Newborn screening and the screening laboratory: past, present and future
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)) allow...
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Bioscientifica
2025-02-01
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| Series: | European Thyroid Journal |
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| Online Access: | https://etj.bioscientifica.com/view/journals/etj/14/1/ETJ-24-0325.xml |
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| author | Anita Boelen Annemieke C Heijboer |
| author_facet | Anita Boelen Annemieke C Heijboer |
| author_sort | Anita Boelen |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-11bce538b4d74dbfb6b8171750d9a161 |
| institution | Kabale University |
| issn | 2235-0802 |
| language | English |
| publishDate | 2025-02-01 |
| publisher | Bioscientifica |
| record_format | Article |
| series | European Thyroid Journal |
| spelling | doaj-art-11bce538b4d74dbfb6b8171750d9a1612025-02-11T12:32:30ZengBioscientificaEuropean Thyroid Journal2235-08022025-02-0114110.1530/ETJ-24-03251Newborn screening and the screening laboratory: past, present and futureAnita Boelen0Annemieke C Heijboer1Endocrine Laboratory, Department of Laboratory Medicine, Amsterdam UMC, location University of Amsterdam, Amsterdam, The NetherlandsEndocrine Laboratory, Department of Laboratory Medicine, Amsterdam UMC, location University of Amsterdam, Amsterdam, The NetherlandsThyroid 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.https://etj.bioscientifica.com/view/journals/etj/14/1/ETJ-24-0325.xmlneonatal screeningcongenital hypothyroidismtsht4 |
| spellingShingle | Anita Boelen Annemieke C Heijboer Newborn screening and the screening laboratory: past, present and future European Thyroid Journal neonatal screening congenital hypothyroidism tsh t4 |
| title | Newborn screening and the screening laboratory: past, present and future |
| title_full | Newborn screening and the screening laboratory: past, present and future |
| title_fullStr | Newborn screening and the screening laboratory: past, present and future |
| title_full_unstemmed | Newborn screening and the screening laboratory: past, present and future |
| title_short | Newborn screening and the screening laboratory: past, present and future |
| title_sort | newborn screening and the screening laboratory past present and future |
| topic | neonatal screening congenital hypothyroidism tsh t4 |
| url | https://etj.bioscientifica.com/view/journals/etj/14/1/ETJ-24-0325.xml |
| work_keys_str_mv | AT anitaboelen newbornscreeningandthescreeninglaboratorypastpresentandfuture AT annemiekecheijboer newbornscreeningandthescreeninglaboratorypastpresentandfuture |