Integrated CNV-seq, karyotyping and SNP-array analyses for effective prenatal diagnosis of chromosomal mosaicism

Abstract Background Emerging studies suggest that low?coverage massively parallel copy number variation sequencing (CNV-seq) more sensitive than chromosomal microarray analysis (CMA) for detecting low-level mosaicism. However, a retrospective back-to-back comparison evaluating accuracy, efficacy, and incremental yield of CNV-seq compared with CMA is warranted. Methods A total 72 mosaicism cases identified by karyotyping or were recruited to the study. There 67 mosaic samples co-analysed CNV-seq, comprising 40 sex chromosome aneuploidy, 22 autosomal aneuploidy 5 large cryptic genomic rearrangements. Results Of positive cases, levels defined ranged from 6 92% ratio 3 90% 20% 72% CMA. not only all 43 aneuploidies rearrangements detected CMA, but also provided 34.88% (15/43) increased The improved detection was largely due ability detect low level below 20%. Conclusion In context prenatal diagnosis, additional clinically significant enhanced resolution sensitivity. This study provides strong evidence applying as an alternative variants.