Y染色体异常不育症患者胚胎植入前遗传学诊断36例临床分析

Clinical analysis of preimplantation genetic diagnosis of 36 cases of male infertility with Y chromosome abnormality

目的探讨使用荧光原位杂交（FISH）方法对Y染色体异常男性不育患者进行胚胎植入前遗传学诊断（PGD）的临床意义。方法36对不孕夫妇采用控制性促超排卵和卵胞浆内单精子注射（ICSI），受精后第3天行胚胎活检、卵裂球固定和FISH检测，第4或第5天选择核型为XX的女性胚胎移植，怀孕16周时，进行羊水复检。结果36例患者，每例患者均进行了一个ICSI—PGD周期，共36个周期，获卵总数580个。成熟卵子473个，正常受精398个，受精率为84．14％（398／473）；胚胎形成率99．50％（396／398）；优质胚胎率29．55％（117／396）；实施活检胚胎281个，胚胎活检成功率为100％（281／281）；卵裂球固定率为100％（281／281），其中12个卵裂球无细胞核；有细胞核卵裂球的FISH杂交成功率为100％（269／269）。FISH杂交结果显示，核型为XX的女性胚胎数为38．29％（103／269）；核型为XY的男性胚胎数为26．77％（72／269）；非整倍性异常胚胎数为34．94％（94／269）。共移植52个女性胚胎，着床率38．46％（20／52）；临床17例妊娠，妊娠率为47．22％。8例行染色体G显带核型分析及FISH复查，结果显示均为女性。目前已有12例正常女婴成功分娩。结论应用ICSI结合PGD治疗Y染色体异常男性不育症患者，选择正常女性胚胎植入母体子宫，是解决此类患者不育问题、同时避免Y染色体异常患儿出生的有效手段。

Objective To evaluate the clinical significance of fluorescence in situ hybridization（FISH） used for preimplantation genetic diagnosis（PGD） of male infertility with Y chromosome abnormality. Methods Ovarian hyperstimulation, oocyte pick-up and ICSI were performed in 36 cycles （36 couples）. Blastomere biopsy was per- formed at day 3. Genetic diagnosis was identified by single blastomere FISH and female embryos were transferred into uterus at day 4 or day 5. Amniotic fluid diagnosis was performed at 16th gestational week. Results A total of 36 ICSI- PGD cycles yielded 580 oocytes. There was 398 normal fertilized embryos in 473 matured oocytes, and the fertiliza- tion rate reached 84.14%; 281 embryo were biopsied, the rate of successful biopsy were 100% （281/281）; The rate of successful blastomere fixation were 100% （281/281）, 12 of them have no nucleus; The rate of adequate signal ofFISH were 100% （269/269）; FISH hybridization results showed that the rate of female embryos were 38.29% （103/269）; the rate of male embryos were 26.77% （72/269） and the rate of aneuploidy embryos were 34.94% （94/269）. A total of 52 female embryos were transferred and 17 cases clinical pregnancies were achieved, the rate of pregnancy were 47.22%. The 8 cases were analyzed by Chromosome G-banding karyotype analysis and FISH, the results indicated that all implanted embryos were female. So far, there have been 12 baby-girls successful delivery. Conclusion The applica- tion of ICSI-PGD for male infertility with Y chromosome abnormality and selection of female embryos for transferring to uterus could help us to solve the problems of infertility as well as to avoid the baby born with Y chromosome abnormality effectively.