Progenity has launched the Resura prenatal test for monogenic disease, a customizable, noninvasive prenatal test (NIPT) for single-gene disorders. The test is available to families with known risk for monogenic disease such as cystic fibrosis, sickle cell anemia, and Tay-Sachs disease. The test, which was developed using droplet digital PCR, uses fetal cell-free DNA extracted from a sample of the mother's blood, and can be performed on disease-causing variants of all inheritance types, including recessive, dominant, and X-linked genetic mutations.
Progenity also announced improvements to its Innatal prenatal screen, a NIPT for chromosomal aneuploidies that now provides greater specificity and sensitivity in evaluating aneuploidy across all chromosomes. Specifically, the sequencing-based test has been enhanced in terms of detecting aneuploidies in chromosomes 21, 18, 13, X, and Y, the company said.