Abstract

Non-Invasive Prenatal Screening for Genetic Disorders Using Cell-Free DNA in Maternal Plasma

Peter Benn, Professor Emeritus, University of Connecticut Health Center

Methods to quantify fetal DNA copy number in maternal plasma has revolutionized prenatal screening and diagnosis of Down syndrome, other autosomal trisomies, sex chromosome abnormalities, and some microdeletion syndromes.  This testing provides more accurate and screening than was previously possible and has thereby drastically reduced the number of chorionic villus biopsies and amniocenteses that are performed to confirm screening results.  This non-invasive prenatal testing is being extended to include additional genetic conditions including single gene disorders.  This talk will discuss the current status of this screening and comment on future prospects.