Ethnic variability in newborn metabolic screening markers associated with false-positive outcomes.
Ethnic variability in newborn metabolic screening markers associated with false-positive outcomes.
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DOI：
10.1002/jimd.12236
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发表时间：
2020-09
影响因子：
4.2
通讯作者：
Scharfe C
中科院分区：
文献类型：
--
作者：
Peng G;Tang Y;Gandotra N;Enns GM;Cowan TM;Zhao H;Scharfe C
新生儿筛查（NBS）计划利用各种临床变量的信息，如胎龄，性别和出生体重，以减少先天性代谢紊乱的假阳性筛查。在这里，我们研究了种族对不同新生儿人群代谢标志物水平的影响。分析了筛查阴性单胎婴儿（n = 100 000）的NBS数据，其中包括通过串联质谱法测量的血液代谢标志物和父母报告的种族状况。使用效应量分析比较了主要种族组（亚洲人、黑人、西班牙裔、白色人）之间的代谢标志物水平，该分析控制了组大小差异和临床变量的影响。种族之间发现的标志物水平差异与2532例假阳性病例的NBS数据相关，这些假阳性病例有4种代谢疾病：1型谷氨酸血症（GA-1）、甲基丙二酸血症（MMA）、鸟氨酸转氨甲酰酶缺乏症（OTCD）和极长链酰基辅酶A脱氢酶缺乏症（VLCADD）。结果，79%的代谢标志物（43个中的34个）具有种族相关差异。与其他组相比，黑人婴儿的GA-1标志物升高，（C5 DC，Cohen's d = .37，P < .001），西班牙裔人的MMA标记物升高，（C3，Cohen’s d = .13，P < .001，C3/C2，Cohen’s d = .27，P < .001）;白人VLCADD标记物升高（C14，Cohen's d = .28，P < .001; C14：1，Cohen's d = .22，P < .001）和OTCD标记物减少（瓜氨酸，Cohen's d =-0.26，P < .001）。这些发现与GA-1在黑人婴儿中、MMA在西班牙裔婴儿中以及OTCD和VLCADD在白人婴儿中的较高假阳性率相关。基于网络的工具可用于分析新生儿代谢中与种族相关的变化，并支持开发方法以识别代谢筛查中的假阳性。
Newborn screening (NBS) programmes utilise information on a variety of clinical variables such as gestational age, sex, and birth weight to reduce false‐positive screens for inborn metabolic disorders. Here we study the influence of ethnicity on metabolic marker levels in a diverse newborn population. NBS data from screen‐negative singleton babies (n = 100 000) were analysed, which included blood metabolic markers measured by tandem mass spectrometry and ethnicity status reported by the parents. Metabolic marker levels were compared between major ethnic groups (Asian, Black, Hispanic, White) using effect size analysis, which controlled for group size differences and influence from clinical variables. Marker level differences found between ethnic groups were correlated to NBS data from 2532 false‐positive cases for four metabolic diseases: glutaric acidemia type 1 (GA‐1), methylmalonic acidemia (MMA), ornithine transcarbamylase deficiency (OTCD), and very long‐chain acyl‐CoA dehydrogenase deficiency (VLCADD). In the result, 79% of the metabolic markers (34 of 43) had ethnicity‐related differences. Compared to the other groups, Black infants had elevated GA‐1 markers (C5DC, Cohen's d = .37, P < .001), Hispanics had elevated MMA markers (C3, Cohen's d = .13, P < .001, and C3/C2, Cohen's d = .27, P < .001); and Whites had elevated VLCADD markers (C14, Cohen's d = .28, P < .001, and C14:1, Cohen's d = .22, P < .001) and decreased OTCD markers (citrulline, Cohen's d = −.26, P < .001). These findings correlated with the higher false‐positive rates in Black infants for GA‐1, in Hispanics for MMA, and in Whites for OTCD and for VLCADD. Web‐based tools are available to analyse ethnicity‐related changes in newborn metabolism and to support developing methods to identify false‐positives in metabolic screening.
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