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本文分析了外周血、产前诊断的羊水、绒毛细胞染色体共２５０１例，共检出染色体异常核型１８０例，总异常率为７．２％，其中外周血染色体分析了２０８３例，检出异常核型１５８例，异常率７．５％；羊水细胞染色体分析３５２例，检出异常核型１３例，异常率为３．７％；绒毛细胞染色体分析１６４例，检出异常核型９例，异常率为５．４％，其中有两种核型经有关专家已鉴定为世界首报，并对发现的染色体异常患者进行监测，以此为再孕产前诊断提供临床和实验室依据。
This paper analyzes the peripheral blood, prenatal diagnosis of amniotic fluid, villi chromosomes a total of 2501 cases, detected a total of 180 cases of chromosomal abnormalities karyotype, the total abnormal rate was 7.2%, of which 2083 cases of peripheral blood chromosomes were detected abnormalities Karyotype of 158 cases, abnormal rate of 7.5%; amniotic fluid cell chromosome analysis of 352 cases, 13 cases were detected abnormal karyotype, the abnormal rate was 3.7%; villus chromosome analysis of 164 cases, 9 cases of abnormal karyotype detected, The abnormal rate was 5.4%, of which two karyotypes had been identified as the world’s first reported by the relevant experts and the detected chromosomal abnormalities were monitored in order to provide clinical and laboratory evidence for prenatal diagnosis.