【摘要】 目的了解太原地区先天异常的诊断情况,寻求降低其出生率的有效方法。方法回顾性分析1994～2004年298例先天异常患者,据其诊断时间将其分为产前诊断组与产后诊断组,并对两组先天异常的类型及诊断方式进行比较。结果仅有24.50%的先天异常在产前得到诊断,75.50%的先天异常在产后才得到诊断;产前诊断的方式以B超为主,只有1例是靠羊水细胞培养得到诊断,其类型主要有神经管畸形、腹壁裂、严重唇腭裂;产后诊断的方式是以临床诊断为主,其次为染色体检查,其类型有泌尿生殖异常、染色体数目异常、唇腭裂等。结论10年中,先天异常的诊断仍以产后诊断为主,要想降低先天异常的出生率,必须开展优生咨询、提高产前诊断水平。更多还原

【Abstract】 Objective To find the effective measures for decreasing the birth rate of congenital abnormalities by analysis of the diagnosis of congenital abnormalities in the past ten years. Methods There were 298 cases of congenital abnormalities.The kinds of congenital abnormalities and the way of diagnosis were analyzed. Results The data revealed that 24.50% and 75.50% of congenital abnormalities were detected in prenatal diagnosis group and postpartum diagnosis group respectively.There was a significant difference in distribution of congenital abnormalities between both groups.The 3 main diseases in prenatal diagnosis group were neural tube defect (NTD),abnormal split and cleft lip.While in postpartum diagnosis group they were reproduction system abnormality,chromosome abnormalities and cleft lip/palate.The way of diagnosis was different for both groups.B ultrasonography mainly for prenatal diagnosis,and karyotype analysis and clinical diagnosis for postpartum diagnosis. Conclusion These indicate prenatal diagnosis and genetic counseling are important to decrease the birth rate of congenital abnormalities.更多还原