References
1. Machogu E, Ren CL. Novel insights into the diagnostic and therapeutic
challenges of the CFTR metabolic syndrome/CF screen positive
indeterminate diagnosis. Pediatr Pulmonol. 2016;51(S44):S45-S8.
2. Tridello G, Castellani C, Meneghelli I, Tamanini A, Assael BM. Early
diagnosis from newborn screening maximises survival in severe cystic
fibrosis. ERJ Open Res. 2018;4(2).
3. Ren CL, Borowitz DS, Gonska T, Howenstine MS, Levy H, Massie J, et
al. Cystic Fibrosis Transmembrane Conductance Regulator-Related
Metabolic Syndrome and Cystic Fibrosis Screen Positive, Inconclusive
Diagnosis. J Pediatr. 2017;181S:S45-S51 e1.
4. Southern KW, Barben J, Gartner S, Munck A, Castellani C, Mayell SJ,
et al. Inconclusive diagnosis after a positive newborn bloodspot
screening result for cystic fibrosis; clarification of the harmonised
international definition. J Cyst Fibros. 2019;18(6):778-80.
5. Johnson F, Southern KW, Ulph F. Psychological Impact on Parents of an
Inconclusive Diagnosis Following Newborn Bloodspot Screening for Cystic
Fibrosis: A Qualitative Study. Int J Neonatal Screen. 2019;5(2):23
6. Barben J, Castellani C, Munck A, Davies JC, de Winter-de Groot KM,
Gartner S, et al. Updated guidance on the management of children with
cystic fibrosis transmembrane conductance regulator-related metabolic
syndrome/cystic fibrosis screen positive, inconclusive diagnosis
(CRMS/CFSPID). J Cyst Fibros. 2021;20(5):810-9.
7. Ooi CY, Castellani C, Keenan K, Avolio J, Volpi S, Boland M, et al.
Inconclusive diagnosis of cystic fibrosis after newborn screening.
Pediatrics. 2015;135(6):e1377-85.
8. Kharrazi M, Yang J, Bishop T, Lessing S, Young S, Graham S, et al.
Newborn Screening for Cystic Fibrosis in California. Pediatrics.
2015;136(6):1062-72
9. LeGrys VA, Yankaskas JR, Quittell LM, Marshall BC, Mogayzel PJ, Jr.,
Cystic Fibrosis F. Diagnostic sweat testing: the Cystic Fibrosis
Foundation guidelines. J Pediatr. 2007;151(1):85-9.
10. Ben Saad H, El Attar MN, Hadj Mabrouk K, Ben Abdelaziz A, Abdelghani
A, Bousarssar M, et al. The recent multi-ethnic global lung initiative
2012 (GLI2012) reference values don’t reflect contemporary adult’s North
African spirometry. Respir Med. 2013;107(12):2000-8.
11. Kasi AS, Wee CP, Keens TG, Salinas DB. Abnormal Lung Clearance Index
in Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID)
Children with Otherwise Normal FEV1. Lung. 2020;198(1):163-7.
12. Beydon N, Davis SD, Lombardi E, Allen JL, Arets HG, Aurora P, et al.
An official American Thoracic Society/European Respiratory Society
statement: pulmonary function testing in preschool children. Am J Respir
Crit Care Med. 2007;175(12):1304-45.
13. Anagnostopoulou P, Latzin P, Jensen R, Stahl M, Harper A, Yammine S,
et al. Normative data for multiple breath washout outcomes in
school-aged Caucasian children. Eur Respir J. 2020;55(4).
14. Quittner AL, Buu A, Messer MA, Modi AC, Watrous M. Development and
validation of The Cystic Fibrosis Questionnaire in the United States: a
health-related quality-of-life measure for cystic fibrosis. Chest.
2005;128(4):2347-54.
15. Rosenfeld M, Faino AV, Onchiri F, Aksit MA, Blackman SM, Blue EE, et
al. Comparing encounter-based and annualized chronic pseudomonas
infection definitions in cystic fibrosis. J Cyst Fibros. 2021.
16. Farrell PM, White TB, Ren CL, Hempstead SE, Accurso F, Derichs N, et
al. Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic
Fibrosis Foundation. J Pediatr. 2017;181S:S4-S15 e1.
17. Brewington JJ, Filbrandt ET, LaRosa FJ, 3rd, Ostmann AJ, Strecker
LM, Szczesniak RD, et al. Detection of CFTR function and modulation in
primary human nasal cell spheroids. J Cyst Fibros. 2018;17(1):26-33.
18. Brewington JJ, Filbrandt ET, LaRosa FJ, 3rd, Moncivaiz JD, Ostmann
AJ, Strecker LM, et al. Brushed nasal epithelial cells are a surrogate
for bronchial epithelial CFTR studies. JCI Insight. 2018;3(13).
19. Ginsburg D, Wee CP, Reyes MC, Brewington JJ, Salinas DB. When CFSPID
becomes CF. J Cyst Fibros. 2021.
20. Salinas DB, Azen C, Young S, Keens TG, Kharrazi M, Parad RB.
Phenotypes of California CF Newborn Screen-Positive Children with CFTR
5T Allele by TG Repeat Length. Genet Test Mol Biomarkers.
2016;20(9):496-503.
21. Terlizzi V, Claut L, Tosco A, Colombo C, Raia V, Fabrizzi B, et al.
A survey of the prevalence, management and outcome of infants with an
inconclusive diagnosis following newborn bloodspot screening for cystic
fibrosis (CRMS/CFSPID) in six Italian centres. J Cyst Fibros.
2021;20(5):828-34.
22. Mishra A, Greaves R, Smith K, Carlin JB, Wootton A, Stirling R, et
al. Diagnosis of cystic fibrosis by sweat testing: age-specific
reference intervals. J Pediatr. 2008;153(6):758-63.
23. Sinha A, Southern KW. Cystic fibrosis transmembrane conductance
regulator-related metabolic syndrome/cystic fibrosis screen positive,
inconclusive diagnosis (CRMS/CFSPID). Breathe (Sheff).
2021;17(3):210088.
24. Groman JD, Hefferon TW, Casals T, Bassas L, Estivill X, Des Georges
M, et al. Variation in a repeat sequence determines whether a common
variant of the cystic fibrosis transmembrane conductance regulator gene
is pathogenic or benign. Am J Hum Genet. 2004;74(1):176-9.
25. Prach L, Koepke R, Kharrazi M, Keiles S, Salinas DB, Reyes MC, et
al. Novel CFTR variants identified during the first 3 years of cystic
fibrosis newborn screening in California. J Mol Diagn. 2013;15(5):710-22
26. Aurora P, Stanojevic S, Wade A, Oliver C, Kozlowska W, Lum S, et al.
Lung clearance index at 4 years predicts subsequent lung function in
children with cystic fibrosis. Am J Respir Crit Care Med.
2011;183(6):752-8.
27. Munck A, Bourmaud A, Bellon G, Picq P, Farrell PM, Group DS.
Phenotype of children with inconclusive cystic fibrosis diagnosis after
newborn screening. Pediatr Pulmonol. 2020;55(4):918-28.
28. Ellemunter H, Fuchs SI, Unsinn KM, Freund MC, Waltner-Romen M,
Steinkamp G, et al. Sensitivity of Lung Clearance Index and chest
computed tomography in early CF lung disease. Respir Med.
2010;104(12):1834-42.
29. Bishop MD, Freedman SD, Zielenski J, Ahmed N, Dupuis A, Martin S, et
al. The cystic fibrosis transmembrane conductance regulator gene and ion
channel function in patients with idiopathic pancreatitis. Hum Genet.
2005;118(3-4):372-81.
30. Thauvin-Robinet C, Munck A, Huet F, Genin E, Bellis G, Gautier E, et
al. The very low penetrance of cystic fibrosis for the R117H mutation: a
reappraisal for genetic counselling and newborn screening. J Med Genet.
2009;46(11):752-8.
31. Gonska T, Keenan K, Au J, Dupuis A, Chilvers MA, Burgess C, et al.
Outcomes of Cystic Fibrosis Screening-Positive Infants With Inconclusive
Diagnosis at School Age. Pediatrics. 2021;148(6).
32. Bombieri C, Claustres M, De Boeck K, Derichs N, Dodge J, Girodon E,
et al. Recommendations for the classification of diseases as
CFTR-related disorders. J Cyst Fibros. 2011;10 Suppl 2:S86-102.
33. Borowitz D, Robinson KA, Rosenfeld M, Davis SD, Sabadosa KA, Spear
SL, et al. Cystic Fibrosis Foundation evidence-based guidelines for
management of infants with cystic fibrosis. J Pediatr. 2009;155(6
Suppl):S73-93.
34. Serebrisky D, Wiznia A. Pediatric Asthma: A Global Epidemic. Ann
Glob Health. 2019;85(1).
35. Miller AC, Comellas AP, Hornick DB, Stoltz DA, Cavanaugh JE, Gerke
AK, et al. Cystic fibrosis carriers are at increased risk for a wide
range of cystic fibrosis-related conditions. Proc Natl Acad Sci U S A.
2020;117(3):1621-7.
36. Borowitz D, Parad RB, Sharp JK, Sabadosa KA, Robinson KA, Rock MJ,
et al. Cystic Fibrosis Foundation practice guidelines for the management
of infants with cystic fibrosis transmembrane conductance
regulator-related metabolic syndrome during the first two years of life
and beyond. J Pediatr. 2009;155(6 Suppl):S106-16.
37. Rasmussen LW, Stanford D, Patel K, Raju SV. Evaluation of secondhand
smoke effects on CFTR function in vivo. Respir Res. 2020;21(1):70.
38. Ren CL, Fink AK, Petren K, Borowitz DS, McColley SA, Sanders DB, et
al. Outcomes of infants with indeterminate diagnosis detected by cystic
fibrosis newborn screening. Pediatrics. 2015;135(6):e1386-92.
39. Salinas DB, Sosnay PR, Azen C, Young S, Raraigh KS, Keens TG, et al.
Benign and Deleterious Cystic Fibrosis Transmembrane Conductance
Regulator Mutations Identified by Sequencing in Positive Cystic Fibrosis
Newborn Screen Children from California. PLoS One. 2016;11(5):e0155624.
40. Chudleigh J, Barben J, Ren CL, Southern KW. International Approaches
to Management of CFTR-Related Metabolic Syndrome/Cystic Fibrosis Screen
Positive, Inconclusive Diagnosis. Int J Neonatal Screen. 2022;8(1).