Biological specimen banks in neonatal screening

Abstract

The Danish neonatal screening program analyses dried blood spot samples (DBSS) from close to 70 000 newborns annually from Denmark, Greenland and the Faroe Islands. Since 1982, all DBSS have been stored in a biological specimen bank at −20°C as a routine procedure after analysis. Before sampling, parents are given written information about the screening tests, the biobank and its use, and can choose to opt out. Since 1993 the biobank has been regulated by specific legislation, and thus assumes a unique position among biological specimen banks. Its purposes are: (i) diagnosis and treatment of diseases screened for, including repeat testing, quality assurance and group statistics; (ii) other diagnostic uses during infancy; and (iii) research projects. The stored samples have been used successfully to diagnose a range of genetic diseases using biochemical and molecular genetic assays, and to diagnose congenital CMV and toxoplasmosis infections using assays for specific IgM antibodies and pathogen nucleic acids. The unbiased nature and comprehensive coverage of the samples in the biobank make them attractive for research purposes. Our studies have focused on the epidemiology of genetic disease alleles and other molecular disease markers and on retrospective screening projects, which have allowed rapid appraisal of the performance of novel screening modalities, saving years of prospective screening trials. Storage of neonatal screening samples is thus beneficial not only to the individual testees, but also to future generations of newborns.