常染色体平衡易位携带者控制性促排卵周期卵巢反应性分析

目的探讨常染色体平衡易位及类型对胚胎植入前遗传学诊断(PGD)周期控制性促排卵(COS)中卵巢反应性的影响。方法回顾性分析379对染色体平衡易位夫妇行PGD的426个COS周期,其中男方正常女方为平衡易位携带者182个周期(研究组,A组),包括罗氏易位44个周期(A1组),相互易位138个周期(A2组);女方正常男方为平衡易位携带者244个周期(对照组,B组),包括罗氏易位65个周期(B1组),相互易位179个周期(B2组)。比较各组间COS中女方卵巢反应性指标。结果研究组与对照组间年龄、体质量指数(BMI)、基础内分泌(FSH、E2、LH)、窦卵泡数(AFC)、促性腺激素(Gn)用量和使用时间、第2日和第3日胚胎数、囊胚数、卵子成熟率、囊胚形成率等均无统计学差异(P0.05);A组h CG注射日E2水平、正常信号囊胚数(5 469.8±2 365.1)ng/L,1.4±1.4]均显著低于B组(6 033.3±2 587.5)ng/L,1.8±1.8](P0.05),A组取卵数、MII卵子数、形成囊胚数均低于B组,但是无统计学差异(P0.05);A1组h CG注射日E2水平、正常信号囊胚数(5 573.2±2 146.1)ng/L,1.5±1.5]显著低于B1组(6 565.0±2 961.1)ng/L,2.8±2.2](P0.05);A2组取卵数(14.6±6.6)显著低于B2组(16.5±6.7)(P0.05)。结论 (1)女方常染色体平衡易位可能影响COS中卵巢反应性;(2)女方罗氏易位形成平衡或正常胚胎几率低于男方罗氏易位者。

Analysis of ovarian response to controlled ovarian stimulation in autosomal balanced translocation carriers

Objective To investigate the effect of autosomal balanced translocation and types on ovarian response in preimplantation genetic diagnosis (PGD)-controlled ovarian stimulation (COS),Methods A retrospective analysis of 426 cycles of PGD for 379 couples with balanced translocations was performed,female translocation carriers were involved as the study group (group A),including 44 cycles ofRobertson translocation (group A1) and 138 cycles of reciprocal translocations (group A2);male translocation carriers were involved as control group (group B),including 65 cycles ofRobertson translocation (group B 1) and 179 cycles of reciprocal translocations (group B2).The COS parameters were compared between these groups.Results The age,body mass index (BMI),basal endocrine (FSH,E2,LH),antral follicle count (AFC),gonadotropin (Gn) dosage and duration,day 2 (D2) and D3 embryo number,number ofblastocysts,egg maturation rate and blastocyst formation rate were not significantly different (P＞0.05).In group A,the E2 level on the day ofhCG administration (5 469.8 ±2 365.1) ng/L] and the number ofoocytes retrieved (1.4± 1.4) were significantly lower than those of group B (6 033.3 ± 2 587.5) ng/L,1.8± 1.8] (P＜0.05).The E2 level on the day ofhCG administration and the number ofnormal blastocysts in group A1 (5 573.2±2 146.1) ng/L,1.5 ± 1.5] was lower than those of group B 1 (6 565.0± 2 961.1) ng/L,2.8± 2.2] (P＜0.05).The number of oocytes retrieved in group A2 (14.6 ± 6.6) was lower than that of group B2 (16.5 ± 6.7) (P＜0.05).Conclusions 1) Autosomal translocations in femal may affect the ovarian response in COS.2) The rate of forming balanced or normal embryo is lower in female Robertson translocation carriers than males.