摘要目的:探讨胚胎植入前遗传学检测（preimplantation genetic testing，PGT）技术对妊娠围产结局及子代健康的影响。方法:回顾性病例对照研究分析2015年1月至2021年8月期间在海军军医大学第二附属医院生殖医学中心进行PGT和卵胞质内单精子注射（intracytoplasmic sperm injection，ICSI）助孕、冷冻复苏周期单囊胚移植的患者资料，纳入882例患者，共行1 081个冻融胚胎移植（frozen-thawed embryo transfer，FET）周期。其中PGT组399例患者，行527个周期，ICSI组483例患者，行554个周期。根据PGT技术指征不同，将PGT组又分为染色体结构异常检测/单基因遗传学检测（PGT for structural rearrangements/monogenic defects/single gene defects monogenic，PGT-SR/M）亚组和胚胎染色体非整倍体检测（PGT for aneuploidies，PGT-A）亚组，分别与ICSI组比较临床妊娠率、流产率、活产率。对移植后临床妊娠者进行分析，以活产作为观察终点，其中PGT-SR/M亚组共102例行189个周期，PGT-A亚组共184例行338个周期，ICSI组 268例，分别比较围产结局以及子代安全性。结果:PGT-SR/M亚组的临床妊娠率［71.96%（136/189）］高于ICSI组［61.73%（342/554）， P=0.011］，而PGT-A亚组的临床妊娠率［64.50%（218/338）］与ICSI组差异无统计学意义（ P>0.05）。PGT-SR/M亚组与PGT-A亚组的活产率高于ICSI组，但差异均无统计学意义（均 P>0.05）。各组间流产率、早产率、妊娠并发症发生率差异均无统计学意义（均 P>0.05）。另外，PGT-SR/M亚组与PGT-A亚组在新生儿低出生体质量率、巨大儿出生率、出生缺陷发生率等方面差异也均无统计学意义（均 P>0.05）。PGT组儿童2岁内的生长发育曲线正常，与ICSI组相比，PGT组的身高和体质量差异均无统计学意义（均 P>0.05）。 结论:相同授精方式下，侵入性的胚胎活检操作并未增加妊娠围产相关并发症的发生，而且，暂未发现PGT对子代的生长发育有不利影响。

abstractsObjective:To explore the effect of preimplantation genetic testing (PGT) on perinatal outcome and offspring health.Methods:Retrospective case-control analysis was made on the data of patients undergoing PGT and intracytoplasmic sperm injection (ICSI) assisted pregnancy and single blastocyst transplantation in Reproductive Medicine Center of the Second Affiliated Hospital of Naval Medical University from January 2015 to August 2021. A total of 882 patients were included and 1 081 cycles of frozen-thawed embryo transfer (FET) were performed. Among them, 399 patients in the PGT group underwent 527 cycles, and 483 patients in the ICSI group underwent 554 cycles. According to the different indications of PGT technology, they were divided into PGT for structural rearrangements/monogenic defects/single gene defects monogenic (PGT-SR/M) subgroup and PGT for aneuploidies (PGT-A) subgroup. The clinical pregnancy rate, the abortion rate and the live birth rate were compared with those in the ICSI group. The clinical pregnancy after transplantation was analyzed, and the live birth was taken as the observation end point. There were 102 cases in the PGT-SR/M subgroup, 184 cases in the PGT-A subgroup, and 268 cases in the ICSI group. The perinatal outcome and the safety of offspring were compared respectively.Results:The clinical pregnancy rate in the PGT-SR/M subgroup [71.96% (136/189)] was higher than that in the ICSI group [61.73% (342/554), P=0.011], while there was no statistically significant difference between the PGT-A subgroup [64.50% (218/338)] and the ICSI group ( P>0.05). The live birth rate of both PGT-SR/M subgroup and PGT-A subgroup was higher than that of the ICSI group, but the differences were not statistically significant (all P>0.05). There were no statistically significant differences in the rates of miscarriage, premature birth, and pregnancy complications among the groups (all P>0.05). In addition, there were no statistically significant differences between the PGT-SR/M subgroup and the PGT-A subgroup in terms of low birth weight rate, macrosomia birth rate, and the incidence of birth defect (all P>0.05). The growth and development curve of children in the PGT group was normal within 2 years of age, and there were no statistically significant differences in height and weight between the PGT group and the ICSI group (all P>0.05). Conclusion:Under the same fertilization method, invasive embryo biopsy procedures did not increase the incidence of perinatal complications during pregnancy, and no adverse effects of PGT on the growth and development of offspring have been found.