Processing of Positive Newborn Screening Results for Congenital Hypothyroidism: A Qualitative Exploration of Current Practice in England.

Pru Holder,Tim Cheetham,Jane Chudleigh,Alessandra Cocca,Holly Chinnery

doi:10.3390/ijns7040064

Abstract

The objective of this research was to explore current communication practices for positive newborn bloodspot screening results for congenital hypothyroidism from the newborn bloodspot screening laboratory to clinicians and then families, in order to (i) understand how the pathway is implemented in practice, (ii) highlight regional differences and (iii) identify barriers and facilitators. A qualitative exploratory design was employed using semi-structured interviews across 13 newborn bloodspot screening laboratories in England. Participants included 35 clinicians and 17 NBS laboratory staff across the 13 laboratories and 18 members of relevant clinical teams. Findings illuminated variations in how positive newborn bloodspot screening results for congenital hypothyroidism are communicated in practice. This included regional variations due to historical arrangements and local resources. Contacting the appropriate person could be challenging and obtaining feedback from clinical teams to the laboratory after the child has been seen could be time consuming for those involved. Standardised communication model(s) for positive newborn bloodspot screening results for congenital hypothyroidism, which include named contact individuals, defined pathways of care and processes for feeding back to laboratories, may help to ensure the process is less labour intensive, particularly from a laboratory perspective.

Highlights

Primary congenital hypothyroidism (CHT) affects around 1 in 2000 babies in the United Kingdom every year [1] and between 1:2000 and 1:4000 worldwide [2]
Four themes were identified from the data; the first three—method of referral from laboratory to clinical team, communication of presumptive positive’ (PP) results from clinicians to families and arrangement of first appointment—focused on referral from the laboratory to clinicians, while the final theme focused on feedback from clinical team to laboratory
Clinicians in the present study indicated that timing of the first clinic appointment was not consistent between trusts, which demonstrates a possible lack of parity in terms of provision of care for families who have received a positive Newborn bloodspot screening (NBS) result for CHT

Summary

Introduction

Primary congenital hypothyroidism (CHT) affects around 1 in 2000 babies in the United Kingdom every year [1] and between 1:2000 and 1:4000 worldwide [2]. In the United Kingdom, NBS for CHT was initiated in 1981 to provide the earliest possible diagnosis and intervention for babies affected. UK national guidelines for NBS [5] define a ‘negative’ result as having a TSH concentration of < 6.0 mU/L WB (the analytical cut-off). Such results are reported as ‘CHT not suspected’. Samples with TSH greater than or equal to the analytical cut-off are retested in duplicate from the same card to generate a triplicate mean result. A triplicate mean TSH concentration of < 8.0 mU/L WB (the action cut-off) is classed as a ‘negative’ result and is reported as ‘CHT not suspected’ [5,8]

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Discussion

Conclusion