Could Digital PCR Be an Alternative as a Non-Invasive Prenatal Test for Trisomy 21: A Proof of Concept Study.

ABSTRACT:

Objective

NIPT for fetal aneuploidy by digital PCR has been hampered by the large number of PCR reactions needed to meet statistical requirements, preventing clinical application. Here, we designed an octoplex droplet digital PCR (ddPCR) assay which allows increasing the number of available targets and thus overcomes statistical obstacles.

Method

After technical optimization of the multiplex PCR on mixtures of trisomic and euploid DNA, we performed a validation study on samples of plasma DNA from 213 pregnant women. Molecular counting of circulating cell-free DNA was performed using a mix of hydrolysis probes targeting chromosome 21 and a reference chromosome.

Results

The results of our validation experiments showed that ddPCR detected trisomy 21 even when the sample'

SUBMITTER: El Khattabi LA 

PROVIDER: S-EPMC4864235 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature