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.
Highlights
Heart anomalies are the most common congenital defect (CHD) with an incidence of 2.5–9:1000 live births [1,2,3] and are associated with an increased risk for chromosomal anomalies
We identified 126 cases with ventricular septal defect (VSD) and no additional cardiac anomaly
In 12 cases referred for a suspected structural problem (pericardial effusion, intra uterine growth restriction (IUGR), anomalies, soft signs), these were not confirmed on a repeat scan and, not excluded
Summary
Heart anomalies are the most common congenital defect (CHD) with an incidence of 2.5–9:1000 live births [1,2,3] and are associated with an increased risk for chromosomal anomalies. Ventricular septal defect (VSD) is the most common CHD, comprising 25%–32% of those diagnosed during the first year of life [4,5]. Detection rates in gestation vary widely with different populations and different examiners with an incidence of 1–6.6:1000 live births [5]. We found no studies in the literature that attempted to assess the risk of trisomy 21 when an isolated VSD, with no additional major anomalies or soft signs for Down syndrome (DS)%, was detected prenatally.
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