摘要： 总结本室优生遗传咨询门诊万例病例资料，应用细胞学方法、荧光原位杂交法和分子遗传学PCR方法检出外周血染色体异常率10.30%（555/5390），产前诊断核型异常率为6.68%（145/2171），胎停育绒毛核型异常率45.16%（28/62），总检出率为9.55%；PCR检测178例，正常人155例，患者23例；FISH结果：性别Y检测5例，21-三体征检测6例，均阳性。传统细胞学方法为染色体病诊断不可替代的重要手段；分子遗传学PCR方法及FISH检测方便、快速、精确，值得推广；遗传咨询，遗传病检测及产前诊断，对降低患儿出生率具有重大意义。
Clinical Research of Genetic Counseling
WANG Shu-yu,WANG Su-gui,REN Guo-qing，JIA Chan-wei，MA Yan-min，XUE Hong
Capital Medical University Beijing OB/GYN Hospital,Beijing 100006,China
Abstract:To supply reliable materials for the assessment of recurrence risk,prenatal diagnosis and the supervision of high risk persons,we analyzed 10811 patients with the methods of cytogenetics,fluorescent in situ hybridization and molecular genetic PCR methods.The result of cytogenetics:there were 555 abnormal karyotypes of peripheral blood on 5390 cases (10.30%);In 2171 patients who asked for prenatal diagnosis,145 abnormal karyotypes were found (6.68%);We also karyotyped chorionic villous cells of 62 patients with spontaneous abortion and found 28 abnormal karyotypes (45.16%).The PCR results of 23 patients with Down's syndrome were all positive while the results of 155 normal persons were all negative.The method of cytogenetics is very important for diagnosis of abnormal karyotypes;Molecular genetic methods by PCR and FISH are quick,convenient and applicable way.
Key words：genetic counseling; prenatal diagnosis; karyotypes abnormal; molecular genetics

关键词: 染色体异常, 分子遗传学, 产前诊断, 遗传咨询