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

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.