Expanding the indications for cell-free DNA in the maternal circulation: clinical considerations and implications

Non-invasive prenatal testing (NIPT) for fetal aneuploidy using cell-free DNA has been widely integrated into routine obstetrical care. The scope of cfDNA testing has expanded from trisomies 21, 18, and 13 to include sex chromosome conditions, panels of specific microdeletions, and more recently genome-wide copy number variants and rare autosomal trisomies. Because the technical ability to test for a condition does not necessarily correspond with a clinical benefit to a population or to individual pregnant women, the benefits and harms of screening programs must be carefully weighed before implementation.

Source: American Journal of Obstetrics and Gynecology - January 10, 2019 Category: OBGYN Authors: Gian Carlo di Renzo, Jose ’ Luis Bartha, Catia M. Bilardo Tags: Expert Review Source Type: research