scholarly journals Communicating cystic fibrosis newborn screening results to parents

2020 ◽  
Author(s):  
L. Seddon ◽  
K. Dick ◽  
S. B. Carr ◽  
I. M. Balfour-Lynn
Keyword(s):  
Cystic Fibrosis ◽  
Newborn Screening ◽  
Health Visitor ◽  
Sweat Test ◽  
Nurse Specialist ◽  
Face To Face ◽  
Breaking Bad ◽  
Mixed Response ◽  
The Uk ◽  
The Right

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.

Cystic fibrosis newborn screening: outcome of infants with normal sweat tests

2017 ◽  
Vol 103 (8) ◽  
pp. 753-756 ◽  
Author(s):  
Claire Edmondson ◽  
Christopher Grime ◽  
Ammani Prasad ◽  
Jacqui Cowlard ◽  
Chinedu E C Nwokoro ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Newborn Screening ◽  
Genome Sequencing ◽  
Dna Analysis ◽  
Gene Mutations ◽  
High Serum ◽  
Sweat Test ◽  
Sweat Chloride ◽  
South East England

Newborn babies positively screened for cystic fibrosis (CF) (high serum immunoreactive trypsin (IRT) with DNA analysis) are referred for a diagnostic sweat test, which may be normal (sweat chloride <30 mmol/L). Unless two gene mutations are identified during Newborn screening (NBS), the babies are discharged from follow-up. We wished to check that none had subsequently developed symptoms suggestive of CF. We retrospectively reviewed patient notes and contacted general practitioners of all babies with a negative sweat test, conducted in one of the four paediatric specialist CF centres in London, over the first 6 years of screening in South East England.Of 511 babies referred, 95 (19%) had a normal sweat test. Five (5%) had CF diagnosed genetically, two of them on extended genome sequencing after clinical suspicion. Eleven (12%) were designated as CF screen positive inconclusive diagnosis (CFSPID); one of the five CF children was originally designated as CFSPID. Seventy-nine (83%) were assumed to be false-positive cases and discharged; follow-up data were available for 51/79 (65%); 32/51 (63%) had no health issues, 19/51 (37%) had other significant non-CF pathology.These results are reassuring in that within the limitations of those lost to follow-up, CF symptoms have not emerged in the discharged children. The high non-CF morbidity in these children may relate to known causes of high IRT at birth. Clinicians need to be aware that a child can have CF despite a normal sweat test following NBS, and if symptoms suggest the diagnosis, further testing, including extended genome sequencing, is required.

scholarly journals Optimization of the French cystic fibrosis newborn screening programme by a centralized tracking process

2017 ◽  
Vol 25 (1) ◽  
pp. 6-12 ◽  
Author(s):  
Anne Munck ◽  
Dominique Delmas ◽  
Marie-Pierre Audrézet ◽  
Lydie Lemonnier ◽  
David Cheillan ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Positive Predictive Value ◽  
Newborn Screening ◽  
Predictive Value ◽  
Screening Strategy ◽  
Sweat Test ◽  
Initial Visit ◽  
Tracking Process ◽  
Monitoring Process ◽  
European Standards

Objectives To evaluate the French cystic fibrosis newborn screening algorithm, based on data tracked by a centralized monitoring process, from 2002 to 2014. The programme aimed to attain European Standards in terms of positive predictive value, sensitivity, the ratio of screen positive patients diagnosed with cystic fibrosis to infants who screen positive but with inconclusive diagnosis (CFSPID), and time to diagnosis. Methods Retrospective analysis of programme performance, compliance with the algorithm, and changes in screening strategy. Results Modifications in the flow chart protocol improved the positive predictive value to 0.31 while maintaining the sensitivity at 0.95. Among infants diagnosed with cystic fibrosis, or identified as CFSPID, sweat test results were obtained for 94%, and two mutations were identified after exhaustive screening for the gene, when applicable, in 99.6%. The rate of pending diagnosis was very low (0.5%). The ratio of infants with cystic fibrosis:CFSPID was 6.3:1. Age at initial visit at the CF centre was ≤ 35 days, respectively, in 53%/26%. Conclusion Performances were in agreement with European standards, but timeliness of initial visit needed improvement. Our data complement an accumulating body of evidence demonstrating that attention must be paid to such ethical considerations as limiting carrier detection and inconclusive diagnosis. Newborn screening programmes should have a rigorous centralized monitoring process to warrant adjustments for improving performance to attain consensus guidelines.

scholarly journals Erratum to: Quality of sweat test (ST) based on the proportion of sweat sodium (Na) and sweat chloride (Cl) as diagnostic parameter of cystic fibrosis: are we on the right way?

2017 ◽  
Vol 12 (1) ◽  
Author(s):  
Alethéa Guimarães Faria ◽  
Fernando Augusto Lima Marson ◽  
Carla Cristina de Souza Gomez ◽  
Maria Ângela Gonçalves de Oliveira Ribeiro ◽  
Lucas Brioschi Morais ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Sweat Test ◽  
Diagnostic Parameter ◽  
Sweat Chloride ◽  
The Right ◽  
Sweat Sodium

Parental Understanding of Newborn Screening for Cystic Fibrosis After a Negative Sweat-Test

PEDIATRICS ◽  
2011 ◽  
Vol 127 (2) ◽  
pp. 276-283 ◽  
Author(s):  
C. W. Lang ◽  
S. A. McColley ◽  
L. A. Lester ◽  
L. F. Ross
Keyword(s):  
Cystic Fibrosis ◽  
Newborn Screening ◽  
Sweat Test
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