PGT-A及PGT-SR在辅助生殖中的应用

目的探讨胚胎植入前遗传学检测(preimplantation genetic testing，PGT)在辅助生殖中应用的价值，为PGT的临床应用提供依据。 方法回顾性分析行非整倍体筛查（PGT for aneuploidies，PGT-A）和染色体结构异常检测（PGT for structural rearrangements，PGT-SR）助孕夫妇的临床资料、实验室资料及妊娠结局资料。采用囊胚期外滋养层细胞活检及基因检测技术,挑选检测结果正常的胚胎行单囊胚移植。比较年轻女性（＜35岁）组与高龄女性（≥35岁）组的一般资料、胚胎培养情况、胚胎活检结果及妊娠结局。 结果共纳入PGT-A 194个周期，635个胚胎，101个移植周期；共纳入PGT-SR 92个周期，399个胚胎，40个移植周期。PGT-A及PGT-SR中≥35岁组获卵数均少于＜35岁组(P＜0.05)，胚胎发育情况差异无统计学意义(P＞0.05)，PGT-A及PGT-SR中≥35岁组正常胚胎率明显低于＜35岁组(P＜0.05)。随着年龄的增加，PGT-A胚胎活检正常率逐渐下降；PGT-A 101个移植周期中活产44例（43.56%），各组间妊娠结局差异无统计学意义（P＞0.05）；PGT-SR 40个移植周期中活产19例（47.50%），妊娠结局差异无统计学意义（P＞0.05）；子代均健康。 结论PGT是解决复发性流产、高龄女性、染色体异常夫妇的有效治疗手段，能够有效改善高龄女性的生育状况，但40岁以后的女性是否行PGT助孕，应权衡利弊后决定。

Application of PGT-A and PGT-SR in assisted reproduction

ObjectiveTo summarize the application value of preimplantation genetic testing(PGT) in assisted reproduction.MethodsThe clinical data, laboratory data and pregnancy outcome data of couples assisted by PGT for aneuploidies(PGT-A )and PGT for structural rearrangements(PGT-SR) in the Sixth Medical Center of PLA General Hospital were retrospectively analyzed. The embryos with normal test results after blastocyst extracorporeal trophoblastic cell biopsy and genetic testing were selected for single blastocyst transfer. The general information, embryo status, embryo biopsy results and pregnancy outcome were compared between younger(＜35 years of age)and older(≥35 years of age) women.ResultsA total of 194 cycles, 635 embryos and 101 transfer cycles were included in PGT-A. A total of 92 cycles, 399 embryos and 40 transfer cycles were included in PGT-SR. In both PGT-A and PGT-SR, the number of retrieved oocytes of ≥35 years group was less than that of ＜35 years women(P＜0.05), and there was no statistical difference in the subsequent embryonic development(P＞0.05). However, the normal embryo rate of ≥35 years group in PGT-A and PGT-SR was significantly lower than that of ＜35 years group(P＜0.05), and with the increase of age, the normal rate of PGT-A embryo biopsy decreased gradually. There were 44 live births(43.56%) in 101 transfer cycles of PGT-A, and there was no statistical difference in pregnancy outcomes between two groups(P＞0.05). There were 19 live births(47.50%) in the 40 transfer cycles of PGT-SR, and there was no statistical difference in pregnancy outcomes between two groups(P＞0.05). All the children were healthy.ConclusionPGT is an effective treatment for recurrent abortion, elderly women and couples with chromosomal abnormalities. The clinical application of PGT can effectively improve the fertility status of elderly women, however, whether women after the age of 40 are suitable for PGT should be decided after weighing the pros and cons.