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Updated: Jul 24, 2025

Rectal Organoid Morphology Analysis ROMA: A Diagnostic Assay in Cystic Fibrosis
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Rectal Organoid Morphology Analysis ROMA: A Diagnostic Assay in Cystic Fibrosis

Published on: June 10, 2022

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Cystic Fibrosis-Associated Gastrointestinal Disease in Neonates

Jennifer T Duong1, Zachary M Sellers2

  • 1Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Seattle Children's Hospital and University of Washington, Seattle, WA.

Neoreviews
|June 30, 2023
PubMed

Insights

Early diagnosis of cystic fibrosis (CF) in newborns is crucial for better outcomes. This review covers gastrointestinal issues in neonates and the impact of maternal CFTR-targeted therapies on infant diagnosis and disease progression.

Area of Science:

  • Neonatology
  • Gastroenterology
  • Pediatric Pulmonology

Background:

  • Gastrointestinal (GI) complications are often the earliest signs of cystic fibrosis (CF), leading to significant morbidity and mortality.
  • Early diagnosis and intervention in CF are critical for improving long-term pulmonary and nutritional health outcomes.
  • Understanding neonatal manifestations is key for timely management.

Approach:

  • This review synthesizes current knowledge on GI, pancreatic, hepatic, and nutritional issues in neonates with CF.
  • It aims to equip clinicians with diagnostic and management strategies for early-stage CF.
  • The review also examines the influence of maternal CFTR-targeted therapies on neonatal CF diagnosis and disease trajectory.

Key Points:

  • Common GI, pancreatic, hepatic, and nutritional manifestations of CF in neonates are detailed.
  • The importance of early CF diagnosis for improved long-term outcomes is emphasized.
  • The potential effects of maternal CFTR-modulator use on newborn diagnosis and disease progression are discussed.

Conclusions:

  • Prompt identification and management of GI manifestations in neonates are essential for mitigating CF-related complications.
  • Maternal CFTR-targeted therapies may alter the diagnostic landscape and disease course in newborns, requiring careful consideration.
  • This review provides a clinical guide for addressing early CF manifestations in neonates.

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