本會協助國民健康署於義大利波隆那舉辦的2018 第 26 屆健康促進醫院國際研討會 ( 26th International Conference on Health Promoting Hospitals and Health Services ) 中共同發表「Outcome of Newborn Glucose-6-Phosphate Dehydrogenase (G6PD) Screening Program in Taiwan」論文。
本會蕭廣仁執行長 ( Kwang-Jen Hsiao ) 為本文第一作者。
專案經理蕭郁詩 ( Yu-Shih Shiau ) 與執行秘書蔣思慧 ( Szu-Hui Chiang )為本文第三及第五作者。
本文主要為探討台灣新生兒G6PD缺乏症篩檢與防治的成效。根據文獻，1970年代台灣的新生兒黃疸住院患童中有30％是G6PD缺乏症患童。罹患G6PD缺乏症的新生兒黃疸住院患童死亡率為16％，發生核黃疸的比例為32％。1987年台灣開始執行全面性的新生兒 G6PD 篩檢。1996年之後，篩檢覆蓋率已達99％以上。
除此之外，為了確保新生兒 G6PD 篩檢的檢驗品質，自1988年起，亦開始執行新生兒G6PD篩檢和確診檢驗院際品質保證計畫。衛生健康單位也在新生兒出院之前提供父母衛生教育，以期能預防及早期發現新生兒黃疸。
研究顯示相關的公共衛生計畫 (包含全面性新生兒 G6PD 篩檢，及新生兒篩檢與確診檢驗院際品管計畫) 和有效的臨床診治，幾乎已消除了 G6PD 缺乏症導致的新生兒黃疸重大後遺症之發生及死亡，防治成效良好。同時也將成效良好的新生兒 G6PD 篩檢和確診檢驗院際品質保證計畫推廣到其他國家，以協助他國維持相關檢驗之品質。
Outcome of Newborn Glucose-6-Phosphate Dehydrogenase (G6PD) Screening Program in Taiwan
Kwang-Jen Hsiao, Hsin-Ling Yeh, Yu-Shih Shiau, Pei-Chen Tsao, Szu-Hui Chiang, Po-Huang Chiang, Ying-Wei Wang
Severe neonatal jaundice (NJ) triggered by environmental factors and/or medications is the major health impact of G6PD deficiency in newborns. If not prevented or treated properly, it may lead to kernicterus and cause death or permanent neurological damages. The incidence of G6PD deficiency in Taiwan is about 2%. In 1970s, 30% of NJ admitted to hospital was G6PD deficient with 16% mortality and 32% developed kernicterus. A nationwide newborn G6PD screening program for prevention was started in 1987.
For the quality of the screening, external quality assurance (EQA) programs for G6PD screening and confirmatory tests have been developed since 1988. The Health Promotion Administration also provided education resources for parents before neonates were discharged from the nursery regarding early recognition of NJ. The patient data of hospital admission with NJ after discharged from the birthing facility between 2000 and 2010 were retrieved from the National Health Insurance Research Database, which covered >98% population of Taiwan, for analysis.
The coverage rate of the screening program has reached >99% since 1996. There were 12,828 NJ (0.53%) admissions from 2,428,341 live births and 27 of them were treated with exchange transfusion between 2000 and 2010. Only 9 of the NJ cases dead within 1 month of age and 4 of them developed kernicterus not due to isoimmunization. The average immediately severe morbidity and mortality were about 1 (0 ~ 3) case per year nationwide.
The results indicated that public health prevention program (including universal newborn G6PD screening) and effective clinical management in Taiwan almost eliminated severe morbidity and mortality caused by NJ with G6PD deficiency after discharge from birth facilities. The EQA programs developed have been extended to help newborn screening programs in other countries worldwide.