Noninvasive paternal exclusion testing for cystic fibrosis in the first five to eight weeks of gestation.

ABSTRACT: Prenatal genetic testing is not generally applicable to the very early stages of pregnancy (prior to week 8 gestation), a time period that is crucial to pregnant couples with high risk for transmission of genetic disease to their fetus. Therefore, we developed a new ultra-sensitive targeted next generation sequencing method for noninvasive haplotype-based paternal allele exclusion testing of the cystic fibrosis-associated gene, CFTR. This new method was compared to a conventional library prep and sequencing analysis method and all test results were validated by amniotic fluid testing at later stages of pregnancy. Out of 7 enrolled couples, who provided at least two blood samples (at least one week apart) for noninvasive CFTR testing, a result was obtained for 6 fetuses. Using the new hyper

SUBMITTER: Zeevi DA 

PROVIDER: S-EPMC6205998 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature