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Stroek, K. (author), Heijboer, A.C. (author), Bouva, M.J. (author), van der Ploeg, C.P.B. (author), Heijnen, M.L.A. (author), Weijman, G. (author), Bosch, A.M. (author), de Jonge, R. (author), Schielen, P.C.J.I. (author), van Trotsenburg, A.S.P. (author), Boelen, A. (author)Objective: Congenital hypothyroidism (CH) is defined as thyroid hormone deficiency at birth due to disorders of the thyroid gland (thyroidal CH, CH-T), or the hypothalamus or pituitary (central CH, CH-C). The Dutch Newborn Screening (NBS) strategy is primarily based on determination of thyroxine (T4) concentrations in dried blood spots followed,...article 2020
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Dankert-Roelse, J.E. (author), Bouvs, M.J. (author), Jakobs, B.S. (author), Janssens, H.M. (author), de Winter-de Groot, K.M. (author), Schonbeck, Y. (author), Gille, J.J.P. (author), Gulmans, V.A.M. (author), Verschoof-Puite, R.K. (author), Schielen, P.C.J.I. (author), Verkerk, P.H. (author)Background Newborn screening for cystic fibrosis (NBSCF) was introduced in the Dutch NBS program in 2011 with a novel strategy. Methods Dutch NBSCF consisted of four steps: immuno-reactive trypsin (IRT), Pancreatitis-associated Protein (PAP), DNA analysis by Inno-LiPa (35 mutations), extended gene analysis (EGA) as fourth step and as safety net....article 2019
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van der Linde, A.A.A. (author), Schönbeck, Y. (author), van der Kamp, H.J. (author), van den Akker, E.L.T. (author), van Albada, M.E. (author), Boelen, A. (author), Finken, M.J.J. (author), Hannema, S.E. (author), Hoorweg-Nijman, G. (author), Odink, R.J. (author), Schielen, P.C.J.I. (author), Straetemans, S. (author), van Trotsenburg, P.S. (author), Claahsen-van der Grinten, H.L. (author), Verkerk, P.H. (author)In 2002, a nationwide screening for congenital adrenal hyperplasia (CAH) was introduced in the Netherlands. The aim of our study is to evaluate the validity of the neonatal screening for CAH and to assess how many newborns with salt-wasting (SW) CAH have already been clinically diagnosed before the screening result was known. Retrospective,...article 2019
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van der Ploeg, C.P.B. (author), Blom, M. (author), Bredius, R.G.M. (author), van der Burg, M. (author), Schielen, P.C.J.I. (author), Verkerk, P.H. (author), van den Akker-van Marle, M.E. (author)Severe combined immunodeficiency (SCID) is a condition that often results in severe infections and death at young age. Early detection shortly after birth, followed by treatment before infections occur, largely increases the chances of survival. As the incidence of SCID is low, assessing cost-effectiveness of adding screening for SCID to the...article 2019
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Blom, M. (author), Bredius, R.G.M. (author), Weijman, G. (author), Dekkers, E.H.B.M. (author), Kemper, E.A. (author), van den Akker-van Marle, M.E. (author), van den Ploeg, C.P.B. (author), van der Burg, M. (author), Schielen, P.C.J.I. (author)The implementation of newborn screening for severe combined immunodeficiency (SCID) in the Netherlands is a multifaceted process in which several parties are involved. The Dutch Ministry of Health adopted the advice of the Dutch Health Council to include SCID in the Dutch newborn screening program in 2015. As newborn screening for SCID is...article 2018