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Updated: Jun 22, 2025
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Protocol and Guidelines for Point-of-Care Lung Ultrasound in Diagnosing Neonatal Pulmonary Diseases Based on International Expert Consensus
Published on: March 6, 2019
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Interstitial lung disease in the newborn.
Hannah Giunta-Stibb1, Brian Hackett2
1Divisions of Neonatology and Pulmonology, Department of Pediatrics, University of Rochester Medical Center, 601 Elmwood Ave, Rochester, NY, 14642, USA. hannah.giunta@gmail.com.
Summary
Interstitial lung diseases in newborns cause respiratory distress and can be fatal. Genetic testing is crucial for diagnosing these rare conditions, offering new insights into their causes.
Area of Science:
- Neonatology
- Pulmonology
- Genetics
Background:
- Interstitial lung diseases (ILDs) are rare but serious conditions causing respiratory distress in newborns.
- Common neonatal ILDs include developmental disorders, surfactant dysfunction, pulmonary interstitial glycogenosis, and neuroendocrine cell hyperplasia of infancy.
Purpose of the Study:
- To highlight the diagnostic challenges and increasing role of genetic testing in neonatal ILDs.
- To emphasize the potential for genetic insights to improve understanding and management of these diseases.
Main Methods:
- Review of clinical presentations, imaging findings, and diagnostic modalities for neonatal ILDs.
- Discussion of the evolving role of lung biopsy and genetic testing (exome/whole genome sequencing).
Main Results:
- Neonatal ILDs present with significant overlap and variability, often necessitating advanced diagnostics.
- Genetic testing is increasingly utilized for diagnosis, even prior to lung biopsy.
- Identified genetic bases for some ILDs are improving etiological understanding.
Conclusions:
- Accurate diagnosis of neonatal ILDs often requires a combination of clinical, imaging, and genetic data.
- Advances in genetic sequencing offer promising avenues for discovering the underlying causes of these complex lung diseases.
- Improved diagnostic capabilities through genetics may lead to better patient outcomes for neonatal ILDs.
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