Improved clinical outcomes of preimplantation genetic testing for aneuploidy using MALBAC-NGS compared with MDA-SNP array
Improved clinical outcomes of preimplantation genetic testing for aneuploidy using MALBAC-NGS compared with MDA-SNP array
复制标题
与 MDA-SNP 阵列相比，使用 MALBAC-NGS 改善非整倍体植入前基因检测的临床结果
DOI：
10.1186/s12884-020-03082-9
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发表时间：
2020-07-03
影响因子：
3.1
通讯作者：
Sun, Yingpu
中科院分区：
文献类型：
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作者：
Niu, Wenbin;Wang, Linlin;Sun, Yingpu
为了评估植入前非整倍体基因检测与下一代测序（NGS）在改善临床结局方面是否优于单核苷酸多态性（SNP）阵列。方法回顾性分析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。共纳入1418对接受PGT-A治疗的夫妇，其中805对夫妇使用NGS检测PGT-A，其余613对夫妇使用SNP阵列检测PGT-A。结果对5771例活检囊胚进行染色体核型分析，染色体正常者占32.2%（1861/5771），染色体异常者占67.8%。在临床结局方面，MALBAC-NGS-PGT-A组的女性临床妊娠率显著较高（50.5%vs41.7%，p = 0.002）和健康婴儿率（39.6%vs31.4%，p = 0.003），流产率较低结论本研究是目前报道基于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。这些结果提供了更多的证据，支持在PGT-A中更广泛地使用NGS，不仅因为其成本较低，而且与基于SNP的PGT-A相比，其临床结局也有所改善。
BackgroundTo assess whether preimplantation genetic testing for aneuploidy with next generation sequencing (NGS) outweighs single nucleotide polymorphism (SNP) array in improving clinical outcomes.MethodsA 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.ResultsAfter 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).ConclusionThis 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.