Sidney Hopfer<\/a>, professor in the Department of Pathology and Laboratory Medicine. \u201cThe complications associated with CF are progressive, so you have failure to grow and failure to thrive.\u201d<\/p>\nHopfer\u2019s colleagues in UConn Health\u2019s Clinical Laboratory receive a blood sample taken within days of birth and screen for immunoreactive trypsinogen, a chemical made by the pancreas. If the concentration is high, they analyze the infant’s DNA for gene mutations specific to CF.<\/p>\n
Generally the conclusion is that if a single mutation is found, the child is a carrier but does not have CF. But if two mutations are found — meaning the infant\u00a0inherited the gene from both parents — the child is very likely to have CF. Since the genetic screening is not able to detect all mutations that can cause disease, a sweat test is recommended in either case to ensure that there is not an undetected second mutation. In the sweat test, medical providers induce perspiration in the infant and check for salt concentration, which is elevated in individuals with CF.<\/p>\n
The sweat test is considered the most reliable way to diagnose CF. And it\u2019s at this stage when the process becomes unique.<\/p>\n
On the same visit as the sweat test, parents have a video consultation with a genetic counselor from the UF Health. This happens in a private room and is provided at no cost to the patient. This offering is made possible by a grant from the Cystic Fibrosis Foundation.<\/p>\n
\u201cThere are two major parts to my job with newborn screening,\u201d says Heather Stalker, a UF certified genetic counselor. \u201cOne is to give that family a clear idea of why they\u2019re there…The second is to address the fact that, the CF gene is in your family, and that increases the risk for people in your family, potentially, to have a baby with cystic fibrosis, and these are the people in the family who need that information.\u201d<\/p>\n
UConn Health and Connecticut Children\u2019s Medical Center represent one of four clinical sites in the country in partnership with the University of Florida. Connecticut’s screenings account for more than half the screenings done under those partnerships.<\/p>\n
UConn Health has been screening newborns for CF since 1993, but those screenings weren\u2019t required by state law until 2009. The collaboration with the University of Florida started in 2014.<\/p>\n
\u201cWith the addition of the genetic counseling piece, our program has significantly decreased the time to sweat test and ultimately CF diagnosis,\u201d says Dr. Melanie Sue Collins, associate director of the Central Connecticut Cystic Fibrosis Center at the Connecticut Children\u2019s Medical Center.<\/p>\n
Another strength of the collaboration is the instantaneous communication between lab and clinic.<\/p>\n
\u201cWe work in close contact with each other with regular phone calls, texts, emails, and in-person meetings to maximize the efficiency and effectiveness of the program,\u201d Collins says.<\/p>\n
Hopfer says this approach is very well received by patients, and that most\u00a0parents comply with the sweat test recommendation.<\/p>\n
\u201cWe have all the pieces: easily obtainable, the patients don\u2019t have to travel far, there is coordination between the lab\/CF Center and primary care physician\u00a0regarding testing and genetic counseling,\u201d Hopfer says. \u201cClearly that\u2019s something that, in my opinion at least, should be done nationally.\u201d<\/p>\n","protected":false},"excerpt":{"rendered":"
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