PuSH - Publication Server of Helmholtz Zentrum München

Hommel, A.* ; Haupt, F. ; Delivani, P.* ; Winkler, C. ; Stopsack, M.* ; Wimberger, P.* ; Nitzsche, K.* ; Heinke, S.* ; Naeke, A.* ; Ceglarek, U.* ; Thiery, J.* ; Bergert, R.* ; Stadthaus, D.* ; Groeger, K.* ; Heubner, G.* ; Schramm, U.* ; Dziambor, U.* ; Zirkel, A.* ; Kiess, W.* ; Mueller, I.* ; Lange, K.* ; Berner, R.* ; Bonifacio, E.* ; Ziegler, A.-G.

Screening for type 1 diabetes risk in newborns: The Freder1k pilot study in Saxony.

Horm. Metab. Res. 50, 44-49 (2017)
Open Access Green as soon as Postprint is submitted to ZB.
An increased risk for type 1 diabetes can be identified using genetic and immune markers. The Freder1k study introduces genetic testing for type 1 diabetes risk within the context of the newborn screening in order to identify newborns with a high risk to develop type 1 diabetes for follow-up testing of early stage type 1 diabetes and for primary prevention trials. Consent for research-based genetic testing of type 1 diabetes risk is obtained with newborn screening. Increased risk is assessed using three single nucleotide polymorphisms for HLA DRB1*03 (DR3), HLA DRB1*04 (DR4), HLA DQB1*0302 (DQ8) alleles, and defined as 1. an HLA DR3/DR4-DQ8 or DR4-DQ8/DR4-DQ8 genotype or 2. an HLA DR4-DQ8 haplotype and a first-degree family history of type 1 diabetes. Families of infants with increased risk are asked to participate in follow-up visits at infant age 6 months, 2 years, and 4 years for autoantibody testing and early diagnosis of type 1 diabetes. After 8 months, the screening rate has reached 181 per week, with 63% coverage of newborns within Freder1k-clinics and 24% of all registered births in Saxony. Of 4178 screened, 2.6% were identified to have an increased risk, and around 80% of eligible infants were recruited to follow-up. Psychological assessment of eligible families is ongoing with none of 31 families demonstrating signs of excessive burden associated with knowledge of type 1 diabetes risk. This pilot study has shown that it is feasible to perform genetic risk testing for childhood disease within the context of newborn screening programs.
Additional Metrics?
Edit extra informations Login
Publication type Article: Journal article
Document type Scientific Article
Keywords Genetic Risk Testing ; Type 1 Diabetes ; Newborn Screening ; Hla ; Islet Autoimmunity
ISSN (print) / ISBN 0018-5043
e-ISSN 1439-4286
Quellenangaben Volume: 50, Issue: 1, Pages: 44-49 Article Number: , Supplement: ,
Publisher Thieme
Publishing Place Stuttgart
Reviewing status Peer reviewed