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Objective: To describe the prenatal diagnosis and outcome of fetal cardiomyopathy (CM)., Methods: The charts, photographs and videotapes of all fetuses with CM, who were assessed during pregnancy at two referral centers, were reviewed., Results: The diagnosis of CM was established in 12 fetuses. All had structurally normal hearts, and all cases were diagnosed after 23 weeks of gestation, following normal early fetal echocardiogram. Three clusters of fetal CM appeared: Familial--two sib fetuses of a mother, who is a second generation of CM. Both had dilated CM and pathological findings were consistent with the diagnosis of endocardial fibroelastosis. Secondary--CM that was induced by another factor. Idiopathic--six cases of CM without an underlying specific etiology. Three women elected to terminate their pregnancy. Among the nine who delivered, four had a favorable outcome with normal cardiac function at the age of 1 month, in which three belonged to the secondary category, and five cases were complicated by fetal/infant death., Conclusions: CM may develop during fetal life and might be diagnosed by prenatal echocardiography. Normal cardiac findings in a midtrimester fetus do not exclude subsequent development of CM. Detailed prenatal sonographic examination may aid in determining the neonatal outcome., (Copyright 2007 John Wiley & Sons, Ltd.)

Objective: To construct a growth chart of the mandible throughout gestation., Methods: A prospective cross-sectional study of normal singleton pregnancies was conducted. Measurements of the fetal mandibular transverse and antero-posterior diameters were performed with high-resolution transvaginal and transabdominal ultrasonography in 490 pregnant women with singleton low-risk pregnancies between 11 and 31 weeks' gestation., Results: The mandibular transverse and antero-posterior diameters were recorded by week of gestation and the ratio was calculated: mandibular ratio (MR) = 1.7759 - 0.01047 x gestational week. There was a negative linear correlation (-1.047%) for each incoming week of gestation. Normal values (+/-1SD and 2SD) were established., Conclusion: The present data provides a normal range of fetal mandibular diameters during normal pregnancies and introduces a new parameter, the mandibular ratio, for the intrauterine assessment of the fetal mandibular development., (Copyright 2006 John Wiley & Sons, Ltd.)

We describe our experience with prenatal diagnosis of sex differentiation disorders, with focus on the role of ultrasound scans for coherent assessment of prenatal diagnosis. Over a 5-yr period all cases suspected of sexual ambiguity based on abnormal ultrasonographic scans (US) or US/genotype US discrepancy were evaluated prenatally by three modalities: 1) repeated fetal US; 2) genetic studies, primarily karyotype and fluorescence in situ hybridization analysis of sex-determining region on the Y gene (SRY); and 3) hormonal assays of amniotic fluid. Of approximately 10,000 gestations, 16 fetuses underwent prenatal evaluation. Twelve were referred because of an abnormal US and 4 because of genotype-phenotype discrepancy. Five fetuses were diagnosed with female pseudohermaphroditism (21-hydroxylase deficiency in 3 and urorectal septum malformation sequence in 2). Four fetuses were diagnosed with male pseudohermaphroditism (1 with steroid sulfatase deficiency, 1 with presumed camptomelic dysplasia, and 2 undetermined). Five cases had chromosomal abnormalities, and 2 had 46,XX+SRY sex reversal. In all genetic females the uterus was observed on US. In 11 cases initial US scan was performed at 13-15 wk; in 7 of 11, although the initial scan was normal, a repeated scan later in gestation revealed an abnormality. Repeated US scans performed at 13-15 and 22-24 wk gestation are a helpful tool in prenatal diagnosis of sex differentiation disorders. Our data suggest that both size and structure anomalies of the reproductive structures may evolve throughout pregnancy, and that they represent a developmental biological process rather than a single nonprogressive pathological event. US scan after approximately 19 wk enables detection of the uterus and provides pivotal information in cases of ambiguity. If the uterus appears normal, the most likely diagnosis is a virilized karyotypic female. Prenatal diagnosis allows for early parental counseling and anticipation of medical management postnatally.