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Review

Genetic Testing for Neonatal Respiratory Disease

1
Eudowood Neonatal Pulmonary Division, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
2
Division of Neonatology, Department of Pediatrics, Case Western Reserve University, Cleveland, OH 44106, USA
*
Author to whom correspondence should be addressed.
Academic Editor: Vineet Bhandari
Received: 7 February 2021 / Revised: 27 February 2021 / Accepted: 8 March 2021 / Published: 11 March 2021
(This article belongs to the Special Issue Neonatal Respiratory Distress)
Genetic mechanisms are now recognized as rare causes of neonatal lung disease. Genes potentially responsible for neonatal lung disease include those encoding proteins important in surfactant function and metabolism, transcription factors important in lung development, proteins involved in ciliary assembly and function, and various other structural and immune regulation genes. The phenotypes of infants with genetic causes of neonatal lung disease may have some features that are difficult to distinguish clinically from more common, reversible causes of lung disease, and from each other. Multigene panels are now available that can allow for a specific diagnosis, providing important information for treatment and prognosis. This review discusses genes in which abnormalities are known to cause neonatal lung disease and their associated phenotypes, and advantages and limitations of genetic testing. View Full-Text
Keywords: respiratory distress syndrome; pulmonary surfactant; interstitial lung disease; persistent pulmonary hypertension of the newborn; primary ciliary dyskinesia respiratory distress syndrome; pulmonary surfactant; interstitial lung disease; persistent pulmonary hypertension of the newborn; primary ciliary dyskinesia
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MDPI and ACS Style

Nogee, L.M.; Ryan, R.M. Genetic Testing for Neonatal Respiratory Disease. Children 2021, 8, 216. https://0-doi-org.brum.beds.ac.uk/10.3390/children8030216

AMA Style

Nogee LM, Ryan RM. Genetic Testing for Neonatal Respiratory Disease. Children. 2021; 8(3):216. https://0-doi-org.brum.beds.ac.uk/10.3390/children8030216

Chicago/Turabian Style

Nogee, Lawrence M., and Rita M. Ryan 2021. "Genetic Testing for Neonatal Respiratory Disease" Children 8, no. 3: 216. https://0-doi-org.brum.beds.ac.uk/10.3390/children8030216

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