Marcy l'Etoile, France) and ETI-TOXOK-A reverse PLUS (DiaSorin, Saluggia, Italy). When required (IgG negative/IgM positive women), IgG/IgM Western Blot II (LDBio, Lyon, France) was also performed. Prenatal diagnosis on amniotic fluid was done by nested PCR. All newborns were followed up to one year of age in order to exclude or confirm the diagnosis of congenital toxoplasmosis. All pregnant women with acute or undetermined stages of infection were treated. RESULTS: In the course of 2007, 236 women with suspected acute (IgM-positive) Toxoplasma infection were followed up. In the reference laboratory, 91 women had test results indicating acute toxoplasmosis, and 10 had undetermined status of infection. These 101 patients represented 42.8% of the 236 women referred. Acute toxoplasmosis could be excluded in the remaining 135 patients, of whom 53 were non-immune. Three infected newborns were observed, all from mothers tested for the first time during the third trimester of pregnancy. CONCLUSIONS: The role of a reference laboratory in suspected toxoplasmosis acquired during pregnancy is crucial to date the infection and discriminate between seroconversion and false positive anti-Toxoplasma IgM antibodies. This avoids unnecessary anxiety in immune women, provides correct counseling about primary prevention and periodic testing for seronegative ones, and allows early treatment and follow-up of pregnant women with acute infection and their newborns. [ABSTRACT FROM AUTHOR]

Abstract: Objective: Prenatal diagnosis of cleft lip and palate has been available for over 25 years. 3D ultrasound has significantly improved prenatal screening and perinatal care. Surface rendering of the fetal face is frequently asked by parents during exam and it has been shown to substantially improve parental-fetal bonding. However, little is known about the parental impact of surface ultrasound of the abnormal fetal face. We thus decided to assess parental feelings after 3D surface rendering of the fetal face in cleft lip and palate. Patient(s) and method: Between January 2003 and December 2006, a questionnaire was systematically proposed after birth to the parents who had 3D examination during pregnancy for lip and cleft palate. Analysis of results was performed retrospectively. Results: Twenty-three couples answered to inclusion criteria, 12 have been contacted, 9 responded. 3D ultrasound was not perceived as disturbing in 78% of parents. On the contrary 3D pictures had a positive effect and better prepare parents to birth. All of them even more considered that it should be systematically performed. Discussion and conclusion: Prenatal diagnosis of cleft lip and palate is known to improve parental well-being during the perinatal period. Furthermore, in addition to improved diagnosis, 3D ultrasound also provides a better understanding and acceptance of the malformation than 2D examination. The parental impact of 3D ultrasound is positive supporting and strengthening a systematic use in isolated fetal lip and cleft palate. [Copyright &y& Elsevier]

Abstract: Antenatal care has been the subject of much interest, both medical and political, since its inception at the beginning of the 20th century. Evidence-based guidelines are now influencing the content and conduct of antenatal care, and of screening for pregnancy complications – both maternal and fetal. This review assesses those aspects of antenatal management at the booking visit that are considered routine for every pregnant woman, identifying areas of proven benefit. [Copyright &y& Elsevier]

The article discusses research being done on prenatal carrier screening. It references the study "Modeled Fetal Risk of Genetic Diseases Identified by Expanded Carrier Screening," by I.S. Haque et al. in the 2016 issue of "JAMA: Journal of the American Medical Association." Topics addressed include the use of carrier screening by prospective parents, the guidelines for the implementation of routine population carrier screening, and the use of molecular genetic technology in prenatal care.

Objective: To report the strategy of first-trimester aneuploidy screening in pregnancies at risk for homozygous α(0)-thalassemian.Methods: Women at risk of homozygous α(0)-thalassemia were given an ultrasound examination at 11-14 weeks' gestation to exclude an affected pregnancy. Fetal cardiothoracic ratio (CTR) and nuchal translucence (NT) were measured. If cardiomegaly was found, chorionic villus sampling (CVS) was offered for α-thalassemia; otherwise the first-trimester combined screening test was performed on the pregnancy. The invasive testing for karyotyping was only followed in those cases with a positive aneuploidy screening test.Results: In total, 69 of 288 pregnancies were found to be affected by homozygous α(0)-thalassemia using ultrasound, and the findings were confirmed by invasive testing. In the remaining 219 pregnancies, invasive testing was not performed for α-thalassemia because of a normal fetal CTR, and the women received the first-trimester combined screening. Nine CVS procedures were performed for karyotyping because of a positive aneuploidy screening. Totally three pregnancies with aneuploidy were diagnosed and terminated.Conclusions: Our strategy can selectively detect aneuploidy pregnancies not affected by homozygous α-thalassemia, and, meanwhile, save on the cost of unnecessary aneuploidy screening or karyotyping in pregnancies with an affected fetus of homozygous α(0)-thalassemia. [ABSTRACT FROM AUTHOR]

The authors ponder on the limitations of screening for rare diseases in pregnant women. Topics covered include the available screening options for aneuploidy during early pregnancy, test characteristics that are used to test performance, and the calculation of test sensitivity and specificity. The accuracy of non-invasive prenatal testing (NIPT) is also discussed.

Non-invasive prenatal testing on the basis of cell-free DNA of placental origin (NIPT) changed the landscape of prenatal care and is seen as superior to all other up to now implemented prenatal screening procedures - at least in the high-risk population. NIPT has spread almost worldwide commercially, but only in a few countries the costs of NIPT are covered by insurance companies. Such financial barriers in prenatal testing can lead to significant restrictions to the average range of opportunities of pregnant women and couples, which on an intersubjective level can be defined as unfair discrimination and on an individual level weakens reproductive autonomy. Given that enabling reproductive autonomy is the main ethical justification for offering prenatal (genetic) testing, these barriers are not only an issue of justice in health care, but are potentially counteracting the primary purpose of these testing procedures. [ABSTRACT FROM AUTHOR]

Abstract: The diffusion of antenatal screening programmes for Down syndrome has triggered much discussion about their powerful potential to enhance pregnant women''s autonomy and reproductive choices. Simultaneously, considerable debate has been engendered by concerns that such programmes may directly contribute to the emergence of new and complex ethical, legal and social dilemmas for women. Given such discussion and debate, an examination of women''s decision-making within the context of antenatal screening for Down syndrome is timely. This paper aims to undertake a meta-synthesis of qualitative studies examining the factors influencing pregnant women''s decisions to accept or decline antenatal screening for Down syndrome. The meta-synthesis aims to create more comprehensive understandings and to develop theory which might enable midwives and other healthcare professionals to better meet the needs of pregnant women as they make their screening decisions. Ten electronic health and social science databases were searched together with a hand-search of eleven journals for papers published in English between 1999 and 2008, using predefined search terms, inclusion and exclusion criteria, and a quality appraisal framework. Nine papers met the criteria for this meta-synthesis, providing an international perspective on pregnant women''s decision-making. Twelve themes were identified by consensus and combined into five core concepts. These core concepts were: destination unknown; to choose or not to choose; risk is rarely pure and never simple; treading on dreams, and betwixt and between. A conceptual framework is proposed which incorporates these themes and core concepts, and provides a new insight into pregnant women''s complex decision-making processes with regard to antenatal screening for Down syndrome. However, further research is necessary to determine whether or not the development of a model of decision-making may empower pregnant women in making choices about screening. [Copyright &y& Elsevier]

Abstract: One of the major roles of ultrasound in pregnancy is the detection of structural abnormalities. Ultrasound screening has become an accepted part of antenatal practice. However there is a wide variety in the practice between different centers. The majority of fetal anomalies are diagnosed by ultrasound in the second trimester. However, a number of abnormalities are amenable to diagnosis as early as 11–14 weeks gestation. National guidelines have been adopted in an attempt to standardize the practice in the UK. Prenatal detection rate is higher in countries with a national screening program. Prenatal ultrasound is a screening test and will have false negatives and positives. Structural abnormalities can occur as isolated events, as part of a genetic syndrome or as a result of a chromosomal abnormality. When an abnormality is detected prenatally, a multidisciplinary approach is necessary to optimize the outcome. It is important to provide appropriate information to the prospective parents but remain non-judgmental with their decision. [Copyright &y& Elsevier]

We sought to update the value of the 11- to 13 +6-week ultrasound evaluation for prenatal screening of trisomy 21. An English literature search was conducted for pertinent original research articles, review articles, and websites related to the 11- to 13 +6-week ultrasound evaluation. Reports from prenatal diagnostic units published since 1990 that included two- and three-dimensional ultrasound and Doppler hemodynamic evaluations for prenatal screening of trisomy 21 between weeks 10 and 13 +6of gestation were selected. Alternative screening methods were identified, and clinical information concerning each of them was extracted, integrated into tables, and then synthesized to provide meaningful clinical interpretations. Finally, mechanisms that could lead to improvements in the efficiency of these screening tests are discussed. Two-dimensional measurements of the fetal nuchal translucency play a key role in screening for trisomy 21. Evaluations of the nasal bone, ductus venosus, tricuspid valve function, frontomaxillary facial angle, hyperechogenic bowel, intracardiac echogenic focus, and renal pelvis fullness can become part of the 11- to 13 +6-week screening test if the imaging protocols are standardized. The role of 3-D ultrasound during the 11- to 13 +6-week ultrasound evaluations is under investigation. [ABSTRACT FROM AUTHOR]

Objectives To assess the value of ductus venosus blood flow (expressed as pulsatility index, DVPI) in antenatal Down's syndrome screening when used with the Combined and Integrated tests. Methods DVPI measurements between 10 and 13 weeks' gestation in 66 Down's syndrome and 7184 unaffected pregnancies were collected from women attending the Hospital Clinic, Barcelona, for antenatal care from 1999 to 2007 and combined with the Serum Urine and Ultrasound Screening Study (SURUSS) data to model screening performance, safety and costeffectiveness of the screening tests with and without DVPI. Results The median DVPI multiple of the normal median in Down's syndrome pregnancies was 1.55 (95% CI 1.36-1.73). As a single screening marker without using maternal age, DVPI has a 62% detection rate for a 5% false-positive rate. At a 90% detection rate (first trimester measurements at 11 weeks' gestation) the addition of DVPI reduced the false-positive rate of the Combined test from 8.5% to 4.6% and the Integrated test from 2.0% to 1.1%, with a corresponding reduction in fetal losses from diagnostic procedures. There was no material loss of cost-effectiveness. Conclusion Addition of DVPI measurements to the Combined and Integrated tests substantially improves the efficacy and safety of antenatal Down's syndrome screening. [ABSTRACT FROM AUTHOR]

This target article considers the ethical implications of providing prenatal diagnosis (PND) and antenatal screening services to detect fetal abnormalities in jurisdictions that prohibit abortion for these conditions. This unusual health policy context is common in the Latin American region. Congenital conditions are often untreated or under-treated in developing countries due to limited health resources, leading many women/couples to prefer termination of affected pregnancies. Three potential harms derive from the provision of PND in the absence of legal and safe abortion for these conditions: psychological distress, unjust distribution of burdens between socio-economic classes, and financial burdens for families and society. We present Iran as a comparative case study where recognition of these ethical issues has led to the liberalization of abortion laws for fetuses with thalassemia. We argue that physicians, geneticists and policymakers have an ethical and professional duty of care to advocate for change in order to ameliorate these harms. [ABSTRACT FROM AUTHOR]

Abstract: Despite the aim of nuchal translucency screening to enhance reproductive choices among prospective parents, research on the experience of those who choose to decline this screening has been fairly limited. The objective of this study is to gain an understanding of how parents who decline screening account for their decision in a setting where screening for Down''s syndrome in early pregnancy is the norm. The majority of research on prenatal screening choices has been conducted retrospectively; there has been very little research that has explored decision making on a prospective basis and that has included both parents. In order to study this question, a purposive sample of ten couples who had decided to decline screening was recruited from four health care centres in Iceland. Data were gathered in semi-structured interviews conducted with each participant twice during the pregnancy (at 7–12 weeks pregnant and at 12–24 weeks pregnant), for a total of 40 interviews. We find that the decision to decline screening is largely determined by what prospective parents bring with them to the pregnancy, i.e., their personal philosophy of Down''s syndrome and the high value they place on maintaining the complexity of life. The test is also considered unreliable by some of the participants. These findings have implications for those who are involved in formulating and providing antenatal screening policies and practices. [Copyright &y& Elsevier]

The article presents a study which observed an exceeding detection rate performance for Down syndrome by the triple-marker prenatal screening program of California. Using data from a statewide registry for chromosomal defects, the authors of the study evaluate the screening performance of the California Expanded AFP Program. It is indicated that a 77.7% detection rate for Down syndrome of the program was observed, which varied significantly by gestational dating method and maternal age.

The article presents a prospective study that combines maternal age, fetal nuchal translucency (NT) and maternal serum freeβ-human chorionic gonadotropin (β-hCG) , and pregnancy-associated plasma protein-A (PAPP-A) in screening for trisomy 21. It presents the characteristics of 19, 614 pregnancies with normal delivery and 122 cases of trisomy 21, which comprise the study population. It reveals that the capability of the combine method to detect 90% for trisomy 21.

The article discusses the case of a 37-year-old pregnant woman in relation to the importance of prenatal screening for aneuploidy. The disorder refers to a deviation from the normal number of 46 chromosomes in humans and is related to significant morbidity and mortality during infancy and childhood. It is recommended that screening tests to estimate a woman's age-related risk of having a child with trisomy 21 or 18 be done in the first or second trimester.

A national carrier screening program targeted at communities in which severe genetic diseases are present with a frequency higher than 1/1000 live births, has been in existence in Israel since 2002. Within the communities at risk, carrier screening is voluntary whereas genetic counseling and testing is provided free of charge. During the first 5 years of the program more than 13 000 tests were performed, and at the end of 2007 it was offered in 35 different localities/communities for a total of 36 diseases. Many of the couples identified to be at risk opted for prenatal diagnosis and in two cases an affected pregnancy was terminated. In some cases the couples declined prenatal diagnosis and two of those families gave birth to an affected child. Based on the experience learnt from this targeted screening program it appears that a knowledge-based, voluntary screening program operated within the community is an effective way to provide genetic services and test referrals. The community program directed toward couples in their reproductive period does not seem to have led to stigmatization at either the individual or the community level.European Journal of Human Genetics (2009) 17, 591–597; doi:10.1038/ejhg.2008.241; published online 24 December 2008 [ABSTRACT FROM AUTHOR]

Prenatal blood tests are routinely offered to pregnant women in the UK. Male partners are tested only where a combined positive male and female test could detect fetal abnormality such as sickle cell anaemia. Little is known about the gendered nature of screening and the impact it has on lay feelings of genetic responsibility. For example, do women take exclusive ‘maternal responsibility’ for the fetus? How is this responsibility challenged when men are also screened? Drawing on empirical research with pregnant women and their male partners in a northern city in the UK, this paper aims to explore the gendered nature of genetic responsibility in prenatal blood screening. The paper will argue that women and men feel a sense of genetic responsibility for the fetus throughout screening. However, while women's sense of responsibility is directly ‘embodied’ and is heightened by the detection of ‘faulty genes’, men's manifests itself indirectly through shared responsibility with their pregnant partners and directly through their own genetic connections to the fetus. The paper concludes that the gendered nature of genetic responsibility is complex and contradictory, producing a set of gender roles that both challenges and reinforces a traditional gender division of labour. [ABSTRACT FROM AUTHOR]

Research on fathers' roles in antenatal screening has grown in recent years. Such research has emphasized the increasing importance of men's roles as supporters of pregnant partners undergoing screening, and as potential fathers interested in the wellbeing of their baby. Despite this increasing attention to men's roles in screening, existing research has tended to concentrate on seeking the views of those whose partners are undergoing screening. The views of professionals involved in screening are seldom explored. Drawing on a small scale empirical study with midwives in a northern city in the UK this article seeks to develop an understanding of men's participation in screening from a professional perspective. The article will highlight a number of interesting issues on this subject from attendance at screening to issues of paternity. The article concludes by emphasizing the importance of midwives' contributions, making suggestions for further research in this area. [ABSTRACT FROM AUTHOR]

Abstract: Objective: To describe prevalence, prenatal diagnosis and epidemiology of congenital hydronephrosis (CH) in Europe. Material and method: Data from a large European database for surveillance of congenital malformations (EUROCAT). The 20 participating registries are all based on multiple sources of information and include information about livebirths, fetal deaths with gestational age ≥20 weeks and terminations of pregnancy after prenatal diagnosis of malformations. Included were all cases with CH and born 1995–2004. Results: There were 3648 cases with CH giving an overall prevalence of 11.5 cases per 10,000 births. The large majority of cases were livebirths (3506, 96% of total) and only 17 cases were fetal deaths and 120 were terminations of pregnancy. Almost all livebirths were alive 1 week after birth. Boys accounted for 72% of all cases. A high proportion of the cases (86%) had an isolated renal malformation. There were large regional differences in prevalence of CH ranging from 2 to 29 per 10,000 births. There was little regional variation in the prevalence of postnatally diagnosed cases while there were large regional differences in prevalence of prenatally diagnosed cases. Conclusion: Cases with CH are mainly livebirths, boys and survive the first week after birth. The large difference in prevalence seems to be related to the availability of prenatal screening in the region. The impact of over-diagnosis and potential over-treatment in regions with high prevalence or under-diagnosis with implications for renal function later in life in regions with low prevalence needs further investigation. [Copyright &y& Elsevier]

To evaluate the efficacy of non-invasive prenatal screening (NIPT) for detecting fetal sex chromosome abnormalities, a total of 639 women carrying sex chromosome abnormalities were selected from 222,107 pregnant women who participated in free NIPT from April 2018 to December 2020. The clinical data, prenatal diagnosis results, and follow-up pregnancy outcomes of participants were collected. The positive predictive value (PPV) was used to analyze the performance of NIPT. Around 235 cases were confirmed with sex chromosome abnormalities, including 229 cases with sex chromosome aneuploidy (45, X (n = 37), 47, XXX (n = 37), 47, XXY (n = 110), 47, XYY (n = 42)) and 6 cases with structural abnormalities. The total incidence rate was 0.11% (235/222,107). The PPV of NIPT was 45.37% (235/518). NIPT accuracy for detecting sex chromosome polysomes was higher than that for sex chromosome monomers. The termination of pregnancy rate for fetal diagnosis of 45, X, and 47, XXY was higher than that of 47, XXX, and 47, XYY. The detection rate of fetal sex chromosome abnormalities was higher in 2018–2020 than in 2010–2012 (χ2 = 69.708, P < 2.2 × 10−16), indicating that NIPT is greatly efficient to detect fetal sex chromosome abnormalities. [ABSTRACT FROM AUTHOR]

Aims: To determine the prevalence of seropositivity for toxoplasmosis in pregnant women, to assess the outcome and the prevalence of congenital toxoplasmosis, and to evaluate the usefulness of routine screening for Toxoplasma gondii antibodies in parturient women. Methods: Prospective cross-sectional study of consecutive mothers and their liveborn infants within the first 12 months of the implementation in a maternity ward of a routine consisting in screening for toxoplasmosis at delivery. Results: Serologic status for toxoplasmosis were assessed in 2,477 (98.5%) of 2,513 mothers of liveborn infants throughout the study period. Of the 2,477 mothers, 810 (32.7%; 95%CI 30.9-34.6%) were susceptible and 1,667 (67.3%; 95%CI 65.4-69.1%) were immune. Three newborn infants with congenital toxoplasmosis were identified because of the maternal serum tests at delivery, and all of them had active ocular lesions caused by toxoplasmic retinochoroiditis. The prevalence of congenital toxoplasmosis was 12/10,000 (CI 95%: 6/10,000-21/10,000). Conclusions: Maternal serologic screening at delivery was useful for the early detection of cases of congenital toxoplasmosis that would have otherwise gone undetected in the neonatal period, and allowed for earlier treatment of newborns with retinochoroiditis. The high prevalence of Toxoplasma gondii antibodies in pregnant women and of congenital toxoplasmosis justify a prenatal screening program in this population. [ABSTRACT FROM AUTHOR]

The article offers tips for selecting laboratory for Cell-free DNA (cfDNA) testing. Suggestions include looking for a laboratory that have publicly available validation data and significant existing experience; clear description of test methodology; and availability of laboratories screening for trisomy 21, trisomy 18 and trisomy 13. It also mentions two different methods of cfDNA testing including massively parallel shotgun sequencing (MPSS) and chromosome-selective sequence analysis. [ABSTRACT FROM AUTHOR]

Objective: To assess the usefulness of triple-marker screening for Down syndrome in Venezuela.Method: Maternal serum concentrations of alpha fetoprotein (AFP), beta human chorionic gonadotropin (beta-hCG), and unconjugated estriol (uE3) were measured weekly in 3895 women from the 15th to the 20th week of pregnancy. Population-specific likelihood ratios were determined and used to calculate the risk of fetal Down syndrome for each pregnancy.Results: The median multiple of the median values for AFP, beta-hCG, and uE3 concentrations were 0.69, 2.10, and 0.67 for the affected pregnancies. The likelihood ratio for a positive result was 1:19. The detection and false-positive rates were 69.23% and 5.8%.Conclusion: These findings were consistent with reported data and therefore confirmed triple-marker serum screening as effective and suitable for prenatal care in Venezuela. Latin American governments and Health Agencies should recommend offering this screening method to all pregnant women. [ABSTRACT FROM AUTHOR]

The article focuses on the expanded recommendation for prenatal and perinatal human immunodeficiency virus testing of the American College of Obstetricians and Gynecologists in the U.S. The organization recommends that the obstetrician-gynecologists should follow opt-out prenatal human immunodeficiency virus (HIV) screening where legally possible, repeat conventional or rapid HIV testing in the third trimester and rapid HIV testing should be used in labor for women with undocumented HIV status

Congenital heart diseases (CHD) are the most common congenital anomalies, and most cases occur in the low-risk population. The majority of babies with congenital heart disease are born to mothers with no identifiable high-risk factors and so will not be detected unless there is widespread screening of the low-risk population. Congenital heart disease is eight times more common than trisomy 21 and four times more common than neural tube defects, the two conditions for which universal screening programs are in place. But, most of the countries in Europe do not perform routine fetal cardiac screening. Staff performing routine obstetric ultrasound scans should learn a simple technique for examining the fetal heart and to use this in all patients. The aim of this review is to discuss the diagnostic efficacy of the first-trimester and second trimester fetal cardiac screening as a routine measure in an unselected 'low-risk' population. [ABSTRACT FROM AUTHOR]

We report two cases of compound heterozygote patients for the - -MED I and Hb Agrinio [α29(B10)Leu→Pro (α2)] anomalies in two unrelated Greek Cypriot families. The first patient had a serious form of Hb H disease and died at the age of 21 due to complications arising during an operation. The second patient showed a severe hematological picture and has been regularly transfused since an early age. This patient exhibits bone abnormalities as well as hepatosplenomegaly. The severity of these two incidences emphasizes the need for the inclusion of a screening test for the - -MED I/αAgrinioα genotype among those already offered during prenatal diagnosis. Two homozygotes, as well as a number of simple, compound, and double heterozygotes for Hb Agrinio have been identified in Cyprus and their hematological indices are presented. [ABSTRACT FROM AUTHOR]

Objective. Trefoil factors (TFF1-3) are 7-12 kDa peptides secreted by mucosal surfaces, with changing levels of expression reflected in serum concentrations. The genes for the peptides are located on chromosome 21, the chromosome duplicated in trisomy 21. We studied the levels of circulating TFFs in pregnant women carrying trisomy 21 foetuses and in women with normal pregnancies, throughout pregnancy and postpartum. Material and methods. Employing ELISA methods, serum collected at gestational weeks (GW) 18, 32, 39 and 8 weeks postpartum from women carrying normal foetuses (n = 141) was analysed for TFFs. In addition, serum collected at GW 6-14 (median = 10) from women carrying trisomy 21 foetuses (n = 48) or healthy foetuses (n = 46) was analysed. Results. Peaking at 39 GW, concentrations of TFF2 and TFF3 were 3.5 and 47 times higher, respectively, than postpartum. Postpartum levels were comparable to concentrations previously measured in non-pregnant women. TFF1 concentrations rose throughout pregnancy and postpartum, being 1.5 times higher postpartum compared to 18 GW. No differences in the levels of TFFs were observed between women carrying trisomy 21 and those with healthy foetuses. To our knowledge, circulating TFF3 has never been reported to reach the levels observed here. Also, the pattern of increase is unusual, as previous reports have shown parallel increases in TFF1 and TFF3 with no alterations in TFF2. Conclusions. Our results demonstrate that circulating TFFs are not candidate markers of trisomy 21 in first-trimester pregnancies, but raise intriguing questions concerning the origin of TFFs produced during pregnancy and their physiological function. [ABSTRACT FROM AUTHOR]

Developments in biomedicine have remodelled the time-honoured questions of how to define the normal and the connection between the normal and the norm. This article deals with the expansion of the idea of abnormality through a study of the practices involved in neonatal screening for cystic fibrosis in France. It is based on observations made at meetings between paediatricians and geneticists involved in the screening programme, and a seven-month study in a tertiary care centre for cystic fibrosis. On one hand, the study highlights the technical limitations of screening, which have the effect of expanding biological abnormality. On the other, it deals with the rationales and associated practices used by health care professionals for paediatric monitoring that are behind the expansion of clinical abnormality. Lastly, the consequences of those practices are analysed at the point where neonatal screening and prenatal diagnosis meet, showing how the biomedical norm, with respect to foetuses, is altered. The political and moral space in which this development has occurred is discussed. [Copyright &y& Elsevier]

Objectives Antenatal screening for Down's syndrome relies on the use of multiple markers in combination. Markers that are highly correlated can cause statistical instability. We used the maximum variance inflation factor (VIFmax) to determine whether a screening test using multiple markers was robust to imprecision in the estimation of the marker distribution parameters. Methods The VIFmax for a specified screening test was calculated from the correlations between markers in Down's syndrome pregnancies for six tests: integrated and serum integrated tests without repeat measurements, both tests with repeat measurements across trimesters analysed in the standard way, and both tests with repeat measurements analysed as cross-trimester (CT) marker ratios. The screening performance of each test using published parameter values, in terms of the false-negative rates for a 3% false-positive rate (FN3), were calculated for simulated populations with medians 0.2 standard deviations (SD) higher or lower than the published values (to reflect imprecision in parameter estimation) for pregnancy-associated plasma protein A and unconjugated oestriol in affected pregnancies. For each test, the VIFmax value was compared with the coefficient of variation of the FN3 (FN3 CV). An independent set of 27 Down's syndrome pregnancies was used to determine how many had meaningless low risks (,1 in 10,000) with each test. Results Tests with VIFmax values greater than 5 had FN3CV values over 50%, but those with VIFmax values less than 5 had FN3 CV values less than 21%. The numbers of Down's syndrome pregnancies with meaningless low risk estimates in the independent set were 18 (64%) in tests with VIFmax values ≥5 and none for those with values >5. Conclusion VIFmax values of 5 or more suggest instability. The tests using CT marker ratios were stable (VIFmax < 3), but the tests using repeat measurements in the standard manner were not (VIFmax > 5). [ABSTRACT FROM AUTHOR]

Policies and practices around antenatal screening services have long been the subject of debate in a sociological context. However, existing research has largely overlooked the way in which the policies and practices that underpin antenatal screening services are enacted through talk between pregnant women and their health professionals. This paper focuses on one such policy, that of informed choice. It uses data from 14 tape-recorded pre-screening consultations with community midwives, forming part of a newly introduced nuchal translucency screening programme, to examine how the issue of choice is topicalised and discussed. It concludes that, whilst there is clear evidence that midwives are at pains to explicitly invoke the issue of decision making, there are other more subtle factors in the interactional presentation of screening tests that serve to undermine whether and how a recognition of choice is received by pregnant women. [ABSTRACT FROM AUTHOR]