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Stroek, K. (author), Visser, A. (author), van der Ploeg, C.P.B. (author), Zwaveling-Soonawala, N. (author), Heijboer, A.C. (author), Bosch, A.M. (author), van Trotsenburg, P. (author), Boelen, A. (author), Hoogendoorn, M. (author), de Jonge, R. (author)Objective. The Dutch Congenital hypothyroidism (CH) Newborn Screening (NBS) algorithm for thyroidal and central congenital hypothyroidism (CH-T and CH-C, respectively) is primarily based on determination of thyroxine (T4) concentrations in dried blood spots, followed by thyroid-stimulating hormone (TSH) and thyroxine-binding globulin (TBG)...article 2023
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Bouva, M.J. (author), Dankert-Roelse, J.E. (author), van der Ploeg, C.P.B. (author), Verschoof-Puite, R.K. (author), Zomer-van Ommen, D.D. (author), Gille, J. (author), Jakobs, B.S. (author), de Winter-de Groot, K.M. (author)Background: Dutch newborn screening (NBS) for Cystic Fibrosis (CF) introduced in 2011 showed a sensitivity of 90% and a positive predictive value (PPV) of 63%. We describe a study including an optimization phase and evaluation of the modified protocol. Methods: Dutch protocol consists of four steps: determination of immunoreactive trypsinogen ...article 2023
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Wins, S. (author), Verkerk, P.H. (author), van der Ploeg, C.P.B. (author)The Newborn Blood Spot screening programme (NBS) was introduced in the Netherlands in 1974. The programme is coordinated by the Centre for Population Screening (CvB) of the National Institute for Public Health and the Environment (RIVM). The aim of the NBS is the early detection of several serious congenital diseases in newborns. Children with...report 2022
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van der Zee, R.B. (author), Uilenburg, N.N. (author), van der Ploeg, C.P.B. (author), Dirks, E. (author)Background: Few studies report prevalence rates of hearing loss in newborns for nationwide populations. The Dutch well-baby newborn hearing screening covers almost all eligible children and has high participation rates for follow-up screening rounds and diagnosis. This allows calculating reliable prevalence rates of permanent neonatal hearing...article 2022
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van der Pal, S. (author), Wins, S. (author), Klapwijk, J.E. (author), van Dijk, T. (author), Kater-Kuipers, A. (author), van der Ploeg, C.P.B. (author), Jans, S.M.P.J. (author), Verschoof-Puitte, R.K. (author), van den Bosch, L.J.M. (author)Introduction. The goal of newborn bloodspot screening (NBS) is the early detection of treatable disorders in newborns to offer early intervention. Worldwide, the number of conditions screened for is expanding, which might affect public acceptance. In the Netherlands, participation is high (>99%), but little is known about how parents perceive...article 2022
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Klapwijk, J.E. (author), van der Pal, S. (author), Wins, S. (author), van Dijk, T. (author), Kater-Kuipers, A. (author), van der Ploeg, C.P.B. (author), Jans, S.M.P.J. (author), Kemp, S. (author), Verschoof-Puitte, R.K. (author), van den Bosch, L.J.M. (author), Henneman, L. (author)Newborn bloodspot screening (NBS) aims at early detection of treatable disorders to offer early intervention. The number of conditions being screened for is expanding, which may affect public acceptance of NBS. This study explored views of NBS participants and non-participants on (expanding) NBS in the Netherlands.public lecture 2022
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- van Dommelen, P. (author), van Lonkhuijsen, M. (author), Bakker, R. (author) public lecture 2021
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- Bouva, M. (author), Heijnen, M.L. (author), Jacobs, B. (author), van der Ploeg, C.P.B. (author), Gille, J. (author), Gulmans, V. (author), Verschoof-Puite, R. (author), de Winter-de Groot, K. (author) public lecture 2021
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Wins, S. (author), van der Ploeg, C.P.B. (author), Verkerk, P.H. (author)The Newborn Blood Spot screening programme (NBS) was introduced in the Netherlands in 1974. The programme is coordinated by the Centre for Population Screening (CvB) of the National Institute for Public Health and the Environment (RIVM). The aim of the NBS is the early detection of a number of serious congenital diseases in newborns. Children...report 2021
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Stroek, K. (author), Heijboer, A.C. (author), van Veen-Sijne, M. (author), Bosch, A.M. (author), Ploeg C.P.B. van der, (author), Zwaveling-Soonawala, N. (author), de Jonge, R. (author), van Trotsenburg, A.S.P. (author), Boelen, A. (author)Introduction: Newborn screening (NBS) for congenital hypothyroidism (CH) in the Netherlands consists of thyroxine (T4), thyroid-stimulating hormone (TSH), and T4-binding globulin (TBG) measurements to detect thyroidal CH and central CH (CH-C). CH-C is detected by T4 or a calculated T4/TBG ratio, which serves as an indirect measure of free T4....article 2021
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van den Akker-van Marle, M.E. (author), Blom, M. (author), van der Burg, M. (author), Bredius, R.G.M. (author), Ploeg C.P.B. van der, (author)Although several countries have adopted severe combined immunodeficiency (SCID) into their newborn screening (NBS) program, other countries are still in the decision process of adding this disorder in their program and finding the appropriate screening strategy. This decision may be influenced by the cost(-effectiveness) of these screening...article 2021
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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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Cacciatore, P. (author), Visser, L.A. (author), Buyukkaramikli, N. (author), van der Ploeg, C.P.B. (author), van den Akker-van Marle, M.E. (author)Introduction: Cost-effectiveness (CEA) and cost–utility analyses (CUA) have become popular types of economic evaluations (EE) used for evidence-based decision-making in healthcare resource allocation. Newborn screening programs (NBS) can have significant clinical benefits for society, and cost-effectiveness analysis may help to select the...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 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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Zwaveling-Soonawala, N. (author), Trotsenburg, A.S. (author), Verkerk, P.H. (author)Context. In central hypothyroidism (CeH) free thyroxine (FT4) concentrations are low while TSH concentrations may be low, normal or even slightly elevated due to reduced bioactivity. Congenital CeH (CCeH) may be isolated or part of multiple pituitary hormone deficiency (MPHD). Objective. To test our hypotheses that (1) TSH concentrations have a...article 2018
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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
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van Groen, B.D. (author), van de Steeg, E. (author), Mooij, M.G. (author), van Lipzig, M.M.H. (author), de Koning, B.A.E. (author), Verdijk, R.M. (author), Wortelboer, H.M. (author), Gaedigk, R. (author), Bi, C. (author), Leeder, S. (author), van Schaik, R.H.N. (author), van Rosmalen, J. (author), Tibboel, D. (author), Vaes, W.H. (author), de Wildt, S.N. (author)Background Hepatic membrane transporters are involved in the transport of many endogenous and exogenous compounds, including drugs. We aimed to study the relation of age with absolute transporter protein expression in a cohort of 62 mainly fetus and newborn samples. Methods Protein expressions of BCRP, BSEP, GLUT1, MCT1, MDR1, MRP1, MRP2, MRP3,...article 2018
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Siddiqui, A. (author), Cuttini, M. (author), Wood, R. (author), Velebil, P. (author), Delnord, M. (author), Zile, I. (author), Barros, H. (author), Gissler, M. (author), Hindori-Mohangoo, A.D. (author), Blondel, B. (author), Zeitlin, J. (author), Haidinger, G. (author), Alexander, S. (author), Pavlou, P. (author), Mortensen, L. (author), Sakkeus, L. (author), Lack, N. (author), Antsaklis, A. (author), Berbik, I. (author), Ólafsdóttir, H.S. (author), Bonham, S. (author), Misins, J. (author), Jaselioniene, J. (author), Wagener, Y. (author), Gatt, M. (author), Nijhuis, J. (author), Klungsøyr, K. (author), Szamotulska, K. (author), Horga, M. (author), Cap, J. (author), Mandić, N.T. (author), Bolúmar, F. (author), Gottvall, K. (author), Berrut, S. (author), Macfarlane, A. (author), Euro-Peristat Scientific Committee (author)Background: The Apgar score has been shown to be predictive of neonatal mortality in clinical and population studies, but has not been used for international comparisons. We examined population-level distributions in Apgar scores and associations with neonatal mortality in Europe. Methods: Aggregate data on the 5 minute Apgar score for live...article 2017
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van Ganzewinkel, C.J. (author), Been, J.V. (author), Verbeek, I. (author), Boelen-van der Loo, T. (author), van der Pal, S.M. (author), Kramer, P.W. (author), Andriessena, P. (author)Background. Data on long-term consequences of neonatal pain is limited. Aim. To assess whether perinatal factors, later pain experience and pain coping strategies are associated with altered pain threshold, pain tolerance and pain intensity in adolescents born preterm. Study design. Observational, longitudinal study (Project on Preterm and SGA...article 2017