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Volume 11
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10.3390/ijns11030067
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Article

Exceptionally High Cystic Fibrosis-Related Morbidity and Mortality in Infants and Young Children in India: The Need for Newborn Screening and CF-Specific Capacity Building

by
Priyanka Medhi
1,†,
Grace R. Paul
2,†,
Madhan Kumar
1,
Grace Rebekah
3,
Philip M. Farrell
4,
Jolly Chandran
5,
Rekha Aaron
6,
Aaron Chapla
7 and
Sneha D. Varkki
1,*
1
Department of Paediatrics, Christian Medical College, Vellore 632004, India
2
Division of Pulmonary and Sleep Medicine, Nationwide Children’s Hospital, Columbus, OH 43205, USA
3
Department of Biostatistics, Christian Medical College, Vellore 632004, India
4
Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI 53792, USA
5
Paediatric Critical Care Unit, Christian Medical College, Vellore 632004, India
6
Molecular Genetics Laboratory, Department of Medical Genetics, Christian Medical College, Vellore 632004, India
7
Molecular Endocrinology Laboratory, Christian Medical College, Vellore 632004, India
*
Author to whom correspondence should be addressed.
†
These authors contributed equally to this work.
Int. J. Neonatal Screen. 2025, 11(3), 67; https://doi.org/10.3390/ijns11030067
Submission received: 28 June 2025 / Revised: 1 August 2025 / Accepted: 11 August 2025 / Published: 22 August 2025
(This article belongs to the Special Issue Advances in Cystic Fibrosis Newborn Screening: From Laboratory Testing to Diagnosis)
Review Reports Versions Notes

Abstract

Early diagnosis of cystic fibrosis (CF) through newborn screening (NBS) improves clinical outcomes, but in countries like India, delayed diagnosis increases morbidity, mortality, and likely underestimates infant deaths from CF. We performed a retrospective study at a single center in south India from 2017 to 2025 reviewing children diagnosed with CF before one year of age. Patient demographic, clinical, and genetic data were analyzed to characterize early clinical features and identify factors linked to mortality. Of 56 infants diagnosed with CF, 59% survived (median current age 55 months) while 41% died (median age of death 5 months). Key clinical indicators included sibling death with CF-like symptoms, rapid weight loss, and persistent respiratory or nutritional complications. Mortality risk under one year was significantly linked to hypoalbuminemia (OR 9.7), severe malnutrition (OR 4.4), severe anemia (hemoglobin < 7 g/dL) requiring blood transfusions (OR 3.0), and peripheral edema (OR 4.2). A triad of anemia, hypoalbuminemia, and edema was found to strongly predict death (OR 4.2). Integrating clinical checklists of these manifestations into primary healthcare may improve prompt referrals for earlier diagnosis and treatment. Continued education and advocacy for NBS are essential to reduce potentially preventable CF-related deaths in young children.
Keywords: India; cystic fibrosis; newborn screening; mortality; anemia; edema; incidence India; cystic fibrosis; newborn screening; mortality; anemia; edema; incidence

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MDPI and ACS Style

Medhi, P.; Paul, G.R.; Kumar, M.; Rebekah, G.; Farrell, P.M.; Chandran, J.; Aaron, R.; Chapla, A.; Varkki, S.D. Exceptionally High Cystic Fibrosis-Related Morbidity and Mortality in Infants and Young Children in India: The Need for Newborn Screening and CF-Specific Capacity Building. Int. J. Neonatal Screen. 2025, 11, 67. https://doi.org/10.3390/ijns11030067

AMA Style

Medhi P, Paul GR, Kumar M, Rebekah G, Farrell PM, Chandran J, Aaron R, Chapla A, Varkki SD. Exceptionally High Cystic Fibrosis-Related Morbidity and Mortality in Infants and Young Children in India: The Need for Newborn Screening and CF-Specific Capacity Building. International Journal of Neonatal Screening. 2025; 11(3):67. https://doi.org/10.3390/ijns11030067

Chicago/Turabian Style

Medhi, Priyanka, Grace R. Paul, Madhan Kumar, Grace Rebekah, Philip M. Farrell, Jolly Chandran, Rekha Aaron, Aaron Chapla, and Sneha D. Varkki. 2025. "Exceptionally High Cystic Fibrosis-Related Morbidity and Mortality in Infants and Young Children in India: The Need for Newborn Screening and CF-Specific Capacity Building" International Journal of Neonatal Screening 11, no. 3: 67. https://doi.org/10.3390/ijns11030067

APA Style

Medhi, P., Paul, G. R., Kumar, M., Rebekah, G., Farrell, P. M., Chandran, J., Aaron, R., Chapla, A., & Varkki, S. D. (2025). Exceptionally High Cystic Fibrosis-Related Morbidity and Mortality in Infants and Young Children in India: The Need for Newborn Screening and CF-Specific Capacity Building. International Journal of Neonatal Screening, 11(3), 67. https://doi.org/10.3390/ijns11030067

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