B超引导下羊膜腔穿刺术在产前诊断中的应用

目的探讨B超引导下的羊膜腔穿刺术在产前诊断应用中的安全性及羊水细胞染色体核型分析、地中海贫血基因检测在产前诊断中的应用价值。方法选取2009年11月至2011年1月妊娠16～27周在茂名市妇幼保健院行B超引导下羊膜腔穿刺术的孕妇103例，对羊水中胎儿脱落细胞进行培养，做染色体核型分析；夫妇双方同种类型地中海贫血者，行羊水细胞地中海贫血基因检测。结果B超引导下的羊膜腔穿刺术103例，羊水细胞培养成功102例，检出异常核型9例，检出率为8．8％，其中三体综合征1例，占11．1％，其他异常8例，占88．9％；羊水地中海贫血基因检测24例，其中重型地中海贫血5例，占20．8％。结论产前针对有指征的孕妇于中孕期行B超引导下羊膜腔穿刺术，进行羊水细胞培养染色体核型分析及地中海贫血基因检测十分必要，B超引导下羊膜腔穿刺术是目前安全、有效、可靠的介入性产前诊断方法。

The application of ultrasound-guided amniocentesis in prenatal diagnosis

Objective To investigate the safety of B-type ultrasound-guided amniocentesis in prenatal diagnosis, and the values of karyotype analysis of amniocytes and detection of thalassemia gene. Methods 103 women with a gestational age of 16 to 27 weeks who had received ultrasound-guided amniocentesis during November 2009 to January 2011 were included in this study. The amniotic cell culture was performed for chromosomal analysis; For the couples who had the same thalassemia gene, detection of thalassemia gene in amniocytes was performed. Results Amniotic cell culture was successful in 102 of the 103 women. Abnormal karyotype was detectable in 9(8.8%)women, one of whom(11.1%)was 21- trisome and the remaining 8(88.9%)were other abnormal karyotypes. Thalassemia gene was detectable in 24 women, 5 of them(20.8%)had major thalassemia. Conclusions For the pregnant women with abnormal prenatal diagnosis, it is highly necessary to administer ultrasound-guided amniocentesis for karyotype analysis of amniocytes and detection of thalassemia gene. Ultrasound-guided amniocentesis is a safe, effective, reliable, invasive method of prenatal diagnosis.