Evaluation of droplet digital PCR for non-invasive prenatal diagnosis of phenylketonuria.

In conclusion, this study is the first to establish non-invasive prenatal diagnosis of PKU based on ddPCR. The method showed high sensitivity and specificity from cfDNA, indicating that ddPCR is a reliable non-invasive prenatal diagnosis tool for PKU diagnosis. Graphical abstract.
PMID: 31485704 [PubMed - as supplied by publisher]

Source: Analytical and Bioanalytical Chemistry - September 3, 2019 Category: Chemistry Authors: Yan Y, Wang F, Zhang C, Jin X, Zhang Q, Feng X, Hao S, Gao H, Ma X Tags: Anal Bioanal Chem Source Type: research