Ep462: Detection of Clinically Relevant Exonic Copy Number Changes in Fetuses by Chromosomal Microarray Analysis

Chromosomal microarray (CMA) has enabled the detection of clinically significant copy number variants (CNVs) that are otherwise below the detection limit of conventional cytogenetics. It is well documented that CMA using microarrays with exonic coverage of disease genes allows the detection of small clinically relevant exonic CNVs. In 2016, the American Congress of Obstetricians and Gynecologist (ACOG) and the Society for Maternal-Fetal Medicine (SMFM) jointly recommended CMA as the first-tier test in the diagnostic evaluation of a patient with a fetus having 1 or more abnormal findings on ultrasound, and in cases of intrauterine fetal death or stillbirth.