目的:探讨不同年龄段孕妇妊娠中期羊水细胞染色体核型的对比分析。方法:回顾性分析2007年1月~2013年8月在行妊娠中期羊膜腔穿刺术及羊水染色体核型分析的898例不同年龄段孕妇的病历资料。计算染色体发生变异的概率。将不同年龄段孕妇按年龄分成<35岁组,35~39岁组和≥40岁组,比较3组胎儿47,+21、47,+18以及性染色体异常率。结果:胎儿染色体异常者共18例,占样本数的20.0‰(18/898),包括14例非整倍体(含嵌合体)和4例染色体结构异常,其中47,+21最为常见,所占比例为42.9%(6/14),在<35岁组、35~39岁组的发生率分别为4.6‰、5.2‰,较≥40岁孕妇组24.7‰差异显著(P<0.05)。胎儿47,+18和性染色体非整倍体的发生率在3组孕妇中无显著差异。结论:不同年龄段孕妇胎儿染色体异常的发生率不同,高龄孕妇以13、18、21号染色体和性染色体非整倍体变异为主,其中胎儿47,+21的发生率在年龄≥40岁的孕妇人群中显著升高,可直接行羊膜腔穿刺术进行诊断。 OBJECTIVE: To compare the chromosomal karyotypes of amniotic fluid cells in the second trimester of pregnant women of different ages. Methods: The clinical data of 898 pregnant women of different ages who underwent amniocentesis and amniotic fluid karyotype analysis from January 2007 to August 2013 were retrospectively analyzed. Calculate the probability of chromosomal variation. According to age, pregnant women of different ages were divided into groups of 35 years old, 35-39 years old and 40 years old. The incidences of 47, + 21, 47, + 18 and sex chromosome abnormalities in the three groups were compared. Results: There were 18 cases of fetal chromosomal abnormalities, accounting for 20.0 ‰ (18/898), including 14 aneuploidy (including chimeras) and 4 chromosomal abnormalities, of which 47 and + 21 were the most common. Accounting for 42.9% (6/14). In the 35-year-old group, the incidence rates in the 35- to 39-year-old group were 4.6 ‰ and 5.2 ‰, respectively, and were significantly different from those in the 40-year-old pregnant group (24.7 ‰) (P 0. 05). Fetal 47, + 18 and sex chromosome aneuploidy incidence in the three groups of pregnant women no significant difference. Conclusion: The incidence of fetal chromosomal abnormalities in pregnant women of different ages is different. The elderly pregnant women are mainly chromosome 13 and chromosome 21 aneuploidy, including the incidence of fetal 47, + 21 in the age of 40 years of age Significantly increased in the pregnant women population, direct amniocentesis can be diagnosed.