A European consensus for the evaluation and management of infants with an equivocal diagnosis following newborn screening for cystic fibrosis  S.J. Mayell,

Slides:



Advertisements
Similar presentations
Comparing age of cystic fibrosis diagnosis and treatment initiation after newborn screening with two common strategies  Don B. Sanders, Huichuan J. Lai,
Advertisements

Cheryl Cameron, Mark W. Lodes, William M. Gershan 
C. P. B. van der Ploeg, M. E. van den Akker-van Marle, A. M. M
Cystic Fibrosis Foundation and European Cystic Fibrosis Society Survey of cystic fibrosis mental health care delivery  J. Abbott, J.S. Elborn, A.M. Georgiopoulos,
Analysis of the CFTR gene in Iranian cystic fibrosis patients: Identification of eight novel mutations  Reza Alibakhshi, Roya Kianishirazi, Jean-Jacques.
Long-term follow-up of cystic fibrosis newborn screening: Psychosocial functioning of adolescents and young adults  Audrey Tluczek, Anita Laxova, Adam.
Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID): A new designation and management recommendations for infants with an inconclusive diagnosis.
Indicators of pulmonary exacerbation in cystic fibrosis: A Delphi survey of patients and health professionals  Fiona McCourt, Brenda O'Neill, Ian Logan,
CFTR mutation in an Arab patient: Clinical and functional features of 875+1G→A/875+1G→A genotype  Elide Spinelli, Manuela Seia, Paola Melotti, Eleonora.
The immediate effect of musculoskeletal physiotherapy techniques and massage on pain and ease of breathing in adults with cystic fibrosis  Annemarie Lee,
A 10-year large-scale cystic fibrosis carrier screening in the Italian population  Luigi Picci, Marilena Cameran, Oriana Marangon, Diana Marzenta, Stefano.
Is infection with hypermutable Pseudomonas aeruginosa clinically significant?  Adi Auerbach, Eitan Kerem, Marc Victor Assous, Elie Picard, Maskit Bar-Meir 
Zachary M. Sellers, Lori McGlocklin, Andrea Brasch 
Carlo Castellani, Kevin W
Megan R. Nelson, Craig R. Adamski, Audrey Tluczek 
Samantha A. Woodruff, Marci K. Sontag, Frank J. Accurso, Ronald J
CFTR gene analysis in Latin American CF patients: Heterogeneous origin and distribution of mutations across the continent  Martín M. Pérez, María Cecilia.
Urinary incontinence in 9���16��year olds with cystic fibrosis compared to other respiratory conditions and a normal group  W.J. Browne, C.J. Wood, M.
Nadav Traeger, Qiuhu Shi, Allen J. Dozor  Journal of Cystic Fibrosis 
Measures of body habitus are associated with lung function in adults with cystic fibrosis: A population-based study  Doug L. Forrester, Alan J. Knox,
Laura Viviani, Baroukh M. Assael, Eitan Kerem 
Cirrhosis and other liver disease in cystic fibrosis
The risk of gastrointestinal malignancies in cystic fibrosis
The ease of breathing test tracks clinical changes in cystic fibrosis
Delayed publication of clinical trials in cystic fibrosis
Controlled clinical trials in cystic fibrosis — are we doing better?
Cynthia M. Ward, Tara Brinkman, Keith J. Slifer, Shruti M. Paranjape 
Anju Anand, Elizabeth Tullis, Anne Stephenson, Preyanka Abhyankar 
D. Stevens, P.J. Oades, N. Armstrong, C.A. Williams 
Claire J. Tipping, Rebecca L. Scholes, Narelle S. Cox 
Implementation of European standards of care for cystic fibrosis ��� Control and treatment of infection  J.S. Elborn, M. Hodson, C. Bertram  Journal of.
Clinical presentation of mild cystic fibrosis in a Serbian patient homozygous for the CFTR mutation c G>A  Aleksandra Nikolic, Nedeljko Radlovic,
Measurement of fecal elastase improves performance of newborn screening for cystic fibrosis  Juerg Barben, Corina S. Rueegg, Maja Jurca, Johannes Spalinger,
A.H. Gifford  Journal of Cystic Fibrosis 
Inhalation solutions — Which ones may be mixed
Physiologic endpoints for clinical studies for cystic fibrosis
Antonia V. Bennett, Donald L. Patrick, James F. Lymp, Todd C
E. Tschiedel, H. Grasemann, F. Ratjen  Journal of Cystic Fibrosis 
The expansion and performance of national newborn screening programmes for cystic fibrosis in Europe  Jürg Barben, Carlo Castellani, Jeannette Dankert-Roelse,
Sally H. Pattison, Geraint B. Rogers, Martin Crockard, J
Anastasios Lekkas, Khin M. Gyi, Margaret E. Hodson 
Positive parental attitudes to participating in research involving newborn screened infants with CF  Jane Chudleigh, Ah-Fong Hoo, Deeba Ahmed, Ammani.
Nasal polyposis in lung transplant recipients with cystic fibrosis
Chee Y. Ooi, Peter R. Durie  Journal of Cystic Fibrosis 
D.Y.F. Mak, J. Sykes, A.L. Stephenson, L.C. Lands 
Novel concepts in evaluating antimicrobial therapy for bacterial lung infections in patients with cystic fibrosis  Geraint B. Rogers, Lucas R. Hoffman,
Danieli Barino Salinas, Patrick R
Effect of ivacaftor in patients with advanced cystic fibrosis and a G551D-CFTR mutation: Safety and efficacy in an expanded access program in the United.
Australian epidemic strain pseudomonas (AES-1) declines further in a cohort segregated cystic fibrosis clinic  Amanda L. Griffiths, Danielle F. Wurzel,
Nutritional decline in cystic fibrosis related diabetes: The effect of intensive nutritional intervention  H. White, K. Pollard, C. Etherington, I. Clifton,
Gender differences in treatment adherence among youth with cystic fibrosis: Development of a new questionnaire  Joän M. Patterson, Melanie Wall, Jerica.
Segregation of children with CF diagnosed via newborn screening and acquisition of Pseudomonas aeruginosa  Karen O. McKay, Peter J. Cooper, Peter P. van.
F. Vermeulen, P. Lebecque, K. De Boeck, T. Leal 
Comparing age of cystic fibrosis diagnosis and treatment initiation after newborn screening with two common strategies  Don B. Sanders, Huichuan J. Lai,
Newsome S.J. , Daniel R.M. , Carr S.B. , Bilton D. , Keogh R.H.  
H. White, A.M. Morton, S.P. Conway, D.G. Peckham 
J.E. Spahr, R.B. Love, M. Francois, K. Radford, K.C. Meyer 
L. Uppaluri, S.J. England, T.F. Scanlin  Journal of Cystic Fibrosis 
Michael W. Konstan, David J. Pasta, Jeffrey S. Wagener, Donald R
CFTR modulators and pregnancy: Our work has only just begun
L. Nshimyumukiza, A. Bois, P. Daigneault, L. Lands, A. -M. Laberge, D
Beta-lactam allergy in adults with cystic fibrosis
Cheryl Cameron, Mark W. Lodes, William M. Gershan 
A survey of newborn screening for cystic fibrosis in Europe
Lutz Goldbeck, Sven Zerrer, Tim G. Schmitz  Journal of Cystic Fibrosis 
David Adeboyeku, Sandra Scott, Margaret E. Hodson 
Elisabeth P. Dellon, Margaret W. Leigh, James R. Yankaskas, Terry L
Improved early diagnosis of Pseudomonas aeruginosa by real-time PCR to prevent chronic colonisation in a paediatric cystic fibrosis population  Elaine.
Absence of a gender gap in survival
Respiratory physicians and clinic coordinators' attitudes to population-based cystic fibrosis carrier screening  Fiona Cunningham, Sharon Lewis, Lisette.
Presentation transcript:

A European consensus for the evaluation and management of infants with an equivocal diagnosis following newborn screening for cystic fibrosis  S.J. Mayell, A. Munck, J.V. Craig, I. Sermet, K.G. Brownlee, M.J. Schwarz, C. Castellani, K.W. Southern  Journal of Cystic Fibrosis  Volume 8, Issue 1, Pages 71-78 (January 2009) DOI: 10.1016/j.jcf.2008.09.005 Copyright © 2008 Terms and Conditions

Fig. 1 The stages and outcomes of the modified Delphi method. Journal of Cystic Fibrosis 2009 8, 71-78DOI: (10.1016/j.jcf.2008.09.005) Copyright © 2008 Terms and Conditions

Fig. 2 The pathway of interventions that infants with an equivocal diagnosis may follow according to the results of this consensus process. The two distinct presentations of these infants (equivocal sweat test or two CFTR gene mutations of unclear clinical significance) represent the starting points at the top of the figure. The progress of the infant is then tracked following the repeat sweat test in an experienced centre. Subsequent interventions depend to some degree on the result of the repeat sweat test. The numbers indicate the consensus statement (Table 1) that corresponds to that part of the pathway. An important point to note is that infants who enter the pathway with an equivocal sweat test and then have a normal repeat sweat test do not require extended gene analysis or further clinical review (although some may require advice regarding carrier status). Clinical assessment for evidence of CF is considered important with respect to determining subsequent review arrangements (infants with any clinical evidence supporting a CF diagnosis should be seen in a specialist CF clinic). ⁎ One of which has unclear clinical significance. † In a centre with suitable experience (Appendix A). ‡ Normal=sweat Cl <30 mmol l−1, equivocal=sweat Cl≥30 and <60 mmol l−1, raised=sweat Cl≥60 mmol l−1. Journal of Cystic Fibrosis 2009 8, 71-78DOI: (10.1016/j.jcf.2008.09.005) Copyright © 2008 Terms and Conditions