Document Detail

Evaluation of cell-free fetal DNA as a second-trimester maternal serum marker of Down syndrome pregnancy.
MedLine Citation:
PMID:  12560345     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: Second-trimester cell-free fetal DNA (studied only in pregnancies with male fetuses) is higher in maternal serum samples from women carrying Down syndrome fetuses than in unaffected pregnancies. In this study we evaluated the potential performance of fetal DNA as a screening marker for Down syndrome. METHODS: Data on maternal serum fetal DNA concentrations and the corresponding concentrations of the quadruple serum markers were available from 15 Down syndrome cases, each matched for gestational age and length of freezer storage, with 5 control samples. Analyte values were expressed as multiple(s) of the control or population median. Screening performance of fetal DNA, both alone and when added to estimates of quadruple marker performance, was determined after modeling using univariate and multivariate gaussian distribution analysis. RESULTS: The median fetal DNA concentration in Down syndrome cases was 1.7 times higher than in controls. In univariate analysis, fetal DNA gave a 21% detection rate at a 5% false-positive rate. When added to quadruple marker screening, fetal DNA increased the estimated detection rate from 81% to 86% at a 5% false-positive rate. CONCLUSIONS: Cell-free fetal DNA, measured in maternal serum, can modestly increase screening performance above what is currently available in the second trimester. If and when maternal serum fetal DNA can be measured in pregnancies with both male and female fetuses, the utility and cost-effectiveness of adding it as a Down syndrome screening marker should be assessed.
Antonio Farina; Erik S LeShane; Geralyn M Lambert-Messerlian; Jacob A Canick; Thomas Lee; Louis M Neveux; Glenn E Palomaki; Diana W Bianchi
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Clinical chemistry     Volume:  49     ISSN:  0009-9147     ISO Abbreviation:  Clin. Chem.     Publication Date:  2003 Feb 
Date Detail:
Created Date:  2003-01-31     Completed Date:  2003-02-27     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  9421549     Medline TA:  Clin Chem     Country:  United States    
Other Details:
Languages:  eng     Pagination:  239-42     Citation Subset:  IM    
Department of Obstetrics and Gynecology, University of Bologna, Bologna, Italy 40138.
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MeSH Terms
Biological Markers / analysis
DNA / blood*
Down Syndrome / blood,  diagnosis*
Maternal-Fetal Exchange
Pregnancy Trimester, Second
Prenatal Diagnosis / methods*
Grant Support
Reg. No./Substance:
0/Biological Markers; 9007-49-2/DNA

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