2052例羊水细胞产前诊断的染色体结果分析

目的探讨孕中期羊膜腔穿刺产前诊断胎儿染色体异常的经验。方法收集、分析孕中期羊水培养核型分析结果资料。主要的产前诊断指征包括高龄、产前血清学筛查高风险、胎儿超声检查异常等。染色体异常包括常染色体非整倍体，性染色体非整倍体及染色体结构异常。结果成功培养羊水细胞2052例，其中指征为高龄孕妇的占16．0％．血清学筛查阳性占75．0％，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。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％）。结论本研究证明了羊水细胞用于诊断染色体异常胎儿的作用，其结果可用于临床遗传咨询。

Analysis of karyotype results in 2052 amniotic samples in the second trimester.

Objective： To investigate the experience of prenatal diagnosis of fetal chromosome aberrations by second - trimester amniocentesis. Methods： Data were collected between 2010 and 2012 from eytogenetic analyses of cultured amniocytes from second - trimester amniocentesis. The main indications for amniocentesis included advanced maternal age, abnormal maternal serum screening results, and abnormal ultrasound findings. Chromosome aberrations included autosomal aneuploidies, sex chromosome aneuploidies, polyploidies, and structural aberrations. Results ： A total of 2052 amniocenteses were performed and analyzed for chromosome aberrations. Among these, 329 （ 16. 0% ） were for advanced maternal age, 1 538 （75.0%） for abnormal maternal serum screening results, 92 （4. 5% ） for abnormal ultrasound findings, and 91 （4. 5% ） for other reasons. The highest detection rate of chromosome aberrations was in cases undergoing amniocentesis for abnormal ultrasound findings 16. 3% ）. Chromosome aberrations were detected in 75 cases （3.7%）. Of fetuses with chromosome aberrations, 51 （68.0%） had trisomy 13, trisomy 18, trisomy 21, or sex chromosome disorder. The other 24cases （32. 0% ） included balanced translocation, unbalanced abnormality, inversion, and marker chromosome. Conclusion： Our data offer a database for proper genetic counseling, such as termination issues and future pregnancies.