Screening newborns for inborn errors of metabolism by tandem mass spectrometry
Screening newborns for inborn errors of metabolism by tandem mass spectrometry
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DOI：
10.1056/nejmoa025225
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发表时间：
2003-06-05
影响因子：
158.5
通讯作者：
Carpenter, K
中科院分区：
文献类型：
--
作者：
Wilcken, B;Wiley, V;Carpenter, K
背景：电喷雾串联质谱技术的最新发展使得筛查新生儿许多罕见的先天性代谢缺陷成为可能，但筛查的有效性和结果仍不清楚。我们研究了通过串联质谱法筛查新生儿对31种疾病诊断率的影响。方法：我们比较了31种影响尿素循环、氨基酸、有机酸和脂肪酸氧化代谢的先天性缺陷的检出率，这些缺陷发生在362，000名通过串联质谱法筛查的新生儿中，为期4年（1998年4月至2002年3月）与澳大利亚新南威尔士州和澳大利亚首都直辖区的6个前4年出生队列的比率进行比较，这些地区集中了筛查、诊断和临床服务。在1982年至1998年期间，使用临床诊断期间的疾病总体患病率没有变化。在串联质谱筛查的队列中，先天性缺陷（不包括苯丙酮尿症）的患病率为15.7/100，000（95%置信区间为11.9至20.4），而在前四年队列中，校正后的患病率为8.6至9.5/100，000。在引入新生儿筛查后确诊的57例病例中，15例经临床诊断; 15例新生儿中有7例筛查结果正常。中链酰基辅酶A脱氢酶缺乏症的检出率明显增高（P
BACKGROUND:The recent development of electrospray tandem mass spectrometry makes it possible to screen newborns for many rare inborn errors of metabolism, but the efficacy and outcomes of screening remain unknown. We examined the effect of the screening of newborns by tandem mass spectrometry on the rates of diagnosis of 31 disorders.METHODS:We compared the rates of detection of 31 inborn errors affecting the metabolism of the urea cycle, amino acids, and organic acids and fatty-acid oxidation among 362,000 newborns screened by tandem mass spectrometry over a four-year period (April 1998 through March 2002) with the rates in six preceding four-year birth cohorts in New South Wales and the Australian Capital Territory, Australia, where screening, diagnostic, and clinical services were centralized.RESULTS:The overall prevalence of disorders during the periods when clinical diagnosis was used did not vary between 1982 and 1998. In the cohort screened with tandem mass spectrometry, the prevalence of inborn errors, excluding phenylketonuria, was 15.7 per 100,000 births (95 percent confidence interval, 11.9 to 20.4), as compared with adjusted rates of 8.6 to 9.5 per 100,000 births in the four preceding four-year cohorts. Of the 57 cases diagnosed after the introduction of newborn screening, 15 were diagnosed clinically; 7 of the 15 newborns had a normal result on screening. The rate of detection was increased specifically for medium-chain acyl-coenzyme A dehydrogenase deficiency (P