Global impact of COVID-19 on newborn screening programmes.

peer reviewedINTRODUCTION: The global COVID-19 pandemic has presented extraordinary disruption to healthcare services and exposed them to numerous challenges. Newborn screening (NBS) programmes were also affected; however, scarce data exist on the impact of COVID-19 on NBS. METHODS: We conducted an international survey to assess the global impact of COVID-19 on NBS, with the main aim of gathering the experiences of the COVID-19 pandemic from a large and representative number of NBS centres worldwide. RESULTS: The results of our study showed that COVID-19 impacted the NBS programmes, at least partially, in 29 out of 38 responding countries. Majority of the screening centres experienced a broad spectrum of difficulties and most were affected more in the second wave of the pandemic. Delays and unreliability with the postal service as well as flight cancellations caused delays in samples arriving to screening centres and with the provision of laboratory equipment and reagents. The availability of laboratory staff was sometimes reduced due to infection, quarantine or reassignment within the healthcare facility. Sample collection at home, second-tier tests and follow-up were also affected. Social restrictions and interruptions in public transport added to these difficulties. Only a limited number of centres managed to retain a fully functioning NBS programme. CONCLUSION: As the pandemic might continue or could recur in future years, it would be useful to develop guidelines to protect these valuable services

Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010

Neonatal screening (NBS) was initiated in Europe during the 1960s with the screening for phenylketonuria. The panel of screened disorders (“conditions”) then gradually expanded, with a boost in the late 1990s with the introduction of tandem mass spectrometry (MS/MS), making it possible to screen for 40–50 conditions using a single blood spot. The most recent additions to screening programmes (screening for cystic fibrosis, severe combined immunodeficiency and spinal muscular atrophy) were assisted by or realised through the introduction of molecular technologies. For this survey, we collected data from 51 European countries. We report the developments between 2010 and 2020 and highlight the achievements reached with the progress made in this period. We also identify areas where further progress can be made, mainly by exchanging knowledge and learning from experiences in neighbouring countries. Between 2010 and 2020, most NBS programmes in geographical Europe matured considerably, both in terms of methodology (modernised) and with regard to the panel of conditions screened (expanded). These developments indicate that more collaboration in Europe through European organisations is gaining momentum. We can only accomplish the timely detection of newborn infants potentially suffering from one of the many rare diseases and take appropriate action by working together

Executive functions in preschool children with aggressive behavior: impairments in inhibitory control

The question whether executive function (EF) deficits in children are associated with conduct problems remains controversial. Although the origins of aggressive behavior are to be found in early childhood, findings from EF studies in preschool children with aggressive behavior are inconsistent. The current study aimed to investigate whether preschool children with aggressive behavior show impairments in EF. From a population-based sample, 82 preschool children who were showing aggressive behavior as indicated by scores at or above the 93rd percentile on the Aggressive Behavior Scale of the CBCL 1 1/2-5 were selected. These children with aggressive behavior were matched on IQ to a group of typically developing control children (N=99). Six neuropsychological tasks were administered to assess set shifting, inhibition, working memory and verbal fluency. A factor analysis was conducted which yielded one clear factor: inhibition. Aggressive preschool children showed poorer performance on this inhibition factor than control children and boys performed worse on this factor than girls. This association between aggressive behavior and inhibition deficits was maintained after controlling for attention problems. In addition, gender differences in all EFs measured were found with boys exhibiting more impairment in EF than girls. These findings demonstrate that preschool children with aggressive behavior show impairments in inhibition, irrespective of attention problems

Abstracts of Presentations Scheduled for the 10th ISNS-Asia Pacific Regional Meeting, Ulaanbataar, Mongolia, 24–26 August 2017

The International Society for Neonatal Screening (ISNS) recognises six different geographical regions [...

Forty Years of Heel Prick Screening in the Netherlands

This book aims to provide an overview of developments in the heel prick screening programme in the Netherlands in which similarities with the situation elsewhere in the world, where relevant, will be mentioned. In the Netherlands, the preparations for the national screening programme started in 1964. The formal launch of the programme was on September 1, 1974. In 2014, therefore this programme had existed 40 years. The book is structured as follows. Chapter 1 describes how the programme began with one disease and over the years has continued to expand to currently covering 19 disorders. Chapter 2 focuses on the organisation of the screening programme and the agencies that have been involved over the years. Chapter 3 is intended to provide a global view of the programme in its current form. Chapter 4 describes how neonatal screening programmes elsewhere in the world developed and outline their main differences with the Dutch programme. Finally, Chapter 5 contains the summary and conclusions. This chosen structure leads to some aspects being mentioned more than once. The book is intended for a broad audience that is interested in policy making on heel prick screening; hence, scientific depth is limited. Where possible and useful, references to the scientific literature have been included but completeness has not been pursued. The main sources were the archives of the National Steering Committees for Phenylketonuria and Congenital Hypothyroidism (LBCs), supplemented with interviews with the persons listed in Annex 1 and, if available, their personal archives. This is a translation of the book “Veertig Jaar Hielprikscreening in Nederland”, that was published by Prelum Publishers, Houten, the Netherlands with ISBN 978-90-8562-133-1 © 2014 Prelum, Houten; RIVM, Bilthoven; Vumc, Amsterdam

[Neonatal screening in Europe revisited: An ISNS-perspective on the current state and developments since 2010].

Le dépistage néonatal a débuté en Europe dans les années 1960 avec celui de la phénylcétonurie. Le nombre de maladies dépistées a, par la suite, augmenté progressivement, de manière plus marquée à la fin des années 1990 avec l’arrivée de la spectrométrie de masse en tandem (MS/MS) qui a permis le dépistage de 40 à 50 maladies sur une seule goutte de sang séché. Les ajouts les plus récents à cette liste de maladies (mucoviscidose, déficits immunitaires combinés sévères et atrophie musculaire spinale) ont été rendus possibles grâce à la génétique moléculaire. À partir des informations provenant de 51 pays d’Europe, nous décrivons dans cette revue l’évolution du dépistage entre 2010 et 2020, ainsi que les progrès réalisés pendant cette période, tout en soulignant les aspects qui méritent d’être améliorés. Des progrès pourront en effet être accomplis grâce aux échanges d’informations et, pour certains pays, en tirant profit de l’expérience acquise dans des pays voisins. La plupart des programmes de dépistage mis en place dans l’Europe « géographique » au cours de cette période ont gagné en maturité en termes méthodologiques (modernisation des techniques) et en termes quantitatifs (augmentation du nombre des maladies dépistées). Ces développements nous montrent que la collaboration entre les différentes organisations s’accélère en Europe. Ce n’est qu’en travaillant ensemble que nous pourrons identifier en temps opportun les nouveau-nés atteints d’une des nombreuses maladies rares détectables et prendre les mesures qui s’imposent

Newborn screening programmes in Europe, arguments and efforts regarding harmonisation: Focus on organic acidurias

Background: The state of newborn screening (NBS) programmes for organic acidurias in Europe was assessed by a web-based questionnaire in the EU programme of Community Action in Public Health 2010/2011 among the – at that time – 27 EU member states, candidate countries, potential candidates and three EFTA countries. Results: Thirty-seven data sets from 39 target countries were analysed. Newborn screening for glutaric aciduria type I (GA-I) was performed in ten, for isovaleric aciduria (IVA) in nine and for methylmalonic aciduria including cblA, cblB, cblC and cblD (MMACBL) as well as for propionic aciduria (PA) in seven countries. Samples were obtained at a median age of 2.5 days and laboratory analysis began at median age of 4.5 days. Positive screening results were mostly confirmed in specialised centres by analysis of organic acids in urine. Confirmation of a positive screening result usually did not start before the second week of life (median ages: 9.5 days [IVA], 9 days [GA-I], 8.5 days [PA, MMACBL]) and was completed early in the third week of life (median ages: 15 days [IVA, PA, MMA], 14.5 days [GA-I]). Treatment was initiated in GA-I and IVA at a median age of 14 days and in MMACBL and PA at a median age of 15 days. Conclusion: NBS for organic acidurias in Europe is variable and less often established than for amino acid disorders. While for GA-I its benefit has already been demonstrated, there is room for debate of NBS for IVA and especially PA and MMACBL

Pattern of White Matter Abnormalities at MR Imaging: Use of Polymerase Chain Reaction Testing of Guthrie Cards to Link Pattern with Congenital Cytomegalovirus Infection

PURPOSE: To define a magnetic resonance (MR) imaging pattern suggestive of congenital cytomegalovirus (CMV) infection by using polymerase chain reaction (PCR) testing to detect CMV DNA in neonatal blood on Guthrie cards for validation. MATERIALS AND METHODS: On the basis of findings in eight patients with documented congenital CMV infection, the authors developed MR imaging inclusion criteria, including multifocal lesions predominantly located in the deep parietal white matter. If gyral abnormalities were present, white matter lesions were either multifocal or diffuse. The criteria were applied to 152 patients with static leukoencephalopathy of unknown etiology. Guthrie cards for 22 of the 43 patients fulfilling the MR imaging criteria, 20 patients not fulfilling them, and 300 control subjects were analyzed. Fisher exact testing was used to evaluate the association between MR imaging characteristics and CMV status, and backward elimination linear discriminant analysis was used to identify MR imaging characteristics predictive of CMV infection in addition to the initial criteria. RESULTS: PCR test results were positive in 12 of 22 patients suspected of having congenital CMV infection, in no patient not suspected of having infection (P < .001), and in two of 300 control subjects (negative predictive value [NPV] of MR imaging criteria, 100% [95% CI: 83%, 100%]; positive predictive value [PPV], 55% [95% CI: 32%, 76%]). The most important additional MR imaging finding predicting a positive PCR result was abnormality of the anterior part of the temporal lobe, including abnormal white matter, cysts, and enlargement of inferior horns. Including this finding in the MR imaging criteria enhanced the PPV (89%; 95% CI: 52%, 99%) at the expense of the NPV (88%; 95% CI: 72%, 97%). CONCLUSION: In patients with static encephalopathy, an MR imaging pattern of multifocal lesions predominantly involving deep parietal white matter, with or without gyral abnormalities, is predictive of congenital CMV infection. When gyral abnormalities are present, leukoencephalopathy may also be diffuse. The presence of abnormalities in the anterior part of the temporal lobe increases the likelihood that CMV infection is present