when did they start screening newborns for cystic fibrosis
Newborn screening Cystic fibrosis (CF) was first added to newborn screening programs in New Zealand and regions of Australia in 1981, by measuring immunoreactive trypsinogen (IRT) in dried blood spots.[14] After the CFTR gene was identified, Australia introduced a two tier testing program to reduce the number of false positives. Samples with an elevated IRT value were then analyzed with molecular methods to identify the presence of disease causing mutations before being reported back to parents and health care providers.[15] CF is included in the core panel of conditions recommended for inclusion in all 50 states, Texas was the last state to implement their screening program for CF in 2010.[16] Alberta was the first Canadian province to implement CF screening in 2007.[17] Quebec, New Brunswick, Nova Scotia, Newfoundland and Prince Edward Island do not include CF in their screening programs.[18] The United Kingdom as well as many European Union countries screen for CF as well.[18] Switzerland is one of the latest countries to add CF to their newborn screening menu, doing so in January 2011.[14]
Cystic fibrosis CF is inherited in an autosomal recessive manner.[1] It is caused by the presence of mutations in both copies of the gene for the cystic fibrosis transmembrane conductance regulator (CFTR) protein.[1] Those with a single working copy are carriers and otherwise mostly normal.[3] CFTR is involved in production of sweat, digestive fluids, and mucus.[6] When CFTR is not functional, secretions which are usually thin instead become thick.[7] The condition is diagnosed by a sweat test and genetic testing.[1] Screening of infants at birth takes place in some areas of the world.[1]
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