OP32.09: Prenatal diagnosis of ductus venosus agenesis: anatomic variants, associated anomalies and impact on the postnatal course

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.

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Prenatal diagnosis of clubfoot in low-risk population: associated anomalies and long-term outcome

Prenatal Diagnosis ◽

10.1002/pd.1984 ◽

2008 ◽

Vol 28 (4) ◽

pp. 343-346 ◽

Cited By ~ 23

Author(s):

M. J. Canto ◽

S. Cano ◽

J. Palau ◽

F. Ojeda

Keyword(s):

Prenatal Diagnosis ◽

Low Risk ◽

Associated Anomalies ◽

Term Outcome ◽

Risk Population ◽

Long Term Outcome

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Prenatal diagnosis of two intrahepatic portosystemic shunts associated with absence of ductus venosus

Ultrasound in Obstetrics and Gynecology ◽

10.1002/uog.21944 ◽

2020 ◽

Vol 55 (6) ◽

pp. 845-847

Author(s):

R. Bardin ◽

M. Shapira‐Rotman ◽

O. Konen‐Cohen ◽

Y. Mozer‐Glassberg ◽

E. Bruckheimer ◽

...

Keyword(s):

Prenatal Diagnosis ◽

Ductus Venosus ◽

Portosystemic Shunts

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Lymphedema

10.1093/med/9780190276478.003.0007 ◽

2017 ◽

Author(s):

Virginia P. Sybert

Keyword(s):

Differential Diagnosis ◽

Prenatal Diagnosis ◽

Associated Anomalies ◽

Treatment Mode ◽

Basic Defect ◽

Mode Of Inheritance

Chapter 7 covers Cholestasis-Lymphedema Syndrome, Distichiasis and Lymphedema, and Hereditary Lymphedema. Each condition is discussed in detail, including dermatologic features, associated anomalies, histopathology, basic defect, treatment, mode of inheritance, prenatal diagnosis, and differential diagnosis.

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Prenatal diagnosis of tibial hemimelia type I and omphalocele, a rare entity and postnatal correlation

BJR|case reports ◽

10.1259/bjrcr.20200002 ◽

2020 ◽

pp. 20200002

Author(s):

Saulo Molina-Giraldo ◽

Jesus Armando Saucedo ◽

Antonio José Navarro-Devia ◽

Marcela Buitrago-Leal

Keyword(s):

Prenatal Diagnosis ◽

Ultrasound Imaging ◽

Type I ◽

Long Bones ◽

Rare Entity ◽

Associated Anomalies ◽

Detection Rates ◽

Live Births ◽

Prenatal Detection ◽

Rare Anomaly

Hemimelia is a rare anomaly affecting the distal long bones of extremities, with an occurrence of 1–20 cases per million of live births depending on the affected bone. Hemimelia can be an isolated defect or be part of complex syndromes that affect extra skeletal structures. Prenatal detection by routine ultrasound imaging is difficult and yields low detection rates. The prenatal diagnosis of hemimelia should prompt a complete and detailed study of the fetal anatomy, since it can be associated with defects in other structures and systems, as the reported in this case. The prognosis depends upon the associated anomalies.

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