Prenatal diagnosis of ductus venosus agenesis and its association with cytogenetic/congenital anomalies

Paolo Volpe, Maurizio Marasini, Gilda Caruso, Mario Lituania, Andrea Marzullo, Gennaro Volpe, Mattia Gentile

Research output: Contribution to journalArticlepeer-review

Abstract

Objectives We present an observational study of 12 cases of anomalies of the umbilical and portal vein systems associated with absence of the ductus venosus (DV) diagnosed over the past 5 years. The hemodynamic implications of each pattern of umbilico-portal system anomalies associated with absence of the DV have been investigated, as well as the frequency and types of associated anomalies and their embryological origin. Methods In all cases ultrasound, color Doppler, and cytogenetic investigations were performed. Results Four main patterns of abnormal venous circulation were documented: (1) the umbilical vein (UV) bypasses the liver and drains into the right atrium directly or through a dilated coronary sinus (three cases); (2) the UV bypasses the liver, with an infrahepatic or suprahepatic connection directly to the inferior vena cava (IVC) (two cases); (3) the UV bypasses the liver and drains directly into the iliac or renal veins (four cases); and (4) the UV drains directly into the portal veins (three cases). Among seven cases with other associated anomalies (58%), there were three cases of Turner's and Noonan's syndromes. Two fetuses and two neonates died and there were two terminations of pregnancy (TOP). Conclusions In utero diagnosis of ultrasound patterns associated with DV anomalies is feasible. Fetal karyotyping should be considered, serial ultrasound examinations recommended and, in the presence of heart failure, delivery can be anticipated.

Original languageEnglish
Pages (from-to)995-1000
Number of pages6
JournalPrenatal Diagnosis
Volume22
Issue number11
DOIs
Publication statusPublished - Nov 2002

Keywords

  • Congenital anomalies
  • Ductus venosus
  • Prenatal diagnosis
  • Turner's syndrome
  • Ultrasound

ASJC Scopus subject areas

  • Genetics(clinical)
  • Obstetrics and Gynaecology

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