Newborn screening and the screening laboratory: past, present and future.

IF 3.5 2区 医学 Q2 ENDOCRINOLOGY & METABOLISM
European Thyroid Journal Pub Date : 2025-02-10 Print Date: 2025-02-01 DOI:10.1530/ETJ-24-0325
Anita Boelen, Annemieke C Heijboer
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引用次数: 0

Abstract

Thyroid hormone (TH) is essential for brain development in utero and during the first 2 to 3 years of life. The negative effects of TH deficiency on brain development are irreversible. Early detection of TH deficiency in neonates (congenital hypothyroidism (CH) through newborn screening (NBS)) allows for early treatment, thereby preventing brain damage. Screening for CH began in 1973 with the measurement of total thyroxine (T4) in dried blood spots. The enhanced sensitivity of thyroid-stimulating hormone (TSH) measurement has prompted a shift in the approach to NBS for CH. Currently, worldwide, the majority of NBS programs for CH employ TSH as the primary screening marker. However, a select few programs still utilize T4 as the primary marker, enabling the detection of both primary and central CH. This review provides an overview of the laboratory aspects of the screening on CH from the start of screening to the present.

新生儿筛查和筛查实验室:过去、现在和未来。
甲状腺激素(TH)在子宫内和生命的头两到三年对大脑发育至关重要。甲状腺素缺乏对大脑发育的负面影响是不可逆转的。通过新生儿筛查(NBS)早期发现新生儿甲状腺素缺乏症(先天性甲状腺功能减退症(CH))可以进行早期治疗,从而防止脑损伤。CH的筛查始于1973年,在干血斑中测量总甲状腺素(T4)。促甲状腺激素(TSH)检测灵敏度的提高促使人们转向采用NBS检测CH。目前,在世界范围内,大多数NBS检测CH的项目都将TSH作为主要筛查指标。然而,少数项目仍然使用T4作为主要标记物,从而能够检测原发性和中枢性CH。本文综述了从筛查开始到现在对CH筛查的实验室方面的概述。
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来源期刊
European Thyroid Journal
European Thyroid Journal Medicine-Endocrinology, Diabetes and Metabolism
CiteScore
6.70
自引率
2.10%
发文量
156
期刊介绍: The ''European Thyroid Journal'' publishes papers reporting original research in basic, translational and clinical thyroidology. Original contributions cover all aspects of the field, from molecular and cellular biology to immunology and biochemistry, from physiology to pathology, and from pediatric to adult thyroid diseases with a special focus on thyroid cancer. Readers also benefit from reviews by noted experts, which highlight especially active areas of current research. The journal will further publish formal guidelines in the field, produced and endorsed by the European Thyroid Association.
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