Wu Yueh-Chao, Chen Chun-Kai, Huang Hong-Yuan, Chou Chi-Ju, Soong Yung-Kuei
Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Taipei, Taiwan.
J Formos Med Assoc. 2004 Aug;103(8):637-9.
Preimplantation genetic diagnosis (PGD) is an alternative option for couples with chromosome abnormalities. A 34-year-old woman with balanced Robertsonian translocation [(45, XX, der(13; 14)(q10; q10)] requested PGD due to recurrent spontaneous abortion. Embryos of good quality were biopsied on day 3 post-oocyte retrieval. The aspirated blastomeres were fixed and analyzed using fluorescence in situ hybridization. In the first cycle, 2 unaffected embryos were transferred back without success. No unaffected embryo was available in the second cycle. On day 5 in the third cycle, 2 unaffected embryos were transferred resulting in a twin pregnancy. Amniocentesis confirmed the diagnosis. At the gestational age of 35 weeks, 2 healthy girls were born via cesarean section. Postnatal physical examination found no evidence of major abnormalities.
胚胎植入前遗传学诊断（PGD）是染色体异常夫妇的一种替代选择。一名34岁患有平衡罗伯逊易位[（45，XX，der（13；14）（q10；q10）]的女性因反复自然流产而要求进行PGD。在取卵后第3天对优质胚胎进行活检。吸出的卵裂球经固定后，采用荧光原位杂交技术进行分析。在第一个周期，移植了2个未受影响的胚胎，但未成功。第二个周期没有未受影响的胚胎。在第三个周期的第5天，移植了2个未受影响的胚胎，结果双胎妊娠。羊膜穿刺术确诊。孕35周时，通过剖宫产分娩出2名健康女婴。产后体格检查未发现重大异常迹象。
