国际生殖健康/计划生育杂志

国际生殖健康/计划生育 ›› 2015, Vol. 34 ›› Issue (4): 324-327.

• 综述 • 上一篇    下一篇

染色体易位携带者胚胎植入前遗传学诊断进展

张雯珂，徐晓菲，李敏，陈黎，姚元庆   

  1. 100853 北京，解放军总医院妇产科生殖中心
  • 收稿日期:1900-01-01 修回日期:1900-01-01 出版日期:2015-07-15 发布日期:2015-07-15
  • 通讯作者: 姚元庆

Pre-implantation Genetic Diagnosis in Embryos of Translocation Carriers

ZHANG Wen-ke，XU Xiao-fei，LI Min，CHEN Li，YAO Yuan-qing   

  1. Reproductive Center，Department of Obstetrics and Gynecology，Chinese PLA General Hospital，Beijing 100853，China
  • Received:1900-01-01 Revised:1900-01-01 Published:2015-07-15 Online:2015-07-15
  • Contact: YAO Yuan-qing

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摘要： 染色体易位携带者通常无明显表型异常，但却存在生育问题，可发生流产、死产、胎儿畸形及新生儿智力低下。主要原因是在受精卵形成过程中产生非平衡易位胚胎，伴随染色体片段的重复及缺失。染色体易位携带者可通过辅助生殖技术及胚胎植入前遗传学诊断技术鉴别非平衡易位胚胎，将筛选出的正常或平衡易位胚胎进行宫腔内植入，从而避免不良孕产史的发生。介绍染色体易位的概念、分类、发生不良孕产史的机制、相互易位及罗伯逊易位理论上获得正常胚胎的概率，阐述胚胎植入前诊断技术的适应证，综述目前常用的胚胎植入前遗传学诊断技术，包括荧光原位杂交技术（FISH）、光谱核型分析技术（SKY）、比较基因组杂交（CGH）技术、微阵列-比较基因组杂交（aCGH）、单核苷酸多态性（SNP）及新一代测序（NGS）技术的原理、分类、检测范围、优点及局限性，以及这些技术在染色体易位携带者胚胎植入前遗传学诊断中的价值。

关键词: 易位, 遗传, 植入前诊断, 非整倍性

Abstract: Translocation carriers usually had normal phenotype, but they generally had abnormal pregnancy history, such as abortion, dead-birth, fetal anomaly and hypophrenia mainly due to those embryos with the unbalanced translocation and the deletion or repetition of chromosome fragment（ｓ） which generated during the fertilization. Normal and/or balanced embryos can be selected for transfer by ART and PGD for those translocation carriers to prevent the abnormal pregnancy. This review introduced the conception, classification and indication of PGD, the probability of reciprocal translocation carriers and Robertsonian translocation carriers to get a normal baby. The principles, advantages and disadvantages, and practical issues and value of common PGD techniques for those translocation carriers were also discussed, including FISH, SKY, CGH, aCGH, SNP and NGS.

Key words: Translocation, genetic, Preimplantation diagnosis, Aneuploidy