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Vol. 31, No. 4, 2012
Issue release date: June 2012
Section title: Original Paper
Fetal Diagn Ther 2012;31:244–247
(DOI:10.1159/000337544)

Digital PCR for Noninvasive Detection of Aneuploidy: Power Analysis Equations for Feasibility

Evans M.I.a · Wright D.A.d · Pergament E.c · Cuckle H.S.b · Nicolaides K.H.e
aPrenatal Diagnosis, Comprehensive Genetics, bObstetrics and Gynecology, Columbia University, New York, N.Y., cGenetics, Northwestern Reproductive Genetics, Chicago, Ill., USA; dMathematics, University of Plymouth, Plymouth, and eFetal Medicine, Fetal Medicine Foundation, London, UK

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Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: 1/23/2012 1:28:44 PM
Accepted: 2/14/2012
Published online: 4/25/2012
Issue release date: June 2012

Number of Print Pages: 4
Number of Figures: 1
Number of Tables: 2

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

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

Abstract

Objective: To determine the feasibility of digital PCR analysis for noninvasive prenatal diagnosis of trisomy 21. Methods: Through power equations, we modeled the number of wells necessary to determine the feasibility of digital PCR as a practical method for trisomy 21 risk assessment. Results: The number of wells needed is a direct correlate of the ability to isolate free fetal DNA. If a 20% fetal DNA enhancement can be achieved, then 2,609 counts would be sufficient to achieve a 99% detection rate for a 1% false-positive rate and potentially feasible with readily available plates. However, if only a 2% increase is seen, then 220,816 counts will be necessary, and over 110,000 would be needed just to achieve 95% for a 5% false-positive rate – both far beyond current commercially available technology. Conclusion: There are several noninvasive prenatal diagnostic methods which may reach commercialization; all have differing potential advantages and disadvantages. Digital PCR is potentially a cheaper methodology for trisomy 21, but it is too early to determine the optimal method.

© 2012 S. Karger AG, Basel


  

Author Contacts

Mark I. Evans, MD
Comprehensive Genetics
131 E. 65th St.
New York, NY 10065 (USA)
Tel. +1 212 288 1422, E-Mail Evans@compregen.com

  

Article Information

Received: January 23, 2012
Accepted after revision: February 14, 2012
Published online: April 25, 2012
Number of Print Pages : 4
Number of Figures : 1, Number of Tables : 2, Number of References : 14

  

Publication Details

Fetal Diagnosis and Therapy (Clinical Advances and Basic Research)

Vol. 31, No. 4, Year 2012 (Cover Date: June 2012)

Journal Editor: Gratacós E. (Barcelona)
ISSN: 1015-3837 (Print), eISSN: 1421-9964 (Online)

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


Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: 1/23/2012 1:28:44 PM
Accepted: 2/14/2012
Published online: 4/25/2012
Issue release date: June 2012

Number of Print Pages: 4
Number of Figures: 1
Number of Tables: 2

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

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


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