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全球先天性甲状腺功能减退症新生儿筛查项目的召回率

Worldwide Recall Rate in Newborn Screening Programs for Congenital Hypothyroidism.

作者信息

Mehran Ladan, Khalili Davood, Yarahmadi Shahin, Amouzegar Atieh, Mojarrad Mehdi, Ajang Nasrin, Azizi Fereidoun

机构信息

Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, IR Iran.

Prevention of Metabolic Disorders Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, IR Iran.

出版信息

Int J Endocrinol Metab. 2017 Jun 25;15(3):e55451. doi: 10.5812/ijem.55451. eCollection 2017 Jul.

Abstract

CONTEXT

Neonatal mass screening program for congenital hypothyroidism provides the best tool for prevention of its devastating effects on mental development. Despite the overall success of the screening programs in detecting congenital hypothyroidism and eliminating its sequelae and new developments made in the program design, high recall rate and false positive results impose a great challenge worldwide. Lower recall rate and false positive results may properly organize project expenses by reducing the unnecessary repeated laboratory tests, increase physicians and parents' assurance and cooperation, as well as reduce the psychological effects in families.

EVIDENCE ACQUISITION

In this review, we assessed the recall rate in different programs and its risk factors worldwide.

METHODS

Publications reporting the results of the CH screening program from 1997 to 2016 focusing on the recall rate have been searched.

RESULTS

Recall rates vary from 0.01% to 13.3% in different programs; this wide range may be due to different protocols of screening (use of T4 or TSH or both), different laboratory techniques, site of sample collection, recall cutoff, iodine status, human error, and even CH incidence as affected by social, cultural, and regional factors of the population.

CONCLUSIONS

It is suggested to implement suitable interventions to reduce the contributing factors by improving the quality of laboratory tests, selecting conservative cut off points, control iodine deficiency, use of iodine free antiseptic during delivery, and use of more specific markers or molecular tests. Applying an age dependent criteria for thyrotropin levels can be helpful in regions with a varied time of discharge after delivery or for preterm babies.

摘要

背景

先天性甲状腺功能减退症新生儿群体筛查项目为预防其对智力发育的毁灭性影响提供了最佳工具。尽管筛查项目在检测先天性甲状腺功能减退症以及消除其后遗症方面总体取得成功,且项目设计有新进展,但高召回率和假阳性结果在全球范围内构成了巨大挑战。降低召回率和假阳性结果可通过减少不必要的重复实验室检测来合理安排项目费用,增强医生和家长的信心与合作,并减轻家庭的心理影响。

证据获取

在本综述中,我们评估了全球不同项目中的召回率及其风险因素。

方法

检索了1997年至2016年期间报告先天性甲状腺功能减退症筛查项目结果且重点关注召回率的出版物。

结果

不同项目的召回率在0.01%至13.3%之间;如此大的范围可能归因于不同的筛查方案(使用T4或TSH或两者)、不同的实验室技术、样本采集部位、召回临界值、碘状态、人为误差,甚至是受人群社会、文化和区域因素影响的先天性甲状腺功能减退症发病率。

结论

建议实施适当干预措施,通过提高实验室检测质量、选择保守的临界值、控制碘缺乏、分娩时使用无碘防腐剂以及使用更特异的标志物或分子检测来减少影响因素。对于分娩后出院时间各异的地区或早产儿,应用年龄依赖性促甲状腺激素水平标准可能会有所帮助。

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Newborn screening for congenital hypothyroidism.先天性甲状腺功能减退症的新生儿筛查
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Newborn screening strategies for congenital hypothyroidism: an update.新生儿先天性甲状腺功能减退症的筛查策略:更新。
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Newborn screening for congenital hypothyroidism.先天性甲状腺功能减退症的新生儿筛查
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