Communicating cystic fibrosis newborn screening results to parents
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SHORT COMMUNICATION
Communicating cystic fibrosis newborn screening results to parents L. Seddon 1 & K. Dick 1 & S. B. Carr 1 & I. M. Balfour-Lynn 1 Received: 17 July 2020 / Revised: 29 September 2020 / Accepted: 5 October 2020 # The Author(s) 2020
Abstract The way results of cystic fibrosis (CF) newborn screening are communicated to parents is critical yet is done differently across the globe. We surveyed parents of 101 children in our tertiary London paediatric centre with a 48% response rate. Parental responses were as follows: 40/42 (95%) said the information could not have been given over the phone and 39/43 (91%) said they wanted both partners present; 27/42 (64%) said it was helpful having the health visitor also present; and 37/40 (92%) felt it was acceptable to wait until the next day for the sweat test. We have reduced the time from first contact to arriving in the home to 2–3 h. Conclusion: We believe that this survey backs up our approach of a home visit by a CF nurse specialist with the family’s health visitor to break the news. This is challenging in the current COVID-19 pandemic. What is Known: • Breaking bad news can have a lasting impact on parents when not done the right way. • Giving results of cystic fibrosis (CF) newborn screening is done differently within the UK and around the world. What is New: • Our parental survey revealed that the majority (92%) believed this should be done face to face and not over the telephone. • There was a mixed response to whether the parents should be told the genotype (assuming the CF centre knew), and thus the CF diagnosis before the confirmatory sweat test was carried out.
Keywords Cystic fibrosis . Newborn screening . Breaking bad news Abbreviations CF Cystic fibrosis CFSPID CF screen-positive inconclusive diagnosis
Communicated by Peter de Winter Electronic supplementary material The online version of this article (https://doi.org/10.1007/s00431-020-03829-8) contains supplementary material, which is available to authorized users. * I. M. Balfour-Lynn [email protected] L. Seddon [email protected] K. Dick [email protected] S. B. Carr [email protected] 1
Department of Paediatric Respiratory Medicine, Royal Brompton Hospital, Sydney Street, London SW3 6NP, UK
Introduction The UK cystic fibrosis (CF) newborn screening protocol uses the day 5–8 Guthrie card dried blood spot to measure immunoreactive trypsinogen (IRT). If the IRT is elevated > 99.5th centile, DNA analysis for 4 CFTR (CF transmembrane conductance regulator) mutations is measured, and in certain circumstances, a 2nd IRT measurement is made on day 21 (this is the IRT-DNA-IRT protocol) [1]. If only 1 mutation is detected initially, a further 50 gene mutations are tested. The screening laboratories inform the relevant CF specialist centre of a screen-positive result, and the centre contacts the parents to arrange a sweat test to confirm the diagnosis. This time is traumatic for parents and has long-lasting effects on how they handle their child’s CF care, which can be improved with good c
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