应用荧光原位杂交技术(FISH)对罗伯逊易位携带者进行胚胎着床前遗传学诊断  

Preimplantation genetic diagnosis for Robertsonian translocation carriers

作　　者：刘平[1] 黄锦[1] 廉颖[1] 陈咏健[1] 任秀莲[1] 乔杰[1] 

机构地区：[1]北京大学第三医院妇产科生殖医学中心,北京100083

出　　处：《中国优生与遗传杂志》2008年第3期66-68,F0002,共4页Chinese Journal of Birth Health & Heredity

摘　　要：目的用FISH对罗伯逊易位携带夫妇行胚胎着床前遗传学诊断,选择正常/平衡核型的胚胎移植。方法对14例罗伯逊易位携带者(男性9例,女性5例)行IVF/ET/PGD共15周期。9例男性和2例女性罗伯逊易位携带者体外受精后第3天卵裂球活检,3例女性携带者极体活检或极体活检加卵裂球活检;用特异位点探针或全染色体涂抹探针荧光原位杂交,选择信号正常或平衡的胚胎移植。结果15个PGD周期,共活检胚胎或MII卵母细胞120枚;取出卵裂球120个、第一极体18个,固定成功率92·8%(128/138);杂交成功率为96·1%(123/128)。活检后胚胎继续发育69·2%(83/120);15例PGD周期中,移植13例;6例获得妊娠(6/13);其中女性携带者妊娠4例(4/4),男性携带者妊娠2例(2/9),二者差异具有显著性(P<0·05)。结论1.对存在不孕因素的罗伯逊易位携带者做胚胎着床前遗传学诊断,选出正常/平衡核型的胚胎移植可有较好的临床预后。2.对女性罗伯逊易位携带者可首选极体活检,使患者有机会避免罗伯逊易位携带者出生。Objective： To perform preimplantation genetic diagnosis （PGD） of Robertsonian translocation carriers by fluorescence in situ hybridization （ FISH）, and to transfer the normal or balanced embryos . Methods ： This is a retrospective review of data from our center that involved 14 Robertsonian translocation carrier couples who have recurrent miscarriage or male oligozoospermia. 15 PGD cycles was carried out using blastomere biopsy or 1 st polar body biopsy, FISH with whole chromosome painting probes or locus - specific probes. After diagnosis, only the normal or balanced embryos were transferred to the wombs. Results： In 15 PGD cycles, embryos and MII oocytes were available for biopsy, with the further cleavage rate of 69.2% （83/120）. There are 120 blastomeres and 18 1st polar bodies （total 138） were obtained, and the fixation success rate was 92. 8% （128/138）. In 15 PGD cycles, 13cycles were transferred. 6 clinical pregnancies were achieved, with the pregnancy success rate was 46.2% （6/13）. In all the transferred cases, 2 male- cartier couples were pregnancy （22. 2%, 2/9） and 4 female - carrier couples were pregnancy （ 100%, 4/4）, （ P 〈 0.05）. Conclusion： 1. PGD is useful for solving the reproductive problem of Robertsonian translocation carriers. 2. PGD with 1st polar body biopsy for the female Robertsonian translocation carriers is a valuable method to screen out the balanced embryos, which can avoid the birth of the Robertsonian translocation carrier fetuses. 3move to the part of discussion.

关 键 词：罗伯逊易位 荧光原位杂交 着床前遗传学诊断 

分 类 号：R714.5[医药卫生—妇产科学]