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

Abstract

ObjectivesTo 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 methodsReferrals between 1980 and 2014 inclusive were grouped into seven 5-year blocks and analysed according to agreed standards.ResultsOf 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.ConclusionMost 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.

Neonatal Screening for Congenital Hypothyroidism in Romania: Data From Medilog Medical Information Registry

“…Confirmation of the diagnosis was established at 8.4 days and therapy was started at 11 days (19). Analyzing trends in neonatal screening for CH using a Scottish registry, median age at first sampling fell from 7 to 5 days between 1980 and 2014, median notification age after initial sampling was 11 days from 1990 (20). Only 8% of infants breached the ≤14 day standard of notification after first sample result in 2010-2014, and 14.6% of infants undergoing second sampling from 2000 onwards breached the ≤26day standard for notification (range 7-32 days in 2010-2014).…”

“…Only 8% of infants breached the ≤14 day standard of notification after first sample result in 2010-2014, and 14.6% of infants undergoing second sampling from 2000 onwards breached the ≤26day standard for notification (range 7-32 days in 2010-2014). Confirmed CH cases started therapy at 10.5 days after birth (20).…”

Newborn Screening and Molecular Profile of Congenital Hypothyroidism in a Chinese Population

“… Wassner and Brown (2015) reported that the apparent incidence of CH has more than doubled in recent years ranging from 1:2800 to 1:1400. Meanwhile, countries, such as the United States ( Mitchell et al, 2011 ), Canada ( Deladoëy et al, 2011 ), New Zealand ( Heather et al, 2017 ), Scotland ( Mansour et al, 2017 ), Brazil ( Silvestrin et al, 2017 ), reported slight differences. In our study, there was no significant difference in the incidence of CH between males and females, consistent with the study by Zhao et al (2016) .…”

Transient hypothyroidism in the newborn: to treat or not to treat

“…Another study of the Scottish Congenital Hypothyroid database over a period of 34 years (1980 to 2014), screened 2,116,132 newborns, of whom 919 infants (1:2,300) were referred with TSH elevation: 606 (65.9%) with definite CH, 18 (2.0%) with probable CH, 51 (5.5%) with status uncertain, and 211 (23.0%) with transient TSH elevation (7).…”