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The Capital Region of Denmark - a part of Copenhagen University Hospital
E-pub ahead of print

Prenatally detected isolated ventricular septum defects and the association with chromosomal aberrations - a nationwide register-based study from Denmark

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OBJECTIVE: To evaluate the association between prenatally detected isolated ventricular septum defects (VSDs) and chromosomal aberrations in a nationwide study in Denmark.

METHOD: Nationwide, register-based study with prospectively collected data including all singleton pregnancies from 2014-2018. From the Danish Fetal Medicine Database, we retrieved data on maternal characteristics, 1st -trimester biomarkers, pre- and postnatal diagnoses, genetic test results, and pregnancy outcomes. VSDs were considered isolated in the absence of other malformations or soft markers, and with a low 1st -trimester risk assessment for trisomies 21, 18 and 13. All cases of an isolated VSD with a chromosomal anomaly were audited. The genetic tests included karyotyping and chromosomal microarray.

RESULTS: We retrieved data on 292,108 singleton pregnancies; 323 registered with a prenatally detected VSD and 697 with a VSD detected postnatally (incidence of 0.35%). Only 1/153 (0.7%, 95% CI 0.02;3.6%) of the isolated prenatally detected VSDs had an abnormal genetic test result (del(8)(q23.1)). Moreover, they had a lower free β-hCG MoM (0.9 MoM vs. 0.99 MoM, p=0.02), and were more likely born small for gestational age (SGA), defined as birthweight 2 or more SD below the mean, compared with the control population (5.2% vs. 2.5%, p=0.03).

CONCLUSION: We found a prevalence of chromosomal aberrations of 0.7% in fetuses with a prenatally detected isolated VSD. Moreover, we found an association between isolated VSDs and a larger proportion being born SGA. This article is protected by copyright. All rights reserved.

Original languageEnglish
JournalPrenatal Diagnosis
Pages (from-to)e-pub
Publication statusE-pub ahead of print - 21 Oct 2020

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© 2020 John Wiley & Sons Ltd.

ID: 61104746