Publications by authors named "Bert Elvers"
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 However, because the commercial TBG kit has been withdrawn from the market, alternative strategies are needed to be explored including the assessment of free T4.
View Article and Find Full Text PDFDeficiency of ornithine-δ-aminotransferase (OAT) in humans results in gyrate atrophy. Early diagnosis may allow initiation of treatment before irreversible damage has occurred. However, diagnosis is commonly delayed well into adulthood because of the nonspecific character of initial symptoms.
View Article and Find Full Text PDFMeasuring IgG antibodies against pertussis toxin (IgG-Ptx) with an enzyme-linked immunosorbent assay (ELISA) can be used to diagnose pertussis infection; however, the cutoff points are not unanimously defined. To determine the diagnostic specificity of increases of IgG-Ptx in paired sera and of absolute values in single serum samples, we applied a two-component cluster analysis to serum samples of patients suspected for pertussis, whose sera had been submitted to a routine diagnostic laboratory between 2003 and 2009, and had been assayed with an in-house IgG-Ptx ELISA calibrated with the international FDA lot 3 IgG-Ptx reference serum. Children eligible for the acellular pertussis vaccination were excluded to avoid interference from a vaccine-induced IgG-Ptx rise.
View Article and Find Full Text PDFArticle Synopsis
- A collaborative effort involving 154 laboratories across 49 countries aims to enhance newborn screening quality using a new approach based on tandem mass spectrometry.
- Multivariate pattern recognition software was developed by analyzing a large database of results, allowing for the integration of multiple clinical data points into a single score.
- The evaluation of this approach indicates significant improvements, with tools potentially reducing false-positive diagnoses by over 50% and false-negative cases by 88%, contributing to very low false-positive rates in Minnesota's screening results.
Background: Pancreatitis-associated protein (PAP) is currently discussed as a marker in newborn screening (NBS) for cystic fibrosis (CF). However, it is not known if PAP concentrations are influenced by sex, gestational age, birth weight, blood transfusion or time of collection and what this would mean for NBS for CF.
Methods: In 2008 all newborns in part of the Netherlands were screened for CF by an IRT/PAP protocol.
Background: Since the introduction of medium-chain acyl coenzyme A dehydrogenase (MCAD) deficiency in population newborn bloodspot screening (NBS) programs, subjects have been identified with variant ACADM (gene encoding MCAD enzyme) genotypes that have never been identified in clinically ascertained patients. It could be hypothesised that residual MCAD enzyme activity can contribute in risk stratification of subjects with variant ACADM genotypes.
Methods: We performed a retrospective cohort study of all patients identified upon population NBS for MCAD deficiency in the Netherlands between 2007-2010.
Context: Newborn screening for cystic fibrosis (CF) is included in many routine programmes but current strategies have considerable drawbacks, such as false-positive tests, equivocal diagnosis and detection of carriers.
Objective: To assess the test performance of two newborn screening strategies for CF.
Design, Setting And Participants: In 2008 and 2009, CF screening was added to the routine screening programme as a prospective study in part of The Netherlands.
Article Synopsis
- The study aimed to clinically validate cutoff values for newborn screening using tandem mass spectrometry by collaborating globally.
- Researchers analyzed data from about 25-30 million normal newborns and over 10,700 true positive cases to establish clinically significant cutoff ranges.
- As of December 2010, data from 130 sites in 45 countries contributed to defining cutoff ranges for 114 markers, showcasing a high level of international cooperation in screening for rare metabolic disorders.
Background: The birth prevalence of severe haemoglobinopathies such as sickle cell disease (SCD) in the Netherlands has been estimated to be at least 50 newborns per year. Neonatal screening for SCD was added to the Dutch screening programme in January 2007. We here evaluated three high performance liquid chromatography (HPLC) systems for application in neonatal screening for haemoglobinopathies, and present the results of a subsequent pilot screening programme.
View Article and Find Full Text PDFBordetella pertussis infection may cause severe illness in newborns. Mothers with B. pertussis infection during delivery can infect newborns.
View Article and Find Full Text PDFObjective: In newborn screening programs for congenital adrenal hyperplasia, 17-alpha-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 used in filter paper blood of 9492 newborns.