Abstract
Background: Advances in biotechnology, especially next-generation sequencing (NGS) and array comparative genomic hybridization (aCGH) approaches, have improved preimplantation genetic screening; however, these methods have not been directly compared. This study was carried out to identify the more promising method for screening reciprocal and Robertsonian translocations. Here, blastocysts from carriers with reciprocal and Robertsonian translocations were retrospectively evaluated and results from preimplantation genetic testing in 272 blastocytes were analysed for parental unbalanced translocations using aCGH and NGS. Results: There was no significant difference in the no embryo-transfer rate between aCGH and NGS. Among 59 blastocysts screened in the aCGH group, 32.76% were normal embryos and 67.24% were abnormal embryos, including 36.21% embryos with a translocation, 17.24% with no translocation, and 15.52% with combined abnormalities. Similar results were obtained from the 214 blastocysts tested in the NGS group. In women <35-years, more normal blastocysts were identified in the NGS group compared to the aCGH group. There was a higher rate of euploidy among blastocysts with higher quality grades in the NGS group than in the aCGH group for the trophectoderm (43.51% vs 29.41%) and inner cell mass (59.11% vs 25.00%). Conclusion: Equivalent clinical findings were observed for aCGH and NGS for parental reciprocal chromosomal translocations. However, NGS has the potential to overcome the inherent limitations of aCGH, including the detection of mosaicism and smaller partial gains/losses, thereby providing improvements in the detection of euploid blastocysts, along with enhanced reliability and sensitivity.
Identification of mosaic and segmental aneuploidies by next-generation sequencing in preimplantation genetic screening can improve clinical outcomes compared to array-comparative genomic hybridization