Rebecca J Baer1, Mary E Norton2, Gary M Shaw3, Monica C Flessel4, Sara Goldman4, Robert J Currier4, Laura L Jelliffe-Pawlowski5. 1. Genetic Disease Screening Program, California Department of Public Health, Richmond, CA. Electronic address: Rebecca.Baer@cdph.ca.gov. 2. Division of Maternal-Fetal Medicine, Department of Obstetrics, Gynecology, and Reproductive Sciences, 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. 5. 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.
Abstract
OBJECTIVE: We sought to examine the association between increased first-trimester fetal nuchal translucency (NT) measurement and major noncardiac structural birth defects in euploid infants. STUDY DESIGN: Included were 75,899 singleton infants without aneuploidy or critical congenital heart defects born in California in 2009 through 2010 with NT measured between 11-14 weeks of gestation. Logistic binomial regression was employed to estimate relative risks (RRs) and 95% confidence intervals (CIs) for occurrence of birth defects in infants with an increased NT measurement (by percentile at crown-rump length [CRL] and by ≥3.5 mm compared to those with measurements <90th percentile for CRL). RESULTS: When considered by CRL adjusted percentile and by measurement ≥3.5 mm, infants with a NT ≥95th percentile were at risk of having ≥1 major structural birth defects (any defect, RR, 1.6; 95% CI, 1.3-1.9; multiple defects, RR, 2.1; 95% CI, 1.3-3.4). Infants with a NT measurement ≥95th percentile were at particularly high risk for pulmonary, gastrointestinal, genitourinary, and musculoskeletal anomalies (RR, 1.6-2.7; 95% CI, 1.1-5.4). CONCLUSION: Our findings demonstrate that risks of major pulmonary, gastrointestinal, genitourinary, and musculoskeletal structural birth defects exist for NT measurements ≥95th percentile. The ≥3-fold risks were observed for congenital hydrocephalus; agenesis, hypoplasia, and dysplasia of the lung; atresia and stenosis of the small intestine; osteodystrophies; and diaphragm anomalies.
OBJECTIVE: We sought to examine the association between increased first-trimester fetal nuchal translucency (NT) measurement and major noncardiac structural birth defects in euploid infants. STUDY DESIGN: Included were 75,899 singleton infants without aneuploidy or critical congenital heart defects born in California in 2009 through 2010 with NT measured between 11-14 weeks of gestation. Logistic binomial regression was employed to estimate relative risks (RRs) and 95% confidence intervals (CIs) for occurrence of birth defects in infants with an increased NT measurement (by percentile at crown-rump length [CRL] and by ≥3.5 mm compared to those with measurements <90th percentile for CRL). RESULTS: When considered by CRL adjusted percentile and by measurement ≥3.5 mm, infants with a NT ≥95th percentile were at risk of having ≥1 major structural birth defects (any defect, RR, 1.6; 95% CI, 1.3-1.9; multiple defects, RR, 2.1; 95% CI, 1.3-3.4). Infants with a NT measurement ≥95th percentile were at particularly high risk for pulmonary, gastrointestinal, genitourinary, and musculoskeletal anomalies (RR, 1.6-2.7; 95% CI, 1.1-5.4). CONCLUSION: Our findings demonstrate that risks of major pulmonary, gastrointestinal, genitourinary, and musculoskeletal structural birth defects exist for NT measurements ≥95th percentile. The ≥3-fold risks were observed for congenital hydrocephalus; agenesis, hypoplasia, and dysplasia of the lung; atresia and stenosis of the small intestine; osteodystrophies; and diaphragm anomalies.
Authors: Brittney M Snyder; Rebecca J Baer; Scott P Oltman; Jennifer G Robinson; Patrick J Breheny; Audrey F Saftlas; Wei Bao; Andrea L Greiner; Knute D Carter; Larry Rand; Laura L Jelliffe-Pawlowski; Kelli K Ryckman Journal: Diabetes Res Clin Pract Date: 2020-04-06 Impact factor: 5.602
Authors: M A Steurer; J Anderson; R J Baer; S Oltman; L S Franck; M Kuppermann; L Rand; K K Ryckman; J C Partridge; L L Jelliffe-Pawlowski; E E Rogers Journal: J Perinatol Date: 2017-02-16 Impact factor: 2.521
Authors: R J Baer; E E Rogers; J C Partridge; J G Anderson; M Morris; M Kuppermann; L S Franck; L Rand; L L Jelliffe-Pawlowski Journal: J Perinatol Date: 2016-07-28 Impact factor: 2.521
Authors: Teresa N Sparks; Billie R Lianoglou; Rebecca R Adami; Ilina D Pluym; Kerry Holliman; Jennifer Duffy; Sarah L Downum; Sachi Patel; Amanda Faubel; Nina M Boe; Nancy T Field; Aisling Murphy; Louise C Laurent; Jennifer Jolley; Cherry Uy; Anne M Slavotinek; Patrick Devine; Ugur Hodoglugil; Jessica Van Ziffle; Stephan J Sanders; Tippi C MacKenzie; Mary E Norton Journal: N Engl J Med Date: 2020-10-07 Impact factor: 91.245
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: Safyer McKenzie-Sampson; Rebecca J Baer; Bridgette E Blebu; Deborah Karasek; Scott P Oltman; Matthew S Pantell; Larry Rand; Elizabeth E Rogers; Jacqueline M Torres; Laura L Jelliffe-Pawlowski; Karen A Scott; Brittany D Chambers Journal: J Perinatol Date: 2021-07-19 Impact factor: 3.225
Authors: Albert M Isaacs; Jay Riva-Cambrin; Daniel Yavin; Aaron Hockley; Tamara M Pringsheim; Nathalie Jette; Brendan Cord Lethebe; Mark Lowerison; Jarred Dronyk; Mark G Hamilton Journal: PLoS One Date: 2018-10-01 Impact factor: 3.240