Nuchal translucency and the risk of congenital heart disease

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

Research output: Contribution to journalArticle

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Abstract

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 to 13 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.

Original languageEnglish (US)
Pages (from-to)376-383
Number of pages8
JournalObstetrics and Gynecology
Volume109
Issue number2 PART 1
DOIs
StatePublished - Feb 2007
Externally publishedYes

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Nuchal Translucency Measurement
Heart Diseases
Echocardiography
Ultrasonography
Incidence
Pregnancy
Aneuploidy
First Pregnancy Trimester
Fetus
Confidence Intervals
Sensitivity and Specificity

ASJC Scopus subject areas

  • Obstetrics and Gynecology

Cite this

Simpson, L. L., Malone, F. D., Bianchi, D. W., Ball, R. H., Nyberg, D. A., Comstock, C. H., ... D'Alton, M. E. (2007). Nuchal translucency and the risk of congenital heart disease. Obstetrics and Gynecology, 109(2 PART 1), 376-383. https://doi.org/10.1097/01.AOG.0000250473.99575.72

Nuchal translucency and the risk of congenital heart disease. / Simpson, Lynn L.; Malone, Fergal D.; Bianchi, Diana W.; Ball, Robert H.; Nyberg, David A.; Comstock, Christine H.; Saade, George; Eddleman, Keith; Gross, Susan J.; Dugoff, Lorraine; Craigo, Sabrina D.; Timor-Tritsch, Ilan E.; Carr, Stephen R.; Wolfe, Honor M.; Tripp, Tara; D'Alton, Mary E.

In: Obstetrics and Gynecology, Vol. 109, No. 2 PART 1, 02.2007, p. 376-383.

Research output: Contribution to journalArticle

Simpson, LL, Malone, FD, Bianchi, DW, Ball, RH, Nyberg, DA, Comstock, CH, Saade, G, Eddleman, K, Gross, SJ, Dugoff, L, Craigo, SD, Timor-Tritsch, IE, Carr, SR, Wolfe, HM, Tripp, T & D'Alton, ME 2007, 'Nuchal translucency and the risk of congenital heart disease', Obstetrics and Gynecology, vol. 109, no. 2 PART 1, pp. 376-383. https://doi.org/10.1097/01.AOG.0000250473.99575.72
Simpson LL, Malone FD, Bianchi DW, Ball RH, Nyberg DA, Comstock CH et al. Nuchal translucency and the risk of congenital heart disease. Obstetrics and Gynecology. 2007 Feb;109(2 PART 1):376-383. https://doi.org/10.1097/01.AOG.0000250473.99575.72
Simpson, Lynn L. ; Malone, Fergal D. ; Bianchi, Diana W. ; Ball, Robert H. ; Nyberg, David A. ; Comstock, Christine H. ; Saade, George ; Eddleman, Keith ; Gross, Susan J. ; Dugoff, Lorraine ; Craigo, Sabrina D. ; Timor-Tritsch, Ilan E. ; Carr, Stephen R. ; Wolfe, Honor M. ; Tripp, Tara ; D'Alton, Mary E. / Nuchal translucency and the risk of congenital heart disease. In: Obstetrics and Gynecology. 2007 ; Vol. 109, No. 2 PART 1. pp. 376-383.
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abstract = "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 to 13 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.",
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T1 - Nuchal translucency and the risk of congenital heart disease

AU - Simpson, Lynn L.

AU - Malone, Fergal D.

AU - Bianchi, Diana W.

AU - Ball, Robert H.

AU - Nyberg, David A.

AU - Comstock, Christine H.

AU - Saade, George

AU - Eddleman, Keith

AU - Gross, Susan J.

AU - Dugoff, Lorraine

AU - Craigo, Sabrina D.

AU - Timor-Tritsch, Ilan E.

AU - Carr, Stephen R.

AU - Wolfe, Honor M.

AU - Tripp, Tara

AU - D'Alton, Mary E.

PY - 2007/2

Y1 - 2007/2

N2 - 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 to 13 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.

AB - 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 to 13 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.

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