Genome-wide noninvasive prenatal diagnosis of monogenic disorders: Current and future trends

Abstract excerpt

Noninvasive prenatal diagnosis (NIPD) is a risk-free alternative to invasive methods for prenatal diagnosis, e.g. amniocentesis. NIPD is based on the presence of fetal DNA within the mother’s plasma cell-free DNA (cfDNA). Though currently available for various monogenic diseases through detection of point mutations, NIPD is limited to detecting one mutation or up to several genes simultaneously. Noninvasive...

Topics

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• Fetal and Pediatric Neurological Disorders
• Genomic variations and chromosomal abnormalities
• Prenatal Screening and Diagnostics