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Cystic Fibrosis - Symptoms - CFTR mutation - Diagnosis - Treatment - Prognosis

Glossary

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Vas deferens - Tubes that carry the sperms from the epididymis of the testes to the urethra

Amniocentesis - A procedure by which a small sample of amniotic fluid is removed from a pregnant woman to be subjected to genetic studies

Chorionic villi sampling - A procedure by which a small placental tissue is removed from a pregnant woman to carry out genetic studies

Sinusitis - An infection of the air-filled spaces behind eyes, nose, and forehead

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Posted by:  prema  Posted on: 12/28/2009
As the above article mentions, cystic fibrosis is an autosomal recessive disease and testing for carrier status has been available, but screening policies differ widely. An interesting screening study between neighboring towns in Italy was reported recently. This study reports on a natural experiment which arose in north eastern Italy when Veneto adopted a conservative carrier testing policy while next door in the Padua area, much wider testing was carried out. In both regions babies are also tested for CF at birth, and in the Padua area there were half as many as in the Veneto area. In other words, couples do make reproductive choices based on their carrier status.
http://jama.ama-assn.org



Posted by:  prema  Posted on: 12/20/2009
Cystic fibrosis in India is rare. Also there is less awareness among medical staff. Apparently frequency of common mutation F508del in Indian children is between 19% and 34%. The cystic fibrosis wordlwide is willing to fund projects for two years in India. There is an appeal on thier site - just google cystic fibrosis wordlwide india and see the response.




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