Detection of copy number variants with chromosomal microarray in 10  377 pregnancies at a single laboratory

ConclusionsWith an indication of advanced maternal age but normal ultrasound scans, the prevalence of pathogenic CNVs was 0.4% and that of susceptibility CNV 0.7%. As CNVs are independent of maternal age, the prevalence is likely the same for younger women. Thus, this study provides further evidence that chromosomal microarray analysis should be available for all women who wish to receive diagnostic testing, as this risk is above the cut ‐off of 1:300 for Down syndrome, leading to the suggestion of invasive testing. A chromosomal microarray analysis based on SNP‐array platform is preferable, as it can also detect uniparental disomy in addition to copy number variants.
Source: Acta Obstetricia et Gynecologica Scandinavica - Category: OBGYN Authors: Tags: ORIGINAL RESEARCH ARTICLE Source Type: research