Hydrops fetalis due to agenesis of the ductus venosus: new hepatic histological features.

We describe the clinical course and autopsy findings of a male infant with hydrops fetalis due to agenesis of the ductus venosus. Fetal echocardiography at 27 weeks in gestation demonstrated hydrops fetalis due to unknown causes. The baby was born at 28 weeks in gestation by emergency caesarean section because of preeclampsia and progressive hydrop fetalis but died immediately at birth. The umbilical vein catheter ran an unusual course: left renal vein and inferior vena cava were opacified after postmortem injection of radiopaque dye into the umbilical vein. The autopsy demonstrated agenesis of the ductus venosus without extrahepatic umbilical venous drainage. The type without extrahepatic venous drainage is rare but shows a favorable outcome in general. However, our findings illustrate that in addition to sinusoidal dilatation, some cases may induce significant medial hypertrophy of portal veins, leading to hydrops fetalis and neonatal demise.

Sonographic femur length to trunk cross area ratio: prediction of fetal outcome in 30 cases in which micromelia was suspected.

AIM: The purpose of the present study was to investigate the potential value of fetal routine sonographic biometry in evaluating micromelias. METHODS: Thirty fetuses had a presumptive diagnosis of micromelia from antepartum ultrasound examinations during the period between 1 April 1996 and 31 March 2005. The postnatal clinical features, final diagnoses and outcomes were examined to retrospectively compare these cases with biometric parameters obtained from routine antepartum ultrasound examinations. RESULTS: Final diagnoses included skeletal dysplasia (16), small-for-dates (SFD) infant without any abnormalities (seven), chromosomal abnormality (three), pyruvate dehydrogenase complex deficiency (one), Marden-Walker syndrome (one), and suspected Freeman-Sheldon syndrome (one). One turned out to be a healthy infant. All cases were divided on the basis of the final diagnoses into three groups: skeletal dysplasia (16 fetuses), SFD and healthy infant (eight fetuses) and others (six fetuses). The ratios of femur length (FL) to mean FL at a given gestational age (%FL) and of FL to biparietal diameter (FL/BPD) were significantly lower in the skeletal dysplasia group than those in the other groups. Moreover, in the skeletal dysplasia group, when the lethal cases were excluded, the ratio of FL to fetal trunk cross area (FL/FTA) was significantly lower than that in the other groups. CONCLUSIONS: FL/FTA appears to be a useful parameter to help differentiate fetuses with non-lethal skeletal dysplasia from anatomically normal fetuses either with constitutionally short limbs or with intrauterine growth restriction (IUGR).

CMV DNA detection in dried blood spots for diagnosing congenital CMV infection in Japan.

Human cytomegalovirus (CMV) is a leading congenital infectious agent in developed countries. In the past, the incidence of congenital infection has been rather low in Japan because a high seroprevalence of CMV present in young women. However, this seroprevalence has been decreasing in recent years, so that the incidence of congenital CMV infection in Japanese neonates may increase and approach the level seen in other developed countries. The method was used for detecting CMV DNA reported by Barbi et al. [Barbi et al. (1996): Clin Diagn Virol 6:27-32] using a dried blood spot on filter paper, to diagnose congenital CMV infection in Japanese neonates. This method is effective and less laborious than virus isolation both for epidemiological studies and for identifying asymptomatic infected babies. Japanese neonates (1,176) were examined; two of who were asymptomatic were found to be infected.