Population screening for neonatal liver disease: potential for a community-based programme
Population screening for neonatal liver disease: potential for a community-based programme
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DOI：
10.1258/096914103769010996
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发表时间：
2003-01-01
影响因子：
2.9
通讯作者：
Green, A
中科院分区：
文献类型：
--
作者：
Powell, JE;Keffler, S;Green, A
目的：为了评估一个以社区为基础的筛查计划，检测新生儿肝脏疾病的定量结合bilirubin in blood.Setting和方法：前瞻性队列/观察性研究使用备用血浆从常规收集的液体新生儿筛查样本出生在伯明翰超过两年的时间。对结合胆红素高于18 mumol/l且占总胆红素20%以上的婴儿进行随访。共有27,654名新生儿进行了测试，在社区，进一步2425样本的婴儿住院时的tests.Results：在社区为基础的系列，84.7%收到的标本进行了分析，其余无法使用，主要是因为毛溶血（8.6%）或样本不足（5.8%）。107名新生儿的结果高于截止限（占分析人数的0.46%）。其中，12人有持续异常结果，其中11人已确认肝脏疾病。新生儿肝炎6例，肝外胆道闭锁2例，垂体功能低下1例，α 1-抗胰蛋白酶缺乏症1例，Alagille综合征1例。在社区的婴儿的测试的灵敏度和特异性分别为100%和99.6%，respectively.Conclusions：结合胆红素在血浆中测量6-10天是一个可靠的标志物新生儿肝病，和人口筛查计划的基础上，这种方法有可能提高生存和生活质量的新生儿肝病。然而，作为新生儿筛查方案的一部分，只有在该方法能够适用于使用干血斑的情况下，才能证明检测是切实可行的。
Objectives: To evaluate a community-based screening programme for detecting neonatal liver disease by the quantitation of conjugated bilirubin in blood.Setting and Methods: Prospective cohort/observational study using spare plasma from routinely collected liquid neonatal screening specimens from babies born in Birmingham over a two-year period. Babies with a conjugated bilirubin above 18 mumol/l and comprising more than 20% of the total bilirubin were followed up. A total of 27,654 neonates were tested in the community, with a further 2425 samples from babies hospitalised at the time of the test.Results: In the community-based series, 84.7% of the specimens received were analysed, the remainder being unusable mainly because of gross haemolysis (8.6%) or insufficient sample (5.8%). In 107 neonates the results were above the cut-off limits (0.46% of the number analysed). Of these, 12 had persistently abnormal results, 11 of whom had confirmed liver disease. The liver diseases detected included neonatal hepatitis (n=6), extra-hepatic biliary atresia (n=2), hypopituitarism (n=l), alpha-1-antitrypsin deficiency (n= 1) and Alagille syndrome (n= 1). The sensitivity and specificity of the test for babies in the community were 100% and 99.6%, respectively.Conclusions: Conjugated bilirubin in plasma measured at 6-10 days is a reliable marker for neonatal liver disease, and a population screening programme based on this method has the potential to improve the survival and quality of life of infants born with liver disease. However, testing as part of the neonatal screening programme will prove practical only if the method can be adapted to use dried blood spots.