Hanson C, Jakobsson A H, Sjögren A, Lundin K, Nilsson L, Wahlström J, Hardarson T, Stevic J, Darnfors C, Janson P O, Wikland M, Hamberger L
Department of Obstetrics and Gynecology, Sahlgrenska University Hospital and Fertilitetscentrum, Göteborg, Sweden.
Acta Obstet Gynecol Scand. 2001 Apr;80(4):331-6.
A program for preimplantation genetic diagnosis of pre-embryos from patients with hereditary disorders was set up in our unit at Sahlgrenska University Hospital in 1994. The majority of the patients were carriers of X-chromosome linked disorders; a few patients were translocation carriers. In this paper we describe our experiences of our first 36 cycles, 30 gender determinations and six analyses of embryos with possible translocations.
Conventional hormone replacement treatment with intracytoplasmic sperm injection to fertilize the eggs followed by blastomere biopsy and fluorescent in situ hybridization at the eight cell stage was used for sexing as well as detection of translocations.
Out of the 30 cycles in 13 patients for gender determination, blastomere biopsies could be carried out in 25 cycles. Transfer of normal female embryos (XX) was performed in 18 cycles, resulting in five pregnancies (pregnancy rate 27.8%) and an implantation rate of 20% per transfer. Three girls have been born. Hence the take home baby rate was 16.7% per transfer and 10% per started cycle. Six cycles (three patients) for detection of translocations in embryos were performed. Diagnosis was possible in four cycles. Transfer of normal embryos was carried out in one cycle. No pregnancy was achieved.
Successful PGD in its clinical application demands close collaboration between a large group of specialists. Even so, the success rate is considerably lower than after conventional IVF or ICSI procedures. Taking into account the stress caused to the parents facing late interruption of pregnancy following conventional prenatal diagnosis we are convinced that this technique is well worthwhile continuing and refining.
1994年，我们在瑞典哥德堡大学萨赫尔格伦斯卡大学医院设立了一项针对患有遗传性疾病患者的胚胎植入前基因诊断项目。大多数患者是X染色体连锁疾病的携带者；少数患者是易位携带者。在本文中，我们描述了我们前36个周期的经验，包括30次性别鉴定和6次对可能存在易位的胚胎的分析。
采用常规激素替代治疗，通过卵胞浆内单精子注射使卵子受精，随后在八细胞阶段进行卵裂球活检和荧光原位杂交，用于性别鉴定以及易位检测。
在13例患者进行性别鉴定的30个周期中，25个周期可以进行卵裂球活检。在18个周期中移植了正常女性胚胎（XX），产生了5次妊娠（妊娠率27.8%），每次移植的着床率为20%。已出生3名女孩。因此，每次移植的抱婴率为16.7%，每个开始周期的抱婴率为10%。进行了6个周期（3例患者）以检测胚胎中的易位。4个周期可以进行诊断。在1个周期中移植了正常胚胎。未实现妊娠。
胚胎植入前基因诊断在临床应用中的成功需要一大群专家之间的密切合作。即便如此，成功率仍远低于传统体外受精或卵胞浆内单精子注射程序后的成功率。考虑到传统产前诊断后父母面临妊娠后期中断所带来的压力，我们坚信这项技术非常值得继续开展和完善。
