Portuguese Neonatal Screening Program: A Cohort Study of 18 Years Using MS/MS

IF 5.5 3区材料科学 Q2 CHEMISTRY, PHYSICAL ACS Applied Energy Materials Pub Date : 2024-03-20 DOI:10.3390/ijns10010025

Maria Miguel Gonçalves, A. Marcão, Carmen Sousa, C. Nogueira, H. Fonseca, H. Rocha, L. Vilarinho

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Abstract

The Portuguese Neonatal Screening Program (PNSP) conducts nationwide screening for rare diseases, covering nearly 100% of neonates and screening for 28 disorders, including 24 inborn errors of metabolism (IEMs). The study’s purpose is to assess the epidemiology of the screened metabolic diseases and to evaluate the impact of second-tier testing (2TT) within the PNSP. From 2004 to 2022, 1,764,830 neonates underwent screening using tandem mass spectrometry (MS/MS) to analyze amino acids and acylcarnitines in dried blood spot samples. 2TT was applied when necessary. Neonates with profiles indicating an IEM were reported to a reference treatment center, and subsequent biochemical and molecular studies were conducted for diagnostic confirmation. Among the screened neonates, 677 patients of IEM were identified, yielding an estimated birth prevalence of 1:2607 neonates. The introduction of 2TT significantly reduced false positives for various disorders, and 59 maternal cases were also detected. This study underscores the transformative role of MS/MS in neonatal screening, emphasizing the positive impact of 2TT in enhancing sensitivity, specificity, and positive predictive value. Our data highlight the efficiency and robustness of neonatal screening for IEM in Portugal, contributing to early and life-changing diagnoses.

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葡萄牙新生儿筛查计划：使用 MS/MS 进行的 18 年队列研究

葡萄牙新生儿筛查计划（PNSP）在全国范围内开展罕见病筛查，几乎覆盖了100%的新生儿，筛查28种疾病，包括24种先天性代谢异常（IEM）。该研究的目的是评估筛查出的代谢性疾病的流行病学，并评估在 PNSP 内进行二级检测（2TT）的影响。从 2004 年到 2022 年，1,764,830 名新生儿接受了使用串联质谱（MS/MS）分析干血斑样本中氨基酸和酰肉碱的筛查。必要时采用 2TT 方法。如果新生儿检查结果显示患有 IEM，则将其报告给参考治疗中心，随后进行生化和分子研究以确诊。在接受筛查的新生儿中，共发现了 677 名 IEM 患者，估计出生率为 1:2607。2TT 的引入大大降低了各种疾病的假阳性率，同时还发现了 59 例母体病例。这项研究强调了 MS/MS 在新生儿筛查中的变革性作用，强调了 2TT 在提高灵敏度、特异性和阳性预测值方面的积极影响。我们的数据突显了葡萄牙新生儿IEM筛查的高效性和稳健性，有助于及早做出改变生命的诊断。

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来源期刊

ACS Applied Energy Materials Materials Science-Materials Chemistry

CiteScore

10.30

自引率

6.20%

发文量

1368

期刊介绍： ACS Applied Energy Materials is an interdisciplinary journal publishing original research covering all aspects of materials, engineering, chemistry, physics and biology relevant to energy conversion and storage. The journal is devoted to reports of new and original experimental and theoretical research of an applied nature that integrate knowledge in the areas of materials, engineering, physics, bioscience, and chemistry into important energy applications.