Article
Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach.
Prenatal diagnosis - 1 Jul 2015
Chitty Lyn S, Mason Sarah, Barrett Angela N, McKay Fiona, Lench Nicholas, Daley Rebecca, Jenkins Lucy A
Abstract excerpt
OBJECTIVE: Accurate prenatal diagnosis of genetic conditions can be challenging and usually requires invasive testing. Here, we demonstrate the potential of next-generation sequencing (NGS) for the analysis of cell-free DNA in maternal blood to transform prenatal diagnosis of monogenic disorders. METHODS: Analysis of cell-free DNA using a PCR and restriction enzyme digest (PCR-RED) was compared with a novel NGS...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.