4636例高龄孕妇羊水细胞染色体分析

目的探讨高龄孕妇（≥35岁）与胎儿染色体异常的关系。方法通过对4636例高龄孕妇羊水染色体结果进行回顾性分析，计算胎儿染色体异常的发生率，对比35-37岁、38-40岁和≥41岁3组孕妇胎儿染色体异常发生率。结果4636例高龄孕妇发现胎儿染色体核型异常174例，染色体异常发生率为37．53‰，包括136例非整倍体（含嵌合体）和38例染色体结构异常。非整倍体包括77例47，＋21（16．61‰，77／4636）、26例47，＋18（5．61‰，26／4636）、2例47，＋13（0．43‰，2／4636）、8例47，＋mar（1．73‰，8／4636）、20例性染色体非整倍体（4．31‰，20／4636）。在35-37岁孕妇中胎儿染色体异常发生率为28．76‰（67／2330），在38～40岁孕妇中胎儿染色体异常发生率为42．50‰（70／1647），在≥41岁孕妇中胎儿染色体异常发生率为56．15‰（37／659），差异有统计学意义（P〈O．05）。结论随着孕妇年龄增长，胎儿染色体异常风险增高，高龄孕妇有必要行产前诊断。

Amniotic fluid karyotyping analysis of 4636 women of advanced maternal age.

Objective： To discuss the relationship between the fetal chromosomal abnormalities and women who were 3 5 or older. Methods： The Amniotic fluid karyotyping results in 4636women of advanced maternal age were retrospectively analyzed to calculate the incidence of fetal chromosomal abnormalities. The 4636 cases Were divided into three groups according to maternal age ie.35-37, 38-40 and≥41 year old group, the incidence of fetal chromosomal abnormalities were calculated and compared between the three groups by Chi-square test. Results： Altogether, 174 cases were diagnosed to be abnormal Chromosome from the 4636 cases, and the overall incidence was 37.53‰ （174/4636） .The abnormal karyotypes included 136 cases of aneuploidies （mosaicism included） and 38 cases of structural abnormalities.The aneuploidies included 77 cases of 47, ＋21 （16.61‰, 77/4636） , 26 cases of 47, ＋18 （5.61‰, 26/4636） , 2 cases of 47, ＋13 （0.43‰, 2/4636） , 28cases of 47, ＋mar （1.73‰, 8/4636） and 20 cases of sex aneuploidies （4.31‰, 20/4636） .The incidence of fetal chromosomal abnormalities was significantly higher in ≥41 year-old group than that of 38-40year-old group and 35-37 year-old group （P〈0.05） . Conclusion： Risk of fetal chromosome abnormalities is higher in advanced pregnant women, appropriate techniques shuold be used to screen fetal chromosomes during different gestation weeks in advanced pregnant women.