title: Critical congenital heart defects and abnormal levels of routinely collected first- and second-trimester biomarkers.
abstract: We examined the association between maternal characteristics, routinely collected first- and second-trimester biomarkers and the risk of having an infant with a critical congenital heart defect (CCHD). Included were women who participated in the California Prenatal Screening Program who had nuchal translucency (NT) measurement and first- and second-trimester serum screening. All pregnancies ended in a live birth of an infant without aneuploidy or a neural tube defect. Poisson regression analyses were used to estimate the relative risk and 95% confidence interval of a CCHD by maternal characteristics, first- and second-trimester serum biomarkers or NT measurements. The sample included 118,194 mother-infant pairs; 284 infants had a CCHD. Women with preexisting diabetes were three-times as likely to have an infant with a CCHD. After adjusting for preexisting diabetes, women with first-trimester human chorionic gonatotropin (hCG) measurement <10th centile were 1.6-times as likely to have an infant with a CCHD (P = 0.011). Women with a NT measurement ≥95th centile were at two- to threefold higher risk of having an infant with a CCHD (P's = 0.004-0.007). Pregnancies with two risk factors for an infant with a CCHD were 5.6-times more likely to have an infant with a CCHD than women with no identified risk factors (P < 0.001). Despite the increased risk, performance testing demonstrated low sensitivity and specificity for screening use of these risk factors. Of the women with an infant with a CCHD, only 21.8% had an identified risk factor. © 2016 Wiley Periodicals, Inc.
authors.affiliation: Department of Community Health, School of Health and Human Services, National University, San Diego, California.
authors.forename: Melissa
authors.initials: M
authors.lastname: Borelli
authors.affiliation: Department of Pediatrics, University of California San Diego, La Jolla, California.
authors.forename: Rebecca J
authors.initials: RJ
authors.lastname: Baer
authors.affiliation: Department of Pediatrics, University of California San Diego, La Jolla, California.
authors.forename: Christina D
authors.initials: CD
authors.lastname: Chambers
authors.affiliation: Department of Community Health, School of Health and Human Services, National University, San Diego, California.
authors.forename: Tyler C
authors.initials: TC
authors.lastname: Smith
authors.affiliation: Department of Epidemiology and Biostatistics, University of California, San Francisco, San Francisco, California.
authors.forename: Laura L
authors.initials: LL
authors.lastname: Jelliffe-Pawlowski
mesh_terms: D000293:Adolescent; D000328:Adult; D015415:Biomarkers; D002140:California / Q000453:epidemiology; D005260:Female; D006330:Heart Defects, Congenital / Q000097:blood* / Q000175:diagnosis* / Q000453:epidemiology; D006801:Humans; D008297:Male; D016017:Odds Ratio; D011247:Pregnancy; D011261:Pregnancy Trimester, First / Q000097:blood*; D011262:Pregnancy Trimester, Second / Q000097:blood*; D011296:Prenatal Diagnosis; D012306:Risk; D012680:Sensitivity and Specificity; D012720:Severity of Illness Index; D055815:Young Adult
chemical_list: D015415:Biomarkers
keywords: congenital heart defect; critical congenital heart defect; first-trimester; human chorionic gonadotropin; nuchal translucency; prenatal detection; prenatal screening; risk factor