Neonatale screening op cystische fibrose in Nederland*

Conflict of interest: none declared. Financial support: none declared.

• Dutch newborns have been screened for cystic fibrosis (CF) in the neonatal heel-prick screening programme since May of 2011.

• Neonatal screening is beneficial to health because early treatment of patients with CF results in growth and nutritional statuses being almost equivalent to those of healthy children. These patients retain a good lung function longer, need fewer invasive treatments and have a better survival rate. Screening also offers parents the option of family planning. In addition, screening for CF is cost-effective.

• There are also disadvantages, however: an abnormal test result can lead to anxiety and uncertainty; also, current screening methods result in many false-positive test results and in identification of healthy carriers and children with atypical CF.

• The Dutch screening programme consists of two biochemical measurements of immunoreactive trypsinogen (IRT) and pancreatitis-associated protein (PAP). If both concentrations are elevated, DNA mutation analysis is performed and, if necessary, sequencing of the entire cystic fibrosis transmembrane conductance regulator (CFTR) gene.

• This four-step approach has a very high specificity and positive predictive value; therefore, the benefits outweigh the disadvantages. Children with CF and with meconium ileus may nevertheless be missed, because they may have normal IRT and PAP levels.