Nuchal translucency and the risk of congenital heart disease.
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 10(3/7) to 13(6/7) 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.


CONCLUSIONS
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.


METHODS
II.
Simpson
Lynn L
LL
Department of Obstetrics and Gynecology, Columbia University Medical Center, 622 West 168th Street, New York, NY 10032, USA. ls731@columbia.edu
Malone
Fergal D
FD
Bianchi
Diana W
DW
Ball
Robert H
RH
Nyberg
David A
DA
Comstock
Christine H
CH
Saade
George
G
Eddleman
Keith
K
Gross
Susan J
SJ
Dugoff
Lorraine
L
Craigo
Sabrina D
SD
Timor-Tritsch
Ilan E
IE
Carr
Stephen R
SR
Wolfe
Honor M
HM
Tripp
Tara
T
D'Alton
Mary E
ME
D000328:Adult; D015331:Cohort Studies; D004171:Diploidy; D005260:Female; D005865:Gestational Age; D006330:Heart Defects, Congenital / Q000000981:diagnostic imaging* / Q000453:epidemiology* / Q000235:genetics; D006801:Humans; D015994:Incidence; D048208:Nuchal Translucency Measurement; D011237:Predictive Value of Tests; D011247:Pregnancy; D012189:Retrospective Studies; D018570:Risk Assessment