Newborn screening in the US may miss mild persistent hypothyroidism

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dc.contributor.authorKilberg, M. J.
dc.contributor.authorRasooly, I. R.
dc.contributor.authorLaFranchi, S. H.
dc.contributor.authorBauer, A. J.
dc.contributor.authorHawkes, Colin P.
dc.contributor.funderNational Institutes of Healthen
dc.date.accessioned2022-01-27T10:52:17Z
dc.date.available2022-01-27T10:52:17Z
dc.date.issued2018
dc.description.abstractObjective To determine if newborn screening (NBS) programs for congenital hypothyroidism in the US use thyroid-stimulating hormone (TSH) cutoffs that are age adjusted to account for the physiologic 4-fold reduction in TSH concentrations over the first few days of life. Study design All NBS programs in the US were contacted and asked to provide information on their NBS protocols, TSH cutoffs, and whether these cutoffs were age adjusted. Results Of 51 NBS programs, 28 request a repeat specimen if the initial eluted serum TSH concentration is mildly increased (between the cutoff and a median upper limit of 50 mU/L), whereas 14 programs perform a routine second screen in all infants. Although these specimens are typically collected between 1 week and 1 month of life, 16 of the 28 programs with a discretionary second test and 8 of 14 programs with a routine second test do not have age-adjusted TSH cutoffs after the first 48 hours of life. Conclusions There is variation in NBS practices for screening for congenital hypothyroidism across the US, and many programs do not adjust the TSH cutoff beyond the first 2 days of life. Samples are processed when received from older infants, often to retest borderline initial results. This approach will miss congenital hypothyroidism in infants with persistent mild TSH elevations. We recommend that all NBS programs provide age-adjusted TSH cutoffs, and suggest developing a standard approach to screening for congenital hypothyroidism in the US. © 2017 Elsevier Inc.en
dc.description.sponsorshipNational Institutes of Health (Eunice Kennedy Shriver National Institute of Child Health and Human Development T32HD060550)en
dc.description.statusPeer revieweden
dc.description.versionAccepted Versionen
dc.format.mimetypeapplication/pdfen
dc.identifier.citationKilberg, M. J., Rasooly, I. R., LaFranchi, S. H., Bauer, A. J. and Hawkes, C. P. (2018) ‘Newborn screening in the US may miss mild persistent hypothyroidism’, Journal of Pediatrics, 192, pp.204-208. doi: 10.1016/j.jpeds.2017.09.003en
dc.identifier.doi10.1016/j.jpeds.2017.09.003
dc.identifier.endpage208
dc.identifier.issn0022-3476
dc.identifier.journaltitleJournal of Pediatricsen
dc.identifier.startpage204
dc.identifier.urihttps://hdl.handle.net/10468/12488
dc.language.isoenen
dc.publisherMosby Inc.en
dc.rights© 2017, Elsevier Inc. All rights reserved. This manuscript version is made available under the CC BY-NC-ND 4.0 license.en
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/4.0/
dc.subjectCongenital hypothyroidismen
dc.subjectCutoffen
dc.subjectNewbornen
dc.subjectNewborn screenen
dc.subjectThyroiden
dc.subjectTSHen
dc.subjectUnited Statesen
dc.subjectUSen
dc.titleNewborn screening in the US may miss mild persistent hypothyroidismen
dc.typeArticle (peer-reviewed)en
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