Directive clinique no 439 : Diagnostic et prise en charge du vasa prævia.

OBJECTIF: Résumer les données probantes actuelles et énoncer des recommandations pour le diagnostic et la classification du vasa prævia et pour la prise en charge des femmes ayant reçu ce diagnostic. POPULATION CIBLE: Femmes enceintes présentant un vasa prævia ou des vaisseaux ombilicaux péricervicaux. OPTIONS: En cas de diagnostic soupçonné ou confirmé de vasa prævia ou de vaisseaux ombilicaux péricervicaux, prendre en charge la patiente à l'hôpital ou à domicile, puis pratiquer une césarienne avant terme ou à terme ou entreprendre une épreuve de travail. RéSULTATS: Hospitalisation prolongée, accouchement prématuré, césarienne et morbidité et mortalité néonatales. BéNéFICES, RISQUES ET COûTS: Les femmes ayant un vasa prævia ou des vaisseaux ombilicaux péricervicaux présentent un risque accru d'issues défavorables maternelles, fœtales ou postnatales, à savoir un diagnostic potentiellement erroné, un besoin d'hospitalisation, une restriction inutile des activités, un accouchement précoce et une césarienne inutile. L'optimisation des protocoles de diagnostic et de prise en charge peut améliorer les issues maternelles, fœtales et postnatales. DONNéES PROBANTES: Des recherches ont été effectuées dans les bases de données Medline, PubMed, Embase et Cochrane Library, de leur création jusqu'à mars 2022, à partir de termes MeSH et de mots clés liés à la grossesse, au vasa prævia, aux vaisseaux prævia, à l'hémorragie ante partum, au col court, au travail prématuré et à la césarienne. Le présent document est un résumé des données probantes et non pas une revue méthodologique. MéTHODES DE VALIDATION: Les auteurs ont évalué la qualité des données probantes et la force des recommandations en utilisant le cadre méthodologique GRADE (Grading of Recommendations Assessment, Development and Evaluation). Voir l'annexe A en ligne (tableau A1 pour les définitions et tableau A2 pour l'interprétation des recommandations fortes et faibles). PROFESSIONNELS CONCERNéS: Fournisseurs de soins obstétricaux, y compris obstétriciens, médecins de famille, infirmières, sages-femmes, spécialistes en médecine fœto-maternelle et radiologistes. RéSUMé POUR TWITTER: En cas de cordon et de vaisseaux ombilicaux non protégés dans les membranes près du col (vasa prævia y compris), une caractérisation échographique et une prise en charge avisée s'imposent pour réduire les risques pour le bébé et la mère pendant la grossesse et l'accouchement. DÉCLARATIONS SOMMAIRES: RECOMMANDATIONS.

Directive clinique no 410 : Anomalies du tube neural : Prévention, dépistage, diagnostic et prise en charge de la grossesse.

OBJECTIF: La présente directive clinique révisée vise à fournir une mise à jour sur les aspects génétiques, la prévention, le dépistage, le diagnostic et la prise en charge des anomalies du tube neural. POPULATION CIBLE: Les femmes enceintes ou qui pourraient le devenir. Il convient d'offrir le dépistage des anomalies du tube neural à toutes les femmes enceintes. OPTIONS: Pour la prévention : un régime alimentaire riche en acide folique et des suppléments d'acide folique et de vitamine B12 selon une posologie d'après le niveau de risque. Pour le dépistage : l'échographie obstétricale du deuxième trimestre, le dépistage échographique du premier trimestre, le dosage de l'alphafœtoprotéine sérique maternelle et l'imagerie par résonance magnétique prénatale. Pour les tests génétiques : l'amniocentèse diagnostique avec analyse chromosomique sur micropuce et le dosage de l'alphafœtoprotéine et de l'acétylcholinestérase dans le liquide amniotique et le séquençage de l'exome fœtal. Pour la prise en charge de la grossesse : la réparation chirurgicale prénatale, la réparation chirurgicale postnatale et l'interruption de grossesse avec autopsie. Pour les grossesses subséquentes : les options de prévention et de dépistage et les conseils. RéSULTATS: La recherche et la mise en œuvre du traitement chirurgical fœtal en cas de diagnostic prénatal de myéloméningocèle ont ajouté une option thérapeutique fœtale importante aux options précédentes (réparation postnatale ou interruption de grossesse), mais cette nouvelle option comporte un risque accru de morbidité maternelle. La prévention, le dépistage, le diagnostic et le traitement des anomalies du tube neural se révèlent entraîner des améliorations importantes à la mère et au nourrisson en matière de santé et de qualité de vie. BéNéFICES, RISQUES ET COûTS: Le type et l'ampleur des bénéfices, risques et coûts attendus pour les patientes grâce à la mise en œuvre de la présente directive clinique par un établissement de soins de santé intègrent un canal maternel préconception et prénatal adéquat comprenant l'accès des patientes aux soins, les conseils, les analyses et examens, l'imagerie, le diagnostic et l'interprétation. Les bénéfices relatifs à l'autonomie de la patiente et au processus décisionnel sont énoncés dans la présente directive clinique. Les risques comprennent un diagnostic fœtal inattendu et les décisions de prise en charge subséquentes. Le fait que la patiente refuse les échographies habituelles et le retard du conseil ou d'accès aux soins en cas d'anomalie du tube neural comportent également des risques. L'analyse des coûts (personnels, familiaux, santé publique) ne fait pas partie de la portée de la présente directive clinique. DONNéES PROBANTES: Afin de mettre à jour et réviser la présente directive, une revue de la littérature ciblée et dirigée a été effectuée à l'aide des termes de recherche suivants : spina bifida, neural tube defect, myelomeningocele, prenatal diagnosis, fetal surgery, neural tube defect prevention, neural tube defect screening, neural tube defect diagnosis et neural tube defect management. Un processus d'examen par les pairs a été utilisé pour la validation et la clarté du contenu, avec des considérations appropriées d'ordre éthique. MéTHODES DE VALIDATION: Les auteurs ont évalué la qualité des données probantes et la force des recommandations en utilisant l'approche d'évaluation, de développement et d'évaluation (GRADE). Consulter l'annexe A en ligne (le tableau A1 pour les définitions et le tableau A2 pour les interprétations des recommandations fortes et faibles). PROFESSIONNELS CONCERNéS: Professionnels des soins de maternité qui offrent des soins préconception, prénataux, obstétricaux ou néonataux. La présente directive clinique convient également aux fins d'éducation des patientes. RECOMMANDATIONS (CLASSEMENT GRADE ENTRE PARENTHèSES).

Opinion de comité no 406 : Dépistage prénatal après FIV avec test génétique préimplantatoire des aneuploïdies.

OBJECTIFS: Examiner l'approche du dépistage génétique prénatal et du diagnostic des anomalies chromosomiques dans les grossesses conçues par fécondation in vitro à la suite d'un test génétique préimplantatoire des aneuploïdies. PROFESSIONNELS CONCERNéS: Omnipraticiens, médecins de famille, obstétriciens, sages-femmes, infirmières, spécialistes en médecine fœto-maternelle, spécialistes en fertilité, conseillers en génétique, généticiens et autres professionnels de la santé qui participent au dépistage prénatal. POPULATION CIBLE: Toute personne ou tout couple dont la grossesse est issue d'une fécondation in vitro et dont l'embryon a préalablement été soumis à un dépistage génétique préimplantatoire des aneuploïdies. DONNéES PROBANTES: Des recherches ont été effectuées dans les bases de données Medline, PubMed et Cochrane Library pour extraire la littérature publiée au plus tard en septembre 2018. DÉCLARATIONS SOMMAIRES.

No 375 - Directive clinique sur l'utilisation de l'échographie au premier trimestre.

OBJECTIF: Révision des indications cliniques de l'échographie du premier trimestre. RéSULTATS: L'échographie au premier trimestre offre des avantages cliniques démontrés. DONNéES PROBANTES: Les données probantes ont été révisées au moyen de recherche dans Medline et selon la bibliographie des articles pertinents. VALEURS: Le contenu et les recommandations ont été évalués par les auteurs principaux et le Comité d'imagerie diagnostique de la Société des obstétriciens et gynécologues du Canada. Le niveau d'évidence a été défini en fonction des critères du Groupe d'étude canadien sur les soins de santé préventifs. RECOMMANDATIONS.

[Characteristics and challenges of the antenatal diagnosis]. / Caractéristiques et enjeux du diagnostic anténatal.

The period of antenatal diagnostic testing is fraught with emotions for the parents. Screening ultrasound scans often constitute the indication of an antenatal diagnostic consultation in a multidisciplinary centre. There then follows a period of diagnosis, prognosis and decisions. Parents must be given specific support throughout this time.

[Trisomy 21, the ethics between the right to life and a possible termination of pregnancy for medical reasons]. / Trisomie 21, quelle éthique entre le droit à la vie et une possible interruption médicale de grossesse ?

The antenatal diagnosis tools now available feed the fantasy of the 'perfect baby'. In this context and in parallel to a whole range of other foetal pathologies, trisomy 21 represents an emblematic situation which acts as a reminder that it is ethically essential to keep open the question of terminating or continuing with a pregnancy. Multidisciplinary team work remains the best safeguard against possible abuses.

[Neu-Laxova syndrome: Three case reports and a review of the literature]. / Syndrome de Neu-Laxova : rapport de trois cas et revue de la littérature.

INTRODUCTION: The Neu-Laxova syndrome (NLS) is a rare autosomal recessive and early lethal disorder. It is characterized by severe intra-uterine growth retardation, abnormal facial features, ichthyotic skin lesions and severe central nervous system malformations, especially microlissencephaly. Others characteristic features associated with fetal hypokinesia sequence, including arthrogryposis, subcutaneous edema and pulmonary hypoplasia, are frequently reported in NLS. PATIENTS AND METHODS: The clinicopathological characteristics of NLS are described in three cases with striking prenatal diagnostic findings and detailed post-mortem examinations. A review of the literature is undertaken with a focus on molecular basis. RESULTS: We present three new patients with NLS: one stillbirth male and two female newborns, delivered at 29, 35 and 40 weeks of gestational age, respectively. Characteristic ultrasound findings included hydramnios, severe intra-uterine growth restriction, craniofacial and cental nervous system anomalies. The cytogenetic study, performed in one case, was normal. The post-mortem examination revealed characteristic abnormalities in all three cases, that allowed to make a prompt diagnosis of the NLS. Data from these patients suggest that the NLS represents a heterogeneous phenotype. This feature has been highlighted in the literature. CONCLUSION: The SNL is a lethal developmental disorder characterized by phenotypic heterogeneity with striking neurological defects. It is underpinned by genetic heterogeneity. It can be caused by mutations in all three genes involved in de novo L-serine biosynthesis: PHGDH, PSAT1 and PSPH. Hence, the NLS constitutes the most severe end of already known human disease, i.e. serine-deficiency disorder.

Prenatal diagnosis of cystic fibrosis: 10-years experience.

PURPOSE: We present in this study our 10years experience in prenatal diagnosis of cystic fibrosis performed in the Tunisian population. PATIENTS AND METHODS: Based on family history, 40 Tunisian couples were selected for prenatal diagnosis. Fetal DNA was isolated from amniotic fluid collected by transabdominal amniocentesis or from chronic villi by transcervical chorionic villus sampling. The genetic analysis for cystic fibrosis mutations was performed by denaturant gradient gel electrophoresis and denaturing high-pressure liquid phase chromatography. We performed microsatellites analysis by capillary electrophoresis in order to verify the absence of maternal cell contamination. RESULTS: Thirteen fetuses were affected, 21 were heterozygous carriers and 15 were healthy with two normal alleles of CFTR gene. Ten couples opted for therapeutic abortion. The microsatellites genotyping showed the absence of contamination of the fetal DNA by maternal DNA in 93.75%. CONCLUSION: Our diagnostic strategy provides rapid and reliable prenatal diagnosis at risk families of cystic fibrosis.

PRE- AND POSTNATAL MODIFICATIONS IN PARENTAL MENTAL REPRESENTATIONS IN THREE CASES OF FETAL GASTROSCHISIS DIAGNOSED DURING PREGNANCY.

The aim of this study was to identify possible effects of gastroschisis on parents' intrapsychic dynamics by applying an observational clinical approach. More specifically, we intend to (a) evaluate the representational style of parents informed about the diagnosis of fetal gastroschisis during pregnancy using the Interview of Maternal Representations During Pregnancy and the Interview of Paternal Representations During Pregnancy (M. Ammaniti, C. Candelori, M. Pola, & R. Tambelli, ) and (b) observe whether the baby's birth influences the parents' representational styles through the application of the same tools (the Interview of Maternal Representations After the Birth, M. Ammaniti & R. Tambelli, , and the Interview of Paternal Representations After the Birth, M. Ammaniti & R. Tambelli, ), adapted to the postnatal period. During the prenatal period, all parents showed a restricted/disinvested style. Three parents-one mother and two fathers-changed their styles from restricted/disinvested to integrated between pregnancy and Month 6 after the birth of their child. Clinical data from the interviews and observations are discussed in an attempt at better defining intrapsychic dynamics of parents after a diagnosis of gastroschisis.

[Antenatal care for fetuses with congenital diaphragmatic hernia]. / Prise en charge anténatale des fœtus porteurs d'une hernie de coupole diaphragmatique.

Congenital diaphragmatic hernia (CDH) can be diagnosed prenatally and its severity assessed by fetal imaging. The prognosis of a fetus with CDH is based on whether or not the hernia is isolated, the measurement of lung volume on ultrasound and MRI, and the position of the liver. The birth of a child with CDH should take place in a center adapted to the care of such children, and in accordance with the recommendations defined by the French National Diagnosis and Care Protocol. It has recently been demonstrated that for moderate and severe forms of CDH, tracheal occlusion using a balloon placed in utero by fetoscopy (FETO) increases survival until discharge from the neonatal unit, but at the cost of an increased risk of prematurity. At the same time, advances in neonatal resuscitation and the standardization of follow-up of these children within the framework of the "Centre de référence maladies rares: hernie de coupole diaphragmatique" have improved the prognosis of these children and young adults.

Prenatal ultrasound diagnosis of a 48,XXYY syndrome.

The 48,XXYY syndrome is a rare uncommon gonosome aneuploidy and its incidence is estimated to be 1:18,000-1:40,000. The phenotype associated with this syndrome, classically described as Klinefelter variant, is extremely variable but developmental abnormalities are always present. Ultrasound signs during pregnancy are inconsistent, and only three prenatal cases have been described in the literature. Here, we report a case of 48,XXYY syndrome identified in prenatal period because of the presence of polyhydramnios and bilateral clubfeet on second trimester ultrasound. This observation shows the importance of chromosomal prenatal diagnosis in cases with bilateral clubfeet on morphologic ultrasound. This diagnosis is essential for further characterization of the prenatal phenotype and to improving genetic counselling.

[Towards a generalization of non-invasive prenatal diagnosis of single-gene disorders? Assesment and outlook]. / Vers une généralisation du diagnostic prénatal non-invasif des maladies monogéniques ? État des lieux et perspectives.

OBJECTIVES: The screening of fetal aneuploidies and non-invasive prenatal diagnosis of monogenic diseases (NIPD-MD) both rely on the study of free fetal DNA in maternal circulation, but their respective rise was unequal. Development of NIPD-MD has taken longer as it represents a less attractive commercial dynamic for industry, but also because it usually involves the development of tailored tests specific to each pathogenic variant. METHODS: We have carried out a review of the literature on the various indications and technologies involved in the use of NIPD-MM. We present its current implementation and its development in France. RESULTS: To date, NIPD-MD has been routinely offered in France for several years by the laboratories of the French NIPD-MD network but remains mostly limited to the exclusion of paternal or de novo variants, the exclusion DPNI-MD. Indeed, it is still difficult to study the transmission of maternal variants from circulating free DNA analysis, due to its biological complexity: coexistence and predominance of similar DNA sequences of maternal origin. Different strategies, either direct or indirect, are being evaluated to establish fetal status regardless of the parental origin of the disease or its transmission mode. The emergence of commercial screening solutions for monogenic diseases complements the arsenal of prenatal exploration tools for these diseases. CONCLUSION: The multitude of existing technologies and protocols may complicate the information provided during antenatal consultations, but mastery of know-how and knowledge of ethical issues of NIPD-MD will ensure optimal service and better management of pregnancies at risk of transmitting monogenic disease.

Outcomes following prenatal diagnosis of isolated persistent left superior vena cava.

BACKGROUND: Prenatal diagnosis of persistent left superior vena cava is increasing, but little is known about outcomes of infants with prenatally diagnosed isolated persistent left superior vena cava. OBJECTIVE: To assess the outcomes of infants with isolated persistent left superior vena cava diagnosed prenatally compared with infants with associated malformations. METHODS: All cases of persistent left superior vena cava confirmed by specialized fetal echocardiography in pregnant women were included from a single-centre prospective registry. Unfavourable outcome was defined as termination of pregnancy, in utero death, postnatal death or severe genetic syndrome missed prenatally. RESULTS: A total of 256 infants were included: 113 cases (44.1%) with isolated persistent left superior vena cava and 143 cases (55.9%) with associated malformations; respectively, 111 (98.2%) and 101 (70.6%) had a live birth. The median postnatal clinical follow-up was 3.6 years. Five-year postnatal survival with good outcome was estimated at: 100% (95% confidence interval 90.7% to 100%) in infants with isolated persistent left superior vena cava; 91.0% (74.0% to 98.1%) in infants with associated cardiac anomalies; 87.5% (51.8% to 97.3%) in infants with associated extracardiac anomalies; 81.0% (52.6 to 94.6%) in infants with both cardiac and extracardiac anomalies; and 78.9% (36.7% to 95.9%) in infants with non-structural anomalies. All genetic findings and syndromes were detected in fetuses or infants with non-isolated persistent left superior vena cava. CONCLUSION: Infants with isolated persistent left superior vena cava have good short-term outcomes postnatally, but persistent left superior vena cava is frequently associated with other malformations that have an effect on outcomes, which should be thoroughly searched for prenatally.

[Prenatal ultrasound prognostic of myelomeningocele at the era of fetal surgery]. / Évaluation pronostique prénatale échographique de la myéloméningocèle à l'ère de la chirurgie fœtale.

Myelomeningocele (MMC) is a severe congenital condition responsible for motor and sensory impairments of the lower limbs, incontinence and cognitive impairment. Its screening, sometimes as early as the first trimester, is one of the major goals of modern prenatal care, supported by the emergence of prenatal surgery that results in a significant improvement in motor function, ambulation and ventriculoperitoneal shunt rate in patients undergoing in-utero surgery. From screening to pre- and post-operative prognostic evaluation, prenatal ultrasound is now an essential tool in the antenatal management of this condition. Using the multi planar and three-dimensional modes, it can be used to assess the vertebral level of MMC, which remains the key antenatal prognostic marker for motor function and ambulation, incontinence and the need for a ventriculo-peritoneal shunt. A careful and systematic ultrasound examination also makes it possible to assess the severity and progression of ventriculomegaly, to search for associated cerebral, spinal cord or vertebral anomalies, or to rule out exclusion criteria for in-utero surgery such as severe kyphosis or serious cortical anomalies. New tools from post-natal evaluation, such as the "metameric" ultrasound assessment of lower limb mobility, appear to be promising either for the initial examination or after in-utero surgery. Ultrasonography, associated with fetal MRI, cytogenetic and next generation sequencing, now allows a highly customized prognostic evaluation of these fetuses affected by MMC and provides the parents with the best possible information on the expected benefits and limitations of fetal surgery.

[Prenatal path of care following the diagnosis of a malformation for which a novel prenatal therapy is available]. / Parcours prénatal devant une malformation pour laquelle un traitement in utero émergent est disponible.

OBJECTIVES: Fetal therapy is part of the available care offer for several severe malformations. The place of these emergent prenatal interventions in the prenatal path of care is poorly known. The objective of this study is to describe the decision-making process of patients facing the option of an emergent in utero intervention. METHODS: We have conducted a retrospective monocentric descriptive study in the department of maternal-fetal medicine of Necker Hospital. We collected data regarding eligibility or not for fetal surgery and the pregnancy outcomes of patients referred for myelomeningocele, diaphragmatic hernia, aortic stenosis and low obstructive uropathies. RESULTS: All indications combined, 70% of patients opted for fetal surgery. This rate was lower in the case of myelomeningocele with 21% consent, than in the other pathologies: 69% for diaphragmatic hernias, 90% for aortic stenoses and 76% for uropathy. When fetal intervention was declined, the vast majority of patients opted for termination of pregnancy: 86%. In 14% of the considering fetal surgery, the patient was referred too far. CONCLUSION: The acceptance rate for fetal surgeries depends on condition. It offers an additional option and is an alternative for couples for which termination of pregnancy (TOP) is not an option. Timely referral to an expert center allows to discuss the place of a fetal intervention and not to deprive couples of this possibility.

[Postnatal outcome from polyhydramnios without sonographic abnormalities]. / Issue postnatale en cas d'hydramnios sans anomalies morphologiques à l'échographie anténatale.

OBJECTIVES: To assess adverse outcome of polyhydramnios without morphological abnormalities and to determine the factors associated with an adverse outcome. METHODS: This is a retrospective observational cohort study conducted in a French tertiary care unit between 2008 and 2018 including all women with singleton pregnancy complicated by polyhydramnios. Presence of morphological abnormality was an exclusion criteria. The primary outcome was the rate of adverse outcome, defined by a composite criterion including death or postnatal discovery of malformation or chronic pathology. Maternal, obstetrical, paediatric and polyhydramnios characteristics were collected. RESULTS: Ninety-one women with polyhydramnios were included. The rate of adverse outcome was 24.2% (22/91). This rate was 20,3% in case of idiopathic polyhydramnios and 33,3% in case of maternal diabetes associated. The postnatal mortality rate was 5.5%. The rate of malformations not diagnosed in antenatal was 11%. Obesity (50% vs. 18,8%; P=0,004), early diagnosis (72,7% before 32 WG vs. 44,9%; P=0,02), and severity of polyhydramnios (22,7% vs. 4,3% in severe polyhydramnios; P=0,01) were associated significantly with an adverse outcome. In these cases, the incidence of preterm delivery was higher. CONCLUSION: Polyhydramnios must have second-line ultrasound, including isolated maternal diabetes. A systematic genetic assessment can be discussed.

[Antenatal ultrasound prediction of esophageal atresia type]. / Prédiction échographique anténatale du type d'atrésie de l'œsophage.

BACKGROUND: 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. OBJECTIVE: 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. METHOD: 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. RESULTS: 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: 22+0 [6-21,21-24] versus 30+0 [28+0-32+0] (P=0.03). Compared to type 3EA, type 1EA had a higher incidence of non-visible stomach bubble (89% versus 40%, P=0.09) and upper esophageal cul-de-sac dilatation (56% versus 0%, P=0.09). Neonatal morbidity in type 1EA was more severe with a longer hospital stay in neonatal intensive care. CONCLUSION: The 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.

[Early diagnosis of omphalocele: Prognostic value of the herniated viscera for associated anomalies]. / Omphalocèle au premier trimestre : valeur pronostique du contenu extériorisé pour le risque d'anomalie associée.

OBJECTIVES: Prognosis of infants with omphalocele depends on many factors, including associated anomalies. "Small" omphaloceles are believed to have more often WB syndrome, but so far no prenatal criterion has been demonstrated to predict associated anomalies. The aim of this study was to assess the outcomes of omphaloceles with prenatal diagnosis, and to seek for any correlation between the herniated viscera in the first trimester and the risk of associated anomalies. METHODS: We conducted a retrospective study at the Necker Enfants Malades Hospital between 2008 and 2018. Pregnancy outcomes and post natal data were collected and compared to the omphalocele content in the first trimester. RESULTS: One hundred and ninety-one women with antenatal diagnosis of omphalocele were included. Twenty-eight percent were isolated at birth, 32% had a polymalformative syndrome with chromosomal anomaly, 13% had a polymalformative syndrome without genetic anomaly, 9% had a Wiedemann-Beckwith syndrome, 7% had an association with cardiopathy, 6% had a limb body wall complex, 3% had OEIS complex and one case had a Cantrell pentalogy. The presence of the liver in the omphalocele during the first trimester was a predictive factor of heart disease (85.7% vs 48.6% P=0.01). The presence of bowel in the omphalocele during the first trimester was a predictor of chromosomal abnormalities (69.6% vs 37.2% P<0.001). Omphalocele content in the first trimester was not predictive of Wiedemann-Beckwith syndrome. CONCLUSION: Ultrasound analysis in the first trimester of omphalocele content is a valuable clue for prenatal counseling and diagnosis of associated abnormalities.

[Antenatal diagnosis and shared medical decision-making]. / Diagnostic anténatal et décision médicale partagée.

The antenatal diagnosis can sometimes result in a decision to terminate the pregnancy. It is a shared decision taken by the medical body and the couple with regard to their future child, legally recognised as a foetus throughout the pregnancy. Terminations for foetal abnormalities can only be decided on at the end of a care pathway along which the pregnant woman, the couple and caregivers must draw up a 'dignified and acceptable' future project for the unborn infant.