使用 MALBAC-NGS 进行胚胎植入前遗传学检测非整倍体与 MDA-SNP 阵列相比，改善了临床结局。
Improved clinical outcomes of preimplantation genetic testing for aneuploidy using MALBAC-NGS compared with MDA-SNP array.
机构信息
Center for Reproductive Medicine, The First Affiliated Hospital of Zhengzhou University, Eastern Jianshe Road, Erqi District, Zhengzhou City, Henan Province, People's Republic of China.
Henan Key Laboratory of Reproduction and Genetics, The First Affiliated Hospital of Zhengzhou University, Eastern Jianshe Road, Erqi District, Zhengzhou City, Henan Province, People's Republic of China.
出版信息
BMC Pregnancy Childbirth. 2020 Jul 3;20(1):388. doi: 10.1186/s12884-020-03082-9.
BACKGROUND
To assess whether preimplantation genetic testing for aneuploidy with next generation sequencing (NGS) outweighs single nucleotide polymorphism (SNP) array in improving clinical outcomes.
METHODS
A retrospective analysis of the clinical outcomes of patients who underwent PGT-A treatment in a single center from January 2013 to December 2017.A total of 1418 couples who underwent PGT-A treatment were enrolled, of which 805 couples used NGS for PGT-A, while the remaining 613 couples used SNP array for PGT-A. Clinical pregnancy rate, miscarriage rate and healthy baby rate were compared between the MALBAC-NGS-PGT-A and MDA-SNP-PGT-A groups.
RESULTS
After testing karyotypes of 5771 biopsied blastocysts, 32.2% (1861/5771) were identified as chromosomally normal, while 67.8% were chromosomally abnormal. In terms of clinical outcomes, women in the MALBAC-NGS-PGT-A group had a significantly higher clinical pregnancy rate (50.5% vs 41.7%, p = 0.002) and healthy baby rate (39.6% vs 31.4%, p = 0.003), and a lower miscarriage rate (15.5% vs 22.8%, p = 0.036).
CONCLUSION
This is the largest study reporting the extensive application of NGS-based PGT-A, whilst comparing the clinical outcomes of MALBAC-NGS-PGT-A and MDA-SNP-PGT-A. The results provide greater evidence supporting the wider use of NGS in PGT-A, not only for its lower cost but also for its improved clinical outcomes compared to SNP-based PGT-A.
背景
评估新一代测序（NGS）的胚胎植入前遗传学检测（PGT-A）是否优于单核苷酸多态性（SNP）阵列，以改善临床结局。
方法
对 2013 年 1 月至 2017 年 12 月在单中心接受 PGT-A 治疗的患者的临床结局进行回顾性分析。共纳入 1418 对接受 PGT-A 治疗的夫妇，其中 805 对夫妇使用 NGS 进行 PGT-A，其余 613 对夫妇使用 SNP 阵列进行 PGT-A。比较 MALBAC-NGS-PGT-A 和 MDA-SNP-PGT-A 组的临床妊娠率、流产率和健康婴儿率。
结果
对 5771 个活检囊胚进行染色体核型检测后，发现 32.2%（1861/5771）为染色体正常，67.8%为染色体异常。在临床结局方面，MALBAC-NGS-PGT-A 组的临床妊娠率（50.5%比 41.7%，p=0.002）和健康婴儿率（39.6%比 31.4%，p=0.003）显著更高，流产率（15.5%比 22.8%，p=0.036）显著更低。
结论
这是报道基于 NGS 的 PGT-A 广泛应用的最大规模研究，同时比较了 MALBAC-NGS-PGT-A 和 MDA-SNP-PGT-A 的临床结局。结果为 NGS 在 PGT-A 中的更广泛应用提供了更多证据支持，不仅因为其成本更低，还因为与 SNP 为基础的 PGT-A 相比，其具有更好的临床结局。
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