Genetic condition awaiting consideration - Surfactant Metabolism Dysfunction, Pulmonary 1 (SMDP1)
Pulmonary Surfactant Metabolism Dysfunction affects babies shortly after birth and is usually fatal in the first few months or year of life. It is a recessive condition affecting the lungs.
Pulmonary surfactant is a unique mixture of lipids and proteins that reduces surface tension at the air-liquid interface, preventing collapse of the lung at the end of expiration. Several genes encode surfactant proteins, and this application is concerning the gene encoding surfactant protein B (SFTPB).
Dysfunctions of surfactant metabolism lead to severe respiratory distress (breathing difficulties) in the neonatal period. Artificial respiration may be used but the condition is rapidly progressive and this is usually lethal in infancy.
As this is a recessive condition, couples who are both carriers have a 1 in 4 chance of having an affected child in each pregnancy conceived.
There is no cure and treatment is palliative.
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If you have any feedback on the genetic conditions awaiting consideration by the HFEA, send us an email and we will discuss your comments at the next Licence Committee.
Email: pgd@hfea.gov.uk
Page last updated: 07 May 2013