胚胎植入前遗传学诊断
[Preimplantation genetic diagnosis].
作者信息
Meng Xiangge, Zhang Lihong, Dong Yunling, Li Juan, Wang Kehua, Jiang Ping, Zhnag Meixin, Xu Yumei
机构信息
Reproductive Medical Research Center, Shandong Institute for Family Planning, Jinan 250002, China.
出版信息
Zhonghua Fu Chan Ke Za Zhi. 2002 Nov;37(11):676-8.
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.
目的
评估荧光原位杂交技术（FISH）在对有较高遗传疾病风险的夫妇进行植入前基因诊断（PGD）中的临床效果。
方法
对4例患者进行超促排卵、取卵及体外受精。在胚胎6-8细胞期进行卵裂球活检。通过单细胞FISH进行基因诊断。将女性胚胎或正常胚胎移植入子宫。
结果
有12个胚胎可供胚胎活检。采集了20个细胞。固定后发现17个细胞核。11个胚胎的杂交信号清晰，8个胚胎被移植入子宫。获得1例临床妊娠，并于2001年9月14日分娩1名正常女婴。
结论
通过FISH检测胚胎性别和染色体数目，PGD对于避免有较高遗传疾病风险的夫妇选择性流产和生育患病儿童具有重要价值。
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