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Beyond Trisomy 21: Additional Chromosomal Anomalies Detected through Routine Aneuploidy Screening
Open AccessArticle

Prenatal Isolated Ventricular Septal Defect May Not Be Associated with Trisomy 21

1
Department of Obstetrics and Gynecology, Shaare Zedek Medical Center pob 3235, Jerusalem 91031, Israel
2
Department of Pediatric Cardiology, Shaare Zedek Medical Center pob 3235, Jerusalem 91031, Israel
3
Genetics Unit, Shaare Zedek Medical Center, Jerusalem 91031, Israel
4
Department of Family Medicine, Hebrew University, Jerusalem 91120, Israel
*
Author to whom correspondence should be addressed.
J. Clin. Med. 2014, 3(2), 432-439; https://doi.org/10.3390/jcm3020432
Received: 19 December 2013 / Revised: 25 February 2014 / Accepted: 4 March 2014 / Published: 23 April 2014
(This article belongs to the Special Issue Prenatal Genetic Screening and Diagnosis-Part 2)
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. View Full-Text
Keywords: congenital heart disease; prenatal diagnosis; trisomy 21; ventriculoseptal defect congenital heart disease; prenatal diagnosis; trisomy 21; ventriculoseptal defect
MDPI and ACS Style

Shen, O.; Lieberman, S.; Farber, B.; Terner, D.; Lahad, A.; Levy-Lahad, E. Prenatal Isolated Ventricular Septal Defect May Not Be Associated with Trisomy 21. J. Clin. Med. 2014, 3, 432-439.

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