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Critical congenital heart defects and abnormal levels of routinely collected first‐ and second‐trimester biomarkers
Author(s) -
Borelli Melissa,
Baer Rebecca J.,
Chambers Christina D.,
Smith Tyler C.,
JelliffePawlowski Laura L.
Publication year - 2017
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.38013
Subject(s) - medicine , confidence interval , obstetrics , pregnancy , poisson regression , relative risk , risk factor , pediatrics , population , genetics , environmental health , biology
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.