title: Down syndrome serum screening also identifies an increased risk for multicystic dysplastic kidney, two-vessel cord, and hydrocele.
abstract: 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.
authors.affiliation: Tufts Medical Center, Boston, MA 02111, USA.
authors.forename: Jodi D
authors.initials: JD
authors.lastname: Hoffman
authors.forename: Diana W
authors.initials: DW
authors.lastname: Bianchi
authors.forename: Lisa M
authors.initials: LM
authors.lastname: Sullivan
authors.forename: Brenda L
authors.initials: BL
authors.lastname: Mackinnon
authors.forename: Jamie
authors.initials: J
authors.lastname: Collins
authors.forename: Fergal D
authors.initials: FD
authors.lastname: Malone
authors.forename: T Flint
authors.initials: TF
authors.lastname: Porter
authors.forename: David A
authors.initials: DA
authors.lastname: Nyberg
authors.forename: Christine H
authors.initials: CH
authors.lastname: Comstock
authors.forename: Radek
authors.initials: R
authors.lastname: Bukowski
authors.forename: Richard L
authors.initials: RL
authors.lastname: Berkowitz
authors.forename: Susan J
authors.initials: SJ
authors.lastname: Gross
authors.forename: Lorraine
authors.initials: L
authors.lastname: Dugoff
authors.forename: Sabrina D
authors.initials: SD
authors.lastname: Craigo
authors.forename: Ilan E
authors.initials: IE
authors.lastname: Timor-Tritsch
authors.forename: Stephen R
authors.initials: SR
authors.lastname: Carr
authors.forename: Honor M
authors.initials: HM
authors.lastname: Wolfe
authors.forename: Mary E
authors.initials: ME
authors.lastname: D'Alton
mesh_terms: 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
chemical_list: D018997:Chorionic Gonadotropin, beta Subunit, Human; D000509:alpha-Fetoproteins; C422362:inhibin A; D007265:Inhibins; D011266:Pregnancy-Associated Plasma Protein-A; D004964:Estriol