植入前遗传学诊断四例临床分析

目的 探讨对遗传病高危夫妇采用单细胞荧光原位杂交（FISH）进行胚胎植入前遗传学诊断（PGD）的临床价值。方法 对曾生育过遗传病患儿的4对夫妇通过超排卵获得卵子,体外受精,体外培养至6-8细胞胚胎,每个胚胎取1-2个细胞,采用FISH进行遗传学分析。筛选无遗传病发病风险的胚胎移植入子宫。结果 4例患者共进行4个治疗周期,获得可供活检的胚胎12个,活检细胞20个,固定后有核细胞17个,FISH后除2个细胞无杂交信号外,其余杂交信号清楚,结果明确,活检后的12个胚胎继续发育,结合遗传学诊断,8个胚胎可供移植,其中1例妊娠,于2001年9月14日足月剖宫产分娩一女婴,发育正常,体重4270g,出生后染色体检查为正常女性核型。结论 对遗传病高危夫妇采用FISH技术进行PGD具有临床应用价值。

Preimplantation genetic diagnosis

Objective To evaluate the clinical effectiveness of preimplantation genetic diagnosis (PGD) for the couples having a higher risk of genetic diseases with fluorescence in situ hybridization (FISH) Methods Ovarian hyperstimulation, oocyte retrieval and in vitro fertilization were performed in 4 cases Blastomere biopsy were performed from the embryos at the 6 8 cell stage Genetic diagnosis was identified by single blastomere FISH The female embryos or normal embryos were transferred into uterus Results Twelve embryos were available for embryo biopsy Twenty cells were collected Seventeen nuclei were found after fixation Hybridization signals of 11 embryos were clear and 8 embryos were transferred into uterus One clinical pregnancy was achieved, and 1 normal female infant was delivered on september 14, 2001 Conclusion PGD is very valuable for avoiding selective abortion and birth of affected child of the couples having a higher risk of genetic diseases by detecting embryo sex and chromosome number using FISH