Prenatal Testing for Cystic Fibrosis in the Central Denmark Region (2012–2023)

These data show that EB has a low positive predictive value for cystic fibrosis in the fetus (1:230) in a country with combined first-trimester screening but no systematic preconception or prenatal screening program for cystic fibrosis. Although the relative risk is increased compared to the general population (1:2,500), EB appears to be a marker of limited clinical utility. In settings without dedicated CF screening strategies, this underscores the importance of considering the most effective allocation of diagnostic resources.