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Original Paper

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

Author affiliations

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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Fetal Diagn Ther 2012;31:244–247

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Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: January 23, 2012
Accepted: February 14, 2012
Published online: April 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: https://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


References

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    External Resources
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Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: January 23, 2012
Accepted: February 14, 2012
Published online: April 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: https://www.karger.com/FDT


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