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Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
Digital PCR for noninvasive detection of aneuploidy: power analysis equations for feasibility
Mark I Evans1, David A Wright, Eugene Pergament
1Prenatal Diagnosis, Comprehensive Genetics, Columbia University, New York, NY 10065, USA. Evans@compregen.com
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.
