Down syndrome serum screening also identifies an increased risk for multicystic dysplastic kidney, two-vessel cord, and hydrocele.
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 > or = 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 > or = 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 > or = 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 > or = 2.0 MoM with hydrocele (OR = 1.88, 95% CI:1.1-3.3).


CONCLUSIONS
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.
Hoffman
Jodi D
JD
Tufts Medical Center, Boston, MA 02111, USA.
Bianchi
Diana W
DW
Sullivan
Lisa M
LM
Mackinnon
Brenda L
BL
Collins
Jamie
J
Malone
Fergal D
FD
Porter
T Flint
TF
Nyberg
David A
DA
Comstock
Christine H
CH
Bukowski
Radek
R
Berkowitz
Richard L
RL
Gross
Susan J
SJ
Dugoff
Lorraine
L
Craigo
Sabrina D
SD
Timor-Tritsch
Ilan E
IE
Carr
Stephen R
SR
Wolfe
Honor M
HM
D'Alton
Mary E
ME
D000328:Adult; D016022:Case-Control Studies; D018997:Chorionic Gonadotropin, beta Subunit, Human / Q000097:blood; D015331:Cohort Studies; D004314:Down Syndrome / Q000097:blood / Q000175:diagnosis*; D004964:Estriol / Q000097:blood; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007265:Inhibins / Q000097:blood; D008297:Male; D021782:Multicystic Dysplastic Kidney / Q000097:blood / Q000175:diagnosis*; D048208:Nuchal Translucency Measurement; D011247:Pregnancy; D011266:Pregnancy-Associated Plasma Protein-A / Q000378:metabolism; D011296:Prenatal Diagnosis / Q000379:methods*; D011446:Prospective Studies; D006848:Testicular Hydrocele / Q000097:blood / Q000175:diagnosis*; D000509:alpha-Fetoproteins / Q000378:metabolism
D018997:Chorionic Gonadotropin, beta Subunit, Human; D000509:alpha-Fetoproteins; C422362:inhibin A; D007265:Inhibins; D011266:Pregnancy-Associated Plasma Protein-A; D004964:Estriol