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.
最长约 10秒,即可获得该文献文件

科研通智能强力驱动
Strongly Powered by AbleSci AI
更新
PDF的下载单位、IP信息已删除 (2025-6-4)

科研通是完全免费的文献互助平台,具备全网最快的应助速度,最高的求助完成率。 对每一个文献求助,科研通都将尽心尽力,给求助人一个满意的交代。
实时播报
哈哈哈哈完成签到,获得积分10
刚刚
1秒前
生椰拿铁不加生椰完成签到 ,获得积分10
2秒前
认真的灵竹完成签到 ,获得积分10
3秒前
Zxx关注了科研通微信公众号
4秒前
4秒前
franca2005完成签到 ,获得积分10
4秒前
本末倒纸完成签到 ,获得积分10
6秒前
wbscz应助星辰采纳,获得10
6秒前
toxikon发布了新的文献求助10
7秒前
8秒前
10秒前
大模型应助剁辣椒蒸鱼头采纳,获得20
10秒前
小北完成签到 ,获得积分10
10秒前
11秒前
高挑的冰露完成签到 ,获得积分10
14秒前
ruochenzu发布了新的文献求助10
14秒前
老李完成签到,获得积分10
14秒前
15秒前
16秒前
tough_cookie完成签到 ,获得积分10
17秒前
彩钢房完成签到,获得积分10
18秒前
MeSs完成签到 ,获得积分10
19秒前
toxikon完成签到,获得积分10
20秒前
一点通完成签到,获得积分10
20秒前
Lei完成签到,获得积分10
21秒前
21秒前
21秒前
常若冰完成签到,获得积分10
21秒前
纯真的元风完成签到,获得积分10
22秒前
哇哈哈哈完成签到,获得积分10
22秒前
清秋1001完成签到 ,获得积分10
23秒前
qq完成签到,获得积分10
24秒前
荒野风发布了新的文献求助10
25秒前
Zxx发布了新的文献求助10
26秒前
27秒前
27秒前
确幸完成签到 ,获得积分10
27秒前
苒苒完成签到,获得积分10
27秒前
28秒前
高分求助中
【提示信息,请勿应助】关于scihub 10000
Les Mantodea de Guyane: Insecta, Polyneoptera [The Mantids of French Guiana] 3000
徐淮辽南地区新元古代叠层石及生物地层 3000
The Mother of All Tableaux: Order, Equivalence, and Geometry in the Large-scale Structure of Optimality Theory 3000
Global Eyelash Assessment scale (GEA) 1000
Picture Books with Same-sex Parented Families: Unintentional Censorship 550
Research on Disturbance Rejection Control Algorithm for Aerial Operation Robots 500
热门求助领域 (近24小时)
化学 材料科学 医学 生物 工程类 有机化学 生物化学 物理 内科学 纳米技术 计算机科学 化学工程 复合材料 遗传学 基因 物理化学 催化作用 冶金 细胞生物学 免疫学
热门帖子
关注 科研通微信公众号,转发送积分 4038619
求助须知:如何正确求助?哪些是违规求助? 3576294
关于积分的说明 11375058
捐赠科研通 3306084
什么是DOI,文献DOI怎么找? 1819374
邀请新用户注册赠送积分活动 892698
科研通“疑难数据库(出版商)”最低求助积分说明 815066