介入超声技术在产前诊断胎儿染色体异常中的应用研究

目的评价介入超声技术在产前诊断胎儿染色体异常中的应用。方法对186例有产前诊断指征的孕妇在超声引导下经腹羊膜腔穿刺抽取羊水及脐静脉穿刺抽取脐血检查染色体核型。结果全部病例均穿刺成功，其中超声引导下经腹羊膜腔穿刺抽取羊水105例，羊水细胞培养成功率97．1％，染色体异常检出率8．8％；脐静脉穿刺抽取脐血81例，脐血细胞培养成功率98．8％，染色体异常检出率5．0％。羊水及脐血两组染色体异常的检出率无显著差异。孕妇血清学筛查异常、不良孕产史、21-三体分娩史、超声提示胎儿异常是有效的穿刺指征，有助于染色体异常的胎儿检出，其中超声提示胎儿异常组染色体异常检出率显著高于其他组。结论超声引导下介入穿刺术在产前诊断中是成熟有效的操作技术，胎儿异常的超声监测有助于产前提示胎儿染色体异常。

Application of interventional ultrasound to prenatal diagnosis of fetal chromosomal abnormalities

Objective To evaluate the role of interventional ultrasound technique in prenatal diagnosis of fetal chromosomal abnormalities. Methods Percutaneous ultrasound-monitored amniocentesis and cordocentesis were performed on 186 pregnant women with indicantions for prenatal diagnosis to detect karyotype of the fetus. Results All the cases were punctured successfully. Percutaneous ultrasound-monitored amniocentesis was performed in 105 pregnant women. The archievement rate of the aminiotic fluid was 97. 1% ,and the detection rate of the chromosomal abnormality was 8.8%. Percutaneous ultrasound-monitored cordocentesis were performed in 81 pregnant women. The archievement rate of the cord blood was 98.8%, and the detection rate of the chromosomal abnormality was 5.0%. There was no significant deviation between them. The valid indications of the puncture included the abnormal serology screening results of pregnant women,the history of abnormal deliveries, the history of the trisomy 21 ,and the abnormal fetus detected by ultrasound,the last of which was higher than the other indications at the detection of the chromosomal abnormality. Conclusions Interventional ultrasound technique proves to be valid in the prenatal diagnosis, and ultrasound detection of abnormal fetus indicates the possibility of the fetal chromosomal abnormality.