CAJ | 학술논문

目的探讨染色体易位对早期胚胎发育的影响,以及植入前遗传学诊断(PGD)技术的诊断效率和可行性.方法回顾性分析PGD中23个罗伯逊(罗氏)易位周期、19个平衡易位周期(染色体易位组),以及58个α地中海贫血周期(地贫组)共100个周期中的胚胎发育情况、PGD的诊断效率以及临床结局.结果染色体易位组中有354个胚胎进行PGD,321(90.7%)个胚胎有荧光原位杂交(FISH)结果,其中罗氏易位者中正常和(或)平衡易位胚胎占38.3%(64/167),显著高于平衡易位者的20.8%(32/154).地贫组有537个胚胎进行PGD,单个卵裂球的扩增效率为82.5%(443/537),诊断出正常纯合子140个、杂合子112个、异常纯合子155个、另36个诊断结果不明确,总体诊断效率为75.8%(407/537).染色体易位组中,取卵后第3天卵裂球数≥7的胚胎中,正常和(或)平衡易位发生率(34.4%,77/224)显著高于卵裂球数＜7的胚胎(19.6%,19/97),在取卵后第4天,正常和(或)平衡易位胚胎的细胞融合率为59.4%(57/96),显著高于染色体不平衡胚胎的34.2%(77/225).染色体易位组共在37个周期移植了75个胚胎,获得10例临床妊娠,临床妊娠率27.0%(10/37).地贫组共在58个周期移植了170个胚胎,获得25例临床妊娠,临床妊娠率为43.1%(25/58).结论 PGD技术可有效为染色体易位和地中海贫血基因携带者提供优生选择.染色体易位可能对着床前胚胎的发育有一定的影响.
목적 탐토염색체역위대조기배태발육적영향,이급식입전유전학진단(PGD)기술적진단효솔화가행성.방법 회고성분석PGD중23개라백손(라씨)역위주기、19개평형역위주기(염색체역위조),이급58개α지중해빈혈주기(지빈조)공100개주기중적배태발육정황、PGD적진단효솔이급림상결국.결과 염색체역위조중유354개배태진행PGD,321(90.7%)개배태유형광원위잡교(FISH)결과,기중라씨역위자중정상화(혹)평형역위배태점38.3%(64/167),현저고우평형역위자적20.8%(32/154).지빈조유537개배태진행PGD,단개란렬구적확증효솔위82.5%(443/537),진단출정상순합자140개、잡합자112개、이상순합자155개、령36개진단결과불명학,총체진단효솔위75.8%(407/537).염색체역위조중,취란후제3천란렬구수≥7적배태중,정상화(혹)평형역위발생솔(34.4%,77/224)현저고우란렬구수＜7적배태(19.6%,19/97),재취란후제4천,정상화(혹)평형역위배태적세포융합솔위59.4%(57/96),현저고우염색체불평형배태적34.2%(77/225).염색체역위조공재37개주기이식료75개배태,획득10례림상임신,림상임신솔27.0%(10/37).지빈조공재58개주기이식료170개배태,획득25례림상임신,림상임신솔위43.1%(25/58).결론 PGD기술가유효위염색체역위화지중해빈혈기인휴대자제공우생선택.염색체역위가능대착상전배태적발육유일정적영향.
Objective To investigate influence of chromosomal translocations on early embryo development and to evaluate the efficacy and feasibility of preimplantation genetic diagnosis (PGD)techniques through clinical analysis on PGD cycles. Methods Embryo development, efficacy of PGD and clinical outcome of 100 cycles were studied retrospectively, including 23 cycles with Robertsonian translocations, 19 cycles with reciprocal translocations, and 58 cycles for α-Thalassaemia. Results Among 354 embryos biopsied by PGD for translocations, 321 (90. 7% ) presented fluorescence in situ hybridization (FISH) results. The rate of normal/balanced embryos in the Robertsonian translocation was 38. 3% (64/167),which was significantly higher than 20. 8% (32/154) in the reciprocal translocation group. Amplification was achieved in 443 blastomeres from 537 embryos in Thalassaemia group, which given to an amplification efficiency rate of 82. 5% ( 443/537 ). Totally, 140 normal homozygous, 112 heterozygotes and 155 affected homozygous embryos were identified, while 36 embryos had uncertain result. The successful diagnostic rate was 75.8% (407/537). After 3 days in the translocation groups, the rate of normal and/or balanced translocations in biopsed embryos with ≥7 cells was 34. 4% (77/224), which was significantly higher than 19. 6% ( 19/97 ) of biopsed embryos with ＜ 7 cells. After 4 days, the compaction rate in normal/balanced embryos was 59.4% ( 57/96 ), which was significantly higher than 34. 2% ( 77/225 ) in imbalanced embryos significantly. Seventy-five embryos transferred in 37 cycles with translocations group led to clinical pregnancy rate of 27.0% (10/37), and 170 embryos transferred in 58 cycles with Thalassaemia got a clinical pregnancy rate of 43. 1% ( 25/58 ) . Conclusions PGD can provide management efficiently for both chromosome translocations and Thalassaemia. Translocations might have slightly negative impact on embryo development before implantation.