Newborn Screenings

Connecticut’s Effective Formula for Cystic Fibrosis Screening

small child held in the arms of mother while doctor (in background) consults


While all states require newborns to be screened for cystic fibrosis, Connecticut does it differently than most.

A unique collaboration — in which UConn Health screens the newborns, Connecticut Children’s Medical Center provides timely clinical intervention, and University of Florida Health (UF Health) offers genetic counseling via telemedicine — leads to early diagnosis and treatment, which can add years to patients’ lives.

Cystic fibrosis (CF) is a progressive genetic disease. A thick mucus buildup forms in the lungs, making patients prone to infections, lung damage, and respiratory failure. The pancreas doesn’t release enzymes, inhibiting the body’s ability to digest food and absorb nutrients.

If UConn Health screenings within days of birth show a CF gene mutation, a sweat test — considered the most reliable way to diagnose CF — is recommended to determine whether the baby is a carrier or has the disease.

And it’s at this stage when the process becomes unique.

On the same visit as the sweat test, parents have a no-cost, private, video consultation with a UF Health genetic counselor, made possible by a grant from the Cystic Fibrosis Foundation, to help them understand the implications of
the mutations.

Three other clinical sites in the U.S. partner with UF Health. UConn Health screens 7 of 10 infants born in the state, accounting for more than half the screenings done under the UF Health partnerships.

Though it wasn’t mandated by state law until 2009, UConn Health has screened newborns for CF since 1993. The collaboration with UF started in 2014.

“With the addition of the genetic counseling piece, our program has significantly decreased the time to sweat test and ultimately CF diagnosis,” says Dr. Melanie Sue Collins, associate director of the Central Connecticut Cystic Fibrosis Center at Connecticut Children’s.

The approach is well received by parents, says Sidney Hopfer, UConn professor in the Department of Pathology and Laboratory Medicine.

“We have all the pieces: the tests are easily obtainable; the patients don’t have to travel far; there is coordination between the lab, CF Center, and primary care physician regarding testing and genetic counseling,” Hopfer says. “In my opinion, this is something that should be done nationally.”