Publications by authors named "Peter C J I Schielen"

46Publications

Neonatal carnitine concentrations in relation to gestational age and weight.

JIMD Rep 2020 Nov 8;56(1):95-104. Epub 2020 Sep 8.

Reference Laboratory for Neonatal Screening, Centre for Health Protection Dutch National Institute for Public Health and the Environment Bilthoven The Netherlands.

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November 2020

Zoltan Lukacs Passed Away.

Int J Neonatal Screen 2020 Nov 3;6(4). Epub 2020 Nov 3.

Office of the International Society for Neonatal Screening, Reigerskamp 273, 3607 HP Maarssen, The Netherlands.

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November 2020

Instability of Acylcarnitines in Stored Dried Blood Spots: The Impact on Retrospective Analysis of Biomarkers for Inborn Errors of Metabolism.

Int J Neonatal Screen 2020 Nov 2;6(4). Epub 2020 Nov 2.

Laboratory of Metabolic Diseases, Department of Laboratory Medicine, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, The Netherlands.

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November 2020

Critical evaluation of the newborn screening for congenital hypothyroidism in the Netherlands.

Eur J Endocrinol 2020 Sep;183(3):265-273

Endocrinology Laboratory, Department of Clinical Chemistry, Amsterdam Gastroenterology & Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.

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September 2020

Prediction of VLCAD deficiency phenotype by a metabolic fingerprint in newborn screening bloodspots.

Biochim Biophys Acta Mol Basis Dis 2020 06 19;1866(6):165725. Epub 2020 Feb 19.

Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, Utrecht University, Lundlaan 6, 3584 EA Utrecht, The Netherlands. Electronic address:

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June 2020

Newborn Screening for Lysosomal Storage Disorders: Methodologies for Measurement of Enzymatic Activities in Dried Blood Spots.

Int J Neonatal Screen 2019 Mar 21;5(1). Epub 2018 Dec 21.

Head Reference Laboratory for Neonatal Screening, Center for Health Protection, National Institute for Public Health and the Environment (RIVM), P. O. Box 1, 3720 BA Bilthoven, The Netherlands.

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March 2019

Cost-effectiveness of newborn screening for severe combined immunodeficiency.

Eur J Pediatr 2019 May 25;178(5):721-729. Epub 2019 Feb 25.

Department of Medical Decision Making, Leiden University Medical Center, PO box 9600, 2300 RC, Leiden, The Netherlands.

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May 2019

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

Int J Neonatal Screen 2018 Dec 12;4(4):40. Epub 2018 Dec 12.

Department of Biologicals, Screening and Innovation, Centre for Health Protection, National Institute of Public Health and the Environment (RIVM), P.O. Box 1, 3720 BA Bilthoven, The Netherlands.

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December 2018

Recommendations for newborn screening for galactokinase deficiency: A systematic review and evaluation of Dutch newborn screening data.

Mol Genet Metab 2018 05 21;124(1):50-56. Epub 2018 Mar 21.

Department of Pediatrics, Division of Metabolic Disorders, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands. Electronic address:

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May 2018

Raising Awareness of False Positive Newborn Screening Results Arising from Pivalate-Containing Creams and Antibiotics in Europe When Screening for Isovaleric Acidaemia.

Int J Neonatal Screen 2018 Mar 10;4(1). Epub 2018 Feb 10.

Reference Laboratory for Neonatal Screening, Centre for Health Protection, National Institute for Public Health and the Environment (RIVM), 3720 BA Bilthoven, The Netherlands.

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March 2018

Neonatal screening parameters in infants with congenital Cytomegalovirus infection.

Clin Chim Acta 2017 Oct 25;473:191-197. Epub 2017 Aug 25.

Department of Medical Microbiology, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden, The Netherlands. Electronic address:

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October 2017

Newborn Screening for Lysosomal Storage Diseases: A Concise Review of the Literature on Screening Methods, Therapeutic Possibilities and Regional Programs.

Int J Neonatal Screen 2017 Jun 29;3(2). Epub 2017 Mar 29.

Departments of Chemistry and Biochemistry, University of Washington, Seattle, WD 98195, USA.

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June 2017

An evaluation of the TREC assay with regard to the integration of SCID screening into the Dutch newborn screening program.

Clin Immunol 2017 07 6;180:106-110. Epub 2017 May 6.

Centre for Infectious Diseases Research, Diagnostics and Screening, Institute of Public Health and the Environment (RIVM), Bilthoven, The Netherlands. Electronic address:

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July 2017

Perspectives, preferences and needs regarding early prediction of preeclampsia in Dutch pregnant women: a qualitative study.

BMC Pregnancy Childbirth 2017 01 7;17(1):12. Epub 2017 Jan 7.

Department of Obstetrics, University Medical Center Utrecht, Room KE04.123.1, P.O. Box 85090, 3508AB, Utrecht, The Netherlands.

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January 2017

Pregnancy Associated Plasma Protein-A and Placental Growth Factor in a Sub-Saharan African Population: A Nested Cross-Sectional Study.

PLoS One 2016 17;11(8):e0159592. Epub 2016 Aug 17.

Center for Infectious Diseases Research, Diagnostics and Screening (IDS), National Institute for Public Health and the Environment (RIVM), Bilthoven, The Netherlands.

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August 2017

Present to future: what the reasons for declining first-trimester combined testing tell us about accepting or declining cell-free DNA testing.

Prenat Diagn 2016 Jun 10;36(6):587-90. Epub 2016 May 10.

Department of Clinical Genetics, section Community Genetics and EMGO Institute for Health and Care Research, VU University Medical Center, Amsterdam, The Netherlands.

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June 2016

Inborn Errors of Metabolism That Cause Sudden Infant Death: A Systematic Review with Implications for Population Neonatal Screening Programmes.

Neonatology 2016 24;109(4):297-302. Epub 2016 Feb 24.

Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

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November 2017

First-Trimester Serum Acylcarnitine Levels to Predict Preeclampsia: A Metabolomics Approach.

Dis Markers 2015 4;2015:857108. Epub 2015 Jun 4.

Centre for Health Protection (GZB), National Institute for Public Health and the Environment (RIVM), 3720 BA Bilthoven, Netherlands.

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February 2016

Predictive performance of a seven-plex antibody array in prenatal screening for Down Syndrome.

Dis Markers 2015 23;2015:519851. Epub 2015 Apr 23.

Centre for Health Protection (GZB), National Institute for Public Health and the Environment (RIVM), P.O. Box 1, 3720 BA Bilthoven, Netherlands.

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December 2015

Comparison of different blood collection, sample matrix, and immunoassay methods in a prenatal screening setting.

Dis Markers 2014 15;2014:509821. Epub 2014 Jul 15.

Centre for Health Protection (GZB), National Institute for Public Health and the Environment (RIVM), P.O. Box 1, 3720 BA Bilthoven, The Netherlands.

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April 2015

Metabolomics profiling for identification of novel potential markers in early prediction of preeclampsia.

PLoS One 2014 29;9(5):e98540. Epub 2014 May 29.

Leiden Academic Center for Drug Research, Division of Analytical Biosciences, Leiden University, Leiden, The Netherlands; The Netherlands Metabolomics Centre, Leiden University, Leiden, the Netherlands.

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January 2015

Positive predictive values for detection of trisomies 21, 18 and 13 and termination of pregnancy rates after referral for advanced maternal age, first trimester combined test or ultrasound abnormalities in a national screening programme (2007-2009).

Prenat Diagn 2014 Mar 23;34(3):259-64. Epub 2014 Jan 23.

Reference Laboratory for Pre- and Neonatal Screening/Laboratory for Infectious Diseases and Screening, National Institute for Public Health and the Environment, Bilthoven, The Netherlands.

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March 2014

Identification of interleukin-1 beta, but no other inflammatory proteins, as an early onset pre-eclampsia biomarker in first trimester serum by bead-based multiplexed immunoassays.

Prenat Diagn 2013 Dec 31;33(12):1183-8. Epub 2013 Aug 31.

Centre for Infectious Disease Research, Diagnostics and Screening (IDS), National Institute for Public Health and the Environment (RIVM), Bilthoven, The Netherlands.

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December 2013

Maternal characteristics, mean arterial pressure and serum markers in early prediction of preeclampsia.

PLoS One 2013 22;8(5):e63546. Epub 2013 May 22.

Department of Obstetrics, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht, The Netherlands.

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April 2014

Factors determining uptake of invasive testing following first-trimester combined testing.

Prenat Diagn 2013 Apr 18;33(4):328-33. Epub 2013 Feb 18.

Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.

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April 2013

Comparison of risk calculation approaches in a screening programme for Down syndrome.

J Perinat Med 2012 Jan 23;40(3):259-63. Epub 2012 Jan 23.

Laboratory for Infectious Diseases and Screening, National Institute for Public Health and the Environment, Bilthoven, The Netherlands.

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January 2012

Quantitative performance of antibody array technology in a prenatal screening setting.

Clin Chem Lab Med 2011 Oct 28;50(2):325-32. Epub 2011 Oct 28.

Laboratory for Health Protection Research, National Institute of Public Health and the Environment, Bilthoven, The Netherlands.

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October 2011

Integrative data mining to identify novel candidate serum biomarkers for pre-eclampsia screening.

Prenat Diagn 2011 Dec 22;31(12):1153-9. Epub 2011 Sep 22.

Laboratory for Health Protection Research, National Institute for Public Health and the Environment, Bilthoven, The Netherlands.

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December 2011

Evaluation of 7 serum biomarkers and uterine artery Doppler ultrasound for first-trimester prediction of preeclampsia: a systematic review.

Obstet Gynecol Surv 2011 Apr;66(4):225-39

Department of Obstetrics, Wilhelmina Children's Hospital, University Medical Center Utrecht, The Netherlands.

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April 2011

Gene expression profiling in a mouse model identifies fetal liver- and placenta-derived potential biomarkers for Down Syndrome screening.

PLoS One 2011 Apr 14;6(4):e18866. Epub 2011 Apr 14.

Laboratory for Health Protection Research (GBO), National Institute for Public Health and the Environment (RIVM), Bilthoven, The Netherlands.

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April 2011

Down syndrome screening: imagining the screening test of the future.

Expert Rev Mol Diagn 2010 May;10(4):445-57

National Institute for Public Health and the Environment (RIVM), PO Box 1, NL-3720BA Bilthoven, The Netherlands.

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May 2010

Discovery of novel serum biomarkers for prenatal Down syndrome screening by integrative data mining.

PLoS One 2009 Nov 24;4(11):e8010. Epub 2009 Nov 24.

Laboratory for Health Protection Research (GBO), National Institute for Public Health and the Environment (RIVM), Bilthoven, The Netherlands.

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November 2009

Costs and effects of prenatal screening methods for Down syndrome and neural tube defects.

Community Genet 2008 5;11(6):359-67. Epub 2008 Aug 5.

Department of Health Organization, Policy and Economics, Maastricht University, Maastricht, The Netherlands.

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November 2008