[First trimester fetal cardiac scanning for fetuses at higher risk for congenital heart disease]. / Place de l'échocardiographie foetale au premier trimestre pour les situations à risque accru de cardiopathie congénitale.

OBJECTIVE: To describe the preliminary results of fetal cardiac scanning in the first trimester of pregnancy for fetuses at higher risk for congenital heart defect (CHD). PATIENTS AND METHODS: Echocardiographic examination was performed at 12 to 14+6 in 67 patients at higher risk for fetal CHD. The indications for referral were: increased nuchal translucency more or equal to 99(e) centile (56 cases), risk of recurrence for CHD (eight cases), embryonic toxic exposure (eight cases), maternal disease (four cases). RESULTS: Complete examination of the fetal heart was possible in 54/55 cases. Fetal cardiac examination was normal in 58 cases (87 %). Six cases of severe CHD were diagnosed: hypoplastic left heart syndrome, pulmonary atresia with intact septum, complex univentricular CHD leading to termination of pregnancy, conotroncal Fallot like abnormality, and transposition of great arteries. Post-mortem examination was performed in three cases and confirmed the cardiac anomalies. DISCUSSION AND CONCLUSION: Our preliminary results confirmed that fetal heart scanning is feasible at the end of the first trimester of pregnancy. Severe CHD are amenable to prenatal diagnosis in the first trimester in the population at higher risk for CHD.

[Ultrasonographic and pathological correlation in a fetal intracranial cyst: a case of "diencephalo-synapsis"]. / Corrélation écho-anatomique d'une image kystique cérébrale foetale: une observation de "diencéphalo-synapsis".

Brain imaging now provides exquisite images of the central nervous system (CNS) enabling identification of CNS malformations early during pregnancy. However, pathogenical evaluation, necessary for genetic counselling, requires a detailed neuropathological analysis. Brain imaging of a female fetus at 27 weeks gestation disclosed a paramedial cystic formation, considered to be a porencephalic lesion. Neuropathological correlation after pregnancy termination disclosed partial atresia of the third ventricle, responsible for lateral ventricle dilatation and corpus callosum lamination. Atresia of the third ventricle, that we suggest could be called "diencephalo-synapsis", is a rare CNS malformation due to an unknown cause. Further neuropathological studies and phenotype-genotype correlations are necessary for the delineation of the entity and the comprehension of its cause and pathogenesis.

[Materno-fetal platelet allo-immunization revealed by in utero intracerebral fetal hemorrhage: proposed management for the next pregnancy]. / Allo-immunisation plaquettaire materno-foetale decouverte devant une hémorragie intracérébrale foetale in utero: proposition de prise en charge pour la grossesse suivante.

Materno-fetal platelet allo-immunization causes fetal or neonatal thrombocytopenia and sometimes severe intracerebral bleeding. The HPA-1s antigen is most generally implicated. This accident can occur during the first pregnancy with a major risk of severe recurrence during the next pregnancy. These women require specific care in a specialized center although no consensus has been reached on management of second pregnancies. Proposed treatments include immunoglobulins and/or corticosteroids, fetal blood puncture and unique or iterative platelet transfusions.

[Prenatal diagnosis of a case of Fryns' syndrome]. / Un cas de diagnostic prénatal du syndrome de Fryns.

Fryns' syndrome was reported for the first time in 1979 in children who died neonatally of prematurity and respiratory distress. This lethal, autosomal recessive syndrome is characterized by a diaphragmatic defect, pulmonary hypoplasia, a "coarse" face and distal limb abnormalities. This report presents a prenatal ultrasonographic diagnosis at 20 weeks' gestation of a case of Fryns' syndrome and defines the frequency of each of its abnormalities from the 38 cases listed in the literature.