title: Prenatal diagnosis of intrahepatic communications of the umbilical vein with atypical arteries (A-V fistulae) in two cases of trisomy 21 using color Doppler ultrasound.
abstract: We report on two cases of the prenatal diagnosis of arterio-venous communication between the intra-abdominal umbilical vein and atypical arteries. The diagnosis was made by color and spectral Doppler and 'color power angiography'. Both cases presented with hydrops fetalis, one at 14 and the other at 31 weeks of gestation. In the first case, color Doppler demonstrated an atypical arterial vessel connecting the umbilical vein with the aorta; the ductus venosus was patent. Echocardiography showed a so-called atrioventricular canal. In the second case, a complex intrahepatic vascular malformation was found. Color Doppler demonstrated communications between the umbilical vein and the hepatic artery and an atypical artery; the ductus venosus was patent. In the latter case polyhydramnios, duodenal atresia and macroglossia were additionally detected. In both cases, fetal karyotyping revealed trisomy 21. The first case resulted in a missed abortion, the second in a stillbirth. All findings were confirmed on autopsy. Of interest is that both fetuses were affected with trisomy 21. The increasing use of color Doppler in prenatal diagnosis, especially in hemodynamically compromised fetuses, will help to determine the actual incidence of complex vascular malformations of the umbilical vein and to elucidate the impact of such malformations on fetal outcome.
authors.affiliation: Department of Prenatal Medicine, Humboldt-University, Charité Berlin (Campus Mitte), Schumannstr. 20/21, 10098 Berlin, Germany.
authors.forename: J
authors.initials: J
authors.lastname: Hartung
authors.forename: R
authors.initials: R
authors.lastname: Chaoui
authors.forename: K
authors.initials: K
authors.lastname: Kalache
authors.forename: C
authors.initials: C
authors.lastname: Tennstedt
authors.forename: R
authors.initials: R
authors.lastname: Bollmann
mesh_terms: D000328:Adult; D001164:Arteriovenous Fistula / Q000150:complications / Q000000981:diagnostic imaging*; D004314:Down Syndrome / Q000150:complications*; D005260:Female; D005313:Fetal Death; D005315:Fetal Diseases / Q000000981:diagnostic imaging*; D006801:Humans; D011247:Pregnancy; D018615:Ultrasonography, Doppler, Color; D016216:Ultrasonography, Prenatal