Increased nuchal translucency and ventricular septal defect in the fetus

Abstract

HomeCirculationVol. 99, No. 19Increased Nuchal Translucency and Ventricular Septal Defect in the Fetus Free AccessOtherPDF/EPUBAboutView PDFView EPUBSections ToolsAdd to favoritesDownload citationsTrack citationsPermissions ShareShare onFacebookTwitterLinked InMendeleyReddit Jump toFree AccessOtherPDF/EPUBIncreased Nuchal Translucency and Ventricular Septal Defect in the Fetus J. S. Carvalho, Marie-Victoire Senat, Peter Schwarzler and Yves Ville J. S. CarvalhoJ. S. Carvalho 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. Search for more papers by this author , Marie-Victoire SenatMarie-Victoire Senat 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. Search for more papers by this author , Peter SchwarzlerPeter Schwarzler 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. Search for more papers by this author and Yves VilleYves Ville 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. Search for more papers by this author Originally published18 May 1999https://doi.org/10.1161/01.CIR.99.19.e10Circulation. 1999;99:e10Ultrasound 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.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.Download figureDownload PowerPoint 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).Download figureDownload PowerPoint 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.Download figureDownload PowerPoint 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.Download figureDownload PowerPoint 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.Dr Schwarzler was supported by grant from the Austrian FWF Foundation (J01428).FootnotesCorrespondence to J.S. Carvalho, Royal Brompton and Harefield NHS Trust, Sydney St, London SW4 6HT, UK, E-mail [email protected] Previous Back to top Next FiguresReferencesRelatedDetailsCited By James D, Steer P, Weiner C, Gonik B and Robson S (2017) High-Risk Pregnancy Kimta N and Yves V (2011) First-Trimester Screening for Fetal Abnormalities High Risk Pregnancy, 10.1016/B978-1-4160-5908-0.00007-7, (97-119.e6), . Jou H, Wu S, Li T, Hsu H, Tzeng C and Hsieh F (2002) Relationship between fetal nuchal translucency and crown-rump length in an Asian population, Ultrasound in Obstetrics and Gynecology, 10.1046/j.1469-0705.2001.00332.x, 17:2, (111-114), Online publication date: 1-Feb-2001. May 18, 1999Vol 99, Issue 19 Advertisement Article InformationMetrics Copyright © 1999 by American Heart Associationhttps://doi.org/10.1161/01.CIR.99.19.e10 Originally publishedMay 18, 1999 PDF download Advertisement