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Optimization of performance of Dutch newborn screening for cystic fibrosis

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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Improving the Dutch Newborn Screening for Central Congenital Hypothyroidism by Using 95% Reference Intervals for Thyroxine-Binding Globulin

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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Economic Evaluation of Different Screening Strategies for Severe Combined Immunodeficiency Based on Real-Life Data

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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The Methodological Quality and Challenges in Conducting Economic Evaluations of Newborn Screening: A Scoping Review

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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Newborn blood spot screening for cystic fibrosis with a four-step screening strategy in the Netherlands

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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Cost-effectiveness of newborn screening for severe combined immunodeficiency

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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TSH and FT4 concentrations in congenital central hypothyroidism and mild congenital thyroidal hypothyroidism

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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Introducing Newborn Screening for Severe Combined Immunodeficiency (SCID) in the Dutch Neonatal Screening Program

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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Cost-effectiveness of newborn screening for cystic fibrosis determined with real-life data

van der Ploeg, C.P.B. (author), van den Akker-van Marle, M.E. (author), Vernooij-van Langen, A.M.M. (author), Elvers, L.H. (author), Gille, J.J.P. (author), Verkerk, P.H. (author), Dankert-Roelse, J.E. (author), Loeber, J.G. (author), Triepels, R.H. (author), van der Pal, S.M. (author), Dompeling, E. (author), Pals, G. (author), Gulmans, V.A.M. (author), Oey-Spauwen, M.J.W. (author), Wijnands, Y.H.H.M. (author), Castricum, L.M. (author), Arets, H.G.M. (author), van der Ent, C.K. (author), Tiddens, H.A.W.M. (author), de Rijke, Y.B. (author), Yntema, J.B. (author)

BACKGROUND: Previous cost-effectiveness studies using data from the literature showed that newborn screening for cystic fibrosis (NBSCF) is a good economic option with positive health effects and longer survival. METHODS: We used primary data to compare cost-effectiveness of four screening strategies for NBSCF, i.e. immunoreactive trypsinogen...

article 2015

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Hearing loss by week of gestation and birth weight in very preterm neonates

van Dommelen, P. (author), Verkerk, P.H. (author), van Straaten, H.L. (author)

Objective To gain insight into health and related costs associated with very preterm births, one needs accurate information about the prevalence of the disabling conditions, including neonatal hearing loss (NHL). Study design We assessed the prevalence of NHL by week of gestation and categories of birth weight in very preterm neonates. Results...

article 2015

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The severity of congenital hypothyroidism of central origin should not be underestimated

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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Parental knowledge reduces long term anxiety induced by false-positive test results after newborn screening for cystic fibrosis

Vernooij-van Langen, A.M.M. (author), van der Pal, S.M. (author), Reijntjens, A.J.T. (author), Loeber, J.G. (author), Dompeling, E. (author), Dankert-Roelse, J.E. (author)

Background: False-positive screening results in newborn screening for cystic fibrosis may lead to parental stress, family relationship problems and a changed perception of the child's health. Aim of the study: To evaluate whether parental anxiety induced by a false positive screening result disappears after six months and to assess whether a...

article 2014

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To know or not to know, disclosure of a newborn carrier screening test result for cystic fibrosis

Vernooij-van Langen, A.M.M. (author), Reijntjes, S. (author), van der Pal, S.M. (author), Loeber, G.J. (author), Dompeling, E. (author), Dankert-Roelse, J.E. (author)

article 2013

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To know or not to know, disclosure of a newborn carrier screening test result for cystic fibrosis

Vernooij-van Langen, A.M.M. (author), Reijntjens, S. (author), van der Pal, S.M. (author), Loeber, J.G. (author), Dompeling, E. (author), Dankert-Roelse, J.E. (author)

Purpose: Most newborn screening (NBS) strategies for Cystic Fibrosis (CF) also identify carriers. However, it is unclear if parents want to be informed about their child's carrier status or not. Methods: Focus group discussions with pregnant couples to explore their opinions about disclosure of a carrier result for CF of their newborn. Results:...

article 2013

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Do false positive test results for newborn screening for cystic fibrosis lead to long term parental anxiety?

Vernooij-van Langen, A.M.M. (author), Reijntjens, S. (author), van der Pal, S.M. (author), Loeber, J.G. (author), Dompeling, E. (author), Dankert-Roelse, J.E. (author)

article 2011

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Sikkelcelziekte in de hielprikscreening I [Sickle cell disease in newborn screening: I. Children detected in the first year I}

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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Examination of long-lasting parental concern after false-positive results of neonatal hearing screening

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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Neonatal screening for congenital hypothyroidism based on thyroxine, thyrotropin, and thyroxine-binding globulin measurement: Potentials and pitfalls

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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Clinical effectiveness and cost-effectiveness of the use of the thyroxine/thyroxine-binding globulin ratio to detect congenital hypothyroidism of thyroidal and central origin in a neonatal screening program

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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Behavioural factors related to metabolic control in patients with phenylketonuria

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