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Nuchal Translucency and the Risk of Congenital Heart Disease

Simpson, Lynn L. MD; Malone, Fergal D. MD; Bianchi, Diana W. MD; Ball, Robert H. MD; Nyberg, David A. MD; Comstock, Christine H. MD; Saade, George MD; Eddleman, Keith MD; Gross, Susan J. MD; Dugoff, Lorraine MD; Craigo, Sabrina D. MD; Timor-Tritsch, Ilan E. MD; Carr, Stephen R. MD; Wolfe, Honor M. MD; Tripp, Tara MA; D'Alton, Mary E. MD

doi: 10.1097/01.AOG.0000250473.99575.72
Original Research

OBJECTIVE: To estimate whether nuchal translucency assessment is a useful screening tool for major congenital heart disease (CHD) in the absence of aneuploidy.

METHODS: Unselected patients with singleton pregnancies at 103/7 to 136/7 weeks of gestation were recruited at 15 U.S. centers to undergo nuchal translucency sonography. Screening characteristics of nuchal translucency in the detection of major CHD were determined using different cutoffs (2.0 or more multiples of the median [MoM], 2.5 or more MoM, 3.0 or more MoM).

RESULTS: A total of 34,266 euploid fetuses with cardiac outcome data were available for analysis. There were 224 cases of CHD (incidence 6.5 per 1,000), of which 52 (23.2%) were major (incidence 1.5 per 1,000). The incidence of major CHD increased with increasing nuchal translucency: 14.1 per 1,000, 33.5 per 1,000, and 49.5 per 1,000 at 2.0 or more MoM, 2.5 or more MoM, and 3.0 or more MoM cutoffs, respectively. Sensitivity, specificity, and positive predictive values were 15.4%, 98.4%, and 1.4% at 2.0 or more MoM; 13.5%, 99.4%, and 3.3% at 2.5 or more MoM; and 9.6%, 99.7%, and 5.0% at 3.0 or more MoM. Nuchal translucency of 2.5 or more MoM (99th percentile) had a likelihood ratio (95% confidence interval) of 22.5 (11.4–45.5) for major CHD. Based on our data, for every 100 patients referred for fetal echocardiography with a nuchal translucency of 99th percentile or more, three will have a major cardiac anomaly.

CONCLUSION: Nuchal translucency sonography in the first trimester lacks the characteristics of a good screening tool for major CHD in a large unselected population. However, nuchal translucency of 2.5 or more MoM (99th percentile or more) should be considered an indication for fetal echocardiography.


Nuchal translucency sonography in the first trimester lacks the characteristics of a good screening tool for major congenital heart defects in a large unselected population.

From 1Columbia University Medical Center, New York, New York, 2Tufts University, Boston, Massachusetts, 3University of Utah, Salt Lake City, Utah, 4Swedish Medical Center, Seattle, Washington, 5William Beaumont Hospital, Royal Oak, Michigan, 6University of Texas Medical Branch, Galveston, Texas, 7Mount Sinai Medical Center, New York, New York, 8Albert Einstein College of Medicine, New York, New York, 9University of Colorado Health Sciences Center, Denver, Colorado, 10New York University, New York, New York, 11Brown University, Providence, Rhode Island, 12University of North Carolina Medical Center, Chapel Hill, North Carolina, and 13DM-STAT, Boston, Massachusetts

* For members of the FASTER Research Consortium, see the Appendix.

Funded by the National Institute of Child Health and Human Development, Supplemental Grant to Number RO1 HD 38652.

Presented at the 25th Annual Meeting of the Society for Maternal–Fetal Medicine, Reno, Nevada, February 7–12, 2005.

Corresponding author: Lynn L. Simpson, MD, Columbia University Medical Center, Department of Obstetrics and Gynecology, 622 West 168th Street, PH 16-66, New York, NY 10032; e-mail:

© 2007 by The American College of Obstetricians and Gynecologists. Published by Wolters Kluwer Health, Inc. All rights reserved.