scholarly journals Neonatal Screening for Severe Combined Immunodeficiency

2018 ◽  
Vol 05 (04) ◽  
Author(s):  
Goncalo Espirito Santo Matos ◽  
Laura Marques
Keyword(s):  
Neonatal Screening ◽  
Severe Combined Immunodeficiency ◽  
Combined Immunodeficiency

scholarly journals Early diagnosis of ataxia telangiectasia in the neonatal phase: a parents’ perspective

2019 ◽  
Vol 179 (2) ◽  
pp. 251-256 ◽  
Author(s):  
M. H. D. Schoenaker ◽  
M. Blom ◽  
M. C. de Vries ◽  
C. M. R. Weemaes ◽  
M. van der Burg ◽  
...  
Keyword(s):  
Family Planning ◽  
Early Diagnosis ◽  
Healthy Child ◽  
Ataxia Telangiectasia ◽  
Neonatal Screening ◽  
Neurodegenerative Disorder ◽  
Severe Combined Immunodeficiency ◽  
Diagnostic Process ◽  
Combined Immunodeficiency ◽  
Asymptomatic Phase

Abstract Ataxia telangiectasia (A-T) is a severe neurodegenerative disorder with variable immunodeficiency. Together with the Dutch A-T community, we investigated the opinion of A-T parents on an early A-T diagnosis in the asymptomatic phase of the disease. During an annual national meeting for A-T patients and families, the topic of an early A-T diagnosis was discussed in relation to the recent introduction of neonatal screening for severe combined immunodeficiency (SCID) in the Netherlands. Based on the discussion, individual arguments were identified and processed into a questionnaire, which was sent out to 64 A-T parents (32 families). Arguments included were insecurity to diagnosis, possible medical advantages, appropriate genetic counseling and family planning, loss of “golden” year(s), and early cancer screening for parents. The response rate was 55% (n = 35 parents). Twenty-six (74%) parents felt that the advantages of an early diagnosis outweighed the disadvantages, five parents thought that the disadvantages would outweigh the advantages (14%), and four parents did not indicate a preference. Conclusion: The majority of parents of a child with A-T would have preferred an early diagnosis during the asymptomatic phase of the disease, because the uncertainty during the diagnostic process had had a major impact on their lives. In addition, the knowledge of being carriers of an ATM gene mutation influenced decisions about family planning. Parents who opposed against an early diagnosis emphasized the joy of having a seemingly healthy child until diagnosis.What is Known:• Ataxia telangiectasia (A-T) is a devastating DNA repair disorder with a huge impact on quality of life of patients and their parents.• Patients with A-T may incidentally be identified at birth as the consequence of neonatal screening for severe combined immunodeficiency (SCID).What is New:• The majority of Dutch parents of A-T patients (74%) would have preferred an early diagnosis of their child in the asymptomatic phase of the disease.• Major arguments for an early A-T diagnosis were (1) the experienced insecurity in diagnostic trajectories and its impact on families and (2) the knowledge of being ATM mutation carriers when deciding about family planning. An argument against an early diagnosis is losing the joy of having a seemingly healthy child until diagnosis.

scholarly journals Neonatal screening for severe combined immunodeficiency in Brazil

2016 ◽  
Vol 92 (4) ◽  
pp. 374-380
Author(s):  
Marilia Pyles Patto Kanegae ◽  
Lucila Akune Barreiros ◽  
Juliana Themudo Lessa Mazzucchelli ◽  
Sonia Marchezi Hadachi ◽  
Laura Maria de Figueiredo Ferreira Guilhoto ◽  
...  
Keyword(s):  
Neonatal Screening ◽  
Severe Combined Immunodeficiency ◽  
Combined Immunodeficiency

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

2021 ◽  
Vol 7 (1) ◽  
pp. 15
Author(s):  
J. Gerard Loeber ◽  
Dimitris Platis ◽  
Rolf H. Zetterström ◽  
Shlomo Almashanu ◽  
François Boemer ◽  
...  
Keyword(s):  
Neonatal Screening ◽  
Muscular Atrophy ◽  
Severe Combined Immunodeficiency ◽  
Newborn Infants ◽  
Combined Immunodeficiency ◽  
Current State ◽  
Working Together ◽  
The 1960S ◽  
The Many ◽  
Made In

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.

scholarly journals Political analysis of the neonatal screening for severe combined immunodeficiency - Curitiba, Brazil

2020 ◽  
Vol 30 (Supplement_5) ◽  
Author(s):  
D R L Lima ◽  
P F I Goiozo ◽  
A Sanches ◽  
E De Carvalho ◽  
H A Carvalho ◽  
...  
Keyword(s):  
Public Health ◽  
Public Policy ◽  
Policy Analysis ◽  
Neonatal Screening ◽  
Severe Combined Immunodeficiency ◽  
Political Agenda ◽  
The Political ◽  
Combined Immunodeficiency ◽  
Term Survival ◽  
Wide Range

Abstract Severe Combined Immunodeficiency (SCID) is the most aggressive form of primary immunodeficiencies, being able to death within 2 years after birth. In the USA, the screening found that the incidence of SCID was double that previously stipulated, before screening. Israel, Taiwan, Spain and others European countries are also testing for SCID. The long-term survival of patients diagnosed and treated before 4 months of life reaches 94%. Brazil does not perform neonatal screening for SCID through the Public Health System (SUS), numbers are unknown and under-diagnosed, even the treatment for SCID is funded by SUS. Analyze the political dimensions of the bill that aims to implement neonatal screening for SCID in Curitiba, Brazil. Participatory research was carried out between March - October 2019 and, bibliographic research on policy analysis in the context of emerging countries, to understand the criteria are taken into account for the political agenda, the influence of interest groups and the influence of the political arena in the implementation of a public policy through policy analysis. The project is pending in the municipal legislature of Curitiba and faces issues related to the financing of the implementation - a wide range of dependent variables act in the construction of a public policy. Its materialization, although important for public health, must consider real possibilities of implementation. In parallel, independent of the bill, a screening pilot project is under preparation by doctors, academics, and civil society. Brazil has a feasible technique that can be implemented on a large scale for neonatal SCID screening. However, although strongly recommended by the medical community, the implementation of this policy can be unviable by political and financial issues. Key messages The implementation of a public policy involves decisions between institutions, rules of the game and political forces. Early diagnosis may reduce treatment costs, requiring public policies for SCID.

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