女性罗氏易位携带者辅助生育治疗5例临床分析

Strategies of PGD for female robertsonian translocation carriers:with a clinical analysis of 5 cases.

目的:探讨应用极体分析和分裂球分析法对反复流产的女性罗氏易位携带者进行着床前遗传学诊断(PGD)的临床策略。方法:采用荧光原位杂交(FISH)技术,对5例患者用全染色体涂抹探针检测第一极体和用特异位点探针检测分裂球中相应染色体的荧光信号。5例女性罗氏易位携带者的外周血淋巴细胞染色体核型分别为:45,XX,der (13;14)(q10;q10)3例,45,XX,der(14;21)(q10;q10)、45,XX,der(21;22)(q10;q10)各1例。结果:5例患者中4例获得妊娠并分娩,其中2例经分裂球分析后妊娠,出生3个婴儿:2个正常核型,1个罗氏易位携带者;1例经极体分析诊断后分娩一正常男婴;另1例极体分析未明确诊断又行分裂球分析选择胚胎移植后,出生1个罗氏易位携带者后代。结论:(1)女性罗氏易位携带者PGD应首选极体分析,争取避免携带者出生;(2)极体分析未能得到诊断的胚胎可在分裂球期再次PGD。

Objective：To explore the clinical strategies for preimplantation genetic diagnosis （PGD） of female Robertsonian translocation carriers with a history of recurrent spontaneous abortion. Methods：PGD was given to 5 female Robertsonian translocation carriers with a history of recurrent spontaneous abortion. The karyotypes of 3 cases were 45, XX, der（ 13 ; 14 ） （ q10 ; q10）, 1 case was 45, XX, der（ 14 ;21 ） （ q10 ; q10） and 1 case was 45, XX,der（21 ;22） （q10 ;q10）. For two cases,blastomere biopsy of day 3 embryos and fluorescence in situ hybridization （FISH） was done. First polar body biopsy of MII oocytes, and FISH with whole chromosome painting probes was conducted in other two cases. In the remaining case, as no clear diagnosis was reached by the first polar body biopsy, blastomere biopsy was done on day 3. Results： Four of five cases were pregnant. Two pregnancies were achieved after blastomere biopsy PGD, resulting in the birth of three babies, with two normal karyotypes and one balanced carrier. A normal male baby was born after PGD by polar body biopsy. In the remaining case, blastomere biopsy PGD was used after first polar body biopsy failed to yield a clear diagnosis, A health female baby was born with the same Robertsonian karyotype. Conclusion： Polar body biopsy should be the first choice for PGD of female Robertsonian translocation carriers to avoid the birth of balanced carriers.