Ontology highlight
ABSTRACT:
SUBMITTER: Vermeulen C
PROVIDER: S-EPMC5590845 | biostudies-literature | 2017 Sep
REPOSITORIES: biostudies-literature
Vermeulen Carlo C Geeven Geert G de Wit Elzo E Verstegen Marjon J A M MJAM Jansen Rumo P M RPM van Kranenburg Melissa M de Bruijn Ewart E Pulit Sara L SL Kruisselbrink Evelien E Shahsavari Zahra Z Omrani Davood D Zeinali Fatemeh F Najmabadi Hossein H Katsila Theodora T Vrettou Christina C Patrinos George P GP Traeger-Synodinos Joanne J Splinter Erik E Beekman Jeffrey M JM Kheradmand Kia Sima S Te Meerman Gerard J GJ Ploos van Amstel Hans Kristian HK de Laat Wouter W
American journal of human genetics 20170824 3
During pregnancy, cell-free DNA (cfDNA) in maternal blood encompasses a small percentage of cell-free fetal DNA (cffDNA), an easily accessible source for determination of fetal disease status in risk families through non-invasive procedures. In case of monogenic heritable disease, background maternal cfDNA prohibits direct observation of the maternally inherited allele. Non-invasive prenatal diagnostics (NIPD) of monogenic diseases therefore relies on parental haplotyping and statistical assessm ...[more]