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荧光原位杂交技术在胚胎植入前性别诊断中的应用 |
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徐艳文 庄广伦 李满 舒益民 周灿权 张敏芳
【摘要】 目的 探讨荧光原位杂交技术在人类胚胎植入前性别诊断中的应用价值。方法 对2例甲型血友病基因携带者和2例Y染色体异常的患者进行了5个周期的超排卵治疗，胚胎活检后取单个细胞进行固定，然后用荧光原位杂交技术检测胚胎的性别，最后选择女性胚胎移植入子宫腔。结果 4例患者5个治疗周期共取卵110个，受精率为68.2%，可供活检的胚胎55个，活检成功率为85.5%，活检后继续分裂率为61.7%，活检细胞固定率为97.9%，共诊断出18个女性胚胎，移植了16个，获得1例生化妊娠和2例临床妊娠，并分别在羊水细胞和减胎组织中证实了其诊断的准确性。结论 荧光原位杂交技术用于遗传病的植入前诊断准确、有效。对血友病等进行植入前性别诊断，可以避免选择性流产和重型患儿的出生。
【关键词】 植入前诊断；原位杂交,荧光； 性决定（分析）
Detecting Embryo Sex by Fluorescence In-situ Hybridization in Preimplantation Genetic Diagnosis
XU Yanwen, ZHUANG Guanglun, LI Man, et al.
（Reproductive Medical Research Center, Department of Obstetric and Gynecology, First Affiliated Hospital of Sun Yat-sen University of Medical Sciences, Guangzhou 510080， China）
【Abstract】 Objective Applying fluorescence in situ hybridization(FISH) in preimplantation gender diagnosis. Methods Ovarian hyperstimulation was performed in 2 hemophilia A carriers and 2 patients with Y chromosome abnormality. Embryo sex was identified by single blastomere FISH after embryo biopsy. Female embryos were transferred into uterus. Results A total of 110 cumulus-oocyte complex were retrieved in 5 treatment cycles. Among them, 68.2% showed normal fertilized pronuclei and 55 embryos were available for embryo biopsy. The success rate of biopsy was 85.5%, with further cleavage rate of 61.7%. In FISH procedure, one cell was lost during fixation, led to 97.9% fixation rate. Totally, 18 female embryos were diagnosed and 16 were transferred into uterus. Two clinical and one biochemical pregnancies were achieved. The diagnosis was confirmed by the following analysis of amniocyte and embryonic buds after embryo reduction respectively. Conclusions FISH is an efficient and accurate technique for determination of the sex of human preimplantation embryos. Selective abortion and birth of affected child can be avoided by preimplantation gender diagnosis.
【Key words】 Preimplantation diagnosi[1] [2] 下一页
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