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目的以金标准细胞遗传学染色体核型分析方法为对照,研究应用21、13、18号,X及Y染色体探针检测染色体非整倍体异常;进一步探讨分子细胞遗传学方法产前诊断染色体非整倍体的应用价值。方法应用细胞遗传学方法,常规羊水细胞培养,制备G染带染色体核型,计数分析20个细胞,分析3个分裂期染色体核型,必要时计数100个细胞核型。应用13,18,21,X,Y探针,进行未培养羊水的FISH检测。结果通过Logistic回归分析学历、民族、自然流产次数、产次、孕周以及不同产前诊断指征对染色体结果的影响,以确定造成染色体非整倍体的高危因素。结果表明自然流产次数和超声异常与染色体非整倍体有关(P_1<0.0001,P_2=0.054)。自然流产次数的优势比为1.423;超声异常的优势比为4.728。通过最佳操作点判定,表明年龄≥33.5岁为染色体非整倍体高发年龄。
Objective To detect chromosome aneuploidy abnormalities by using 21, 18, 18 and X and Y chromosome probes based on the gold standard cytogenetics karyotype analysis. To further explore the molecular cytogenetics method for prenatal diagnosis of chromosomal abnormalities Euploid application value. Methods Cytogenetics and routine amniotic fluid cell culture were used to prepare G-banding chromosome karyotypes. Twenty chromosomes were counted and analyzed. Three karyotypes of chromosomes were analyzed, and 100 karyotypes were counted when necessary. FISH detection of uncultured amniotic fluid was performed using 13, 18, 21, X, Y probes. Results Logistic regression analysis of education, ethnicity, number of spontaneous abortion, parity, gestational age and different prenatal diagnosis of chromosomal results, in order to determine the risk factors causing chromosome aneuploidy. The results showed that the frequency of spontaneous abortion and ultrasound abnormalities were related to aneuploidy (P 1 <0.0001, P 2 = 0.054). The odds ratio for spontaneous abortion was 1.423; the odds ratio for ultrasound abnormalities was 4.728. Judged by the best operating point, indicating that the age ≥ 33.5 years of age for aneuploidy.