scholarly journals First Universal Newborn Screening Program for Severe Combined Immunodeficiency in Europe. Two-Years' Experience in Catalonia (Spain)

2019 ◽  
Vol 10 ◽  
Author(s):  
Ana Argudo-Ramírez ◽  
Andrea Martín-Nalda ◽  
Jose L. Marín-Soria ◽  
Rosa M. López-Galera ◽  
Sonia Pajares-García ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Screening Program ◽  
Severe Combined Immunodeficiency ◽  
Combined Immunodeficiency ◽  
Newborn Screening Program

scholarly journals A súlyos kombinált immundefektusok újszülöttkori szűrővizsgálata

2018 ◽  
Vol 159 (23) ◽  
pp. 948-956
Author(s):  
Melinda Erdős
Keyword(s):  
Immune Deficiency ◽  
Newborn Screening ◽  
Screening Program ◽  
Severe Combined Immunodeficiency ◽  
The United States ◽  
Combined Immunodeficiency ◽  
Newborn Screening Program ◽  
Negative Family History ◽  
Combined Immunodeficiencies ◽  
Severe Combined Immunodeficiencies

Abstract: Severe combined immunodeficiency is the first immune deficiency disorder which was included in the newborn screening program in the United States in 2010. In Hungary, newborn screening for severe combined immunodeficiencies is crucial because of the routine BCG vaccination, as in the case of an affected newborn with negative family history, the vaccine may lead to fatal BCG-itis. This paper analyzes the possibilities of introducing newborn screening for severe combined immunodeficiencies and summarizes current experiences and results. Orv Hetil. 2018; 159(23): 948–956.

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

2018 ◽  
Vol 4 (4) ◽  
pp. 40 ◽  
Author(s):  
Maartje Blom ◽  
Robbert Bredius ◽  
Gert Weijman ◽  
Eugènie Dekkers ◽  
Evelien Kemper ◽  
...  
Keyword(s):  
Pilot Study ◽  
The Netherlands ◽  
Newborn Screening ◽  
Screening Program ◽  
Severe Combined Immunodeficiency ◽  
Successful Implementation ◽  
Combined Immunodeficiency ◽  
Newborn Screening Program ◽  
Ministry Of Health ◽  
National Implementation

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. A feasibility study was performed in which the practicalities and preconditions of expanding the newborn screening program were defined. Cost-effectiveness analysis (CEA) indicated that SCID screening in the Netherlands might be cost-effective, recognizing that there are still many uncertainties in the variables underlying the CEA. Data and experience of the pilot study should provide better estimates of these parameters, thus enabling the actualization of CEA results. Prior to the implementation pilot study, a comparison study of two commercially available SCID screening assays was performed. A prospective implementation pilot study or so-called SONNET study (SCID screening research in the Netherlands with TRECs) started in April 2018 and allows the screening for SCID of all newborns in three provinces of the Netherlands for one year. Based on the results of the SONNET study, the Dutch Ministry of Health will make a final decision about national implementation of newborn screening for SCID in the Netherlands.

scholarly journals Implementing Routine Testing for Severe Combined Immunodeficiency within Wisconsin's Newborn Screening Program

2010 ◽  
Vol 125 (2_suppl) ◽  
pp. 88-95 ◽  
Author(s):  
Mei Wang Baker ◽  
Ronald H. Laessig ◽  
Murray L. Katcher ◽  
John M. Routes ◽  
William J. Grossman ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Screening Program ◽  
Severe Combined Immunodeficiency ◽  
Combined Immunodeficiency ◽  
Newborn Screening Program ◽  
Routine Testing

scholarly journals Combination of TREC Measurement and Next-Generation Sequencing in Newborn Screening for Severe Combined Immunodeficiency: A Pilot Program in Japan

Blood ◽  
2018 ◽  
Vol 132 (Supplement 1) ◽  
pp. 3717-3717 ◽  
Author(s):  
Hideki Muramatsu ◽  
Daiei Kojima ◽  
Yusuke Okuno ◽  
Shinsuke Kataoka ◽  
Yoko Nakajima ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Copy Number ◽  
Screening Program ◽  
Severe Combined Immunodeficiency ◽  
University Hospital ◽  
Combined Immunodeficiency ◽  
Negative Results ◽  
Beta Actin ◽  
Target Capture ◽  
Generation Sequencing

Abstract INTRODUCTION Severe combined immunodeficiency disease (SCID) is the most severe form of primary immunodeficiency disorders (PIDs). Impaired cellular and humoral immunity renders the affected infants susceptible to various infections and results in death within the first 2 years of life. Affected infants are asymptomatic at birth, untreated disease leads to death, and prompt treatment (i.e., hematopoietic stem cell transplantation, gene therapy, or enzyme replacement therapy) is linked to significant improvement in outcome. Thus, SCID meets the disease criteria for newborn screening (NBS). The T-cell receptor excision circle (TREC) is an excellent marker of recently formed T cells, and quantitative PCR-based measurement of TREC is an excellent tool in population-based NBS for SCID. Recent progress in next-generation sequencing (NGS) has enabled the simultaneous sequencing of numerous nucleic acids, detecting single nucleotide changes as well as copy number variants. We launched a pilot newborn optional screening program for SCID, combining the measurement of TREC and NGS in Japan. PATIENTS AND METHODS We measured TREC copy number using the Enlite™ Neonatal TREC assay (Perkin Elmer, Turku, Finland), which utilizes the duplex amplification of TREC and beta-actin in the same reaction for each specimen. We used TREC negative cutoffs as follows: TREC copy number of <30 copies/μL and beta-actin copy number of ≥50 copies/μL. In patients with TREC negative results, genomic DNA was subjected to DNA capture designed using SureDesign (Agilent, Santa Clara, USA), covering a total of 349 genes associated with PIDs, inherited bone marrow failure syndromes, and the 22q11.2 region. Target capture, enrichment, and indexing were performed according to the manufacturer's instructions. Generated libraries were sequenced using a HiSeq 2500 platform (Illumina, San Diego, USA). This study was approved by the ethical committees of the Nagoya University Graduate School of Medicine and Fujita Health University. RESULTS From April 2017 to March 2018, we screened a total of 22,865 newborns, covering 57% of the total number of births in the Aichi prefecture, Japan. We identified 48 (0.21%) newborns with TREC negative results. These newborns were referred to the Nagoya University Hospital or Fujita Health University Hospital and received thorough immunological examination, including target capture sequencing. Among them, 12 (25%) newborns had background diseases, including Down syndrome (n = 4), gastrointestinal defects (n = 3), congenital diaphragmatic hernia (n = 2), congenital chylothorax (n = 2), and severe congenital heart anomaly (n = 1). Immunological assessment identified 11 (23%) infants with lymphocytopenia (<1500 /μL). These infants avoided live vaccines and received appropriate interventions to prevent infection. Using target sequencing analyses, we identified four patients with PIDs, including 22q11.2 deletion syndrome (n = 2), Wiskott‒Aldrich syndrome (n = 1), and combined immunodeficiency with an unknown causative gene (n = 1). CONCLUSION We successfully launched a pilot newborn optional screening program for SCID, combining the measurement of TREC and NGS in Japan. We did not identify typical SCID patients probably because of the relatively small sample size. However, this newborn screening program, incorporating an NGS assay as a second test, achieved early accurate diagnoses of patients with other PIDs with TREC negative results. Consequently, this program may facilitate patient management and optimize treatment outcomes. Disclosures No relevant conflicts of interest to declare.

scholarly journals Value of Newborn Screening Programs for Severe Combined Immunodeficiency

2021 ◽  
Author(s):  
Elisa Pirozzi
Keyword(s):  
Newborn Screening ◽  
Screening Program ◽  
Severe Combined Immunodeficiency ◽  
Positive Family History ◽  
Cell Receptor ◽  
Screening Tests ◽  
Combined Immunodeficiency ◽  
Medical Progress ◽  
Screening Programs ◽  
Life Threatening

Severe Combined Immunodeficiency Disease (SCID) is life-threatening disease of infancy and childhood characterized by recurrent infections and failure to thrive. Given the modern medical progress made available for treating SCID, early identification of these children is paramount to their wellbeing and overall survival into adulthood. Newborn screening (NBS) programs provide the opportunity to identify SCID patients before life-threatening infections can manifest. The T-cell receptor excision circles (TRECs) assay currently used for SCID screening has been shown to satisfy all parameters of an effective screening test.  Its widespread use is indicated by the time-sensitive nature of the disease, its efficacy in reducing morbidity and mortality in these patients, and the cost-effectiveness of prompt recognition versus long-term management. While immensely beneficial, screening tests still hold limitations that require analyzing. Follow-up measures for SCID identification programs have identified ambiguity and inconsistency among testing algorithms across facilities and technical errors that have causes inaccurate results. Considering fewer than 20% of SCID patients report a positive family history and the lethal consequences of disease if left untreated, a screening program is a highly valuable tool for early diagnosis and prompt intervention.

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