中華民國小兒科醫學會第137屆學術演講會－遺傳疾病的全國性登錄作業研究

The137th Scientific Meeting of the Chinese Taipei Pediatric Association-National Registration of Congenital Anomalies

王作仁(Tso-Ren Wang)

《Acta Paediatrica Sinica》 35卷s_1期 (1994/04) Pp. 6-14

https://doi.org/10.7097/APS.199404.0006

摘要

中華民國台灣自民國74年起開始實施新生兒篩檢的工作，總共有五項的代謝功能的篩檢：先天性甲狀腺功能低下症(Congenital Hypothyroidism簡稱CHT)，苯酮尿症狀(Phenylketonuria,簡稱PKU)，高胱胺酸尿症(Homocystinuria,簡稱HCU)，半乳醣血症(Galactosemia,簡稱GAL)，葡萄醣-6-磷酸鹽去氫缺乏症(Glucose-6Phosphate dehy-drogenase deficiency,簡稱G6PD)。自民國74年起，共有1，509，666位的新生兒接受這五項的篩檢，佔總活産出生人口數的50.8%。新生兒接受篩檢的比率在74年為6.7%(佔當年度的活産出生數到81年時已增加為94.1%的新生兒均經過此項篩檢工作。
新生兒代謝異常的發生率：CHT為1/2941；PKU為1/41，667；HCU為1/250,000;G功AL為1/500,000;G6PD為1/86活産數。

並列摘要

The national neonatal screening program is initialed in Taiwan since 1975. There are screened for disorders: Congenital hypothyroidism (CHT), Phenylketonuria (PKU), Homocystinuria (HCU), Galatosemia (GAL), Glucose-6-phosphate dehydrogenase deficiency (G6PD). Totally 1,509,166 infants (50.8% of all live births during the past nine years) were screened for these disorders. The screening rate is increasing from 6.7% (1975) to 94.1% (1992). The incidences each disorder are: CHT 1:2941; PKU1:41667; HCU 1:250,000; GAL 1:500,000 G6PD 1:86 live birth. The purpose of this study is to find out the function of The Genetic Monitoring Center in Taiwan. The moniotering Center is set up in Jan. 1991, the function is in conjunction with National Neonatal Screening Program. Through the process of recording and following up, the medical treatment process of each confirmed case will be recorded completely. By this process not only to give cases whole medical records, but to provide the best treatment strategy to new confirmed case. Since Jan. 1991, the center has kept 19,063 cases medical records in the computer system. There are 15 hospitals and 19 doctors joining in this program. Although there some cases are missed, the monitoring system may achieve high coverage and effectiveness and may help reduce mental insufficiency and poor compliance of Treatment. We will do our best to continue this program to try to registry all the birth defects in Taiwan continuously.

並列關鍵字

Neonatal metabolic screening ； birth defects ； national registry