Verkætlan úr Sjúkrakassagrunninum
Preventing cardiac disease through improved neonatal screening
Katrin Eivindsdóttir Danielsen
Ulrike Steuerwald, Ron A. Wevers, Dr.Marcel Nelen, Shahin Gaini, Jan Rasmussen, Noomi O. Gregersen og Magni Mohr
Stuðul úr Granskingargrunninum:
The aims of this project are two: To initiate mutational analysis based neonatal screening for primary carnitine deficiency (PCD) and Glycogen storage disease IIIa (GSDIIIa) that have a high incidence in the Faroe Islands and can lead to severe cardiac disease when left untreated. The second aim is to set up the Molecular Inversion Probe (MIP) technique in the Faroe Islands that offers cost-effective mutational analysis and broadens the range of molecular laboratory techniques available. Neonatal screening in the Faroe Islands follows the routine screening programme for Denmark at present. There are, however, concerns regarding the appropriateness of the programme. Firstly, the very high incidence of some disorders such as primary carnitine deficiency (PCD) in association with the estimated high rate of false negative results by routine tandem mass spectrometry analysis offers concerns. Secondly, glycogen storage disease type IIIa (GSD IIIa) has been shown to have a high incidence in the Faroe Islands but is not part of the neonatal screening programme although it fulfils all of the WHO criteria for inclusion of disorders in neonatal screening programs. Missed diagnosis for PCD and GSDIIIa can lead to significant morbidity involving the heart, and for PCD, sudden death in apparently healthy children and young adults. The mutations known to cause disease for PCD and GSDIIIa in Faroese individuals have been identified. In order to identify children with false negative results for PCD, and identify children with GSDIIIa, mutation analysis (MIP) will be performed for all new-borns in a trial period of three years to supplement routine neonatal screening. In addition to improving prognosis for children with these treatable disorders, it will provide valuable data on the rate of false negatives for CTD by mass spectrometry.