Detection of Aneuploidy with Digital PCR

TL;DR

This paper demonstrates that digital PCR (dPCR) is a rapid, accurate, and versatile method for detecting common chromosomal aneuploidies like trisomy 21, applicable in high-risk pregnancy testing.

Contribution

It introduces the use of digital PCR for reliable detection of aneuploidies, overcoming limitations of previous methods and working effectively with mosaics and maternal DNA contamination.

Findings

dPCR accurately measures trisomy 21

Applicable to any aneuploidy regardless of allelic distribution

Effective in the presence of mosaics and maternal DNA

Abstract

The widespread use of genetic testing in high risk pregnancies has created strong interest in rapid and accurate molecular diagnostics for common chromosomal aneuploidies. We show here that digital polymerase chain reaction (dPCR) can be used for accurate measurement of trisomy 21 (Down's Syndrome), the most common human aneuploidy. dPCR is generally applicable to any aneuploidy, does not depend on allelic distribution or gender, and is able to detect signals in the presence of mosaics or contaminating maternal DNA.