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目的:对高龄孕妇孕中期行胎儿细胞遗传学研究,并探讨其临床效应。方法:采用羊水细胞培养,应用G、C和Nor带分析确定染色体核型以及不同高龄组的异常染色体检出率。结果:2624例高龄(年龄≥35岁)孕妇羊水细胞培养中,发现胎儿染色体异常核型157例,异常发生率5.98%(157/2624)。共检出有临床意义组的染色体异常48例,发生率为1.87%(48/2624);没有临床意义组的染色体异常109例,发生率为4.11%(108/2624)。其中三体征39例(35岁～40岁年龄组28例,异常率1.16%;40岁以上年龄组11例异常率5.29%),经统计学分析两组之间差异有统计学意义(χ2=40.86,P<0.01)。结论:高龄孕妇所孕胎儿发生染色体异常率高;40岁以上孕妇尤为突显;高龄孕妇应加强产前诊断意识。
OBJECTIVE: To study fetal cytogenetics in the second trimester of pregnant women and discuss its clinical effect. Methods: Amniotic fluid cell culture was used to determine the chromosomal karyotype and the detection rate of abnormal chromosomes in different age groups by G, C and Nor bands. Results: In a sample of 2624 elderly (aged 35 years or older) pregnant women with amniotic fluid cell culture, 157 cases were found abnormal fetal karyotype, the abnormal incidence rate was 5.98% (157/2624). A total of 48 cases of chromosomal abnormalities were detected in the clinically significant group (1.87%, 48/2624). There were 109 cases of chromosomal abnormalities without clinical significance (4.11%, 108/2624). Among them, 39 cases were trismus (28 cases in 35- 40 years old group, abnormal rate was 1.16%; 11 cases in 40-year-old group was abnormal rate was 5.29%), and the difference was statistically significant between the two groups (χ2 = 40.86, P <0.01). Conclusion: The rate of chromosomal abnormalities in the pregnant fetus of the elder pregnant women is high; the pregnant women over the age of 40 are especially prominent; the pregnant women of the advanced age should strengthen the consciousness of prenatal diagnosis.