Umbilical vein anomaly in fetuses with Down syndrome

Abstract

ABSTRACT

Sonographic Diagnosis of Multiple Cardiovascular Malformations in a Fetus With an Interstitial 8p23.1 Deletion

“…According to Berg et al, 8 it is suggested that in the presence of cardiac malformations, complex nonchromosomal malformation syndromes in combination with an absent ductus venosus are significantly associated with intrauterine or postnatal death independent of the venous drainage site. The potential association of an aberrant right subclavian artery with chromosomal anomalies (particularly Down syndrome) and nonchromosomal defects (congenital heart disease) has been well established 9 , 10 . The observed subclavian vessel rearrangement in our case was in line with previous reports of an aberrant right subclavian artery accompanying cardiac defects as part of underlying genetic disorders.…”

The Genetic Sonogram—Structural Anomalies in the Assessment of Trisomy 21: Case Reports and a Literature Review

“…Achiron et al 40 have found that in 11% the UV was connected to the hepatic portion of the inferior vena cava (IVC) at a position lower than its usual site while only 0.12% fetuses with normal karyotype demonstrated similar anomalous insertion of the UV into the IVC, making the OR for abnormal umbilicoportal venous system in fetuses with DS compared with the normal population of 107.4. Our case had also the same UV anomaly.…”

Umbilical Vein Insertion into the Inferior Vena Cava

“…Abnormal drainage of the fetal umbilical vein (UV) with absence of the ductus venosus (DV) is a rare condition with a prevalence of 1 per 2500 fetuses 1 , 2 . Previous reports described an association with additional congenital malformations.…”

“…Other studies reported drainage of the UV directly into the IVC in fetuses with hydrops fetalis and cardiovascular malformations 4 – 7 . Achiron et al 2 reported an increased risk of abnormal connection of the UV to the hepatic portion of the IVC at a position lower than its usual site in fetuses with Down syndrome, and Staboulidou et al 8 reported an association with aneuploidies.…”

“…The incorporation of modern high‐resolution ultrasound machines combined with color Doppler sonography improved the detection of such anomalies to as early as the first trimester 1 , 2 . The objective of this series was to describe the sonographic characteristics and the pregnancy outcomes of 6 cases with abnormal insertion of the UV into the IVC as well as to emphasize the role of this finding with regard to chromosomal abnormalities.…”