title: Prenatal Isolated Ventricular Septal Defect May Not Be Associated with Trisomy 21.
abstract: 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.
authors.affiliation: Department of Obstetrics and Gynecology, Shaare Zedek Medical Center pob 3235, Jerusalem 91031, Israel. orishen@netvision.net.il.
authors.forename: Ori
authors.initials: O
authors.lastname: Shen
authors.affiliation: Genetics Unit, Shaare Zedek Medical Center, Jerusalem 91031, Israel. sari@szmc.org.il.
authors.forename: Sari
authors.initials: S
authors.lastname: Lieberman
authors.affiliation: Department of Pediatric Cardiology, Shaare Zedek Medical Center pob 3235, Jerusalem 91031, Israel. noralia@walla.com.
authors.forename: Benjamin
authors.initials: B
authors.lastname: Farber
authors.affiliation: Department of Obstetrics and Gynecology, Shaare Zedek Medical Center pob 3235, Jerusalem 91031, Israel. terner10@netvision.net.il.
authors.forename: Daniel
authors.initials: D
authors.lastname: Terner
authors.affiliation: Department of Family Medicine, Hebrew University, Jerusalem 91120, Israel. genetics@szmc.org.il.
authors.forename: Amnon
authors.initials: A
authors.lastname: Lahad
authors.affiliation: Genetics Unit, Shaare Zedek Medical Center, Jerusalem 91031, Israel. lahad@szmc.org.il.
authors.forename: Ephrat
authors.initials: E
authors.lastname: Levy-Lahad
keywords: congenital heart disease; prenatal diagnosis; trisomy 21; ventriculoseptal defect