Sensitive Monogenic Noninvasive Prenatal Diagnosis by Targeted Haplotyping

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 assessment of inherited alleles from cffDNA, techniques currently unavailable for routine clinical practice.

Source: The American Journal of Human Genetics - August 24, 2017 Category: Genetics & Stem Cells Authors: Carlo Vermeulen, Geert Geeven, Elzo de Wit, Marjon J.A.M. Verstegen, Rumo P.M. Jansen, Melissa van Kranenburg, Ewart de Bruijn, Sara L. Pulit, Evelien Kruisselbrink, Zahra Shahsavari, Davood Omrani, Fatemeh Zeinali, Hossein Najmabadi, Theodora Katsila, Ch Tags: Article Source Type: research