Cystic fibrosis newborn screening implemented in Belgium in 2019

In 2019, a national program of cystic fibrosis newborn screening is scheduled to be eventually implemented in Belgium. An IRT/DNA algorithm has been chosen, pretty similar to the French algorithm. In both countries, R117H is almost always combined in cis with a 7T sequence in the intron 8 acceptor splice site. It was included in the initial panel of CFTR variants looked for. This paper critically describes the program’s steps, while emphasizing the crucial roles of general practitioners and local pediatricians. Key Words Cystic fibrosis, newborn screening What is already known about the topic? Coupled with immediate referral to high-quality specialized cystic fibrosis (CF) centers, CF newborn screening (CFNBS) has been recognized to improve the disease prognosis. What does this article bring up for us? Challenges are associated with each step of the CFNBS program. In the Belgian program involving general practitioners and local pediatricians, these challenges are threefold: i) communicating in an appropriate and timely manner the initial positive NBS result to the families; ii) ensuring that children are promptly seen at the specialized CF center chosen by the parents; iii) keeping in mind that around 5% of diagnoses will likely be missed by the screening, representing false negatives.