Trends in Scottish newborn screening programme for congenital hypothyroidism 1980-2014: strategies for reducing age at notification after initial and repeat sampling

Mansour, C., Ouarezki, Y., Jones, J., Fitch, M., Smith, S., Mason, A. and Donaldson, M. (2017) Trends in Scottish newborn screening programme for congenital hypothyroidism 1980-2014: strategies for reducing age at notification after initial and repeat sampling. Archives of Disease in Childhood, 102(10), pp. 936-941. (doi: 10.1136/archdischild-2016-312156) (PMID:28600385)

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Abstract

Objectives: To determine ages at first capillary sampling and notification and age at notification after second sampling in Scottish newborns referred with elevated thyroid-stimulating hormone (TSH). Subjects and methods: Referrals between 1980 and 2014 inclusive were grouped into seven 5-year blocks and analysed according to agreed standards. Results: Of 2 116 132 newborn infants screened, 919 were referred with capillary TSH elevation ≥8 mU/L of whom 624 had definite (606) or probable (18) congenital hypothyroidism. Median age at first sampling fell from 7 to 5 days between 1980 and 2014 (standard 4–7 days), with 22, 8 and 3 infants sampled >7 days during 2000–2004, 2005–2009 and 2010–2014. Median age at notification was consistently ≤14 days, range falling during 2000–2004, 2005–2009 and 2010–2014 from 6 to 78, 7–52 and 7–32 days with 12 (14.6%), 6 (5.6%) and 5 (4.3%) infants notified >14 days. However 18/123 (14.6%) of infants undergoing second sampling from 2000 onwards breached the ≤26-day standard for notification. By 2010–2014, the 91 infants with confirmed congenital hypothyroidism had shown favourable median age at first sample (5 days) with start of treatment (10.5 days) approaching age at notification. Conclusion: Most standards for newborn thyroid screening are being met by the Scottish programme, but there is a need to reduce age range at notification, particularly following second sampling. Strategies to improve screening performance include carrying out initial capillary sampling as close to 96 hours as possible; introducing 6-day laboratory reporting and use of electronic transmission for communicating repeat requests.

Item Type:Articles
Keywords:Guthrie sample, newborn screening, capillary thyroid stimulating hormone, congenital hypothyroidism, free thyroxine, notification.
Status:Published
Refereed:Yes
Glasgow Author(s) Enlighten ID:Smith, Dr Sarah and Jones, Mr Jeremy and Mason, Dr Avril and Donaldson, Dr Malcolm
Authors: Mansour, C., Ouarezki, Y., Jones, J., Fitch, M., Smith, S., Mason, A., and Donaldson, M.
College/School:College of Medical Veterinary and Life Sciences > School of Medicine, Dentistry & Nursing
Journal Name:Archives of Disease in Childhood
Publisher:BMJ Publishing Group
ISSN:0003-9888
ISSN (Online):1468-2044
Published Online:09 June 2017
Copyright Holders:Copyright © 2017 The Authors
First Published:First published in Archives of Disease in Childhood 102(10): 936-941
Publisher Policy:Reproduced under a Creative Commons License

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