One-step noninvasive prenatal testing (NIPT) for autosomal recessive homozygous point mutations using digital PCR.

ABSTRACT: Previously, we introduced a noninvasive prenatal testing (NIPT) protocol for diagnosing compound heterozygous autosomal recessive point mutations via maternal plasma DNA and simulated control genomic DNA sampling based on fetal DNA fraction. In our present study, we have improved our NIPT protocol to make it possible to diagnose homozygous autosomal recessive point mutations without the need to acquire fetal DNA fraction. Moreover, chi-squared test and empirical statistical range based on the proportion of mutant allele reads among the total reads served as the gatekeeping method. If this method yielded inconclusive results, then the Bayesian method was performed; final conclusion was drawn from the results of both methods. This protocol was applied to three families co-segregating congeni

SUBMITTER: Chang MY 

PROVIDER: S-EPMC5811538 | biostudies-literature | 2018 Feb

REPOSITORIES: biostudies-literature