孕中 晚期胎儿羊水及脐血染色体检查的临床应用

Clinical application of fetal chromosomal Karyotypes during the second and third trimester of gestation

目的:分析孕中、晚期胎儿羊水及脐血染色体核型。了解此期异常核型发生的频率、类型及与各种产前诊断指征的关系。方法:对119例孕中、晚期孕妇行羊膜腔穿刺术或脐带穿刺术,抽取羊水或脐血检查胎儿染色体。结果:发现异常核型8例,异常率为6.72%。常见核型为三体型,占异常核型50.00%;其次为染色体易位,占25.00%。结论:在有各种产前诊断指征的孕中、晚期孕妇中,胎儿染色体异常发生率为6.72%,染色体三体为主要的异常核型。孕中、晚期B超检查作为产前常规筛查可提高胎儿染色体异常的检出率。

Objective:Through analyzing the fetal chromosomal karyotypes in amniotic fluid and cord blood to investigate the relationship between abnormal karyotypes and indications of prenatal diagnosis.Methods:Amniocentesis and cordocentesis were performed in 119 pregnant women and fetal chromosomal karyotypes were examined in amniotic fluid and cord blood.Results:8 abnormal chromosomal karyotypes were detected and the abnormal rate was 6.72%(8/119.Trisomy was the leading abnormality which was 4 out of 8 (50%). Chromosomal translocation was in the second place which was 2 out of 8(25%.Conclusion:Among pregnant women in the second and third trimester with different indications of prenatal diagnosis, the rate of fetal chromosomal abnormality was 6.72%. The most common abnormality was trisomy. Ultrasound examination as prenatal routine examination can increase the antenatal detective rate of fetal chromosomal abnormality.