Down syndrome serum screening also identifies an increased risk for multicystic dysplastic kidney, two‐vessel cord, and hydrocele

Abstract

Objective-The FASTER trial compared 1 st and 2 nd 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 and 95% confidence intervals (C.I.) were estimated.Results-Statistically significant (p < 0.05) associations were found between inhibin A ≥ 2 MoM and fetal multicystic dysplastic kidney (MCDK) (odds ratio (OR) =27.5, 95% C.I.:

Ancillary benefits of prenatal maternal serum screening achieved in the California program

“…Major fetal abnormalities associated with screen-positive status for SLOS have been previously reported (Craig et al, 2007) as well as increased risk of cardiac defects among fetuses of all screen-positive women (Jelliffe-Pawlowski et al, 2009). Significant associations between several maternal serum markers and an increased risk for multicystic dysplastic kidney, two-vessel cord and hydrocele were demonstrated in participants of the FASTER trial (Hoffman et al, 2008). An increased incidence of structural abnormalities was reported to be associated with elevated mid-trimester levels of hCG (Fejgin et al, 1997).…”

Adverse Pregnancy Outcomes After Abnormal First-Trimester Screening for Aneuploidy

“…A recent report from Hoffman et al101 links inhibin A ≥ 2.0 MOM with structural abnormalities including multicystic dysplastic kidney (MCDK) and two vessel umbilical cord. HCG ≥ 2.0 MOM was associated with MCDK and hydrocele, and PAPP-A ≥ 2.0 MOM was associated with hydrocele.…”

Are First Trimester Nuchal Septations Independent Risk Factors for Chromosomal Anomalies?

“…A firm body of evidence supports the association of increased nuchal translucency (NT) in the first trimester of pregnancy with chromosomal anomalies, genetic syndromes, congenital heart defects, and fetal structural anomalies, among other adverse pregnancy outcomes. [1][2][3][4][5][6][7][8][9][10][11][12] The term "cystic hygroma" in the first trimester of pregnancy refers to the simultaneous visualization of septations and increased NT. 13 However, there is no general consensus on how to precisely define cystic hygroma.…”