Risk of critical congenital heart defects by nuchal translucency norms

Laura L. Jelliffe-Pawlowski, Mary E. Norton, Gary M. Shaw, Rebecca J. Baer, Monica C. Flessel, Sara Goldman, Robert J. Currier

Research output: Contribution to journalArticlepeer-review

Abstract

Objective The purpose of this study was to compare the performance of first-trimester nuchal translucency (NT) cutoff of ≥3.5 mm with NT percentiles that were calculated for crown-rump length to identify fetuses with critical congenital heart defects (CCHDs). Study Design This was a population-level study of singleton pregnancies in California with NT measurements performed between 11 and 14 weeks of gestation. Eligible cases were those that resulted in live births from 2009-2010 and had information about the presence or absence of CCHDs available in the hospital discharge records through age 1 year (n = 76,089). Logistic binomial regression methods were used to compare the rate of CCHDs by an NT percentile for crown-rump length and millimeter cutpoints. Results Compared with fetuses with an NT measurement of <90th percentile, fetuses with an NT of ≥99th percentile were >5 times as likely to have a CCHD (1.3% vs 0.2%; relative risk, 5.66; 95% confidence interval, 3.19-10.04) and fetuses with an NT measurement ≥3.5 mm were >12 times as likely to have a CCHD (2.8% vs 0.2%; relative risk, 12.28; 95% confidence interval, 5.11-29.51). NT ≥99th percentile had a sensitivity of 5.8% and a specificity of 98.9% for the detection of CCHDs compared with 2.6% and 99.8% for NT ≥3.5 mm. Conclusion Results show that NT measurements of ≥99th percentile and ≥3.5 mm are not equivalent and that substantial risk for CCHD extends to the less restrictive ≥99th percentile cutpoint. Data suggest that the use of this cutpoint compared with the current standard could double the number of CCHDs that are identified based on NT risk.

Original languageEnglish (US)
Pages (from-to)518.e1-518.e10
JournalAmerican Journal of Obstetrics and Gynecology
Volume212
Issue number4
DOIs
StatePublished - Apr 1 2015

Keywords

  • critical congenital heart defect
  • nuchal translucency
  • prenatal screening

ASJC Scopus subject areas

  • Obstetrics and Gynecology

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