Article
Non-invasive prenatal diagnosis of single gene disorders with enhanced relative haplotype dosage analysis for diagnostic implementation.
PloS one - 1 Jan 2023
Pacault Mathilde, Verebi Camille, Champion Magali, Orhant Lucie, Perrier Alexandre, Girodon Emmanuelle, Leturcq France, Vidaud Dominique, Férec Claude, Bienvenu Thierry, Daveau Romain, Nectoux Juliette
Abstract excerpt
Non-invasive prenatal diagnosis of single-gene disorders (SGD-NIPD) has been widely accepted, but is mostly limited to the exclusion of either paternal or de novo mutations. Indeed, it is still difficult to infer the inheritance of the maternal allele from cell-free DNA (cfDNA) analysis. Based on the study of maternal haplotype imbalance in cfDNA, relative haplotype dosage (RHDO) was developed to address this...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.