Clinical application of high-throughput sequencing technology in pre-implantation genetic diagnosis for chromosomal translocations

Objective To explore the application value of copy number variation sequencing (CNV-seq) in preimplantation diagnosis (PGD) of chromosomal translocation couples. Methods The clinical cases of 211 pairs of chromosomal translocation couples presented for PGD were analyzed retrospectively, from January 2017 to December 2018. CNV-seq was used to detect the chromosome of embryo, and the general information of patients and PGD results were analyzed. Results Among the 1210 embryos, 837 cases (79.2%) were found to have chromosomal abnormalities, and 373 cases (30.8%) were aneuploid. In 241 PGD cycles, 68 cycles (27.6%) had chromosomal abnormalities, 178 cycles (72.4%) had at least one aneuploid embryo. In 176 transplantation cycles, 130 pregnant women (73.9%) confirmed clinical pregnancy, 46 healthy infants had been born, and 12 cases had early abortion. Conclusion CNV-seq is a reliable and accurate PGD technology, which can distinguish the chromosomal abnormalities of embryos clearly and avoid the transplantation of embryos containing chromosomal abnormalities. Key words: DNA Copy number variations; Preimplantation diagnosis; High-throughput sequencing