【摘要】 目的:分析男性罗氏易位的生育期临床特点,探讨胚胎着床前遗传学诊断(preimplantation genetic diagno-sis,PGD)技术在男性罗氏易位携带者中的临床应用。方法:2005年1月至2011年10月,共对80例男性罗氏易位携带者进行了96个PGD周期,选择正常或罗氏易位核型的胚胎移植。分析男性罗氏易位携带者的临床特点及其PGD周期的临床特点。结果:80对男性罗氏易位者夫妇中,62对夫妇因男方严重少、弱精症而致原发不孕,占77.50%(62/80);8对夫妇因男方继发少、弱精症而出现继发不孕,占10%(8/80);10对夫妇因反复自然流产就诊,占1 2.50%(10/80)。80例男性罗氏易位携带者中,(13;14)易位有50例,占62.50%(50/80);(14;21)易位有15例,占18.75%(15/80)。96个PGD周期中,17个周期无胚胎可以移植,79个周期进行了胚胎移植,25个PGD周期获得临床妊娠,妊娠率31.65%(25/79)。至目前,共有18对夫妇分娩了21个健康子代,3对夫妇持续妊娠中。结论:少、弱精症是男性罗氏易位携带者不育的主要原因,辅助生育技术可以解决其不育问题。PGD技术可以为男性罗氏易位携带者获得健康的子代提供帮助,减少了女方流产及分娩畸形儿的发生率。更多还原

【Abstract】 Objective:To explore the clinical characteristics and the preimplantation genetic diagnosis(PGD) for male Robertsonian translocations.Methods: From Jan 2005 to Oct 2011,96 PGD cycles of 80 male Robertsonian translocations were performed at the Center of Reproductive Medicine of Peking University Third Hospital,Beijing.All the couples were involved in assisted reproductive therapy because of oligozoospermia or repeated abortions.Pregnancy results and clinical characteristics were analyzed in this study.Results: Of all the 80 Robertsonian translocation couples,62(77.50%,62/80) couples suffered from primary infertility due to severe oligoospermia and 8(10%,8/80) couples suffered from secondary infertility due to oligoospermia.Moreover,10(12.50%,10/80) couples had recurrent spontaneous abortion.Of all the 80 male Robertsonian translocations,50 were(13;14) translocations and 15(14;21) translocations.The study showed that 79 PGD cycles had the balanced embryos to transfer and 25 cycles resulted in clinical pregnancies.The clinical pregnancy rate per transfer cycle was 31.65%(25 of 79).Now,18 couples had 21 viable infants and 3 were ongoing pregnant.Conclusion: Oligozoospermia is the main factor for the infertility of the male Robertsonian translocations.Artificial reproductive techniques can solve their reproductive problems.Moreover,PGD will decrease the risk of recurrent spontaneous abortion and the malformations.更多还原