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Related Experiment Video

Updated: Nov 10, 2025

Protocol and Guidelines for Point-of-Care Lung Ultrasound in Diagnosing Neonatal Pulmonary Diseases Based on International Expert Consensus
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Genetic Testing for Neonatal Respiratory Disease.

Lawrence M Nogee1, Rita M Ryan2

  • 1Eudowood Neonatal Pulmonary Division, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

Children (Basel, Switzerland)
|April 3, 2021
PubMed
Summary

Genetic mutations are rare causes of neonatal lung disease. Genetic testing identifies specific gene defects, aiding treatment and prognosis for infants with these rare conditions.

Keywords:
interstitial lung diseasepersistent pulmonary hypertension of the newbornprimary ciliary dyskinesiapulmonary surfactantrespiratory distress syndrome

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Area of Science:

  • Pediatric Pulmonology
  • Medical Genetics
  • Neonatology

Background:

  • Genetic mechanisms are increasingly recognized as rare causes of neonatal lung disease.
  • Genes involved encompass those crucial for surfactant function, lung development, ciliary function, and immune regulation.
  • Clinical presentation of genetic neonatal lung disease can mimic common, reversible causes, complicating diagnosis.

Purpose of the Study:

  • To review genes associated with neonatal lung disease and their phenotypes.
  • To discuss the role and utility of multigene panels in diagnosing these conditions.
  • To outline the advantages and limitations of genetic testing in this context.

Main Methods:

  • Literature review of genetic causes of neonatal lung disease.
  • Analysis of gene functions related to lung development and function.
  • Discussion of clinical phenotypes and diagnostic approaches.

Main Results:

  • Identified key gene categories implicated in neonatal lung disease: surfactant, transcription factors, cilia, structural, and immune genes.
  • Highlighted the diagnostic challenge due to overlapping clinical features with non-genetic causes.
  • Emphasized the diagnostic power of multigene panels for specific identification.

Conclusions:

  • Genetic testing, particularly multigene panels, is crucial for diagnosing rare neonatal lung diseases.
  • Accurate genetic diagnosis provides vital information for patient management, treatment strategies, and prognostic assessment.
  • Understanding the genetic basis of neonatal lung disease is essential for advancing pediatric respiratory care.