AI Article Synopsis
- Three pregnancies showed enlarged nuchal translucency during first-trimester ultrasounds, which later led to congenital heart disease diagnoses.
- Two pregnancies involved the prenatal diagnosis of hypoplastic left heart syndrome, resulting in termination of the pregnancies.
- The third case revealed supravalvular pulmonary stenosis at birth and a confirmed mutation linked to Williams-Beuren syndrome, highlighting the significance of nuchal translucency as a risk indicator for congenital heart issues.
Article Abstract
We report three pregnancies where enlarged nuchal translucency was discovered at the first trimester transvaginal ultrasound examination; congenital heart disease developed later. Two cases of hypoplastic left heart were diagnosed prenatally at the mid-trimester sonographic examination. The pregnancies were terminated. In the third case, a supravalvular pulmonary stenosis was discovered on the second day of life. Further investigations demonstrated a mutation on the elastin locus, thus confirming the diagnosis of Williams-Beuren syndrome. The role of nuchal translucency as a risk marker for congenital heart disease is discussed.
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