Increased Nuchal Translucency and Ventricular Septal Defect in the Fetus
Ultrasound measurement of the sonolucent area in the fetal neck at 10 to 14 weeks of gestation is a noninvasive way to assess risks of chromosomal abnormalities. Increased measurements are associated with an increased risk of fetal karyotypic abnormalities (in particular the risk of trisomy 21). Similarly, in chromosomally normal fetuses, there appears to be a further association with a higher prevalence of congen- ital cardiac abnormalities, as well as a higher prevalance of genetic syndromes.
In images here were obtained from a fetus with abnormal nuchal translucency at 13+3 weeks of gestation. Fetal karyo- typing determined through chorion villus sampling revealed normal chromosomes. By 20+4 weeks of gestation, there had been resolution of the nuchal edema, and detailed extracardiac assessment showed no obvious structural fetal abnormal- ities. Fetal echocardiography performed at 22+4 weeks showed the presence of a large malalignment perimembranous ventricular septal defect. There were no other risk factors for congenital heart disease.
From 28 weeks of gestation onward, the fetal growth velocity was along the 5th percentile, with normal hemodynamics. After delivery, a neonatal echocardiogram confirmed the presence of a large ventricular septal defect. In addition, the newborn showed several dysmorphic features.
Dr Schwarzler was supported by grant from the Austrian FWF Foundation (J01428).
The editor of Images in Cardiovascular Medicine is Hugh A. McAllister, Jr, MD, Chief, Department of Pathology, St Luke’s Episcopal Hospital and Texas Heart Institute, and Clinical Professor of Pathology, University of Texas Medical School and Baylor College of Medicine.
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