Neonatal Screening for Cystic Fibrosis: A Meta Analysis Study

Ashraf Mahmood; Divya Rajmohan; Shahnawaz Hashmi; Shayan Faiq; Adewale Plumptre; Robert Soltes; Zahir Faruqi; Lubna Attal

doi:doi:10.11648/j.ajp.20190504.16

Neonatal Screening for Cystic Fibrosis: A Meta Analysis Study

Ashraf Mahmood, Divya Rajmohan, Shahnawaz Hashmi, Shayan Faiq, Adewale Plumptre, Robert Soltes, Zahir Faruqi, Lubna Attal

Published in American Journal of Pediatrics (Volume 5, Issue 4)

Received: 11 June 2019 Accepted: 11 September 2019 Published: 9 October 2019

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Abstract

Objective: The main goal of this literature review is to investigate and compare the current screening procedures for the diagnosis of cystic fibrosis in neonates. Cystic Fibrosis or CF is a lethal, genetic disease. The disease is neither too widespread nor too rare. There are more than 30,000 CF patients in the United States, and the number of CF carriers is still unidentified. CF affects more than one organ system in patient’s body; due to this, there is no definitive treatment plan for the disease. The cure is dependent on the results of prenatal and postnatal diagnosis. The patients may exhibit all or few symptoms associated with the disease. Sometimes, symptoms are completely absent at the time of birth and become more prevalent with the age. Methods & Materials: We extensively studied the peer-reviewed scientific journals to understand the existing diagnostic and screening methods for cystic fibrosis. During our research, we kept the focus on newborn screening and evaluated the clinical data from previous studies. We retrieved tables and figures from electronic databases to indicate these results more effectively. We also analyzed the available information on sensitivity, specificity, positive predictive value and negative predictive value of these screening programs. Result & Conclusion: The data indicates that sensitivity of neonatal screening programs is less than 90% (or even below 80% in some cases) when only one test is performed. However, sensitivity increases as the multi-stage approach is adopted. Besides, the CF detection rate is also influenced by multiple factors including ethnicity and age of the patient, duration of the study, type of CFTR mutation, nutritional habits, etc. Many studies need to be carried out to determine optimal cutoff values for both IRT and the sweat test. Genomics and computational biology can be used not only in identifying the other important CFTR mutations, but also in evaluating their impact on the patient’s body.

Published in	American Journal of Pediatrics (Volume 5, Issue 4)
DOI	10.11648/j.ajp.20190504.16
Page(s)	200-208
Creative Commons	This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited.
Copyright	Copyright © The Author(s), 2019. Published by Science Publishing Group

Keywords

Cystic Fibrosis, Symptoms, Signs of Cystic Fibrosis, Newborn Screening for Cystic Fibrosis, IRT, CFTR Mutations, Sweat Chloride Tests, Meconium Ileus, Nasal Potential Difference

References

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[5]	Newborn Screening. Centers for Disease Control and Prevention.
[6]	Crossley JR, Elliott RB, Smith PA. Dried-blood spot screening for cystic fibrosis in the newborn. Lancet. 1979; 1: 472–4. PubMed.
[7]	Mishra, A. et al. The Relevance of Sweat Testing for the Diagnosis of Cystic Fibrosis in the Genomic Era. Clin Biochem Revv. 26 (4); 2005 Nov PMC1320177. PubMed.
[8]	Gibson, L. & Cooke, R. A TEST FOR CONCENTRATION OF ELECTROLYTES IN SWEAT IN CYSTIC FIBROSIS OF THE PANCREAS UTILIZING PILOCARPINE BY IONTOPHORESIS. PediatricsMarch 1959, VOLUME 23/ISSUE 3. PubMed.
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[10]	Schutt, W. H. Isles TE. Arch Dis Child 1968; 43: 178-81. Protein in meconium from meconium ileus.
[11]	Gregg, R. et al. Application of DNA Analysis in a Population-screening Program for Neonatal Diagnosis of Cystic Fibrosis (CF): Comparison of Screening Protocols. Am. J. Hum. Genet. 52: 616-626, 1993. PubMed.
[12]	Murray, J. et al. Screening for Cystic Fibrosis. Health Technology Assessment 1999; Vol. 3, No. 8, page 35-56, Pubmed.
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[16]	Baker, M. et al. OPTIMAL DNA TIER FOR THE IRT/DNA ALGORITHM DETERMINED BY CFTR MUTATION RESULTS OVER 14 YEARS OF NEWBORN SCREENING. J Cyst Fibros. 2011 Jul; 10 (4): 278–281. PubMed.
[17]	Cortés, E. et al. Differences in immunoreactive trypsin values between the type of feeding and ethnicity in Neonatal cystic fibrosis screening: a cross-sectional study Orphanet J Rare Dis. 2014; 9: 166. PubMed.
[18]	Lewis PA. et al. The Epidemiology of Cystic Fibrosis. In: Hodson ME, Geddes DM, editors. Cystic Fibrosis. 2. London: Arnold; 2000. pp. 13–25. PubMed.
[19]	Matter AC et al. Comparison between classic Gibson and Cooke technique and sweat conductivity test in patients with and without cystic fibrosis. J Pediatr (Rio J). 2010 Mar-Apr; 86 (2): 109-14. SciELO.
[20]	Domingos, M. et al. Sweat conductivity and coulometric quantitative test in Neonatal cystic fibrosis screening. Jornal de Pediatria vol. 91 issue 6, November-December 2015: 590-595. PubMed.
[21]	Vernooij, A. et al. Clinical evaluation of the Nanoduct sweat test system in the diagnosis of cystic fibrosis after newborn screening. European Journal of Pediatrics August 2015, Volume 174, Issue 8, pp 1025-1034. PubMed.
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APA Style

Ashraf Mahmood, Divya Rajmohan, Shahnawaz Hashmi, Shayan Faiq, Adewale Plumptre, et al. (2019). Neonatal Screening for Cystic Fibrosis: A Meta Analysis Study. American Journal of Pediatrics, 5(4), 200-208. https://doi.org/10.11648/j.ajp.20190504.16

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ACS Style

Ashraf Mahmood; Divya Rajmohan; Shahnawaz Hashmi; Shayan Faiq; Adewale Plumptre, et al. Neonatal Screening for Cystic Fibrosis: A Meta Analysis Study. Am. J. Pediatr. 2019, 5(4), 200-208. doi: 10.11648/j.ajp.20190504.16

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AMA Style

Ashraf Mahmood, Divya Rajmohan, Shahnawaz Hashmi, Shayan Faiq, Adewale Plumptre, et al. Neonatal Screening for Cystic Fibrosis: A Meta Analysis Study. Am J Pediatr. 2019;5(4):200-208. doi: 10.11648/j.ajp.20190504.16

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@article{10.11648/j.ajp.20190504.16,
  author = {Ashraf Mahmood and Divya Rajmohan and Shahnawaz Hashmi and Shayan Faiq and Adewale Plumptre and Robert Soltes and Zahir Faruqi and Lubna Attal},
  title = {Neonatal Screening for Cystic Fibrosis: A Meta Analysis Study},
  journal = {American Journal of Pediatrics},
  volume = {5},
  number = {4},
  pages = {200-208},
  doi = {10.11648/j.ajp.20190504.16},
  url = {https://doi.org/10.11648/j.ajp.20190504.16},
  eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ajp.20190504.16},
  abstract = {Objective: The main goal of this literature review is to investigate and compare the current screening procedures for the diagnosis of cystic fibrosis in neonates. Cystic Fibrosis or CF is a lethal, genetic disease. The disease is neither too widespread nor too rare. There are more than 30,000 CF patients in the United States, and the number of CF carriers is still unidentified. CF affects more than one organ system in patient’s body; due to this, there is no definitive treatment plan for the disease. The cure is dependent on the results of prenatal and postnatal diagnosis. The patients may exhibit all or few symptoms associated with the disease. Sometimes, symptoms are completely absent at the time of birth and become more prevalent with the age. Methods & Materials: We extensively studied the peer-reviewed scientific journals to understand the existing diagnostic and screening methods for cystic fibrosis. During our research, we kept the focus on newborn screening and evaluated the clinical data from previous studies. We retrieved tables and figures from electronic databases to indicate these results more effectively. We also analyzed the available information on sensitivity, specificity, positive predictive value and negative predictive value of these screening programs. Result & Conclusion: The data indicates that sensitivity of neonatal screening programs is less than 90% (or even below 80% in some cases) when only one test is performed. However, sensitivity increases as the multi-stage approach is adopted. Besides, the CF detection rate is also influenced by multiple factors including ethnicity and age of the patient, duration of the study, type of CFTR mutation, nutritional habits, etc. Many studies need to be carried out to determine optimal cutoff values for both IRT and the sweat test. Genomics and computational biology can be used not only in identifying the other important CFTR mutations, but also in evaluating their impact on the patient’s body.},
 year = {2019}
}

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TY - JOUR
T1 - Neonatal Screening for Cystic Fibrosis: A Meta Analysis Study
AU - Ashraf Mahmood
AU - Divya Rajmohan
AU - Shahnawaz Hashmi
AU - Shayan Faiq
AU - Adewale Plumptre
AU - Robert Soltes
AU - Zahir Faruqi
AU - Lubna Attal
Y1 - 2019/10/09
PY - 2019
N1 - https://doi.org/10.11648/j.ajp.20190504.16
DO - 10.11648/j.ajp.20190504.16
T2 - American Journal of Pediatrics
JF - American Journal of Pediatrics
JO - American Journal of Pediatrics
SP - 200
EP - 208
PB - Science Publishing Group
SN - 2472-0909
UR - https://doi.org/10.11648/j.ajp.20190504.16
AB - Objective: The main goal of this literature review is to investigate and compare the current screening procedures for the diagnosis of cystic fibrosis in neonates. Cystic Fibrosis or CF is a lethal, genetic disease. The disease is neither too widespread nor too rare. There are more than 30,000 CF patients in the United States, and the number of CF carriers is still unidentified. CF affects more than one organ system in patient’s body; due to this, there is no definitive treatment plan for the disease. The cure is dependent on the results of prenatal and postnatal diagnosis. The patients may exhibit all or few symptoms associated with the disease. Sometimes, symptoms are completely absent at the time of birth and become more prevalent with the age. Methods & Materials: We extensively studied the peer-reviewed scientific journals to understand the existing diagnostic and screening methods for cystic fibrosis. During our research, we kept the focus on newborn screening and evaluated the clinical data from previous studies. We retrieved tables and figures from electronic databases to indicate these results more effectively. We also analyzed the available information on sensitivity, specificity, positive predictive value and negative predictive value of these screening programs. Result & Conclusion: The data indicates that sensitivity of neonatal screening programs is less than 90% (or even below 80% in some cases) when only one test is performed. However, sensitivity increases as the multi-stage approach is adopted. Besides, the CF detection rate is also influenced by multiple factors including ethnicity and age of the patient, duration of the study, type of CFTR mutation, nutritional habits, etc. Many studies need to be carried out to determine optimal cutoff values for both IRT and the sweat test. Genomics and computational biology can be used not only in identifying the other important CFTR mutations, but also in evaluating their impact on the patient’s body.
VL - 5
IS - 4
ER -

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Author Information

Ashraf Mahmood

Metropolitan Jewish Health System, New York, USA
Divya Rajmohan

Weill Cornell Medicine, New York, USA
Shahnawaz Hashmi

Hameed’s Primary Care Clinic, New York, USA
Shayan Faiq

Hameed’s Primary Care Clinic, New York, USA
Adewale Plumptre

Department of Public Health, Walden University, Minneapolis, USA
Robert Soltes

Hameed’s Primary Care Clinic, New York, USA
Zahir Faruqi

Department of Biochemistry, Long Island University, New York, USA
Lubna Attal

School of Medicine, St. George University, St. George’s, Grenada

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APA Style

Ashraf Mahmood, Divya Rajmohan, Shahnawaz Hashmi, Shayan Faiq, Adewale Plumptre, et al. (2019). Neonatal Screening for Cystic Fibrosis: A Meta Analysis Study. American Journal of Pediatrics, 5(4), 200-208. https://doi.org/10.11648/j.ajp.20190504.16

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ACS Style

Ashraf Mahmood; Divya Rajmohan; Shahnawaz Hashmi; Shayan Faiq; Adewale Plumptre, et al. Neonatal Screening for Cystic Fibrosis: A Meta Analysis Study. Am. J. Pediatr. 2019, 5(4), 200-208. doi: 10.11648/j.ajp.20190504.16

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AMA Style

Ashraf Mahmood, Divya Rajmohan, Shahnawaz Hashmi, Shayan Faiq, Adewale Plumptre, et al. Neonatal Screening for Cystic Fibrosis: A Meta Analysis Study. Am J Pediatr. 2019;5(4):200-208. doi: 10.11648/j.ajp.20190504.16

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@article{10.11648/j.ajp.20190504.16,
  author = {Ashraf Mahmood and Divya Rajmohan and Shahnawaz Hashmi and Shayan Faiq and Adewale Plumptre and Robert Soltes and Zahir Faruqi and Lubna Attal},
  title = {Neonatal Screening for Cystic Fibrosis: A Meta Analysis Study},
  journal = {American Journal of Pediatrics},
  volume = {5},
  number = {4},
  pages = {200-208},
  doi = {10.11648/j.ajp.20190504.16},
  url = {https://doi.org/10.11648/j.ajp.20190504.16},
  eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ajp.20190504.16},
  abstract = {Objective: The main goal of this literature review is to investigate and compare the current screening procedures for the diagnosis of cystic fibrosis in neonates. Cystic Fibrosis or CF is a lethal, genetic disease. The disease is neither too widespread nor too rare. There are more than 30,000 CF patients in the United States, and the number of CF carriers is still unidentified. CF affects more than one organ system in patient’s body; due to this, there is no definitive treatment plan for the disease. The cure is dependent on the results of prenatal and postnatal diagnosis. The patients may exhibit all or few symptoms associated with the disease. Sometimes, symptoms are completely absent at the time of birth and become more prevalent with the age. Methods & Materials: We extensively studied the peer-reviewed scientific journals to understand the existing diagnostic and screening methods for cystic fibrosis. During our research, we kept the focus on newborn screening and evaluated the clinical data from previous studies. We retrieved tables and figures from electronic databases to indicate these results more effectively. We also analyzed the available information on sensitivity, specificity, positive predictive value and negative predictive value of these screening programs. Result & Conclusion: The data indicates that sensitivity of neonatal screening programs is less than 90% (or even below 80% in some cases) when only one test is performed. However, sensitivity increases as the multi-stage approach is adopted. Besides, the CF detection rate is also influenced by multiple factors including ethnicity and age of the patient, duration of the study, type of CFTR mutation, nutritional habits, etc. Many studies need to be carried out to determine optimal cutoff values for both IRT and the sweat test. Genomics and computational biology can be used not only in identifying the other important CFTR mutations, but also in evaluating their impact on the patient’s body.},
 year = {2019}
}

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