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Table of Contents
Vol. 31, No. 2, 2012
Issue release date: March 2012
Section title: Review
Free Access
Fetal Diagn Ther 2012;31:81–86

Diagnostic Accuracy of Noninvasive Detection of Fetal Trisomy 21 in Maternal Blood: A Systematic Review

Verweij E.J.a · van den Oever J.M.E.b · de Boer M.A.a · Boon E.M.J.b · Oepkes D.a
aDepartment of Obstetrics and bCenter for Human and Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands
email Corresponding Author

Dick Oepkes

Department of Obstetrics, Leiden University Medical Centre

PO Box 9600

NL–2300 RC Leiden (The Netherlands)

Tel. +31 71 526 2896, E-Mail d.oepkes@lumc.nl

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Background: Both pregnant women and providers of obstetric care are aware of the rapid advances in noninvasive prenatal diagnosis (NIPD) of fetal trisomies, and appear to look forward to its clinical introduction. Objectives: To review and critically assess the published literature on diagnostic accuracy of NIPD using cell-free fetal DNA or RNA in maternal blood to detect fetal trisomy 21. Method: An electronic search was performed in MEDLINE, EMBASE and the Cochrane library (1997 to April 2011). Of a total of 201 citations, 9 studies were eligible for full-text analysis by 2 independent reviewers, using the QUADAS tool. Results: Two of the 9 analyzed studies complied with the criteria of the QUADAS tool. Combining the selected 2 studies, with a total of 681 pregnancies included, overall sensitivity was 125/125 (100%, 95% CI 97.5–100%) and specificity 552/556 (99.3%, 95% CI 98.7–99.3%). Conclusions: NIPD of fetal trisomy 21, using fetal nucleic acids in maternal plasma, appears to have a high diagnostic accuracy. Large-scale prospective studies are awaited before implementation in clinical practice.

© 2011 S. Karger AG, Basel

Article / Publication Details

First-Page Preview
Abstract of Review

Received: July 19, 2011
Accepted: September 12, 2011
Published online: November 17, 2011
Issue release date: March 2012

Number of Print Pages: 6
Number of Figures: 2
Number of Tables: 2

ISSN: 1015-3837 (Print)
eISSN: 1421-9964 (Online)

For additional information: http://www.karger.com/FDT

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