This document discusses new developments in prenatal genetic screening and testing, including non-invasive prenatal testing (NIPT) for fetal aneuploidies. It provides an overview of current screening and diagnostic testing options, describes how NIPT works using cell-free DNA in maternal blood, and reviews validation studies showing high sensitivity and specificity of NIPT for common trisomies. While NIPT is a significant development, the document notes limitations including lack of data in some high-risk populations and need for follow up diagnostic testing to confirm results.
Original Description:
new genetics
Original Title
The New Genetics- Paradigm Shifts in Prenatal Diagnosis - Jennifer Hoskovec, MS, CGC
This document discusses new developments in prenatal genetic screening and testing, including non-invasive prenatal testing (NIPT) for fetal aneuploidies. It provides an overview of current …