The genetic and clinical outcome of isolated fetal muscular ventricular septal defect (VSD)

Introduction: Our objective was to evaluate the incidence of chromosomal aberration (both microscopic and submicroscopic) and the clinical outcome of fetuses with isolated muscular ventricular septal defect (VSD). Material and methods: The study included 40 pregnant women whose fetuses were diagnose...

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Published in:The journal of maternal-fetal & neonatal medicine 2019-09, Vol.32 (17), p.2837-2841
Main Authors: Svirsky, Ran, Brabbing-Goldstein, Dana, Rozovski, Uri, Kapusta, Livia, Reches, Adi, Yaron, Yuval
Format: Article
Language:English
Subjects:
Amniocentesis
Child, Preschool
chromosomal microarray analysis
Chromosome Aberrations
clinical outcome
CMA
CNV
copy number variant
Echocardiography
Female
Gestational Age
Heart Septal Defects, Ventricular - diagnosis
Heart Septal Defects, Ventricular - embryology
Heart Septal Defects, Ventricular - genetics
Humans
Infant
Infant, Newborn
Male
Microarray Analysis
Pregnancy
Pregnancy Outcome
Remission, Spontaneous
Ultrasonography, Prenatal
Ventricular septal defect
VSD
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Summary:Introduction: Our objective was to evaluate the incidence of chromosomal aberration (both microscopic and submicroscopic) and the clinical outcome of fetuses with isolated muscular ventricular septal defect (VSD). Material and methods: The study included 40 pregnant women whose fetuses were diagnosed with isolated muscular ventricular septal defect (mVSD). Of these, 30 patients underwent amniocentesis and 10 declined. All samples were tested by chromosomal microarray analysis (CMA). Of the 40 women in the study, 32 gave birth and the clinical outcome of the children was retrieved from the patients' medical records. Results: Of the 30 patients who underwent amniocentesis, one was detected with mosaic Klinefelter syndrome and one was detected with a pathogenic copy number variant unrelated to the VSD. Clinical follow-up was performed on 26 children after birth. The first postnatal echocardiography did not detect a VSD in 13 (50%) of the followed-up children. Spontaneous closure occurred in another eight (30.8%) children during the postnatal follow-up period. In only five children (19.2%) VSD was still detected by echocardiography after the first year of life. Discussion: Isolated muscular VSD diagnosed prenatally does not appear to be a significant risk factor for chromosomal abnormalities and has a favorable clinical outcome.
ISSN:1476-7058
1476-4954
DOI:10.1080/14767058.2018.1449829