20cf2c55d74885f3782d1c1c2cd498d6 248846.pdf bb669df4bdb4e3f24c5bbc382aac15f30cb47625 248846.pdf 12b70ab920afcdb08ab84079bf9d590adc99cd7acdf3f098ba5fa270511fff64 248846.pdf Title: Newborn Screening for SCID: Experience in Spain (Catalonia) Subject: Newborn screening (NBS) for severe combined immunodeficiency (SCID) started in Catalonia in January-2017, being the first Spanish and European region to universally include this testing. In Spain, a pilot study with 5000 samples was carried out in Seville in 2014; also, a research project with about 35,000 newborns will be carried out in 2021–2022 in the NBS laboratory of Eastern Andalusia. At present, the inclusion of SCID is being evaluated in Spain. The results obtained in the first three and a half years of experience in Catalonia are presented here. All babies born between January-2017 and June-2020 were screened through TREC-quantification in DBS with the Enlite Neonatal TREC-kit from PerkinElmer. A total of 222,857 newborns were screened, of which 48 tested positive. During the study period, three patients were diagnosed with SCID: an incidence of 1 in 74,187 newborns; 17 patients had clinically significant T-cell lymphopenia (non-SCID) with an incidence of 1 in 13,109 newborns who also benefited from the NBS program. The results obtained provide further evidence of the benefits of early diagnosis and curative treatment to justify the inclusion of this disease in NBS programs. A national NBS program is needed, also to define the exact SCID incidence in Spain. Keywords: newborn screening; severe combined immunodeficiency; T-cell receptor excision circles; T-lymphocytes; stem cell transplantation; PNP deficiency; TREC; SCID; NBS Spain; NBS Catalonia Author: Ana Argudo-Ramírez, Andrea Martín-Nalda, Jose Manuel González de Aledo-Castillo, Rosa López-Galera, Jose Luis Marín-Soria, Sonia Pajares-García, Mónica Martínez-Gallo, Marina García-Prat, Roger Colobran, Jacques G. Riviere, Yania Quintero, Tatiana Collado, Antonia Ribes, Judit García-Villoria and Pere Soler-Palacín Creator: LaTeX with hyperref Producer: pdfTeX-1.40.21 CreationDate: Thu Aug 26 03:15:54 2021 CEST ModDate: Thu Aug 26 03:18:40 2021 CEST Tagged: no UserProperties: no Suspects: no Form: none JavaScript: no Pages: 9 Encrypted: no Page size: 595.276 x 841.89 pts (A4) Page rot: 0 File size: 1254011 bytes Optimized: no PDF version: 1.7 name type encoding emb sub uni object ID ------------------------------------ ----------------- ---------------- --- --- --- --------- HCRKXL+VnURWPalladioL Type 1 Custom yes yes no 10 0 RAWOYJ+URWPalladioL-Ital Type 1 Custom yes yes no 15 0 ARUPZB+URWPalladioL-Bold Type 1 Custom yes yes no 20 0 CTPLBS+URWPalladioL-Roma Type 1 Custom yes yes no 24 0 PRJKGQ+VnURWPalladioL-Bold Type 1 Custom yes yes no 28 0 HVVJIA+TimesNewRomanPS-BoldItalicMT Type 1C WinAnsi yes yes no 36 0 IRWHZX+TimesNewRomanPSMT Type 1C WinAnsi yes yes no 39 0 MCBCCI+SourceSansRoman-Regular Type 1C Custom yes yes no 61 0 MCBCCM+SourceSansRoman.613wght Type 1C Custom yes yes no 65 0 MCBCCO+SourceSansRoman-Bold Type 1C Custom yes yes no 69 0 OVNEXW+EURM10 Type 1 Builtin yes yes no 84 0 LLJOAA+PalatinoLinotype,Bold TrueType WinAnsi yes yes no 98 0 LLJOAC+PalatinoLinotype TrueType WinAnsi yes yes no 101 0 LLJOAE+PalatinoLinotype,Italic TrueType WinAnsi yes yes no 104 0 LLJPGO+TimesNewRoman CID TrueType Identity-H yes yes yes 107 0 LLJPGP+TimesNewRoman,Bold CID TrueType Identity-H yes yes yes 113 0 LLJPMN+Arial,Bold CID TrueType Identity-H yes yes yes 129 0 LLKAFM+TimesNewRoman,Italic TrueType WinAnsi yes yes no 135 0 LLJOAA+PalatinoLinotype,Bold TrueType WinAnsi yes yes no 138 0 LLJOAC+PalatinoLinotype TrueType WinAnsi yes yes no 141 0 LLJOAE+PalatinoLinotype,Italic TrueType WinAnsi yes yes no 144 0 LLJOGD+Arial CID TrueType Identity-H yes yes yes 147 0 LLJPGO+TimesNewRoman CID TrueType Identity-H yes yes yes 153 0 LLJPGP+TimesNewRoman,Bold CID TrueType Identity-H yes yes yes 159 0 LLJOAA+PalatinoLinotype,Bold TrueType WinAnsi yes yes no 175 0 LLJOAC+PalatinoLinotype TrueType WinAnsi yes yes no 178 0 LLJOAE+PalatinoLinotype,Italic TrueType WinAnsi yes yes no 181 0 LLJOAA+PalatinoLinotype,Bold TrueType WinAnsi yes yes no 195 0 LLJOAC+PalatinoLinotype TrueType WinAnsi yes yes no 198 0 LLJOAE+PalatinoLinotype,Italic TrueType WinAnsi yes yes no 201 0 LLJPGO+TimesNewRoman CID TrueType Identity-H yes yes yes 204 0 LLJPGP+TimesNewRoman,Bold CID TrueType Identity-H yes yes yes 210 0 Jhove (Rel. 1.22.1, 2019-04-17) Date: 2022-03-25 02:28:26 CET RepresentationInformation: 248846.pdf ReportingModule: PDF-hul, Rel. 1.12.1 (2019-04-17) LastModified: 2022-03-24 13:32:41 CET Size: 1254011 Format: PDF Version: 1.7 Status: Well-Formed and valid SignatureMatches: PDF-hul MIMEtype: application/pdf PDFMetadata: Objects: 340 FreeObjects: 1 IncrementalUpdates: 0 DocumentCatalog: PageLayout: SinglePage PageMode: UseNone Outlines: Item: Title: Introduction Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@7b69c6ba Children: Item: Title: Newborn Screening (NBS) Programs in Spain Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@46daef40 Item: Title: Newborn Screening for SCID in Spain Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@12f41634 Item: Title: Newborn Screening in Catalonia Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@13c27452 Item: Title: Newborn Screening for SCID in Catalonia Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@262b2c86 Item: Title: Materials and Methods Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@371a67ec Children: Item: Title: Population Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@5ed828d Item: Title: Sample Testing Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@50d0686 Item: Title: Pilot Study Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@7a3d45bd Item: Title: Currently Decision Algorithm for SCID Detection Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@1e7c7811 Item: Title: Protocol for SCID Positive Detections Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@77ec78b9 Item: Title: Results Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@1a3869f4 Item: Title: Discussion Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@a38d7a3 Item: Title: References Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@77f99a05 Info: Title: Newborn Screening for SCID: Experience in Spain (Catalonia) Author: Ana Argudo-Ramírez, Andrea Martín-Nalda, Jose Manuel González de Aledo-Castillo, Rosa López-Galera, Jose Luis Marín-Soria, Sonia Pajares-García, Mónica Martínez-Gallo, Marina García-Prat, Roger Colobran, Jacques G. Riviere, Yania Quintero, Tatiana Collado, Antonia Ribes, Judit García-Villoria and Pere Soler-Palacín Subject: Newborn screening (NBS) for severe combined immunodeficiency (SCID) started in Catalonia in January-2017, being the first Spanish and European region to universally include this testing. In Spain, a pilot study with 5000 samples was carried out in Seville in 2014; also, a research project with about 35,000 newborns will be carried out in 2021 2022 in the NBS laboratory of Eastern Andalusia. At present, the inclusion of SCID is being evaluated in Spain. The results obtained in the first three and a half years of experience in Catalonia are presented here. All babies born between January-2017 and June-2020 were screened through TREC-quantification in DBS with the Enlite Neonatal TREC-kit from PerkinElmer. A total of 222,857 newborns were screened, of which 48 tested positive. During the study period, three patients were diagnosed with SCID: an incidence of 1 in 74,187 newborns; 17 patients had clinically significant T-cell lymphopenia (non-SCID) with an incidence of 1 in 13,109 newborns who also benefited from the NBS program. The results obtained provide further evidence of the benefits of early diagnosis and curative treatment to justify the inclusion of this disease in NBS programs. A national NBS program is needed, also to define the exact SCID incidence in Spain. 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