Document Detail


Screening for Down's syndrome in early and late first and second trimester using six maternal serum markers.
MedLine Citation:
PMID:  15032969     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The efficiency of six maternal serum markers for Down's syndrome (DS), alpha fetoprotein (AFP), human chorionic gonadotropin (hCG), free beta-hCG, pregnancy-associated plasma protein-A (PAPP-A), the proform of eosinophil major basic protein (ProMBP), pregnancy-specific-beta-1-glycoprotein (SP(1)), and combinations thereof, was examined. Discriminant analysis in 156 DS pregnancies and 546 controls defined three effective combinations of serum marker logMoMs (multiples of the median in control samples) in three gestational age windows, i.e. Index I (weeks 7-9) = 0.52 logMoM ProMBP + 0.28 logMoM PAPP-A - logMoM SP(1); Index II (weeks 10-12) = 1.94 logMoM free beta-hCG - logMoM SP(1), and Index III (weeks 15-19) = 0.78 logMoM free beta-hCG + 1.12 logMoM ProMBP - logMoM AFP. The estimated detection rates of indices and age for a false-positive rate (FPR) of 5% were 73% for Index I, 69% for Index II, and 60% for Index III. Including the ultrasound marker nuchal translucency, using a DS at term risk of 1 : 400 as cut-off, the detection rates of the indices increased to 86, 83, and 82% for FPRs of 4.3, 4.1, and 5.8%, respectively. The indices are promising markers for screening for DS.
Authors:
M Christiansen; S O Larsen; C Oxvig; Q-P Qin; J M Wagner; M T Overgaard; G J Gleich; L Sottrup-Jensen; B Nørgaard-Pedersen
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Publication Detail:
Type:  Evaluation Studies; Journal Article    
Journal Detail:
Title:  Clinical genetics     Volume:  65     ISSN:  0009-9163     ISO Abbreviation:  Clin. Genet.     Publication Date:  2004 Jan 
Date Detail:
Created Date:  2004-03-22     Completed Date:  2004-08-31     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  Denmark    
Other Details:
Languages:  eng     Pagination:  11-6     Citation Subset:  IM    
Affiliation:
Department of Clinical Biochemistry, Statens Serum Institut, Copenhagen, Denmark. mic@ssi.dk
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MeSH Terms
Descriptor/Qualifier:
Adult
Age Factors
Biological Markers / blood*
Down Syndrome / diagnosis*,  genetics*
False Positive Reactions
Female
Genetic Testing*
Humans
Karyotyping
Pregnancy
Pregnancy Trimester, First
Pregnancy Trimester, Second
Prenatal Diagnosis*
Sensitivity and Specificity
Chemical
Reg. No./Substance:
0/Biological Markers

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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