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 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 Newborn Blood Spot Screening Test Using Multiplexed Real-Time PCR to Simultaneously Screen for Spinal Muscular Atrophy and Severe Combined Immunodeficiency

2015 ◽  
Vol 61 (2) ◽  
pp. 412-419 ◽  
Author(s):  
Jennifer L Taylor ◽  
Francis K Lee ◽  
Golriz Khadem Yazdanpanah ◽  
John F Staropoli ◽  
Mei Liu ◽  
...  
Keyword(s):  
T Cell ◽  
Motor Neuron ◽  
Real Time ◽  
Real Time Pcr ◽  
Muscular Atrophy ◽  
Severe Combined Immunodeficiency ◽  
Combined Immunodeficiency ◽  
Smn1 Gene ◽  
Trec Assay ◽  
Blood Spot

Abstract BACKGROUND Spinal muscular atrophy (SMA) is a motor neuron disorder caused by the absence of a functional survival of motor neuron 1, telomeric (SMN1) gene. Type I SMA, a lethal disease of infancy, accounts for the majority of cases. Newborn blood spot screening (NBS) to detect severe combined immunodeficiency (SCID) has been implemented in public health laboratories in the last 5 years. SCID detection is based on real-time PCR assays to measure T-cell receptor excision circles (TREC), a byproduct of T-cell development. We modified a multiplexed real-time PCR TREC assay to simultaneously determine the presence or absence of the SMN1 gene from a dried blood spot (DBS) punch in a single reaction well. METHOD An SMN1 assay using a locked nucleic acid probe was initially developed with cell culture and umbilical cord blood (UCB) DNA extracts, and then integrated into the TREC assay. DBS punches were placed in 96-well arrays, washed, and amplified directly using reagents specific for TREC, a reference gene [ribonuclease P/MRP 30kDa subunit (RPP30)], and the SMN1 gene. The assay was tested on DBS made from UCB units and from peripheral blood samples of SMA-affected individuals and their family members. RESULTS DBS made from SMA-affected individuals showed no SMN1-specific amplification, whereas DBS made from all unaffected carriers and UCB showed SMN1 amplification above a well-defined threshold. TREC and RPP30 content in all DBS were within the age-adjusted expected range. CONCLUSIONS SMA caused by the absence of SMN1 can be detected from the same DBS punch used to screen newborns for SCID.

Nitrogen, Threat or Benefaction? The Spectre at the Feast

2004 ◽  
Author(s):  
G. J. Leigh
Keyword(s):  
Natural Process ◽  
Energy Crisis ◽  
Limits To Growth ◽  
Current State ◽  
The World ◽  
Club Of Rome ◽  
The 1960S ◽  
The Many ◽  
Potential Food ◽  
Growing Population

The world today is a very different place from what it was in about 1900. It is a very different place from what it was even in the 1960s. This is not to say that the worries and preoccupations of 1900 and the 1960s have just disappeared. Rather, they still remain, but as a consequence of the activities of the Club of Rome and the many similar organisations that have arisen since then, people are much more conscious of them. The famous energy crisis of 1973, provoked by the rapid quadrupling of the price of oil, hardly a natural process, served to push such considerations to the fore. The simple questions that were once posed (such as “How shall we feed a growing population?”) have been joined to many others. Is there a limit to population growth beyond which the potential food supply will really be exceeded? Is there a limit beyond which the perturbation of the environment by human actions will produce changes that will irretrievably damage both people and the environment? Are there really limits to growth? What can we reasonably do that will not produce disaster? This is a far cry from the Victorian and even old-fashioned capitalistic and Soviet attitudes that seemed then and still seem to assume that humans, being at the pinnacle of evolution (or, alternatively, being placed at the pinnacle of animal life by God), were free to exploit Earth and its resources as much as seemed necessary. Even to attempt to answer such questions, it is necessary to understand what the current state of Earth and the environment really are, and this is not simply a matter of looking out of the window and making a snap judgement, or even looking out of several windows over a certain period. It is necessary to do serious research and then attempt to make sound judgements. This is no trivial matter because often there is little objective guidance as to what constitutes a sound judgement. The idea that human activities are upsetting the current equilibrium between people and the environment is based upon a misconception.

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
Sign in / Sign up

Export Citation Format

Share Document