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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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Naafs, J.C. (author), Marchal, J.P. (author), Fliers, E. (author), Verkerk, P.H. (author), Luijten, M.A.J. (author), Boelen, A. (author), van Trotsenburg, A.S.P. (author), Zwaveling-Soonawala, N. (author)Context: Early treatment of primary congenital hypothyroidism (CH) prevents irreversible brain damage. Contrary to primary CH, outcome studies on central CH are scarce. Most patients with central CH have multiple pituitary hormone deficiencies (MPHD); these patients are also at risk for neonatal hypoglycemia. Objective: To assess cognitive and...article 2021
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Naafs, J.C. (author), Marchal, J.P. (author), Verkerk, P.H. (author), Fliers, E. (author), van Trotsenburg, A.S.P. (author), Zwaveling-Soonawala, N. (author)Context. Central congenital hypothyroidism (CH) requires lifelong medical treatment. The majority of children with central CH have multiple pituitary hormone deficiencies (MPHD), but in some cases central CH is isolated. Most pituitary hormone deficiencies are associated with impaired health-related quality of life (HRQoL). However, studies on...article 2021
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van Dijk, T. (author), Kater, A. (author), Jansen, M. (author), Dondorp, W.J. (author), Blom, M. (author), Kemp, S. (author), Langeveld, M. (author), Cornel, M.C. (author), van der Pal, S.M. (author), Henneman, L. (author)Neonatal bloodspot screening (NBS) aims to detect treatable disorders in newborns. The number of conditions included in the screening is expanding through technological and therapeutic developments, which can result in health gain for more newborns. NBS expansion, however, also poses healthcare, ethical and societal challenges. This qualitative...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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Zwaveling-Soonawala, N. (author), Trotsenburg, A.S. (author), Verkerk, P.H. (author)Congenital hypothyroidism (CH) may be of thyroidal (CHT) or central origin (CHC). Worldwide, most neonatal screening programs are TSH based and effectively detect CHT. Only a few screening programs measure total or free T4 and TSH simultaneously or stepwise, enabling detection of CHT as well as CHC. A frequently used argument against screening...article 2015
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Boelen, A. (author), van Veen, M. (author), Verkerk, P.H. (author), Diependaal, G. (author), Loeber, G. (author), Elvers, B. (author), Endert, E. (author)The Dutch neonatal screening scheme for Congenital Hypothyroidism (CH) is primarily based on the determination of thyroxine (T4) in filter paper blood spots. In the lowest 5% of T4 values, thyroxine binding globulin (TBG) is measured in order to be able to correct for occasional low TBG levels. However, because the commercial TBG kit has been...article 2013
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van Spronsen, F.J. (author), Rijn, M. (author), Dorgelo, B. (author), Hoeksma, M. (author), Bosch, A.M. (author), Mulder, M.F. (author), de Klerk, J.B.C. (author), de Koning, T. (author), Rubio-Gozalbo, M.E. (author), de Vries, M. (author), Verkerk, P.H. (author)Background: The clinical severity of phenylalanine hydroxylase deficiency is usually defined by either pre-treatment phenylalanine (Phe) concentration or Phe tolerance at 5 years of age. So far, little is known about the course of Phe tolerance or the ability of both pre-treatment Phe and Phe tolerance at early age to predict Phe tolerance at...article 2009
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Peters, M. (author), Appel, I.M. (author), Cnossen, M.H. (author), Breuning-Boers, J.M. (author), Heijboer, H. (author)Doel Evalueren van de uitkomsten van het eerste jaar na invoering van de uitbreiding van de landelijke hielprikscreening met sikkelcelziekte (SCZ). Opzet Prospectieve landelijke registratie van kinderen met vermoedelijk SCZ of een andere vorm van ernstige hemoglobinopathie. Methode De bloedspots werden geanalyseerd met een...article 2009
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Uilenburg, N. (author), de Kauffman-Boer, M. (author), van der Ploeg, K. (author), Oudesluys-Murphy, A.M. (author), Verkerk, P. (author), TNO Kwaliteit van Leven (author)The objective of this study was to investigate whether universal neonatal hearing screening could be integrated in the youth health care program. The screening was performed by nurses of the well baby clinics. A three stage transient evoked otoacoustic emission screening was performed in three different screening settings in order to study the...article 2009
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Detmar, S. (author), Dijkstra, N. (author), Nijsingh, N. (author), Rijnders, M. (author), Verweij, M. (author), Hosli, E. (author), TNO Kwaliteit van Leven (author), KvL (author)Background: Advances in genomics will open up opportunities in the fields of genetic testing, early diagnosis and disease treatment. While neonatal screening is the field of application par excellencefor these developments, the debate on its potential benefits and drawbacks is mainly theoretically driven and based on the opinions of...article 2008
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van der Ploeg, C.P.B. (author), Lanting, C.I. (author), de Kauffman-Boer, M.A. (author), Uilenburg, N.N. (author), de Ridder-Sluiter, J.G. (author), Verkerk, P.H. (author), TNO Kwaliteit van Leven (author), KvL (author)Objective: To investigate whether false-positive outcomes on neonatal hearing screening cause long-lasting parental concerns. Methods: A general population of parents whose children had participated in the universal neonatal hearing screening (UNHS) programme were examined. Parents filled out a questionnaire 6 months after UNHS. Outcomes were...article 2008
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Detmar, S. (author), Hosli, E. (author), Dijkstra, N. (author), Nijsingh, N. (author), Rijnders, M. (author), Verweij, M. (author), TNO Kwaliteit van Leven (author)Background: The current neonatal screening program ("the heel prick") involves taking a few drops of blood from almost every newborn in the Netherlands to determine whether the child is suffering from one of three congenital disorders: phenylketonuria, congenital hypothyroid, or adrenogenital syndrome. This study investigated the preferences and...article 2007
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TNO Kwaliteit van Leven (author), Kempers, M.J.E. (author), van der Sluijs Veer, L. (author), Nijhuis-van der Sanden, R.W.G. (author), Lanting, C.I. (author), Kooistra, L. (author), Wiedijk, B.M. (author), Last, B.F. (author), de Vijlder, J.J.M. (author), Grootenhuis, M.A. (author), Vulsma, T. (author)Context: Patients with thyroidal congenital hypothyroidism (CH-T) born in The Netherlands in 1981-1982 showed persistent intellectual and motor deficits during childhood and adulthood, despite initiation of T4 supplementation at a median age of 28 d after birth. Objective: The present study examined whether advancement of treatment initiation to...article 2007
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Hille, E.T.M. (author), van Straaten, H.L.M. (author), Verkerk, P.H. (author), van Straaten, I. (author), Verkerk, P. (author), Hille, E. (author), Baerts, W. (author), Bunkers, C. (author), Smink, E. (author), van Elburg, R. (author), de Kleine, M. (author), Kok, J.H. (author), Ilsen, A. (author), Visser, D. (author), Steiner, K. (author), de Vries, L.S. (author), Weisglas-Kuperus, N. (author), Sprij, A. (author), Lopriori, E. (author), Brokx, J. (author), Gavilanes, D. (author), Geven, W. (author), Bos, A. (author), TNO Kwaliteit van Leven (author)Aim: To determine the prevalence and independent relationship between hearing loss and risk factors in a representative neonatal intensive care unit (NICU) population. Methods: Automated auditory brainstem response (AABR) hearing screening has been introduced since 1998 in the Dutch NICUs. After a second AABR failure, diagnostic ABR was used to...article 2007
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TNO Kwaliteit van Leven (author), Kempers, M.J.E. (author), Lanting, C.I. (author), van Heijst, A.F.J. (author), van Trotsenburg, A.S.P. (author), Wiedijk, B.M. (author), de Vijlder, J.J.M. (author), Vulsma, T. (author)Context: The Dutch T4-TSH-TBG-based neonatal screening program detects patients with congenital hypothyroidism (CH) of thyroidal (CH-T) as well as central (CH-C) origin. The numbers and characteristics of true-positive and false-positive referrals will differ from other, predominantly TSH-based, screening methods. Objective: The present study...article 2006
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van den Akker-van Marle, M.E. (author), Dankert, H.M. (author), Verkerk, P.H. (author), Dankert-Roelse, J.E. (author), TNO Kwaliteit van Leven (author)OBJECTIVES. The purpose of this work was to assess the costs of 4 neonatal screening strategies for cystic fibrosis in relation to health effects. In each strategy, the first test was the measurement of serum concentration of immunoreactive trypsin. The second step consisted of either a second immunoreactive trypsin test (strategy 1) or a...article 2006
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Lanting, C.I. (author), van Tijn, D.A. (author), Loeber, J.G. (author), Vulsma, T. (author), de Vijlder, J.J.M. (author), Verkerk, P.H. (author), TNO Preventie en Gezondheid (author)Context. Since the introduction of screening for congenital hypothyroidism (CH) in 1974, the optimal laboratory strategy has been the subject of debate. Objective. To assess the clinical effectiveness and cost-effectiveness of various types of thyroxine (T4)-based strategies to screen for CH. Design, Setting, and Participants. In the Netherlands...article 2005
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Crone, M.R. (author), Spronsen, F.J. (author), Oudshoorn, K. (author), Bekhof, J. (author), van Rijn, G. (author), Verkerk, P.H. (author), TNO Preventie en Gezondheid (author)Background. The objective of this study was to determine the importance of parental factors possibly related to dietary control in early and continuously treated patients with phenylketonuria (PKU). Methods. A questionnaire was disseminated among parents of 238 patients with PKU born after the nationwide introduction of newborn screening for PKU...article 2005
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TNO Preventie en Gezondheid (author), van der Kamp, H.J. (author), Oudshoorn, C.G.M. (author), Elvers, B.H. (author), van Baarle, M. (author), Otten, B.J. (author), Wit, J.M. (author), Verkerk, P.H. (author)Objective: In newborn screening programs for congenital adrenal hyperplasia, 17-α-hydroxyprogesterone (17OHP) cutoff levels are based on birth weight (BW) or on gestational age (GA). We investigated which approach would result in the greatest specificity and sensitivity. Study design: For the determination of 17OHP, a neonatal 17OHP assay was...article 2005
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