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Down syndrome serum screening also identifies an increased risk for multicystic dysplastic kidney, two‐vessel cord, and hydrocele
Author(s) -
Hoffman Jodi D.,
Bianchi Diana W.,
Sullivan Lisa M.,
Mackin Brenda L.,
Collins Jamie,
Malone Fergal D.,
Porter T. Flint,
Nyberg David A.,
Comstock Christine H.,
Bukowski Radek,
Berkowitz Richard L.,
Gross Susan J.,
Dugoff Lorraine,
Craigo Sabrina D.,
TimorTritsch Ilan E.,
Carr Stephen R.,
Wolfe Honor M.,
D'Alton Mary E.
Publication year - 2008
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.2082
Subject(s) - medicine , hydrocele , confidence interval , odds ratio , multicystic dysplastic kidney , obstetrics , aneuploidy , nomogram , gestational age , gynecology , pregnancy , fetus , prospective cohort study , advanced maternal age , kidney , surgery , biology , biochemistry , genetics , chromosome , gene
Objective The FASTER trial compared first and second trimester screening methods for aneuploidy. We examined relationships between maternal serum markers and common congenital anomalies in the pediatric outcome data set of 36 837 subjects. Methods We used nested case–control studies, with cases defined by the most common anomalies in our follow‐up database, and up to four controls matched by enrollment site, maternal age and race, enrollment gestational age, and infant gender. Serum markers were dichotomized to ≥ 2 or < 0.5 multiples of the median (MoM). Odds ratios (ORs) and 95% confidence intervals (CI) were estimated. Results Statistically significant ( p < 0.05) associations were found between inhibin A ≥ 2 MoM with fetal multicystic dysplastic kidney (MCDK) (OR = 27.5, 95% CI: 2.8–267.7) and two‐vessel cord (OR = 4.22, 95% CI:1.6–10.9); hCG of ≥ 2 MoM with MCDK (OR = 19.56, 95% CI: 1.9–196.2) and hydrocele (OR = 2.48, 95% CI: 1.3–4.6); and PAPP‐A ≥ 2.0 MoM with hydrocele (OR = 1.88, 95% CI:1.1–3.3). Conclusion In this large prospective study, significant associations were found between several maternal serum markers and congenital anomalies. This suggests potential additional benefits to screening programs that are primarily designed to detect aneuploidy. Copyright © 2008 John Wiley & Sons, Ltd.