Psychosocial Impact of a True-Positive, False-Positive, or Inconclusive Newborn Bloodspot Screening Result: A Questionnaire Study among Parents.

Expansion of newborn bloodspot screening (NBS) can increase health gain for more children but also increases the number of false-positive and uncertain results. The impact of abnormal and inconclusive NBS results on parental well-being and healthcare utilization was investigated. A questionnaire was sent to Dutch parents receiving an abnormal or inconclusive NBS result five weeks (T1) and four months (T2) post-NBS and compared to parents with a normal result (controls).

Optimizing the Dutch newborn screening for congenital hypothyroidism by incorporating amino acids and acylcarnitines in a machine learning-based model.

Objective: Congenital hypothyroidism (CH) is an inborn thyroid hormone (TH) deficiency mostly caused by thyroidal (primary CH) or hypothalamic/pituitary (central CH) disturbances. Most CH newborn screening (NBS) programs are thyroid-stimulating-hormone (TSH) based, thereby only detecting primary CH. The Dutch NBS is based on measuring total thyroxine (T4) from dried blood spots, aiming to detect primary and central CH at the cost of more false-positive referrals (FPRs) (positive predictive value (PPV) of 21% in 2007-2017).

Machine learning to improve false-positive results in the Dutch newborn screening for congenital hypothyroidism.

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) measurements enabling detection of both CH-T and CH-C, with a positive predictive value (PPV) of 21%. A calculated T4/TBG ratio serves as an indirect measure for free T4. The aim of this study is to investigate whether machine learning techniques can help to improve the PPV of the algorithm without missing the positive cases that should have been detected with the current algorithm.

Parents' views on accepting, declining, and expanding newborn bloodspot screening.

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 NBS.

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

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 strategies. In this study, the cost(-effectiveness) of different NBS strategies for SCID was estimated based on real-life data from a prospective implementation study in the Netherlands.

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

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 optimal strategy among different screening programs, including the no-screening option, on different conditions. These economic analyses of NBS, however, are hindered by several methodological challenges.

Costs and effects of conventional vision screening and photoscreening in the Dutch preventive child health care system.

Background: Little is known about costs and effects of vision screening strategies to detect amblyopia. Aim of this study was to compare costs and effects of conventional (optotype) vision screening, photoscreening or a combination in children aged 3-6 years.

Methods: Population-based, cross-sectional study in preventive child health care in The Hague.

Evaluating progress towards triple elimination of mother-to-child transmission of HIV, syphilis and hepatitis B in the Netherlands.

Background: In 2014 the World Health Organisation (WHO) established validation criteria for elimination of mother-to-child transmission (EMTCT) of HIV and syphilis. Additionally, the WHO set targets to eliminate hepatitis, including hepatitis B (HBV). We evaluated to what extent the Netherlands has achieved the combined WHO criteria for EMTCT of HIV, syphilis and HBV.

Cost-effectiveness of newborn screening for severe combined immunodeficiency.

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 newborn screening program is relevant for decision making.

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

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 executed with a new, relatively expensive assay for the Dutch screening laboratory, an implementation pilot study is deemed instrumental for successful implementation.

Sensitivity of fetal RHD screening for safe guidance of targeted anti-D immunoglobulin prophylaxis: prospective cohort study of a nationwide programme in the Netherlands.

Objective:  To determine the accuracy of non-invasive fetal testing for the RHD gene in week 27 of pregnancy as part of an antenatal screening programme to restrict anti-D immunoglobulin use to women carrying a child positive for RHD DESIGN:  Prospectively monitoring of fetal RHD testing accuracy compared with serological cord blood typing on introduction of the test. Fetal RHD testing was performed with a duplex real time quantitative polymerase chain reaction, with cell-free fetal DNA isolated from 1 mL of maternal plasma The study period was between 4 July 2011 and 7 October 2012. The proportion of women participating in screening was determined.

[Foetal Rhesus-D typing added to antenatal screening for infectious diseases and erythrocyte immunisation].

Objective: Investigation of the accuracy and national implementation of foetal Rhesus-D typing (fRhD), introduced in 2011 for RhD-negative pregnant women.

Design: Descriptive, national study.

Method: Results of fRhD in pregnant women in the first year after implementation were compared to results from cord blood RhD typing of the child.

Burden of Sickness Absence Due to Chronic Disease in the Dutch Workforce from 2007 to 2011.

Introduction: Chronic diseases are associated with productivity loss costs due to sickness absence. It is not always clear, however, which chronic diseases in particular are involved with how many sickness days and associated costs.

Objective: To determine the prevalence, additional days of sickness absence, and associated costs of chronic diseases among the Dutch working population from 2007 to 2011.

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

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.

Helmet therapy in infants with positional skull deformation: randomised controlled trial.

Objective: To determine the effectiveness of helmet therapy for positional skull deformation compared with the natural course of the condition in infants aged 5-6 months.

Design: Pragmatic, single blinded, randomised controlled trial (HEADS, HElmet therapy Assessment in Deformed Skulls) nested in a prospective cohort study.

Setting: 29 paediatric physiotherapy practices; helmet therapy was administered at four specialised centres.

Implementation of a cost-effective strategy to prevent neonatal early-onset group B haemolytic streptococcus disease in the Netherlands.

Background: Early-onset Group B haemolytic streptococcus infection (EOGBS) is an important cause of neonatal morbidity and mortality in the first week of life. Primary prevention of EOGBS is possible with intra-partum antibiotic prophylaxis (IAP.) Different prevention strategies are used internationally based on identifying pregnant women at risk, either by screening for GBS colonisation and/or by identifying risk factors for EOGBS in pregnancy or labour.

Newborn hearing screening in youth health care in the Netherlands: National results of implementation and follow-up.

Objective: The aim of this study is to investigate whether the quality of the Dutch, community based, universal newborn hearing screening programme is consistent over time.

Design: Universal newborn hearing screening data from three cohorts are compared on a number of quality targets concerning the outcome of the screening and the process of the screening in a three stage, community based, hearing screening programme.

Study Sample: A total of 552 820 children entered the study (189 794 in 2002-2006; 181 574 in 2008, and 181 452 in 2009).

Novel strategies in newborn screening for cystic fibrosis: a prospective controlled study.

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.

Adolescents risky MP3-player listening and its psychosocial correlates.

Analogue to occupational noise-induced hearing loss, MP3-induced hearing loss may be evolving into a significant social and public health problem. To inform prevention strategies and interventions, this study investigated correlates of adolescents' risky MP3-player listening behavior primarily informed by protection motivation theory. We invited 1687 adolescents (12- to 19-year old) of Dutch secondary schools to complete questionnaires about their MP3-player listening, sociodemographic characteristics and presumed psychosocial determinants of MP3-player listening.

[Antenatal screening in the Netherlands for HIV, hepatitis B and syphilis is effective].

Objective: Evaluation of the effectiveness of antenatal screening in the Netherlands for HIV, hepatitis B virus (HBV) and syphilis, in preventing mother-to-child transmission.

Design: Descriptive.

Methods: The results of antenatal screening in the period 2006-2008 were compared with data from pregnant women and newborns from other data sources.

Young people: taking few precautions against hearing loss in discotheques.

This study evaluated adolescents' music-listening risk and protective behaviors in discotheques. While frequently standing close to the loudspeakers, taking few breaks, and hardly using hearing-protection devices, many are at risk of developing permanent hearing loss. Assessing visiting mode may be a first and quick screener to identify adolescents at risk.

Estimating adolescent risk for hearing loss based on data from a large school-based survey.

Objectives: We estimated whether and to what extent a group of adolescents were at risk of developing permanent hearing loss as a result of voluntary exposure to high-volume music, and we assessed whether such exposure was associated with hearing-related symptoms.

Methods: In 2007, 1512 adolescents (aged 12-19 years) in Dutch secondary schools completed questionnaires about their music-listening behavior and whether they experienced hearing-related symptoms after listening to high-volume music. We used their self-reported data in conjunction with published average sound levels of music players, discotheques, and pop concerts to estimate their noise exposure, and we compared that exposure to our own "loosened" (i.