Summary

I​​ntroduction:

The aim of neonatal screening is to ensure presymptomatic identification and early treatment of treatable congenital endocrine and metabolic disorders, in order to reduce morbidity-mortality and any possible impairments and disabilities associated with such diseases. Most of these disorders do not manifest themselves clinically at time of birth but, if they are not diagnosed and treated, they can have extremely serious clinical consequences. Even so, neonatal disease screening should in no case be initiated unless the advantages of early detection to the newborn are clearly defined and there are guarantees of adequate diagnosis, follow-up and treatment for all children detected by the health care system. Furthermore, all newborns in the target population must be assured of equitable and universal access, with correct information being supplied to parents to help them in decision-making. This assessment report was drawn up at the request of the National Health System Interterritorial Council's Services, Insurance & Finance Committee, in response to a proposal from the Galician Regional Health Authority.

Objectives:

The main objective was to assess both the efficacy/effectiveness and safety of neonatal screening of the classic form of congenital adrenal hyperplasia (CAH) and the analytical validity of the screening test (sensitivity, specificity and predictive values). As a secondary objective, the disease's incidence/prevalence, natural history, prognosis, morbidity-mortality and early treatment were also analysed. The end purpose was to address the screening principles contained in the "Population Screening Framework Document", which was drawn up by the Population Screening Board on behalf of all of Spain's Autonomous Regions (Comunidades Autónomas) and was approved by the Public Health Committee of the National Health System Interterritorial Council.

Methods:

We conducted a systematic literature review, taking the 2004 Neonatal CAH Screening Report issued by the Galician Health Technology Assessment Agency (avalia-t) as reference. In accordance with the information needed to meet the report's designated objectives, two comprehensive searches of the scientific literature were made in the main biomedical databases (January and May 2014), including CRD (Centre for Reviews and Dissemination database), HTA (Health Technology Assessment), DARE (Database of Abstracts of Reviews of Effectiveness), NHS EED (National Health Service Economic Evaluation Database), Cochrane Library Plus, Medline and Embase, among others. Papers were selected according to a series of pre-defined inclusion/exclusion criteria, and the quality of the scientific evidence was assessed using the scale developed by the Oxford Centre for Evidence-Based Medicine.

Results, discussion and conclusions: See pdf summary below.