Noninvasive Prenatal Testing for Chromosomal and Genetic Conditions

Abstract

Abstract Recent advances in molecular genetics and next‐generation DNA (deoxyribonucleic acid) sequencing have generated a new approach to identifying foetuses at increased risk of chromosomal and genetic conditions by measuring cell‐free DNA in maternal plasma. This so‐called noninvasive method utilises cell‐free DNA of placental origin in maternal blood to achieve unprecedented accuracy as a prenatal screening test for Down syndrome. The technology has also created new opportunities for noninvasive testing for single gene disorders, microdeletion syndromes and genome‐wide chromosomal abnormalities. Key Concepts ..