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(Circulation. 1999;99:E10.)
© 1999 American Heart Association, Inc.

Circulation Electronic Pages

Increased Nuchal Translucency and Ventricular Septal Defect in the Fetus

J. S. Carvalho, MD, PhD, MRCPCH; Marie-Victoire Senat, MD; Peter Schwarzler, MD; Yves Ville, MD

From the Fetal Medicine Unit, St George's Hospital (J.S.C., M.V.S., P.S., Y.V.), and Royal Brompton and Harefield NHS Trust (J.S.C.), London, UK.

Correspondence to J.S. Carvalho, Royal Brompton and Harefield NHS Trust, Sydney St, London SW4 6HT, UK, E-mail carvalho{at}eas-jsc.demon.co.uk

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.

View larger version (141K): [in this window] [in a new window]   Figure 1. Sagittal view of fetus at 13+3 weeks of gestation showing increased nuchal translucency measurements (measurements between calipers, 3 mm; 95th percentile, 2.5 mm).

View larger version (137K): [in this window] [in a new window]   Figure 2. Transverse sections through fetal chest at 22+4 weeks. A, Normal 4-chamber view of heart. B, Five-chamber view, obtained with cephalic angulation of transducer, demonstrates presence of a large perimembranous ventricular septal defect (arrow) with apposition of tricuspid valve tissue. RA indi-cates right atrium; LA, left atrium; RV, right ventricle; LV, left ventricle; AO, aorta; RT, right; LT, left.

View larger version (82K): [in this window] [in a new window]   Figure 3. Longitudinal oblique sections through same fetus in which long-axis view of left ventricle is seen. A, Note area of discontinuity of ventricular septum of demension similar to that of aortic root together with anterior displacement of outlet septum (arrow). B, Color flow mapping demonstrates presence of left-to-right flow signal through defect at time of ejection to both aortic and pulmonary outflow tracts. PA indicates pulmonary artery; VSD, ventricular septal defect; other abbreviations as in Figure 2.

View larger version (51K): [in this window] [in a new window]   Figure 4. Pulsed-wave Doppler signal across ventricular septal defect shows presence of low-velocity systolic left-to-right flow across defect and also reveals normal mitral inflow signal during ventricular diastole. Abbreviations as in Figure 2.

Acknowledgments

Dr Schwarzler was supported by grant from the Austrian FWF Foundation (J01428).

Footnotes

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.

Circulation encourages readers to submit cardiovascular images to Dr Hugh A. McAllister, Jr, St Luke's Episcopal Hospital and Texas Heart Institute, 6720 Bertner Ave, MC1-267, Houston, TX 77030.

This Article Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Request Permissions Citing Articles Citing Articles via Google Scholar Google Scholar Articles by Carvalho, J. S. Articles by Ville, Y. Search for Related Content PubMed PubMed Citation Articles by Carvalho, J. S. Articles by Ville, Y. Related Collections Coronary imaging: angiography/ultrasound/Doppler/CC Pediatric and congenital heart disease, including cardiovascular surgery