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

• Main Authors: Na Ma (Author), Hui Xi (Author), Jing Chen (Author), Ying Peng (Author), Zhengjun Jia (Author), Shuting Yang (Author), Jiancheng Hu (Author), Jialun Pang (Author), Yanan Zhang (Author), Rong Hu (Author), Hua Wang (Author), Jing Liu (Author)
• Format: Book
• Published: BMC, 2021-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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, an...