Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples

新生儿筛查 医学 人类遗传学 儿科 遗传学 生物 基因
作者
Esther M. Maier,Ulrike Mütze,Nils Janzen,Ulrike Steuerwald,U Nennstiel‐Ratzel,Birgit Odenwald,Elfriede Schuhmann,Amelie S. Lotz‐Havla,Katharina Weiß,Johanna Hammersen,Corina Weigel,Eva Thimm,Sarah C. Grünert,Julia B. Hennermann,Peter Freisinger,Johannes Krämer,Anibh M. Das,Sabine Illsinger,Gwendolyn Gramer,Junmin Fang‐Hoffmann,Sven F. Garbade,Jürgen G. Okun,Georg F. Hoffmann,Stefan Kölker,Wulf Röschinger
出处
期刊:Journal of Inherited Metabolic Disease [Springer Science+Business Media]
卷期号:46 (6): 1043-1062 被引量:8
标识
DOI:10.1002/jimd.12671
摘要

Analytical and therapeutic innovations led to a continuous but variable extension of newborn screening (NBS) programmes worldwide. Every extension requires a careful evaluation of feasibility, diagnostic (process) quality and possible health benefits to balance benefits and limitations. The aim of this study was to evaluate the suitability of 18 candidate diseases for inclusion in NBS programmes. Utilising tandem mass spectrometry as well as establishing specific diagnostic pathways with second-tier analyses, three German NBS centres designed and conducted an evaluation study for 18 candidate diseases, all of them inherited metabolic diseases. In total, 1 777 264 NBS samples were analysed. Overall, 441 positive NBS results were reported resulting in 68 confirmed diagnoses, 373 false-positive cases and an estimated cumulative prevalence of approximately 1 in 26 000 newborns. The positive predictive value ranged from 0.07 (carnitine transporter defect) to 0.67 (HMG-CoA lyase deficiency). Three individuals were missed and 14 individuals (21%) developed symptoms before the positive NBS results were reported. The majority of tested candidate diseases were found to be suitable for inclusion in NBS programmes, while multiple acyl-CoA dehydrogenase deficiency, isolated methylmalonic acidurias, propionic acidemia and malonyl-CoA decarboxylase deficiency showed some and carnitine transporter defect significant limitations. Evaluation studies are an important tool to assess the potential benefits and limitations of expanding NBS programmes to new diseases.
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