Prenatal Isolated Ventricular Septal Defect May Not Be Associated with Trisomy 21
The aim of this study was to examine if isolated fetal ventricular septal defect (VSD) is associated with trisomy 21. One hundred twenty six cases with prenatal VSD diagnosed by a pediatric cardiologist were reviewed. Cases with known risk factors for congenital heart disease, the presence of other...
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doaj-56f3f77d392e44d6bcfa216800a9cfdd2020-11-24T21:20:17ZengMDPI AGJournal of Clinical Medicine2077-03832014-04-013243243910.3390/jcm3020432jcm3020432Prenatal Isolated Ventricular Septal Defect May Not Be Associated with Trisomy 21Ori Shen0Sari Lieberman1Benjamin Farber2Daniel Terner3Amnon Lahad4Ephrat Levy-Lahad5Department of Obstetrics and Gynecology, Shaare Zedek Medical Center pob 3235, Jerusalem 91031, IsraelGenetics Unit, Shaare Zedek Medical Center, Jerusalem 91031, IsraelDepartment of Pediatric Cardiology, Shaare Zedek Medical Center pob 3235, Jerusalem 91031, IsraelDepartment of Obstetrics and Gynecology, Shaare Zedek Medical Center pob 3235, Jerusalem 91031, IsraelDepartment of Family Medicine, Hebrew University, Jerusalem 91120, IsraelGenetics Unit, Shaare Zedek Medical Center, Jerusalem 91031, IsraelThe aim of this study was to examine if isolated fetal ventricular septal defect (VSD) is associated with trisomy 21. One hundred twenty six cases with prenatal VSD diagnosed by a pediatric cardiologist were reviewed. Cases with known risk factors for congenital heart disease, the presence of other major anomalies, soft signs for trisomy 21 or a positive screen test for trisomy 21 were excluded. Ninety two cases formed the study group. None of the cases in the study group had trisomy 21. The upper limit of prevalence for trisomy 21 in isolated VSD is 3%. When prenatal VSD is not associated with other major anomalies, soft markers for trisomy 21 or a positive nuchal translucency or biochemical screen, a decision whether to perform genetic amniocentesis should be individualized. The currently unknown association between isolated VSD and microdeletions and microduplications should be considered when discussing this option.http://www.mdpi.com/2077-0383/3/2/432congenital heart diseaseprenatal diagnosistrisomy 21ventriculoseptal defect |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Ori Shen Sari Lieberman Benjamin Farber Daniel Terner Amnon Lahad Ephrat Levy-Lahad |
spellingShingle |
Ori Shen Sari Lieberman Benjamin Farber Daniel Terner Amnon Lahad Ephrat Levy-Lahad Prenatal Isolated Ventricular Septal Defect May Not Be Associated with Trisomy 21 Journal of Clinical Medicine congenital heart disease prenatal diagnosis trisomy 21 ventriculoseptal defect |
author_facet |
Ori Shen Sari Lieberman Benjamin Farber Daniel Terner Amnon Lahad Ephrat Levy-Lahad |
author_sort |
Ori Shen |
title |
Prenatal Isolated Ventricular Septal Defect May Not Be Associated with Trisomy 21 |
title_short |
Prenatal Isolated Ventricular Septal Defect May Not Be Associated with Trisomy 21 |
title_full |
Prenatal Isolated Ventricular Septal Defect May Not Be Associated with Trisomy 21 |
title_fullStr |
Prenatal Isolated Ventricular Septal Defect May Not Be Associated with Trisomy 21 |
title_full_unstemmed |
Prenatal Isolated Ventricular Septal Defect May Not Be Associated with Trisomy 21 |
title_sort |
prenatal isolated ventricular septal defect may not be associated with trisomy 21 |
publisher |
MDPI AG |
series |
Journal of Clinical Medicine |
issn |
2077-0383 |
publishDate |
2014-04-01 |
description |
The aim of this study was to examine if isolated fetal ventricular septal defect (VSD) is associated with trisomy 21. One hundred twenty six cases with prenatal VSD diagnosed by a pediatric cardiologist were reviewed. Cases with known risk factors for congenital heart disease, the presence of other major anomalies, soft signs for trisomy 21 or a positive screen test for trisomy 21 were excluded. Ninety two cases formed the study group. None of the cases in the study group had trisomy 21. The upper limit of prevalence for trisomy 21 in isolated VSD is 3%. When prenatal VSD is not associated with other major anomalies, soft markers for trisomy 21 or a positive nuchal translucency or biochemical screen, a decision whether to perform genetic amniocentesis should be individualized. The currently unknown association between isolated VSD and microdeletions and microduplications should be considered when discussing this option. |
topic |
congenital heart disease prenatal diagnosis trisomy 21 ventriculoseptal defect |
url |
http://www.mdpi.com/2077-0383/3/2/432 |
work_keys_str_mv |
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