新生儿筛检政策相关伦理与法律第3次研商会议议程-圣马尔定医院

1、夫妾均為外國籍者:新生兒篩檢11項自費750元)夫妻有一方為本回籍者:新生兒篩檢11項(自費550元)四合一溶小镀儲積症篩檢(自費600元)嚴重複合型免疫缺乏症scid(自費250元)©both husband and wife are foreigner: 11 neonatal screening items (self-paid ntd750)©one of the husband or wife is taiwan naliona上 11 neonatal screening items (self-paid ntd550) 4-in-l lysosomal sto

2、rage disease (lsd) screening: (self-paid ntd600) severe combined immunodeficiency (scid) (self-paid ntd250)新生兒先趨計畫篩檢說明neonatal pilot-study screening instructions親愛的家長：您好為了早期偵測寶寶可能之先天代謝異常疾病，以便能及早治療，減少對寶寶之傷 害，衛生署目前指定有11種疾病必須進行新生兒篩檢，並已建立後續診斷治療服務， 且提供檢驗費用之部份補助，詳細內容請參閱新生兒篩檢衛教說明。除了這11種疾病 外，本中心另外提供串聯質譜儀先趨計

3、畫篩檢項目（免費項目八四合一溶小體儲積症篩 檢及嚴重複合型免疫缺乏症篩檢（自費項目），我們在此徵求您的同意，邀請您的寶寶接 受檢測。dear parents:to detect early the possible congenital metabolic disorders in babies for early treatment and reducing injury to babies, the ministry of health and welfare currently assigns 11 diseases that require neonatal screening wit

4、h establishment of subsequent diagnosis and treatment services, in addition to providing partial subsidy for the screening fees. for more information about the content, please refer to the instruction for neonatal screening. apart from these 11 diseases, the center also offers tandem mass spectromet

5、ry pilot-study screening (free items), lysosomal storage disease (lsd) screening and severe combined immunodeficiency (scid) (payment item). we hereby would like to request for your consent to invite your baby for the testing.一、串聯質譜儀檢測之其他項目：利用相同檢體與相同儀器進行檢測。雖然這些項目所 包括的疾病，有些還沒有明確的治療方式，然若及早診斷，或可及時採取醫療措

6、施，減 緩疾病對寶寶的傷害，檢測結果亦可作為您日後生育與遺傳諮詢之參考。i. other items of tandem mass spectrometry test: the test conduct screening using the same specimen and instrument. in spite of the lack of explicit treatment methods for the diseases included in these items, the early diagnosis or timely adoption of medical measu

7、res could alleviate the injury of the disease to the babies while the testing results could also be used as reference for you future birth and genetics consulting.二、溶小體儲積症（lysosomal storage disease, lsd ）:溶小體富含水解酵素，為細胞內 分解物質的重要胞器，溶小體儲積症是一種因溶小體內缺乏某一特定的水解酵素所導致的疾病，(詳細資料詳見相關衛教單張)，基於適當且有效的治療方式及檢驗技術，許多 溶小

8、體儲積症已逐漸被納入新生兒篩檢項目中。四合一溶小體儲積症篩檢項目包括(龐 貝氏症、法布瑞氏症高雪氏症*黏多醃症第一型篩檢)。ii. lysosomal storage disease (lsd): lysosomal has rich content of hydrolytic enzymes and are important organelle inside the cells for substance decomposition. lysosomal storage disease (lsd) is a disease caused by the deficiency of certa

9、in hydrolytic enzymes in lysosomal (please refer to the relevant instruction pamphlet). due to the proper and effective treatment methods and testing technologies, many lysosomal storage diseases is gradually included in the neonatal screening items. the 4-in-l lysosomal storage disease screening it

10、ems include pompe disease, fabry disease, gauchefs disease，and mucopolysaccharidosis type i screening.三、嚴重複合型免疫缺乏症(scid):是因為t淋巴球功能異常，造成患者細胞免疫及抗 體免疫功能均缺損，無法抵抗病毒及細菌感染。新生兒篩檢可以提供寶寶及早診斷及早 治療的機會。iii. severe combined immunodeficiency (scid): this disease is a result of the disorder in t-lymph nodes that le

11、ad to deficiency in cellular immunity and antibody immunity function, preventing the resistance against virus and bacterial infection. neonatal screening can provide babies with early diagnosis and early treatment.嚴重複合型免疫缺乏症的寶寶接種卡介苗(活性疫苗)，會因此感染(卡介苗性)結核 菌引發疾病造成後遺症或死亡。嚴重複合型免疫缺乏症在每10萬人的發生率為14。接 受scid篩檢

12、的寶寶如果等到確定無異常後，再接受卡介苗接種，疾病管制局建議最遲 於新生兒一個月大時與b肝疫苗一起施打。babies with severe combined immunodeficiency (scid) receiving bcg (live vaccines) will be infected with (bcg) mycobacterium tuberculosis that triggers disease and leads to sequel or death. the probability of scid in every 100,000 people is 1.4. for

13、 babies receiving scid screening, they will need to wait until validation of normality before receiving bcg vaccination. the center for disease control suggests that newborns should take bcg with hepatitis vaccine at no later than 1 month old.然而延後接種卡介苗也可能會有風險，目前結核菌感染的機會是每10萬人的發生 率為12人，未接種卡介苗的人如果感染結核

14、菌，會有40倍的風險得到結核菌腦膜炎， 造成後遺症或死亡。所以請盡量不要讓寶寶接觸可能的結核病患者(如避免咳嗽中的親 友來訪或照顧寶寶等)。nonetheless the delay of bcg vaccination will also lead to danger as the current probability of tb infection is 1-2 people in every 100,000 people and persons infecting withtb without bcg vaccination will have 40 times bigger the

15、risk of getting tuberculous meningitis, resulting in sequel or death. please do not let the babies get in contact with possible tb patients (i.e. avoid coughing relatives or fi'iends from visiting or caring for the baby).註:接受嚴重複合型免疫缺乏症新生兒篩檢的寶寶，請確定報告為無異常 後，再接受卡介苗接種。note: to receive the neonatal s

16、creening for severe combined immunodeficiency (scid), please validate the report as normal before the babies could receive bcg vaccination.這些檢驗將有助於衛生署日後決定是否納入常規篩檢。但是因為篩檢項目增加，您 的寶寶需要再複檢的機率也會提高。對於高度懷疑罹病之個案，我們將依循新生兒篩檢 轉介系統，進行疾病確診工作，如確診為陽性則資料將記錄於病歷，有可能影響日後之 保險權益。新生兒篩檢所採集之檢體，如果沒有得到您的允許，將不會作為其他之用途。these s

17、creenings will facilitate the ministry of health and welfare to determine if they should be included in regular screening. nonetheless when the number of screening items increases, the probability of your babies taking secondary screening will also increase. for cases highly suspected of the disease

18、, we will follow the neonatal screening referral system to conduct disease diagnosis validation. in case the diagnosis is verified positive, the data will be recorded on the medical records and could affect the right to insurance in the future. the specimen collected from neonatal screening will not

19、 be used for other purposes without your permissio n.串聯質譜儀檢測之其他項目簡介如下：other items of tandem mass spectrometry test are briefly described below:氨基酸類項目:酪胺酸血症；瓜胺酸血症；精胺酸血症；高氨血症等約4種。amino acids: four types, including tyrosinemia, citrullinemia, argininemia, hyperammonemia.有機酸類項目：戊二酸血症第二型(ga-ii)；丙酸血症)；3甲基

20、巴豆醯輔酶a竣化酶缺乏 症；3懇基3甲基戊二酸尿症；多發性竣化酶缺乏症等約5種。organic acid: five types, including glutaric aciduria type ii (ga-ii), propionic academia, 3-methylcrotonylglycinuria, 3-hydroxy-3-methylglutaryl-coa (hmgcoa)，andmultiple carboxylase deficiency.脂肪酸類項目:極長鏈醯輔酶a去氫酶缺乏症；長鏈脂肪酸代謝異常；短鏈脂肪酸代 謝異常；肉鹼穿透障礙；肉鹼結合酵素缺乏症第一、二型；去氫酶缺乏症； 三功能蛋白缺乏症；肉鹼吸收障礙