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Esophageal atresia (EA) is a rare congenital malformation of the upper aerodigestive tract, which can be diagnosed antenatally in 50-65% of cases. Postnatal management differs according to the type of EA. No studies have evaluated the correlation of antenatal ultrasound findings with the type of EA.The main objective is to study the association between antenatal ultrasound signs and the type of EA. The secondary objective is to study the association between postnatal morbidity and the type of EA.We conducted a single-center retrospective study between May 2010 and August 2019. Fetuses with suspected prenatal EA and postnatal diagnosis confirmation were included. Postnatal confirmation of EA was performed during surgery for live births and by fetopathological examination for termination of pregnancy. Prenatal signs and postnatal morbidity were compared according to the type of EA.We included 15 cases of postnatally confirmed EA, including 9 type 1EA, 5 type 3EA and 1 type 4EA (11 live births and 4 terminations of pregnancy). The gestational age at diagnosis was earlier in type 1EA: 22The antenatal ultrasound signs seem to be more pronounced in case of type 1EA. Type 1EA is associated with severe morbidity compared to Type 3EA. Improving prenatal diagnosis of EA and its type allows a more accurate prognostic evaluation.

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Resume Objectifs Reviser l’organisation et la methodologie des recommandations pour la pratique clinique (RPC) du College national des gynecologues et obstetriciens francais (CNGOF). Methodes Les differentes methodes d’organisation et de cotation de la preuve scientifique ont ete consultees apres recherche dans la base de donnees Medline. Resultats Le groupe RPC du CNGOF a decide d’adopter une organisation des RPC basee sur les 23 criteres AGREE II (pour Appraisal of Guidelines for REsearch and Evaluation) et de coter la preuve scientifique selon la methode GRADE (pour Grading of Recommendation Assessment, Development, and Evaluation). Conclusion En adoptant les criteres du consortium AGREE II et la cotation de la preuve selon la methode GRADE, le CNGOF augmentera la qualite de l’ensemble du processus, delivrera des messages plus cibles et facilement assimilables, pour faciliter mieux encore les prises de decisions des professionnels, au benefice espere de la sante des femmes et de leurs enfants.

To revise the organization and the methodology of the Practice Clinical Guidelines (PCG) of the French College of Gynecologists and Obstetricians (CNGOF).The different available methods of PCG organization and of scientific evidence grading have been consulted after searching in the Medline database.The PCG group of the CNGOF has decided to adopt the AGREE II (for Appraisal of Guidelines for REsearch and Evaluation) methology for PCG organization and the GRADE (for Grading of Recommendation Assessment, Development, and Evaluation) system for grading scientific evidence.By adopting the AGREE II consortium criteria and grading scientific evidence according to the GRADE system, the CNGOF will increase the quality of the overall process, will deliver more targeted and easy to assimilate recommendations, to facilitate professional decision making.

To determine the optimal management of singleton breech presentation.The PubMed database, the Cochrane Library and the recommendations from the French and foreign obstetrical societies or colleges have been consulted.In France, 5% of women have breech deliveries (Level of Evidence [LE3]). One third of them have a planned vaginal delivery (LE3) of whom 70% deliver vaginally (LE3). External cephalic version (ECV) is associated with a reduced rate of breech presentation at birth (LE2), and with a lower rate of cesarean section (LE3) without increases in severe maternal (LE3) and perinatal morbidity (LE3). It is therefore recommended to inform women with a breech presentation at term that ECV could be attempted from 36 weeks of gestation (Professional consensus). In case of breech presentation, planned vaginal compared with planned cesarean delivery might be associated with an increased risk of composite perinatal mortality or serious neonatal morbidity (LE2). No difference has been found between planned vaginal and planned cesarean delivery for neurodevelopmental outcomes at two years (LE2), cognitive and psychomotor outcomes between 5 and 8 years (LE3), and adult intellectual performances (LE4). Short and long term maternal complications appear similar in case of planned vaginal compared with planned cesarean delivery in the absence of subsequent pregnancies. A previous cesarean delivery results for subsequent pregnancies in higher risks of uterine rupture, placenta accreta spectrum and hysterectomy (LE2). It is recommended to offer women who wish a planned vaginal delivery a pelvimetry at term (Grade C) and to check the absence of hyperextension of the fetal head by ultrasonography (Professional consensus) to plan their mode of delivery. Complete breech presentation, previous cesarean, nulliparity, term prelabor rupture of membranes do not contraindicate planned vaginal delivery (Professionnal consensus). Term breech presentation is not a contraindication to labor induction when the criteria for acceptance of vaginal delivery are met (Grade C).In case of breech presentation at term, the risks of severe morbidity for the child and the mother are low after both planned vaginal and planned cesarean delivery. For the French College of Obstetricians and Gynecologists (CNGOF), planned vaginal delivery is a reasonable option in most cases (Professional consensus). The choice of the planned route of delivery should be shared by the woman and her caregiver, respecting the right to woman's autonomy.

To determine the management of patients with term prelabor rupture of membranes.Synthesis of the literature from the PubMed and Cochrane databases and the recommendations of French and foreign societies and colleges.Term prelabor rupture of membranes is considered a physiological process up to 12hours of rupture (Professional consensus). In case of expectant management and with a low rate of antibiotic prophylaxis, home care compared to hospitalization could be associated with an increase in neonatal infections (LE3), especially in case of group B streptococcus colonization (LE3). Home care is therefore not recommended (Grade C). In the absence of spontaneous labor within 12hours of rupture, antibiotic prophylaxis could reduce the risk of maternal intrauterine infection but not of neonatal infection (LE3). Its use after 12hours of rupture in term prelabor rupture of the membranes is therefore recommended (Grade C). When antibiotic prophylaxis is indicated, intravenous beta-lactams are recommended (Grade C). Induction of labor with oxytocin (LE1), prostaglandin E2 (LE1) or misoprostol (LE1), is associated with shorter rupture of membranes to delivery intervals when compared to expectant management. Compared with expectant management, immediate induction of labor is not associated with lower rates of neonatal infection (LE1), even among women with a positive streptococcus B vaginal swab (LE2). Thus, expectant management can be offered without increasing the risk of neonatal infection (Grade B). Induction of labor is not associated with an increase or decrease in the cesarean delivery rate (LE2), whatever parity (LE2) or Bishop score at admission (LE3). Induction can thus be proposed without increasing the risk of cesarean delivery (Grade B). No induction method (oxytocin, dinoprostone, misoprostol or Foley® catheter) has demonstrated superiority over another, whether to reduce rate of intrauterine or neonatal infection, rate of cesarean delivery or to shorten rupture of membranes to delivery intervals regardless of Bishop's score and parity.Term prelabor rupture of membranes is a frequent event. A 12-hour delay without onset of spontaneous labor was chosen to differentiate a physiological condition from a potentially unsafe situation justifying an antibiotic prophylaxis. Expectant management or induction of labor can both be proposed, even in case of positive screening for streptococcus B, depending on the patient's wishes and maternity units' organization (Professional consensus).

To determine management of women with preterm premature rupture of membranes (PPROM).Bibliographic search from the Medline and Cochrane Library databases and review of international clinical practice guidelines.In France, PPROM rate is 2 to 3% before 37 weeks of gestation (level of evidence [LE] 2) and less than 1% before 34 weeks of gestation (LE2). Prematurity and intra-uterine infection are the two major complications of PPROM (LE2). Compared to other causes of prematurity, PPROM is not associated with an increased risk of neonatal mortality and morbidity, except in case of intra-uterine infection, which is associated with an augmentation of early-onset neonatal sepsis (LE2) and of necrotizing enterocolitis (LE2). PPROM diagnosis is mainly clinical (professional consensus). In doubtful cases, detection of IGFBP-1 or PAMG-1 is recommended (professional consensus). Hospitalization of women with PPROM is recommended (professional consensus). There is no sufficient evidence to recommend or not recommend tocolysis (grade C). If a tocolysis should be prescribed, it should not last more than 48hours (grade C). Antenatal corticosteroids before 34 weeks of gestation (grade A) and magnesium sulfate before 32 weeks of gestation (grade A) are recommended. Antibiotic prophylaxis is recommended (grade A) because it is associated with a reduction of neonatal mortality and morbidity (LE1). Amoxicillin, 3rd generation cephalosporins, and erythromycin in monotherapy or the association erythromycin-amoxicillin can be used (professional consensus), for 7 days (grade C). However, in case of negative vaginal culture, early cessation of antibiotic prophylaxis might be acceptable (professional consensus). Co-amoxiclav, aminosides, glycopetides, first and second generation cephalosporins, clindamycin, and metronidazole are not recommended for antibiotic prophylaxis (professional consensus). Outpatient management of women with clinically stable PPROM after 48hours of hospitalization is a possible (professional consensus). During monitoring, it is recommended to identify the clinical and biological elements suggesting intra-uterine infection (professional consensus). However, it not possible to make recommendation regarding the frequency of this monitoring. In case of isolated elevated C-reactive protein, leukocytosis, or positive vaginal culture in an asymptomatic patient, it is not recommended to systematically prescribe antibiotics (professional consensus). In case of intra-uterine infection, it is recommended to immediately administer an antibiotic therapy associating beta-lactamine and aminoside (grade B), intravenously (grade B), and to deliver the baby (grade A). Cesarean delivery should be performed according to the usual obstetrical indications (professional consensus). Expectative management is recommended before 37 weeks of gestation in case of uncomplicated PPROM (grade A), even in case of positive vaginal culture for B Streptococcus, provided that an antibiotic prophylaxis has been prescribed (professional consensus). Oxytocin and prostaglandins are two possible options to induce labor in case of PPROM (professional consensus).Expectative management is recommended before 37 weeks of gestation in case of uncomplicated PPROM (grade A).

Resume Objectif Determiner les mesures permettant de diagnostiquer, prevenir et traiter l’infection herpetique genitale au cours de la grossesse et de l’accouchement ainsi que l’infection neonatale. Methodes Consultation de la base de donnees MedLine, de la Cochrane Library et des recommandations des societes savantes francaises et etrangeres. Resultats L’eruption herpetique genitale est le plus souvent due a l’herpes simplex virus 2 (HSV2) (NP2). Le risque de seroconversion HSV pendant la grossesse est de 1 a 5 % (NP2). Devant une lesion genitale typique d’un herpes chez une femme ayant un antecedent d’herpes genital connu, il s’agit d’une recurrence herpetique et une confirmation virologique n’est pas necessaire (Grade B). Chez une femme n’ayant pas d’antecedent d’herpes genital connu, il est recommande d’effectuer un prelevement par ecouvillonnage de la lesion et de privilegier la polymerase chain reaction (PCR) (accord professionnel) et des serologies specifiques de type (accord professionnel). En cas d’episode initial d’herpes genital pendant la grossesse, il est recommande d’initier un traitement antiviral par aciclovir (200 mg × 5 par jour) ou valaciclovir (1000 mg × 2 par jour) pendant 5 a 10 jours (grade C). En cas de recurrence herpetique en cours de grossesse, un traitement par aciclovir (200 mg × 5 par jour) ou valaciclovir (500 mg × 2 par jour) peut etre propose (grade C). Le risque d’herpes neonatal est estime entre 25 % et 44 % en cas d’episode initial (NP2) et de 1 % en cas de recurrence (NP3) lors de l’accouchement. Une prophylaxie antivirale doit etre proposee aux femmes ayant un episode initial ou une recurrence herpetique en cours de grossesse, a partir de 36 SA et jusqu’a l’accouchement (grade B). En cas d’antecedent d’herpes genital sans episode de recurrence au cours de la grossesse, il n’est pas recommande de proposer systematiquement un traitement prophylactique (accord professionnel). Il est recommande de realiser une cesarienne en cas de suspicion d’episode initial d’herpes genital au moment du travail (grade B), ou de rupture de la poche des eaux a terme (accord professionnel), ou en cas d’episode initial d’herpes genital survenu moins de 6 semaines avant l’accouchement (accord professionnel). En cas de recurrence herpetique en debut de travail, une cesarienne sera d’autant plus a considerer que les membranes sont intactes. En revanche, un accouchement par voie vaginale sera d’autant plus a considerer qu’il existe une rupture prolongee des membranes (accord professionnel). L’herpes neonatal est rare et principalement du a HSV-1 (NP 3). Dans la majorite des cas d’herpes neonatal, l’interrogatoire ne retrouve aucun antecedent maternel d’herpes (NP 3). En cas de suspicion d’herpes neonatal, des prelevements (sang et liquide cephalorachidien) avec recherche d’ADN viral par PCR doivent etre realises pour confirmer le diagnostic (accord professionnel) et un traitement par aciclovir intraveineux (grade A) a la posologie de 60 mg/kg/j reparti en 3 injections (grade C) doit etre debute sans attendre les resultats des prelevements (accord professionnel). La duree du traitement depend de la forme clinique (accord professionnel). Conclusion Il n’existe pas de preuve formelle qu’il soit possible de diminuer le risque d’herpes neonatal en cas d’herpes genital pendant la grossesse. Cependant, une prise en charge adaptee permet de diminuer la symptomatologie liee a l’herpes, le risque de recurrence a terme, ainsi que le taux de cesariennes realisees pour lesions herpetiques.

While the prevalence of gestational diabetes mellitus (GDM) was estimated between 5 and 10% in 2010, the application of new thresholds recommended by IADPSG and adopted in 2010 by CNGOF seems to significantly increase the number of patients affected by this pathology. A prospective single-center French study estimated in 2014 the prevalence of gestational diabetes at 14% with these criteria, making it one of the most frequent complications during pregnancy. However, to date, there is no published study using these criteria to show a benefit to the health of women and children. If a diagnosis of GDM or type 2 diabetes during pregnancy is definitively an important risk factor for maternal as well as newborn and child complications, it is probably not the case for moderate hyperglycemia discovered during pregnancy.

The literature confirms the interest of progesterone for prevention of preterm delivery in specific indications for patients carrying a singleton pregnancy. In contrast, randomized trials have shown no benefit using progesterone in the prevention of prematurity in twins and even an adverse effect.

To evaluate de performances of noninvasive prenatal testing using cell free circulating fetal DNA (cffDNA) for the detection of fetal trisomy 21, 18 and 13 in a French population.cffDNA analysis was performed by massive parallel sequencing during a multicenter, non interventional, prospective study and the results were compared with a standard fetal karyotype.Results were available for 886 patients who have been classified as high- or moderate-risk depending on the presence of fetal abnormalities on ultrasound examination. For the high-risk group (n=376), the sensitivity and specificity of the test were 100% and 99.9% for trisomy 21, 88% and 99.9% for trisomy 18 and 100% and 99.9% for trisomy 13. The rate of other pathogenic chromosomal abnormalities with a negative NIPT was 7.9%. In the low-risk group (n=510), the sensitivity was 100% and the specificity 99.8% for trisomy 21, and only 0.4% of pathogenic chromosomal abnormalities were revealed by fetal karyotyping but not detected by cffDNA analysis.Noninvasive prenatal testing using cffDNA for high risk patients without fetal anomalies at ultrasound could be recommended in France after counseling on the possible risk of undiagnosed anomalies.

To describe precisely prenatal ultrasound features in congenital cytomegalovirus (CMV) infection.We retrospectively evaluated the ultrasound descriptions of cases of congenital CMV infection between 2004 and 2013.In 74 congenital CMV infections, related ultrasound abnormalities were reported in 34 cases (45.9%). Abnormalities reported were either cerebral (11 cases), either extracerebral (6 cases), or associated (17 cases). A total of 22/34 cases presented extracerebral features of 11 different sorts of abnormalities, mainly intra-uterine growth retardation (11 cases) and hyperechogenic bowel (10 cases) and 26/34 cases presented cerebral features of 14 different sorts, mainly brain calcifications (12 cases) and occipital horn cavity (12 cases). MRI was performed in 25 cases and have found additional abnormalities in 8 cases. These abnormalities are not specific to CMV infection. However, a frequent finding attracted our attention: the anechogenic cavity located on the extremity of the occipital horn.A potentially specific sign, inexistent in other fetal pathologies, is an anechogenic cavity located on the extremity of the occipital and/or temporal horn, a germinal region which contains numerous proliferating and differentiating germinal cells. A better understanding of these signs could increase the sensitivity of ultrasound, and clarify the pathophysiology of congenital CMV infection.

To evaluate the performance of different antenatal tools for the monitoring of fetuses with isolated intrauterine growth restriction (IUGR). To define the prenatal management of IUGR and indications for delivery before and after 32 weeks of gestation.PubMed, Embase and the Cochrane databases were searched using the keywords "IUGR", "fetal growth restriction", "cardiotocography", "amniotic fluid", "ultrasound assessment", "biophysical profile", "Doppler ultrasonography", "randomized trial", "meta-analysis". These terms were also combined together.Fetal monitoring of isolated IUGR should be based on the combined use of fetal heart rate (FHR) and ultrasound Doppler. The use of computerized FHR, with short-term variability (STV) measurement allows longitudinal monitoring and provides objective values upon which to decide very premature delivery (LE3). The use of umbilical Doppler is associated with a decrease in perinatal morbidity, especially in IUGR (LE1). It should be the first-line mean for the monitoring of SGA and IUGR fetuses (LE1). The additional use of cerebral Doppler is associated with a better predictive value for a poor perinatal outcome than the umbilical Doppler alone (LE3). Therefore, cerebral Doppler should be used in fetuses with IUGR, whether the umbilical Doppler is normal or not. As morbidity and mortality is increased in IUGR with pathological ductus venosus, the use of this Doppler should be considered in the monitoring of IUGR at before 32 weeks (professional consensus). Routine hospitalization is not mandatory for the monitoring of fetuses with IUGR/SGA. However, tertiary referral is advisable in cases of severe IUGR at between 26 to 32 weeks (professional consensus). The decision for delivery cannot be standardized and should be based on the combined analysis of gestational age, fetal heart rate analysis and Doppler study (professional consensus).Monitoring of fetuses with IUGR and decision for delivery should be based on the combined analysis of gestational age, fetal heart rate analysis and Doppler study before 32 weeks, this should ideally be performed by the association of computerized FHR and arterial and venous Doppler.

Prenatal corticosteroids administration is one of the major advances in obstetrics and neonatology for the prevention of preterm-birth related complications. However, concerns have been raised about its safety regarding neonatal growth and children development. Therefore, some obstetricians have restricted the use of corticosteroids to precisely defined indications. It remains some uncertainty regarding the choice of antenatal corticosteroids, the interval between injections, the timing of effectiveness and the maximum number of courses per pregnancy that is acceptable without causing complications among children. Thus, we performed a current literature review in 2013 regarding short- and long-term efficacy and safety in order to give clear recommendations to practitioners.

Three types of brain arteriovenous vascular malformations can be found during the neonatal period, according to their anatomical location. Vein of Galen malformations are the most common. The others are pial arteriovenous malformations or dural arteriovenous malformations, which include dural sinus malformations. They can be asymptomatic, but most often they are associated with different symptoms, related to their angioarchitecture or their effect on the brain. High-flow arteriovenous malformations can thus be responsible for heart failure. Local or regional venous hyperpressure exposes the patient to subacute or chronic brain lesions, or to hydrovenous disorders such as hydrocephalus. Some types of venous reflux can expose patients to brain hemorrhage. The treatment chosen for these vascular malformations and their consequences is transarterial or transvenous embolization, depending on the angioarchitecture and type of lesion. The schedule for the treatment will be determined according to the malformation type and its local or general effects on the brain. The aim of this article is to present the recommendations of the French National Referral Center for neurovascular malformations in children, in order to help clinicians and radiologists treat these patients during pre- or neonatal period.

Single fetal death in a twin pregnancy occurs in 5% of all twin pregnancies. Following single-twin death the perinatal mortality and the morbidity for the surviving twin is increased mainly in monochorionic pregnancy. These may include co twin death and survival impairment in the surviving co-twin in about 12% and 18% of cases respectively in case of monochorionic pregnancy and 4% and 1% in case of dichorionic pregnancy. The odds of intrauterine death of the co-twin and neurological abnormality among survivors is six and four times higher in monochorionic compared with dichorionic pregnancies due to shared placental circulation. The risk of preterm delivery is about 50% occurring 3 or 4 weeks after the death. No specific exam should be done in case of intrauterine death in dichorionic pregnancy whereas ultrasound and MRI should be realised to detect specific cerebral anomalies within 3-4 weeks of the death of the co-twin. For all death in utero occurring in twin pregnancy, a psychological care must be offered.

Pandemic influenza A H1N1 2009 is a benign disease when infecting healthy adults, but it can lead to severe consequences in pregnant woman, for the fetus or its mother. The incidence of the disease is increasing strongly, and health authorities estimate that one third of the world population might be infected before the end of the winter. Diagnosis of infection with influenza virus H1N1 is suspected when a patient presents with the association of symptoms of the respiratory tract like sore throat, cough, or dyspnea, with general signs like fever, myalgias, or exhaustion. Diagnosis confirmation is obtained with nasopharyngeal swab and virus detection with molecular biology. This flu can lead to severe consequences for the pregnant woman and fetus. For this reason, it is advisable to treat pregnant women systematically by oseltamivir or zanamivir, and to treat preventively the pregnant woman in case of close contact with a suspected or confirmed infected person. Even if the management of influenza A H1N1 2009 infection during pregnancy relies on family physicians and gynecologists, every physician having in charge such cases should regularly update his knowledge regarding the evolution of the recommendations for the pandemic.

A male infant was born at 41 weeks' gestation to a 34-year-old primiparous woman after an uneventful pregnancy. Physical examination showed extreme paleness. Fetal hemoglobin was 7.6g/dl and Kleihauher exam revealed fetomaternal hemorrhage. Pathology revealed in situ intraplacental choriocarcinoma. Serum human chorionic gonadotrophin level was undetectable 1 month after the delivery both in woman and in newborn. We suggest that a pathological examination of the placenta should be performed in any case of fetomaternal hemorrhage in order to avoid misdiagnosis of intraplacental choriocarcinoma.

To report the rules and the activity of the institutional review board of the French college of obstetricians and gynecologists (Comité d'éthique de la recherche en obstétrique et gynécologie [CEROG]) created in 2008. The submission requirements are also described.Retrospective study.The Ethical Review Committee [institutional review board of the French college of obstetricians and gynecologists (CNGOF)] CEROG have examined 65 project studies in 2008. The median number of submitted studies was 5.5 per month (IQR: 3.75-6.25). The origins of the submission were as follows: tertiary care university hospitals (n=63, 97 %), Inserm (n=1), INRA (n=1). Researches were found to be in conformity with the French laws and regulations, to conform to generally accepted scientific principles and medical research ethical standards in 44 cases (68 %). In 13 cases (20 %), the study has been forwarded to the Persons Protection Committee (PPC) since it concerned biomedical research or "usual care research" (soin courant). In six cases (9 %), the investigators have not responded to IRB suggestions. In two cases (3 %), the information form has been judged unsatisfactory.The CEROG is the first national IRB in obstetrics and gynecology. This new committee clarifies IRB submission procedure in France concerning non-interventional studies in the field of obstetrics and gynecology.

The prenatal diagnosis of abdominal mass poses the problem of its origin. Renal tumors are rarer than neuroblastoma but they are most often congenital mesoblastic nephroma. The congenital mesoblastic nephroma has a good forecast in spite of a sonographic impressive aspect. MRI can help to locate tumor but cannot tell difference between the different kinds of renal tumor. Prenatal forecast is especially linked with hydramnios and hydrops fetalis. Histolological study of the tumor is important for the prognosis. Two morphological subtypes are currently distinguished: the classic type with a good forecast and the atypical or cellular type. Distant metastases have been related only to the cellular form but especially in infants aged more than 3 months and never in the newborns. The diagnosis of the tumor does not change the mode of delivery except in case of an important volume. Complications are searched during the first days of life: hypertension, hypercalcemia, vomiting, hyperreninemia. Radical nephrectomy is performed after the end of the first week. In case of a classic form, the healing is always obtained. In case of cellular form, distant metastases are searched. In any rate, the follow-up is recommended until the end of the growth.

Cervical cerclage is a common surgical technique that has been used for more than 50 years to prevent preterm deliveries and in the management of a threatened second trimester loss. However, it remains one of the most controversial interventions in obstetrics and this is probably due to difficulties in diagnosing cervical insufficiency, which is based on a history of recurrent second trimester loss or early preterm delivery following painless cervical dilatation in the absence of contractions or bleeding. This article reviews in 2008 the current literature regarding the efficacy of elective cerclage, ultrasound-indicated cerclage, emergency cerclage, and cervico-isthmic cerclage for singletons and multiple pregnancies.

We present a rare case of prenatal diagnosis of two de novo chromosome structural rearrangements including a translocation (1;3) associated with a 22q11.2 deletion. The amniocentesis was performed because the systematic ultrasound examination revealed: right aortic cross with double aortic arch, with normal size of aorta and pulmonary artery. Our report emphasises that 22q11.2 deletion must be looked for when a fetal cardiac conotruncal malformation is diagnosed, even in the presence of another chromosomal abnormality. In prenatal diagnosis, this can have implication for patient management and genetic counselling.

To assess amniocentesis practice of a network during one year.In a retrospective multicenter study of the south-west Francilian network, we have enrolled 2400 patients who underwent amniocentesis, from 1 January 2003 to 31 December 2003.The rate of amniocentesis was 9.5%. The most frequent indication was a positive maternal serum screening test result (44%). The rate of global fetal losses (spontaneous miscarriage and intrauterine death) was 1.4%. Once the fetuses with aneuploidy and lethal pathology excluded, the rate of global fetal losses potentially related to amniocentesis was 1.21%. The rate of premature rupture of the membranes was 1.12% and prematurity affected 6.5% of the living births.Our study has highlighted several practices of amniocentesis within the network. Overall, amniocentesis potentially induces 1.12% of fetal losses. Screening tests are currently used sequentially, which leads to an increase number of amniocentesis and to an increase number of losses of "a priori" healthy fetus. Only the use of a combined screening could lower the frequency of amniocentesis without decreasing the detection rate of chromosome abnormalities.

Nuchal translucency (NT) measurement in first trimester screening between 11 and 14 weeks' gestation has now been clearly identified as a marker for aneuploidies and in particular for trisomy 21. Even in the absence of aneuploidy increased fetal nuchal translucency has been shown to be a marker for fetal heart malformations and numerous other fetal defects and genetic syndromes when the measure isor=95th centile which is around 3,5 mm for each gestational age. Fetuses with NT thickness above the 99th centile and normal karyotype have a high risk of adverse prenatal outcome and this increase in risk is exponential as the nuchal translucency measurement increases. However, among children born alive with normal ultrasound at 22 weeks of gestation, there was no significant association between NT thickness and development at 2 years as assessed by clinical examination and ASQ scores, when with a control population. Counselling should emphasize that when the karyotype is normal and no fetal structural malformation was missed prenatally following resolution of nuchal thickening, the prognosis is not impaired at the age of 2.

Down syndrome screening has been based on second trimester maternal serum markers assay for many years. Another late strategy was based on the "genetic sonogram" performed in early second trimester in high-risk populations selected on maternal age or second trimester maternal serum markers. New strategies for Down syndrome screening have emerged over the last 10 years, with higher sensitivity and lower false-positive rates. First trimester ultrasound examination is a successful screening test; the sensitivity of nuchal translucency measurement is of 60 to 77% for a 5% false-positive rate. Combining nuchal translucency measurement with PAPP-A and free beta-hCG assay (first trimester combined screening) increases the sensitivity up to 82%. The most specific strategy is based on the integrated test, i.e., the integration of the quadruple test performed in second trimester (inhibine dimeric A, total beta-hCG, AFP, and uE3 assay) to the first trimester combined screening: for a 85% detection rate, the false-positive rate is estimated to 0.9%. However, it is ethical only with the patient agreement because it prevents access to the results of first trimester combined screening, and deprives the patient of an early diagnosis by CVS. Therefore, alternative strategies were proposed: step-wise sequential screening and contingent sequential screening. In the step-wise screening, karyotype is offered when the result of the combined test is beyond a specified threshold. If the combined test result is below this threshold, quadruple test is offered, and the final risk is calculated in the second trimester by integrating the results of the quadruple test with those of the combined test. Contingent screening also begins with the first trimester-combined test. According to its results, the patients are considered in one of the 3 following risk groups: high, intermediate, or low risk. An early karyotype is proposed to the high-risk group after combined testing. The low risk group is reassured and thus the quadruple test is not performed. The quadruple test is proposed to the intermediate risk group and final risk is calculated by the integration of the combined test result into the quadruple test result. The global detection rate of the step-wise or contingent sequential screening is estimated to 84% for a false-positive rate of 2%.

Caput succedaneum often occurs at birth, especially in vaginal delivery. It is a cranial subcutaneous serohematic extravasation, with a good prognosis, and spontaneous regression is the rule within a few days. In the literature, it has been mainly described in the neonatal period. We report a case of caput succedaneum detected in utero by ultrasound after preterm premature rupture of membranes at 28 weeks. The in utero MRI showed a high signal intensity area on T2 weighted images, probably related to this etiology. Clinical examination at birth confirmed the diagnosis of caput succedaneum, which resolved in 3 days. Antenatal cranio-facial masses is suggestive of several diagnoses: cephalhematoma mainly, encephalocele, hemangioma, and subdural hematoma.

A case of osteogenesis imperfecta type II diagnosed in the first trimester of pregnancy.Lethal osteogenesis imperfecta is a disorder characterized by collagen abnormalities resulting in dwarfism, bone fragility and deformity leading to death in utero or in the perinatal period. Molecular and biochemical studies demonstrate that OI type II results from mutations in either COL1 A1 or COL1 A2 which encode for the chains of type I procollagen. Early diagnosis by US examination in first trimester relies on shortening and bowing of long bones, multiple fractures and hypoechogenicity of the skeleton. When ultrasound examination suspects OI type II, the diagnosis can be accomplished in the first trimester by biochemical analysis if the collagen defect is characterized.OI type II results mainly from private mutations and parental mosaicism is an important cause of recurrence making genetic counselling difficult.

Fifteen randomized studies in Crowley's analysis compared a group of patients receiving, a single course of steroids versus placebo between 24 and 34 weeks of gestation. It clearly demonstrated the benefit of a single course of steroids in the prevention of the prematurity-related complications with a decrease in neonatal mortality, a decrease in the incidence of respiratory distress syndrome, a reduction in the incidence of intraventricular haemorrhage and a reduction in necrotizing enterocolitis (NP 1). Because only bethamethasone has proved its efficiency in the reduction of neonatal mortality (NP 2) and antenatal exposition to betamethasone is associated with a decrease in the risk of periventricular leukomalacia in children born prematurely (NP 3) it seems preferable to use betamethasone rather than dexamethasone. Antenatal administration of repeated courses compared with single course of steroids improves fetal lung function with a decrease of RDS notably if the children is born before 28 weeks of gestation (NP 2) but numerous animal studies reported adverse effects of repeated courses. Several studies in women having received of repeated courses steroids report a decrease in birth weight and head circumference at birth but with a 3 years follow up similar to that of children exposed to a single course (NP 3). In conclusion the benefit of a single course of steroids is indisputable for the prevention of the prematurity-related complications but there is today a strong concern about the benefit/risk ratio in relation to the prescription of repeated courses of steroids.

Among the different means currently available to assess fetal hypoxia and determine the optimal time for fetal extraction in case of intra-uterine growth retardation (IUGR), Doppler measurement of blood flow in the ductus venosus (DV) is one of the most promising. The DV is one of the three fetal circulation shunts observed in utero. Approximately 55% of the oxygenated blood flowing from the umbilical vein to the foramen ovale and the left cavities short circuits the hepatic circulation via the DV. This oxygenated blood is preferentially directed to the myocardium and the brain. Measurement errors (suprahepatic veins, umbilical veins) can lead to erroneous diagnosis of defective DV. Inversely, there is a normal physiological reverse flow in the suprahepatic veins and the inferior vena cava not present in the DV. In case of fetal hypoxia, the proportion of oxygenated blood increases due to increased flow from the umbilical vein into the DV, increasing the proportion of oxygenated blood delivered to the heart and brain instead of the liver. This corresponds to fetal adaptation to hypoxia and the spectrum of the DV thus normally includes a positive wave. When the fetus is unable to adapt to hypoxia, there is an alteration of the right heart function observable in the DV spectrum with diminished diastolic flow or even zero or reverse flow. Anomalous CV flow is a sign of major deterioration of the fetal status before development of severe anomalies. For many, the short-term variability implies immediate extraction of the fetus. Certain well trained teams combine DV flow with other information such as the biophysical examination of the fetus, the quality of the amniotic fluid, visual and automated growth retardation measurements, and other Doppler measurements for decision making. Doppler measurements of the DV, disclosing IUGR or made during surveillance of IUGR, are theoretically made only if other Doppler findings such as arterial redistribution are abnormal. Doppler assessment of DV flow is not a first intention procedure and only concerns a small high-risk fetal population. Experience and good knowledge of fetal anatomy and the Doppler technique are required (it is easy to confuse the physiological spectrum of the suprahepatic veins with a negative wave corresponding to pathological DV flow).

One of the major progress in fetal medicine in recent years is the increased sensitivity of sonographic screening for foetal malformations, due to technical improvement but also to a better training of professionals. Screening for chromosomal abnormalities is no longer based on maternal age alone. Second trimester maternal serum screening (MSS) is increasingly used: thus in 1997, 376,798 MSS tests were performed in France, yielding to the prenatal diagnosis of 391 cases of Down's syndrome. First trimester sonographic nuchal translucency measurement (NTM) is an effective screening method when performed under stringent conditions. Quality control however, is more difficult to implement on a large scale for NTM than for MSS. Performing screening tests sequentially carries a danger of generating an unnecessarily high number of amniocentesis, which may be obviated by a rational calculation of an individual's risk to carry an aneuploid baby. First trimester MSS is expected to become standard practice in the next years, probably in combination with NTM. Cytogenetics underwent substantial innovations recently, due to the ever-increasing use of molecular cytogenetics. FISH techniques allow: 1) precise analysis of unexpected structural chromosomal abnormalities diagnosed by routine amniocentesis, 2) rapid screening of the most common aneuploidies by amniocentesis when a fetal structural anomaly is detected by 3rd trimester ultrasound, 3) diagnosis of micro-deletions suspected by fetal ultrasound or post-mortem. Prenatal diagnosis by maternal blood sampling and fetal cells or DNA analysis is now part of routine clinical practice in selected cases, such as fetal sexing in families affected by an X linked disease. Thus one can select those pregnancies eligible to invasive prenatal diagnosis. Pre implantation diagnosis, which has not been legal in France until 1999 is now increasingly used as an alternative to first trimester diagnosis. As for fetal therapy, a major recent breakthrough is the prenatal management of twin to twin transfusion syndrome by either amnioreduction or laser coagulation of inter-twin vascular shunts. In addition, new pathophysiologic concepts involving the renin angiotestin system could lead to further therapeutic innovations. A European randomised trial is now being completed to establish the respective indications of drainage and Laser. All this underscores that fetal medicine is no longer solely a succession of dramatic technical breakthroughs, but is entered an era of large-scale diffusion that requires evidence based evaluation.

We performed a retrospective study to evaluate the results of a new approach to cervical cerclage using a prosthetic band.Twenty-four patients were recruited over an 8-year period between 1991 and 1999. All had a history of at least two late abortions and/or preterm delivery and a failed attempt with McDonald or Hervet cerclage. We used a cervical cerclage technique with prosthetic band inspired from the Shirodkar technique but which has been simplified and quite easy to reproduce. The technique consists in placing a prosthetic band around the internal os under the vaginal mucosa at the vesicovaginal reflection level. Outcome of pregnancy before and after inserting the prosthetic band was compared.Outcome of 28 pregnancies after cerclage were assessed (4 patients had two successive pregnancies with the same cerclage left in place). 82% of the children were liveborn after cerclage versus 21.7% before cerclage. 53.3% of the patients delivered at term after cerclage versus 2.8% before cerclage. We had 7.1% late miscarriages after cerclasge versus 65.2% before. There were no surgical complications. 22 of the 23 liveborn children were delivered by cesarean section. Conclusion. These results show that the cervical prosthesis is a solution of these patients with an obstetric history of cervical incompetence with failure of classical techniques.