CAJ | 학술논문

目的交信号和1个Y染色体杂交信号者,则诊断为整倍体胚胎;异常杂交信号的胚胎则诊断为非整倍体胚胎.结果 (1)11个平衡易位的PGD周期中,选出杂交信号完整的130个细胞核进行分析,FISH共分析了937个荧光杂交信号,其中整倍体细胞核38个,共有304个杂交信号;其余92个为非整倍体细胞核.(2)在92个非整倍体细胞核中,Ⅰ、Ⅱ及Ⅲ级胚胎的比例分别为20个(22%)、36个(39%)及36个(39%);38个整倍体细胞核中,Ⅰ、Ⅱ及Ⅲ级胚胎的比例分别为13个(34%)、17个(45%)及8个(21%),两者的Ⅰ、Ⅱ及Ⅲ级胚胎数分别比较,差异均无统计学意义(P＞0.05).虽然染色体整倍体率在不同级别胚胎中的分布比较,差异均无统计学意义(P＞0.05),但优质胚胎(Ⅰ级+Ⅱ级)中非整倍体率仍为60%(56/92).(3)平衡胚胎来源的卵裂球细胞核整倍体率(71.4%,30/42)明显高于非平衡胚胎来源的卵裂球细胞核整倍体率(9.1%,8/88),两者比较,差异有统计学意义(P＜0.05).平衡胚胎来源的卵裂球细胞核非整倍体率(包括三体、单体、复杂非整倍体、单倍体、多倍体)明显低于非平衡胚胎来源的卵裂球细胞核非整倍体率(P＜0.05).结论平衡易位携带者的胚胎中有较高的非整倍体率,因此,胚胎非整倍体筛查在平衡易位携带者的PGD中有重要价值和临床意义.
목적 교신호화1개Y염색체잡교신호자,칙진단위정배체배태;이상잡교신호적배태칙진단위비정배체배태.결과 (1)11개평형역위적PGD주기중,선출잡교신호완정적130개세포핵진행분석,FISH공분석료937개형광잡교신호,기중정배체세포핵38개,공유304개잡교신호;기여92개위비정배체세포핵.(2)재92개비정배체세포핵중,Ⅰ、Ⅱ급Ⅲ급배태적비례분별위20개(22%)、36개(39%)급36개(39%);38개정배체세포핵중,Ⅰ、Ⅱ급Ⅲ급배태적비례분별위13개(34%)、17개(45%)급8개(21%),량자적Ⅰ、Ⅱ급Ⅲ급배태수분별비교,차이균무통계학의의(P＞0.05).수연염색체정배체솔재불동급별배태중적분포비교,차이균무통계학의의(P＞0.05),단우질배태(Ⅰ급+Ⅱ급)중비정배체솔잉위60%(56/92).(3)평형배태래원적란렬구세포핵정배체솔(71.4%,30/42)명현고우비평형배태래원적란렬구세포핵정배체솔(9.1%,8/88),량자비교,차이유통계학의의(P＜0.05).평형배태래원적란렬구세포핵비정배체솔(포괄삼체、단체、복잡비정배체、단배체、다배체)명현저우비평형배태래원적란렬구세포핵비정배체솔(P＜0.05).결론 평형역위휴대자적배태중유교고적비정배체솔,인차,배태비정배체사사재평형역위휴대자적PGD중유중요개치화림상의의.
Objective To determine the importance of aneuploidy screening in preimplantation genetic diagnosis for the couples of chromosome translocation carriers. Methods To perform 11 prenatal genetic disgnosis (PGD) cycles for 7 couples of chromosome translocation carriers from January 2006 to March 2009 in the Reproductive Medical Center, First Affiliated Hospital of Zhengzhou University. To re-analyze the well-fixed, non-multinuclear and non-debris nuclei using the probes of LSI 13, 18, 21,CEPX, CEPY to detect the aneuploidy rate which come from the PGD cycles of the couples of chromosome translocation carriers. The euploid embryo was defined as two fluorescence in situ hybridization (FISH)signals of LSI 13, 18, 21 respectively and two signals of CEPX, or one signal of CEPX and one signal of CEPY. The other abnormal signals were defined as aneuploid embryo. Results (1) A tolal of 130 nuclei from 11 PGD cycles got the integrated re-FISH signals. Nine hundred and thirty-seven FISH signals were analysized, including 304 signals from 38 euploid nuclei and the others from 92 aneuploid nuclei. (2) The number of the aneuploid nuclei from grade Ⅰ , Ⅱ and Ⅲ embryo was 20 (22%), 36(39%), and 36(39%). The number of the euploid nuclei from grade Ⅰ , Ⅱ and Ⅲ embryo was 13(34%), 17(45%),and 8(21%). There was no significant difference of aneupioidy rate between the embryos form different grades (P＞0.05). However, the rate of aneuploid nucleus from good quality embryos (grade Ⅰ + grade Ⅱ) was 60% (59/92). (3) The euploidy rate was 71.4% (30/42) from balanced embryos, while 9.1%(8/88)from unbalanced embryos. There was significant difference between them (x2=53.4, P＜0.05).The rate of aneuploidy from balanced embryos was lower than those from unbalanced embryos (P＜0.05).Conclusions Since higher rate of aneuploidy was detected in embryos of the couples of chromosome translocation carriers. It is advisable to recommend the FISH re-analysis for aneuploidy screening to preimplantation genetic diagnosis for the couples of chromosome translocation carriers.