羊膜腔穿刺与脐静脉穿刺的产前诊断指征分析

目的探讨羊膜腔穿刺及脐静脉穿在产前诊断中的应用指征差异。方法收集2010年5月至2012年5月共2052例羊膜腔穿刺和195例脐静脉穿刺进行胎儿染色体检查的产前诊断病历，分析其产前诊断指征及产前诊断结果。结果羊膜腔穿刺主要产前诊断指征为血清学筛查阳性，占75．O％；高龄孕妇，占16．0％；胎儿超声检查异常，占4．5％；其它原因占4．5％；检出率最高的指征为胎儿超声检查异常。羊膜腔穿刺共检出75例染色体异常胎儿，其中非整倍体为51例（68．0％），染色体结构异常24例（32．0％）。脐静脉穿刺的主要指征为胎儿超声检查异常，占55．4％；血清学筛查阳性，占25．6％，高龄孕妇，占14．4％；；其他原因占4．6％；检出率最高的指征为胎儿超声检查异常。脐静脉穿刺共检出22例染色体异常胎儿，其中非整倍体为20例（90．9％），染色体结构异常2例（9．1％）。结论羊膜腔穿刺的主要指征是血清学筛查高风险，脐静脉穿刺指征主要是胎儿超声异常。临床上应根据孕妇不同的适应症及孕周大小，选择最合适的产前诊断技术。

Analyses of the indications of amniocentesis and cordocentesis in prenatal diagnosis

Objective： To investigate the indications of prenatal diagnosis with amniocentesis and cordocentesis. Methods： Data were collected between May 2010 and May 2012 from 2052 cases of amniocenteses and 195 cases of cordocentesis to review the indica- tions and cytogenetic results. Results： The indications for amniocentesis were positive serum screening （75.0%）, advanced maternal age （ 16. 0% ）, abnormal fetal scan （4. 5% ）, and others （4. 5% ）, respectively. Chromosome aberrations were detected in 75 cases, including 51 aneuploidies （68.0%） and 24 structural abnormalities （32. 0% ）. The indications for cordocentesis were abnormal fetal scan （55.4%）, positive serum screening （25.6%）, advanced maternal age （ 14. 4% ）, and others （4. 6% ）, respectively. Chromo- some aberrations were detected in 22 cases, including 20 aneuploidies （90. 9% ） and 2 structural abnormalities （9. 1% ）. The highest detection rate of chromosome aberrations was in cases for abnormal ultrasound findings （ 16. 3% ） in both amniocentesis and cordocen- tesis. Conclusion： The main indication was positive serum screening in amniocentesis, whereas was abnormal fetal scan in cordocente- sis. These should be addressed in clinical practice in choice of prenatal invasive procedures.