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近年来,染色体病和单基因病的产前诊断工作已在台湾积极开展。在染色体病方面,采用羊水取样,有时用绒毛、胎儿脐带血取样进行细胞遗传学分析。在新检查的7209例产前诊断病例中,最主要的适应征是高龄妊娠(占57.2%),其余为生过染色体异常儿(8.3%),生过畸形儿(8%)和现正怀孕的有畸形胎儿(6.2%)。检查发现染色体异常147例(2%),其中常染色体病120例,性染色体病21例,多倍体4例。在单基因病方面,CVS和用Southern印迹及DNA杂交的分子分析的方法,主要用于
In recent years, prenatal diagnosis of chromosome disease and single gene disease has been actively carried out in Taiwan. In chromosomal diseases, using amniotic fluid sampling, sometimes with villi, fetal cord blood samples for cytogenetic analysis. Of the 7209 newly diagnosed cases of prenatal diagnosis, the most common indications were advanced pregnancy (57.2%), and the rest were metaphase infants (8.3%), unborn children (8%) and now pregnant Of deformed fetuses (6.2%). 147 cases found chromosomal abnormalities (2%), of which 120 cases of autosomal disease, 21 cases of sex chromosome disease, polyploidy in 4 cases. In the field of monogenic diseases, the method of molecular analysis of CVS and Southern blotting and DNA hybridization is mainly used for