Up to 95% of chromosomal abnormalities diagnosed prenatally involve aneuploidy (gain or loss of whole chromosome) of chromosomes 13, 18, 21, X, and Y. In liveborn infants, about 8/1,000 have a major chromosome anomaly, of which 6.5/1,000 involve aneuploidy of the 5 chromosomes analyzed. Therefore, aneuploidy of chromosomes 13, 18, 21, X, and Y accounts for 81% to 95% of major chromosome anomalies in liveborn infants.

Aneuploidy Panel 18/X/Y and 13/21 is designed for chromosome enumeration of the chromosomes 13, 18, 21, X, and Y. Trisomies of the autosomes 13, 18, or 21 (Down Syndrome) are common genomic aberrations. Aberrant numbers of the gonosomes X and Y are resulting in disorders of sex development (DSD). Diseases such as Ulrich-Turner-Syndrome (45, X) or Triple X Syndrome (47, XXX) may cause severe developmental and metabolic disorders. The prevalence of chromosomal abnormalities detectable in the newborn, including chromosome 13, 18, 21, X, and Y, is about 0.92%