Accurate and robust quantification of circulating fetal and total DNA in maternal plasma from 5 to 41 weeks of gestation

Birch, Lyndsey, English, Claire A., O’Donoghue, Keelin, Barigye, Olivia, Fisk, Nicholas M. and Keer, Jacquie T. (2005) Accurate and robust quantification of circulating fetal and total DNA in maternal plasma from 5 to 41 weeks of gestation. Clinical Chemistry, 51 2: 312-320.


Author Birch, Lyndsey
English, Claire A.
O’Donoghue, Keelin
Barigye, Olivia
Fisk, Nicholas M.
Keer, Jacquie T.
Title Accurate and robust quantification of circulating fetal and total DNA in maternal plasma from 5 to 41 weeks of gestation
Journal name Clinical Chemistry  (ERA 2012 Listed)    (ERA 2010 Rank A)   Check publisher's open access policy
Publication date 2005-02
Sub-type Article
Year available 2004
DOI 10.1373/clinchem.2004.042713
Volume number 51
Issue number 2
ISSN 0009-9147; 1530-8561
Start page 312
End page 320
Total pages 9
Place of publication Washington, D.C., U.S.A.
Publisher American Association for Clinical Chemistry
Language eng
Subject 111401 Foetal Development and Medicine
111402 Obstetrics and Gynaecology
1114 Paediatrics and Reproductive Medicine
Formatted abstract Background: Detection of fetal DNA in maternal plasma is achievable at 5 weeks of gestation, but few large-scale studies have reported circulating fetal and maternal DNA across all trimesters.
Methods: Blood samples were collected from 201 women between 5 and 41 weeks of pregnancy. Quantitative PCR was used to assess total and fetal DNA concentrations, and allelic discrimination analysis was investigated as a route to detecting specifically fetal DNA.
Results: Male fetuses were detectable from 5 weeks amenorrhea with increasing fetal DNA concentrations across gestation. The sensitivity of fetal male gender determination in pregnancies with live birth confirmation was 99%, with 100% specificity. Total DNA concentrations did not correlate with gestational age, but appeared slightly higher in the first and third trimesters than in mid-pregnancy. Analysis of short tandem repeats demonstrated that significant improvements in the detection limit are required for specific detection of fetal DNA.
Conclusions: The high sensitivity of PCR-based detection, together with quantification provided by real-time DNA analysis, has clear potential for clinical application in noninvasive prenatal diagnosis. However, accurate quantification using best-fit data analysis, standardization of methods, and performance control indicators are necessary for robust routine noninvasive diagnostics.
© 2005 American Association for Clinical Chemistry, Inc.
Keyword Fetal DNA
Maternal plasma
Quantitative PCR
Allelic discrimination analysis
Q-Index Code C1
Additional Notes First published December 17, 2004 at DOI: 10.1373/clinchem.2004.042713

Document type: Journal Article
Sub-type: Article
Collections: Excellence in Research Australia (ERA) - Collection
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