Summary

Introduction: Cystic fibrosis (CF) is the most frequent severe autosomal recessive genetic disorder among the Caucasian population, with an incidence in Spain of 1/2810-3743 newborns (27-36/100000). It is a systemic disorder that mainly affects lung and pancreatic function, with a high morbidity and mortality. Life expectancy has risen in recent decades thanks to improved disease management, though there is still no curative treatment. Over 1900 CFTR gene mutations (gene for the protein CF transmembrane conductance regulator) have been detected but not all would appear to cause the disease. The most common severe mutation world-wide is ΔF508. The availability of screening tests, such as immunoreactive trypsinogen (IRT) determination and CFTR gene-mutation-detection panels, have led to generalised implementation of newborn screening programmes for this disease.

Objectives

1. To assess the efficacy/effectiveness and safety of newborn CF screening.
2. To describe the various newborn CF screening strategies (screening protocols; screening test; diagnostic test; outcome assessment; referral units/centres; screening-programme quality assurance).

Methods

We conducted a systematic review of the scientific literature to:
1. assess the efficacy/effectiveness and safety of newborn CF screening, with the updated report issued by the Galician Health Technology Assessment Agency (avalia-t) in 2004; and
2. compile information on the implementation of newborn CF screening programmes.
Using pre-established inclusion and exclusion criteria, our search methodology targeted all main databases. The process was completed by a general search of the official web pages of all newborn screening programmes implemented at a national or international level.

Results, discussion and conclusions see pdf below