中華民國小兒科醫學會第137屆學術演講會教育演講:先天性畸形-唐氏症

林秀娟
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引用次数: 2

Abstract

In 1990, we performed a nationwide survey among 38,137 neonates born in 27 hospitals in Taiwan and there were 45 Down syndrome. We estimated the incidence was 1.18/1000. Among 138 cases of Karyotypes obtained from 13 cytogenetic laboratory then, there were 96% of trisomy 21, 3% of translocation. In another study, we found the mean maternal age of 395 cases was 29.5±5.3, however, 20% of them were above 35 years old. In the growth study of Down syndrome in Taiwan, we found the final height of our male patients was around 156cm and 145cm in female. In these families, the first things they need are the assistance of daily care and education. The Cost of a Down syndrome up to 35 years old was estimated to be 3,780,000 to 4,470,000 NT dollars. Therefore, genetic counseling, prenatal diagnosis and maternal serum screening are very important in prevention.
中华民国小儿科医学会第137届学术演讲会教育演讲:先天性畸形-唐氏症
1990年,我们对台湾27家医院出生的38137名新生儿进行了全国性调查,其中唐氏综合征45例。我们估计发病率为1.18/1000。当时从13个细胞遗传学实验室获得的138例核型中,21三体占96%,易位占3%。在另一项研究中,我们发现395例产妇的平均年龄为29.5±5.3岁,但20%的产妇年龄在35岁以上。在台湾的唐氏综合征生长研究中,我们发现我们的男性患者最终身高在156cm左右,女性患者最终身高在145cm左右。在这些家庭中,他们首先需要的是日常照顾和教育的帮助。据估计,35岁以前患唐氏综合症的费用为378万至447万新台币。因此,遗传咨询、产前诊断和母体血清筛查在预防中非常重要。
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