TY - JOUR

T1 - Prenatally detected isolated ventricular septum defects and the association with chromosomal aberrations - a nationwide register-based study from Denmark

AU - Vedel, Cathrine

AU - Rode, Line

AU - Jørgensen, Finn Stener

AU - Petersen, Olav Bjørn

AU - Sundberg, Karin

AU - Tabor, Ann

AU - Ekelund, Charlotte Kvist

N1 - © 2020 John Wiley & Sons Ltd.

PY - 2020/10/21

Y1 - 2020/10/21

N2 - 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.

AB - 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.

U2 - 10.1002/pd.5853

DO - 10.1002/pd.5853

M3 - Journal article

SP - e-pub

JO - Prenatal Diagnosis

JF - Prenatal Diagnosis

SN - 0197-3851

ER -