Literature DB >> 19034930

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

Jodi D Hoffman1, Diana W Bianchi, Lisa M Sullivan, Brenda L Mackinnon, Jamie Collins, Fergal D Malone, T Flint Porter, David A Nyberg, Christine H Comstock, Radek Bukowski, Richard L Berkowitz, Susan J Gross, Lorraine Dugoff, Sabrina D Craigo, Ilan E Timor-Tritsch, Stephen R Carr, Honor M Wolfe, Mary E D'Alton.   

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).
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.

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Year:  2008        PMID: 19034930      PMCID: PMC2610242          DOI: 10.1002/pd.2082

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN: 0197-3851            Impact factor:   3.050


  11 in total

Review 1.  Levels of unconjugated estriol and other maternal serum markers in pregnancies with Smith-Lemli-Opitz (RSH) syndrome fetuses.

Authors:  L A Bradley; G E Palomaki; G J Knight; J E Haddow; J M Opitz; M Irons; R I Kelley; G S Tint
Journal:  Am J Med Genet       Date:  1999-02-12

2.  Maternal serum screening and 22q11.2 deletion syndrome.

Authors:  Michael L Begleiter; Molly M Lund; Andrea M Atherton; Janda D Buchholz; Holly H Ardinger
Journal:  Am J Med Genet A       Date:  2007-02-15       Impact factor: 2.802

3.  Second-trimester pregnancy associated plasma protein-A levels are reduced in Cornelia de Lange syndrome pregnancies.

Authors:  D A Aitken; M Ireland; E Berry; J A Crossley; J N Macri; J Burn; J M Connor
Journal:  Prenat Diagn       Date:  1999-08       Impact factor: 3.050

4.  Maternal serum marker levels in two pregnancies affected with Smith-Lemli-Opitz syndrome.

Authors:  J A Canick; D N Abuelo; L A Bradley; G S Tint
Journal:  Prenat Diagn       Date:  1997-02       Impact factor: 3.050

5.  Identifying Smith-Lemli-Opitz syndrome in conjunction with prenatal screening for Down syndrome.

Authors:  Wendy Y Craig; James E Haddow; Glenn E Palomaki; Richard I Kelley; Lisa E Kratz; Cedric H L Shackleton; Josep Marcos; G Stephen Tint; Andrew R MacRae; Malgorzata J Nowaczyk; Edward M Kloza; Mira B Irons; Marie Roberson
Journal:  Prenat Diagn       Date:  2006-09       Impact factor: 3.050

6.  First-trimester or second-trimester screening, or both, for Down's syndrome.

Authors:  Fergal D Malone; Jacob A Canick; Robert H Ball; David A Nyberg; Christine H Comstock; Radek Bukowski; Richard L Berkowitz; Susan J Gross; Lorraine Dugoff; Sabrina D Craigo; Ilan E Timor-Tritsch; Stephen R Carr; Honor M Wolfe; Kimberly Dukes; Diana W Bianchi; Alicja R Rudnicka; Allan K Hackshaw; Geralyn Lambert-Messerlian; Nicholas J Wald; Mary E D'Alton
Journal:  N Engl J Med       Date:  2005-11-10       Impact factor: 91.245

7.  First-trimester septated cystic hygroma: prevalence, natural history, and pediatric outcome.

Authors:  Fergal D Malone; Robert H Ball; David A Nyberg; Christine H Comstock; George R Saade; Richard L Berkowitz; Susan J Gross; Lorraine Dugoff; Sabrina D Craigo; Ilan E Timor-Tritsch; Stephen R Carr; Honor M Wolfe; Kimberly Dukes; Jacob A Canick; Diana W Bianchi; Mary E D'Alton
Journal:  Obstet Gynecol       Date:  2005-08       Impact factor: 7.661

8.  Quad screen as a predictor of adverse pregnancy outcome.

Authors:  Lorraine Dugoff; John C Hobbins; Fergal D Malone; John Vidaver; Lisa Sullivan; Jacob A Canick; Geralyn M Lambert-Messerlian; T Flint Porter; David A Luthy; Christine H Comstock; George Saade; Keith Eddleman; Irwin R Merkatz; Sabrina D Craigo; Ilan E Timor-Tritsch; Stephen R Carr; Honor M Wolfe; Mary E D'Alton
Journal:  Obstet Gynecol       Date:  2005-08       Impact factor: 7.661

9.  Assigning risk for Smith-Lemli-Opitz syndrome as part of 2nd trimester screening for Down's syndrome.

Authors:  G E Palomaki; L A Bradley; G J Knight; W Y Craig; J E Haddow
Journal:  J Med Screen       Date:  2002       Impact factor: 2.136

10.  Fetal Smith-Lemli-Opitz syndrome can be detected accurately and reliably by measuring amniotic fluid dehydrocholesterols.

Authors:  G S Tint; D Abuelo; M Till; M P Cordier; A K Batta; S Shefer; A Honda; M Honda; G Xu; M Irons; E R Elias; G Salen
Journal:  Prenat Diagn       Date:  1998-07       Impact factor: 3.050

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  1 in total

Review 1.  Adverse pregnancy outcomes after abnormal first-trimester screening for aneuploidy.

Authors:  Laura Goetzl
Journal:  Clin Lab Med       Date:  2010-09       Impact factor: 1.935

  1 in total

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