【摘要】 目的:探讨高龄孕妇染色体异常与产前筛查相关因素的关系。以期减少高龄孕妇介入性产前诊断的几率,避免医源性流产,为遗传咨询与产前诊断提供资料。方法:回顾分析施行产前胎儿或分娩后新生儿染色体检查的705名高龄孕妇,分为直接接受介入性产前诊断组及接受产前筛查组,并比较其异常染色体核型的检出率。接受产前筛查组分为母体血清学筛查高风险孕妇组(A组,n=93)、产前超声筛查高风险孕妇组(B组,n=70)和母体血清学筛查高风险并产前超声筛查高风险孕妇组(C组,n=215),比较各组胎儿(或新生儿)的异常染色体核型的检出率。结果:705例高龄孕妇中检出胎儿异常染色体核型37例,胎儿染色体异常率为5.24%。A组检出染色体异常率为2.15%(2/93),B组检出染色体异常率为1.42%(1/70),均明显低于C组(14.41%,31/215,P<0.01)。其中各种筛查低风险的高龄孕妇中无一例发现胎儿异常染色体。结论:对高龄孕妇进行产前筛查,包括母体血清学筛查及产前超声筛查能显著提高胎儿异常染色体的检出率。单纯年龄因素异常染色体的检出率低。更多还原

【Abstract】 Objective: To explore the relationship between chromosomal abnormality of advanced maternal age pregnant women and related factors of prenatal screening,in order to reduce the probability of invasive prenatal diagnosis among advanced maternal age pregnant women,avoid iatrogenic abortion and provide information for genetic counseling and prenatal diagnosis. Methods: A total of 705 advanced maternal age pregnant women undergoing prenatal fetal chromosome examination or neonatal chromosome examination after delivery were analyzed retrospectively,then they were divided into direct invasive prenatal diagnosis group and prenatal diagnosis group; the detection rates ofchromosomal abnormality karyotype in the two groups were compared; the pregnant women in prenatal screening group were divided into group A( 93 pregnant women with high risk of maternal serological screening),group B( 70 pregnant women with high risk of prenatal ultrasonic screening) and group C( 215 pregnant women with high risk of maternal serological screening combined with prenatal ultrasonic screening); the detection rates of chromosomal abnormality karyotype in the three groups were compared. Results: Among 705 pregnant women,37 pregnant women were found with fetal chromosomal abnormality karyotype,the incidence rate was 5. 24%; the detection rates of chromosomal abnormality karyotype in group A and group B were 2. 15%( 2 /93) and 1. 42%( 1 /70),respectively,which were statistically significantly lower than that in group C( 14. 41%,31 /215)( P < 0. 01); among the pregnant women with low risk of screening,no fetus was found with chromosomal abnormality karyotype. Conclusion: Prenatal screening,including maternal serological screening and prenatal ultrasonic screening,can significantly improve the detection rate of fetal chromosomal abnormality; the detection rate of simple age factor chromosomal abnormality is low.更多还原