Molecular pathology selected abstracts
March 2019—Using circulating cell-free fetal DNA to test for monogenic disorders: Screening for fetal chromosomal abnormalities can be performed by noninvasive methods in which fetal cell-free DNA (cfDNA) circulating in the maternal blood is isolated and analyzed. However, the standard of care for screening for monogenic diseases remains population-based carrier screening—testing the parents for their carrier status of deleterious genes.