Long-Term Course of Hypothyroidism Detected through Neonatal TSH Screening in a Population-Based Cohort of Very Preterm Infants Born at Less than 32 Weeks of Gestation

After several decades of successful newborn screening (NBS) for congenital hypothyroidism, the optimal hypothyroidism NBS algorithm for very preterm infants is still controversial. Due to concerns about an elevated risk of a false-negative initial thyroid-stimulation hormone (TSH) screening, repeat...

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Main Authors: Birgit Odenwald, Aline Fischer, Wulf Röschinger, Bernhard Liebl, Heinrich Schmidt, Uta Nennstiel
Format: Article
Language:English
Published: MDPI AG 2021-10-01
Series:International Journal of Neonatal Screening
Subjects:
Online Access:https://www.mdpi.com/2409-515X/7/4/65
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author Birgit Odenwald
Aline Fischer
Wulf Röschinger
Bernhard Liebl
Heinrich Schmidt
Uta Nennstiel
author_facet Birgit Odenwald
Aline Fischer
Wulf Röschinger
Bernhard Liebl
Heinrich Schmidt
Uta Nennstiel
author_sort Birgit Odenwald
collection DOAJ
description After several decades of successful newborn screening (NBS) for congenital hypothyroidism, the optimal hypothyroidism NBS algorithm for very preterm infants is still controversial. Due to concerns about an elevated risk of a false-negative initial thyroid-stimulation hormone (TSH) screening, repeat NBS has been implemented for this group. While transient hypothyroidism is known to be more frequent among very preterm infants, the prevalence of permanent hypothyroidism is generally assumed to be the same as in more mature newborns. This study analyses screening and long-term follow-up data from the population-based cohort of 51 infants born from 1999–2017 at less than 32 weeks of gestation and diagnosed with hypothyroidism after NBS in the German Federal State of Bavaria (total number of infants screened 2,107,864). Severe permanent hypothyroidism was always detected at initial TSH screening unless there was a known confounding factor. Cases detected by repeat screening after a negative initial screen most frequently proved to be transient, less frequently mild permanent, or a definitive diagnosis was not possible because of inadequate re-evaluation of the thyroid axis. The prevalence of both permanent and transient hypothyroidism was elevated compared to a cohort of children from the same region born at a higher gestational age. The results seem to support the need for the repeated NBS of very preterm infants. However, as the recommendation to treat mild hypothyroidism is not based on high quality evidence, important issues for future research include treatment outcome studies or even a general review of whether this diagnosis meets the screening criteria. Meanwhile, involving a paediatric endocrinologist in treatment decisions is crucial for optimising the benefit of hypothyroidism screening for this particularly vulnerable group.
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spelling doaj.art-31f3b413f6ad43fa9dae3c125e75a41c2023-11-23T08:50:00ZengMDPI AGInternational Journal of Neonatal Screening2409-515X2021-10-01746510.3390/ijns7040065Long-Term Course of Hypothyroidism Detected through Neonatal TSH Screening in a Population-Based Cohort of Very Preterm Infants Born at Less than 32 Weeks of GestationBirgit Odenwald0Aline Fischer1Wulf Röschinger2Bernhard Liebl3Heinrich Schmidt4Uta Nennstiel5Newborn Screening Centre/State Institute of Health, Bavarian Health and Food Safety Authority, 85764 Oberschleissheim, GermanyPaediatric and Youth Medicine Clinic, Klinikum Dritter Orden, 80638 Munich, GermanyNewborn Screening Unit, Becker and Colleagues Laboratory, 81737 Munich, GermanyNewborn Screening Centre/State Institute of Health, Bavarian Health and Food Safety Authority, 85764 Oberschleissheim, GermanyPaediatric Endocrinology, Dr. von Hauner Children’s Hospital, Ludwig-Maximilians-University, 80337 Munich, GermanyNewborn Screening Centre/State Institute of Health, Bavarian Health and Food Safety Authority, 85764 Oberschleissheim, GermanyAfter several decades of successful newborn screening (NBS) for congenital hypothyroidism, the optimal hypothyroidism NBS algorithm for very preterm infants is still controversial. Due to concerns about an elevated risk of a false-negative initial thyroid-stimulation hormone (TSH) screening, repeat NBS has been implemented for this group. While transient hypothyroidism is known to be more frequent among very preterm infants, the prevalence of permanent hypothyroidism is generally assumed to be the same as in more mature newborns. This study analyses screening and long-term follow-up data from the population-based cohort of 51 infants born from 1999–2017 at less than 32 weeks of gestation and diagnosed with hypothyroidism after NBS in the German Federal State of Bavaria (total number of infants screened 2,107,864). Severe permanent hypothyroidism was always detected at initial TSH screening unless there was a known confounding factor. Cases detected by repeat screening after a negative initial screen most frequently proved to be transient, less frequently mild permanent, or a definitive diagnosis was not possible because of inadequate re-evaluation of the thyroid axis. The prevalence of both permanent and transient hypothyroidism was elevated compared to a cohort of children from the same region born at a higher gestational age. The results seem to support the need for the repeated NBS of very preterm infants. However, as the recommendation to treat mild hypothyroidism is not based on high quality evidence, important issues for future research include treatment outcome studies or even a general review of whether this diagnosis meets the screening criteria. Meanwhile, involving a paediatric endocrinologist in treatment decisions is crucial for optimising the benefit of hypothyroidism screening for this particularly vulnerable group.https://www.mdpi.com/2409-515X/7/4/65neonatal screeningthyroid-stimulation hormonecongenital hypothyroidismpreterm infantfollow-upre-evaluation
spellingShingle Birgit Odenwald
Aline Fischer
Wulf Röschinger
Bernhard Liebl
Heinrich Schmidt
Uta Nennstiel
Long-Term Course of Hypothyroidism Detected through Neonatal TSH Screening in a Population-Based Cohort of Very Preterm Infants Born at Less than 32 Weeks of Gestation
International Journal of Neonatal Screening
neonatal screening
thyroid-stimulation hormone
congenital hypothyroidism
preterm infant
follow-up
re-evaluation
title Long-Term Course of Hypothyroidism Detected through Neonatal TSH Screening in a Population-Based Cohort of Very Preterm Infants Born at Less than 32 Weeks of Gestation
title_full Long-Term Course of Hypothyroidism Detected through Neonatal TSH Screening in a Population-Based Cohort of Very Preterm Infants Born at Less than 32 Weeks of Gestation
title_fullStr Long-Term Course of Hypothyroidism Detected through Neonatal TSH Screening in a Population-Based Cohort of Very Preterm Infants Born at Less than 32 Weeks of Gestation
title_full_unstemmed Long-Term Course of Hypothyroidism Detected through Neonatal TSH Screening in a Population-Based Cohort of Very Preterm Infants Born at Less than 32 Weeks of Gestation
title_short Long-Term Course of Hypothyroidism Detected through Neonatal TSH Screening in a Population-Based Cohort of Very Preterm Infants Born at Less than 32 Weeks of Gestation
title_sort long term course of hypothyroidism detected through neonatal tsh screening in a population based cohort of very preterm infants born at less than 32 weeks of gestation
topic neonatal screening
thyroid-stimulation hormone
congenital hypothyroidism
preterm infant
follow-up
re-evaluation
url https://www.mdpi.com/2409-515X/7/4/65
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