Noninvasive Prenatal Diagnosis of a Fetal Microdeletion Syndrome

Abstract

To the Editor: The definitive diagnosis of fetal aneuploidy and genomic imbalances requires invasive collection of fetal cells through amniocentesis or chorionic villus sampling. These methods are associated with fetal loss and parental anxiety. Analyses of DNA in maternal plasma have shown the potential for noninvasive diagnosis of common aneuploidies.1 A couple presented for prenatal genetic counseling at the Magee–Womens Hospital of the University of Pittsburgh Medical Center. They had previously had a child with developmental delay and dysmorphic features in whom a paternally inherited 4.2-Mb deletion on chromosome 12 between bands 12p11.22 and 12p12.1 had been diagnosed (Figure 1A). . . .