Laura L Jelliffe-Pawlowski1, Mary E Norton2, Gary M Shaw3, Rebecca J Baer4, Monica C Flessel4, Sara Goldman4, Robert J Currier4. 1. Genetic Disease Screening Program, California Department of Public Health, Richmond, CA; Department of Epidemiology and Biostatistics, University of California, San Francisco, School of Medicine, San Francisco, CA. Electronic address: laura.jelliffe@cdph.ca.gov. 2. Department of Obstetrics and Gynecology, University of California, San Francisco, School of Medicine, San Francisco, CA. 3. Department of Pediatrics, Stanford University School of Medicine, Stanford, CA. 4. Genetic Disease Screening Program, California Department of Public Health, Richmond, CA.
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.
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.
Authors: Victoria K Berger; Mary E Norton; Teresa N Sparks; Monica Flessel; Rebecca J Baer; Robert J Currier Journal: Prenat Diagn Date: 2019-12-02 Impact factor: 3.050
Authors: Martina A Steurer; Rebecca J Baer; Edmund Burke; Shabnam Peyvandi; Scott Oltman; Christina D Chambers; Mary E Norton; Larry Rand; Satish Rajagopal; Kelli K Ryckman; Sky K Feuer; Liang Liang; Randi A Paynter; Molly McCarthy; Anita J Moon-Grady; Roberta L Keller; Laura L Jelliffe-Pawlowski Journal: J Am Heart Assoc Date: 2018-09-04 Impact factor: 5.501