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当前在妊娠早期能辨认的遗传病约有100种。通过羊水穿刺及别的诊断方法能鉴别的遗传病数目正在很快增加。一、多伦多医院产前诊断遗传病门诊的基础:1966年Stecle等报道第一例人羊水细胞染色体核型分析成功。1968年Valenti从羊水细胞培养的染色体核型异常,首次在产前诊断了Down氏综合症。1970年该院开始这方面的研究。成立了由妇产科、遗传学、细胞生物学、生化、小儿科、超声波及其他科组成的多科研究组。1971年开始产前遗传诊断门诊。二、临床操作:由产科医生和遗传学家共同检
Currently there are about 100 genetic diseases that can be identified in early pregnancy. The number of genetic diseases that can be identified by amniocentesis and other diagnostic methods is rapidly increasing. First, the prenatal diagnosis of genetic diseases in Toronto Hospital Outpatient foundation: 1966 Stecle reported the first case of human amniotic fluid cell chromosome karyotype analysis. 1968 Valenti from amniotic fluid cell chromosome aberration karyotype, for the first time in prenatal diagnosis of Down’s syndrome. In 1970 the hospital began this research. Set up by the obstetrics and gynecology, genetics, cell biology, biochemistry, pediatrics, ultrasound and other multidisciplinary research group. 1971 Prenatal genetic diagnosis clinic. Second, clinical practice: common examination by the obstetrician and geneticist