Prenatal Diagnosis of Agenesis of Ductus Venosus: A Retrospective Study of Anatomic Variants, Associated Anomalies and Impact on Postnatal Outcome

Abstract

Purpose To assess the anatomic variants, associated anomalies and postnatal outcome of fetuses with a prenatally diagnosed agenesis of ductus venosus (ADV).

Materials and Methods Retrospective study of 119 cases with agenesis of ductus venosus diagnosed by prenatal ultrasound in two tertiary referral centers from 2006 to 2014. The type and location of the umbilical venous drainage site was noted. Charts were reviewed for associated structural or chromosomal anomalies, pregnancy outcome and postnatal course.

Results In 24 cases (20.2 %) ADV was an isolated finding, while 95 cases (79.8 %) had associated anomalies. We identified 84 cases (70.6 %) with intrahepatic and 35 cases (29.4 %) with extrahepatic drainage of the umbilical vein. 58.8 % of neonates were alive at follow-up. There was no statistical association between drainage site and associated anomalies or outcome. Postnatal outcome was determined by the presence and severity of associated anomalies. There was no adverse outcome in the isolated group related to ADV. Overall, there were 6 persistent portosystemic shunts, 3 of them with a spontaneous closure, and one total agenesis of the portal venous system with lethal outcome.

Conclusion Postnatal outcome in cases with ADV mainly depends on the presence of associated anomalies. In isolated cases the prognosis is generally good, but neonates with a prenatally diagnosed portosystemic shunt should be followed until its occlusion. Portal venous system agenesis is rare but should be ruled out on prenatal ultrasound.

Zusammenfassung

Ziel Beschreibung der anatomischen Varianten, Begleitfehlbildungen und des postnatalen Outcomes von Feten mit einer pränatal diagnostizierten Ductus venosus-Agenesie (ADV).

Material und Methode Retrospektive Analyse von 119 Fällen mit pränataler sonografischer Diagnose einer Ductus venosus-Agenesie an zwei tertiären Pränatalzentren zwischen 2006 und 2014. Beschreibung von Art und Lokalisation der Drainage der Vena umbilicalis sowie begleitender struktureller oder chromosomaler Anomalien, Schwangerschaftsausgang und postnatalem Verlauf.

Ergebnisse In 24 Fällen (20,2 %) war die ADV isoliert und in 95 Fällen (79,8 %) zeigten sich weitere Auffälligkeiten. 84 Fälle (70,6 %) wiesen einen intrahepatischen und 35 Fälle (29,4 %) einen extrahepatischen Shunt der Vena umbilicalis auf. 58,8 % der Kinder lebten zum Zeitpunkt der Datenerhebung. Es zeigte sich kein statistisch signifikanter Zusammenhang zwischen Typ der Drainage, Begleitfehlbildungen und Outcome. Der postnatale Verlauf wurde von Vorhandensein und Schwere der Begleitfehlbildungen bestimmt, in der Gruppe mit isolierter ADV gab es keine direkten Todesfälle. Insgesamt gab es 6 persistierende portosystemische Shunts, 3 davon verschlossen sich spontan. Ein Kind verstarb an den Folgen einer totalen portalen Agenesie.

Schlussfolgerungen Der postnatale Verlauf wird bei ADV überwiegend vom Vorhandensein von assoziierten Anomalien bestimmt. In isolierten Fällen ist die Prognose gut, Neonaten mit pränatal diagnostiziertem portosystemischem Shunt sollten allerdings bis zu dessen Verschluss nachbeobachtet werden. Eine portale Agenesie ist selten, sollte aber beim pränatalen Ultraschall ausgeschlossen werden.

Key words

portosystemic shunt - intrahepatic drainage - extrahepatic drainage - outcome - ductus venosus agenesis

^* both authors contributed equally to the manuscript

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