Isolated non-compaction of the ventricular myocardium is characterized by numerous and prominent trabeculations and deep intertrabecular recesses. This rare disease is due to an arrest of myocardial morphogenesis. Most cases, when seen in children, are associated with obstructive malformations. Isolated non-compaction is even rarer in childhood, and affects predominantly the myocardium of the left ventricle. Morbidity and mortality resulting from cardiovascular complications is high. In most cases, transplantation is the final option. To our knowledge, this rare cardiac malformation has yet to be diagnosed in the fetus. We report here two sporadic cases, one male and one female, and 2 familial cases, both male, which were diagnosed prenatally and followed by fetal echocardiography. Our study indicates that isolated non-compaction is a primary disorder of early fetal development. Our cross-sectional echocardiographic examinations revealed a fetal cardiomyopathy, with prominent and numerous trabeculations and deep intertrabecular recesses of the myocardium at the apex of the ventricles. In contrast with postnatal experience, we found isolated non-compaction mostly in the right ventricle. Systolic dysfunction was found in all cases. The diagnosis was confirmed by histology in 3 fetuses dying with cardiac failure, and by postnatal cross-sectional echocardiography in the fetus who survived. Two male fetuses belonged to a family in which 3 individuals were subsequently found to be affected. We discuss the issues of prenatal diagnosis, natural history, and myocardial histology.

5p deletion syndrome commonly known as cri du chat is well described in affected neonates with catlike cry and hypotonia. Karyotyping will usually show a deletion of the short arm of one chromosome 5 with variable breakpoints. Only a few cases have been reported prenatally, and the fetal form of the syndrome has not been clearly individualised. We report a new case of 5p deletion syndrome diagnosed prenatally in association with Dandy-Walker syndrome and agenesis of the corpus callosum. Other brain anomalies have been reported previously, but this unusual association suggests the use of a specific probe in the investigation of these malformations.

CH is an independent entity from NT and its association with increased NT carries a poor prognosis.

Subtle abnormalities on ultrasound may suggest a chromosomal problem. Standard cytogenetics cannot always demonstrate a microdeletion. High-resolution banding and molecular analysis can help to confirm the diagnosis.

Objective To compare nasal bone assessment by ultrasound examination at 11-14 weeks' gestation and postmortem X-ray