Article
Sensitive Monogenic Noninvasive Prenatal Diagnosis by Targeted Haplotyping.
American journal of human genetics - 7 Sept 2017
Vermeulen Carlo, Geeven Geert, de Wit Elzo, Verstegen Marjon J A M, Jansen Rumo P M, van Kranenburg Melissa, de Bruijn Ewart, Pulit Sara L, Kruisselbrink Evelien, Shahsavari Zahra, Omrani Davood, Zeinali Fatemeh, Najmabadi Hossein, Katsila Theodora, Vrettou Christina, Patrinos George P, Traeger-Synodinos Joanne, Splinter Erik, Beekman Jeffrey M, Kheradmand Kia Sima, Te Meerman Gerard J, Ploos van Amstel Hans Kristian, de Laat Wouter
Abstract excerpt
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...
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