Prenatal CMA using exon-level coverage for ‘disease gene’ CNV interrogations in the era of non-invasive prenatal testing

Non-invasive prenatal testing (NIPT) with cell-free DNA is widely accepted as standard of care to screen for common aneuploidies, and some platforms also include screening for microdeletions/duplications. This shift in clinical practice affects the use of chromosomal microarray analysis (CMA) in the prenatal setting. In addition, microarrays with exon-by-exon coverage for disease genes enable detection of intragenic copy number variants (CNVs) leading to increased sensitivity to postnatal diagnosis but such arrays are rarely used in prenatal CMA.