荧光原位杂交技术在胚胎植入前性别诊断中的应用

目的 探讨荧光原位杂交技术在人光胚胎植入前性别诊断中的应用价值。方法对２例因友病基因携带者和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．

Detecting Embryo Sex by Fluorescence In-situ Hybridization in Preimplantation Genetic Diagnosis

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.