Cystic Fibrosis - Glossary

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Last Updated on Feb 19, 2020
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Glossary

Amniocentesis: A procedure in which a needle is inserted into the amniotic sac surrounding the fetus and fluid withdrawn for testing.

Bronchiectasis: Bronchiectasis is a respiratory condition that affects the functioning of the lungs. Air is normally carried through narrow passageways or tubes that are called bronchi. In bronchiectasis, the bronchi get damaged and there is a widening of these airways that make them flabby and scarred. This impedes their ability to carry air in and out of the lungs.

Carrier: A person having the faulty gene in their chromosome, but donít suffer from the disease.† They can transmit the gene to their offspring.

Chorionic villus sampling: Procedure in which a small sample of cells from the placenta is taken for testing.

Fetus: The developing offspring within the uterus from 9 weeks till birth

Gene: A region on the chromosome that codes for specific traits such as skin and eye color, height etc.

Recessive disorder: Condition in which both parents should transmit one copy each of the defective gene to the offspring.† Only then will the offspring show clinical features of the disease.

Prenatal (before birth) diagnosis: Testing the fetus in the womb to detect evidence of disease.

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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

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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