293例羊膜腔穿刺产前诊断孕中期胎儿染色体异常的研究

目的探讨羊膜腔穿刺产前诊断胎儿染色体异常的临床应用价值。方法在超声引导下,对293例有产前诊断指征的孕妇经腹抽取适量羊水,细胞培养,染色体核型分析,同时,对不同产前诊断指征组染色体异常的检出率进行比较。结果 293例均穿刺成功,培养成功287例(成功率97.95%),染色体异常检出15例(检出率5.1%);其中不良孕产史组染色体异常检出率(24.0%)明显高于唐氏高风险组(2.3%)及高龄组(3.80%)(P<0.05);超声显示胎儿结构异常组检出率(13.33%)亦明显高于唐氏高风险组(2.3%)(P<0.05)。结论羊膜腔穿刺产前诊断胎儿染色体异常是安全、有效的方法,能够减少出生缺陷;不良孕产史、超声示胎儿结构异常、孕妇血清学筛查及高龄均为有效的产前诊断指征,而不良孕产史及超声示胎儿结构异常更有预测价值。

Study on the application of the percutaneous ultrasound-monitored amniocentesis in the prenatal diagnosis of the fetal chromosomal abnormalities

Objective To evaluate the role of percutaneous ultrasound-monitored amniocentesis in the prenatal diagnosis of the fetal chromosomal abnormalities. Methods Percutaneous ultrasound-monitorel amniocentesis was performed on 293 pregnant women with in dications for prenatal diagnosis to detect karyotype of the fetus. The detection rate of the chormosonal abnormality was compared in different groups. Results All the cases were punctured successfully. The archievement rate of the aminiotic fluid was 97.95%,and the detection rate of the chromosomal abnormality was 5.1%. The detection rate of the history of abnormal deliveries（24.0%） was higher than the trisomy 21 high rish group （2.3%） and the advanced pregnant women group （3.80%）（P 〈0.05）. The detection rate of the chromosomal abnormality of the abnomal fetus detected by uhrasound（13.33%） was higher than the trisomy 21 high rish group（2.3%）（P 〈0.05）. Conclusion The percutaneous ultrasound-monitored amniocententesis proves to the be valid in the prenatal diagnosis. The valid indications of the puncture include the history of abnormal deliveries, the abnormal fetus detected by ultrasound, the abnormal serology screening results of pregnant women and the advanced pregnant women. The history of abnormal deliveries and ultra sound detection of the abnormal fetus have better predictability to the prenatal diagnosis of fetal chromosomal abnormality.