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先天性甲状腺功能减退症的新生儿筛查:开展50年后的全球覆盖率

Newborn screening for congenital hypothyroidism: worldwide coverage 50 years after its start.

作者信息

Arrigoni Marta, Zwaveling-Soonawala Nitash, LaFranchi Stephen H, van Trotsenburg A S Paul, Mooij Christiaan F

出版信息

Eur Thyroid J. 2025 Jan 31;14(1). doi: 10.1530/ETJ-24-0327. Print 2025 Feb 1.

Abstract

BACKGROUND

Congenital hypothyroidism (CH) is a preventable cause of neurodevelopmental delay in children, detectable by newborn screening (NBS) programs for CH. Since NBS for CH was started in Canada in 1974, numerous countries have successfully implemented this public health strategy. However, in 2014, only 29.3% of newborns worldwide were screened by NBS for CH.

OBJECTIVE

This study aimed to assess the implementation of new NBS programs for CH over the past decade, and screening methods and coverage rates of current programs. In addition, it sought to update the worldwide iodine status.

METHODS

We reviewed literature data on NBS programs for CH and their coverage rates for each country, using PubMed, Embase and Google searches.

RESULTS

Currently, 29.6% of children worldwide are screened for CH. Europe, North America, Oceania, China, Japan and Israel have efficient programs with optimal coverage. Recently, some countries of Central and Western Asia have implemented NBS programs for CH, and coverage has increased in several Asian countries. South America has also seen substantial improvements in coverage. In contrast, almost none of the African countries has widespread screening programs, but some attempts with pilot studies and local initiatives have been witnessed. Global iodine sufficiency has improved, with 149 of 193 countries achieving adequate iodine levels by 2023.

CONCLUSIONS

Over the past decades, several countries have launched NBS programs for CH or conducted pilot studies, and the coverage of most existing NBS programs has increased. Nevertheless, approximately 70% of newborns worldwide still lack access to NBS for CH, predominantly in African and Asian countries, accounting for a significant part of annual births.

摘要

背景

先天性甲状腺功能减退症(CH)是儿童神经发育迟缓的一个可预防病因,可通过先天性甲状腺功能减退症新生儿筛查(NBS)项目检测出来。自1974年加拿大启动先天性甲状腺功能减退症新生儿筛查项目以来,许多国家已成功实施了这一公共卫生策略。然而,2014年,全球仅有29.3%的新生儿接受了先天性甲状腺功能减退症新生儿筛查。

目的

本研究旨在评估过去十年先天性甲状腺功能减退症新的新生儿筛查项目的实施情况,以及当前项目的筛查方法和覆盖率。此外,还试图更新全球碘营养状况。

方法

我们通过检索PubMed、Embase和谷歌,回顾了各国先天性甲状腺功能减退症新生儿筛查项目及其覆盖率的文献数据。

结果

目前,全球29.6%的儿童接受了先天性甲状腺功能减退症筛查。欧洲、北美、大洋洲、中国、日本和以色列拥有高效的项目,覆盖率达到最佳水平。最近,中亚和西亚的一些国家实施了先天性甲状腺功能减退症新生儿筛查项目,几个亚洲国家的覆盖率有所提高。南美洲的覆盖率也有显著提高。相比之下,几乎没有非洲国家开展广泛的筛查项目,但有一些进行试点研究和地方倡议的尝试。全球碘充足状况有所改善,到2023年,193个国家中有149个国家的碘水平达到了适宜水平。

结论

在过去几十年里,几个国家启动了先天性甲状腺功能减退症新生儿筛查项目或进行了试点研究,大多数现有新生儿筛查项目的覆盖率有所提高。然而,全球仍有约70%的新生儿无法获得先天性甲状腺功能减退症新生儿筛查,主要集中在非洲和亚洲国家,这些国家占每年出生人口的很大一部分。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4438/11816049/b30303bbe61c/ETJ-24-0327fig1.jpg

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