Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutations.

ABSTRACT:

Background

Noninvasive prenatal testing can be used to accurately detect chromosomal aneuploidies in circulating fetal DNA; however, the necessity of parental haplotype construction is a primary drawback to noninvasive prenatal diagnosis (NIPD) of monogenic disease. Family-specific haplotype assembly is essential for accurate diagnosis of minuscule amounts of circulating cell-free fetal DNA; however, current haplotyping techniques are too time-consuming and laborious to be carried out within the limited time constraints of prenatal testing, hampering practical application of NIPD in the clinic. Here, we have addressed this pitfall and devised a universal strategy for rapid NIPD of a prevalent mutation in the Ashkenazi Jewish (AJ) population.

Methods

Pregnant AJ couples, carr

SUBMITTER: Zeevi DA 

PROVIDER: S-EPMC4607112 | biostudies-literature | 2015 Oct

REPOSITORIES: biostudies-literature