1981例高龄孕妇的产前细胞遗传学诊断

Prenatal cytogenetic diagnosis study of 1981 cases of advanced pregnant women

目的通过高龄孕妇产前胎儿染色体核型结果分析,探讨高龄妊娠胎儿染色体异常的风险。方法通过对高龄孕妇羊水穿刺1807例和脐带血穿刺174例染色体核型分析,探讨高龄妊娠胎儿染色体异常的比率,对比35～37岁、38～40岁、≥41岁三组孕妇胎儿染色体异常发生率,分析不同高龄组胎儿染色体异常的风险比率。结果 1981例高龄孕妇共发现胎儿染色体核型异常61例,染色体异常发生率为3.08%,且随孕妇年龄增长,胎儿染色体异常的发生率显著增高(P<0.01)。结论随着孕妇年龄增长,胎儿染色体异常风险逐渐增高,高龄孕妇有必要行产前诊断。

Objective To analyze the association between fetal chromosome abnormalities and advanced pregnant women during pregnancy,thus to establish prenatal diagnostic standards and increase the detection rate of prenatal fetal chromosome abnormalities.Methods Mid-trimester amniocentesis and late-trimester umbilical cord blood were drawn and fetal chromosomes were analyzed in 1 981 advanced maternal age women.Results Among the 1 981 different prenatal diagnostic samples,there were 61 cases of abnormal karyotypes,and the rate of abnormalities was 3.08%.In advanced pregnant women,the probability of chromosomal abnormalities was increased with their age increasing（P0.01）.Conclusions Risk of fetal chromosome abnormalities is higher in advanced pregnant women,appropriate techniques should be used to screen fetal chromosomes during different gestation weeks in advanced pregnant women.