945cd8b03d9b14bd4297e6c6789ecaa0 pmc_34294672.pdf 46a2bc000386a35d63d8bdea2782ca374c0a28bf pmc_34294672.pdf ae9d6e4ed9442c75c55a6efbd48cc363abecf6d7a431669f5f73383db9802e75 pmc_34294672.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: Wed Jul 21 06:08:32 2021 CEST ModDate: Wed Jul 21 06:10:59 2021 CEST Custom Metadata: no Metadata Stream: no 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. 1.28.0, 2023-05-18) Date: 2024-10-02 03:10:32 CEST RepresentationInformation: pmc_34294672.pdf ReportingModule: PDF-hul, Rel. 1.12.4 (2023-03-16) LastModified: 2023-03-31 12:14:35 CEST 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: section.1 Children: Item: Title: Newborn Screening (NBS) Programs in Spain Destination: subsection.1.1 Item: Title: Newborn Screening for SCID in Spain Destination: subsection.1.2 Item: Title: Newborn Screening in Catalonia Destination: subsection.1.3 Item: Title: Newborn Screening for SCID in Catalonia Destination: subsection.1.4 Item: Title: Materials and Methods Destination: section.2 Children: Item: Title: Population Destination: subsection.2.1 Item: Title: Sample Testing Destination: subsection.2.2 Item: Title: Pilot Study Destination: subsection.2.3 Item: Title: Currently Decision Algorithm for SCID Detection Destination: subsection.2.4 Item: Title: Protocol for SCID Positive Detections Destination: subsection.2.5 Item: Title: Results Destination: section.3 Item: Title: Discussion Destination: section.4 Item: Title: References Destination: section.4 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. Keywords: newborn screening; severe combined immunodeficiency; T-cell receptor excision circles; T-lymphocytes; stem cell transplantation; PNP deficiency; TREC; SCID; NBS Spain; NBS Catalonia Creator: LaTeX with hyperref Producer: pdfTeX-1.40.21 CreationDate: Wed Jul 21 06:08:32 CEST 2021 ModDate: Wed Jul 21 06:10:59 CEST 2021 ID: 0xb75672e3dfcabef8462c264176f4ef04, 0xb75672e3dfcabef8462c264176f4ef04 Filters: FilterPipeline: FlateDecode Fonts: Type1: Font: BaseFont: ARUPZB+URWPalladioL-Bold FontSubset: true FirstChar: 2 LastChar: 150 FontDescriptor: FontName: ARUPZB+URWPalladioL-Bold Flags: Symbolic FontBBox: -152, -301, 1000, 935 FontFile: true EncodingDictionary: Differences: true Font: BaseFont: OVNEXW+EURM10 FontSubset: true FirstChar: 22 LastChar: 22 FontDescriptor: FontName: OVNEXW+EURM10 Flags: Symbolic FontBBox: -32, -243, 1060, 720 FontFile: true Font: BaseFont: CTPLBS+URWPalladioL-Roma FontSubset: true FirstChar: 2 LastChar: 243 FontDescriptor: FontName: CTPLBS+URWPalladioL-Roma Flags: Symbolic FontBBox: -166, -283, 1021, 943 FontFile: true EncodingDictionary: Differences: true Font: BaseFont: HCRKXL+VnURWPalladioL FontSubset: true FirstChar: 129 LastChar: 226 FontDescriptor: FontName: HCRKXL+VnURWPalladioL Flags: Symbolic FontBBox: -166, -283, 1021, 943 FontFile: true EncodingDictionary: Differences: true Font: BaseFont: PRJKGQ+VnURWPalladioL-Bold FontSubset: true FirstChar: 161 LastChar: 226 FontDescriptor: FontName: PRJKGQ+VnURWPalladioL-Bold Flags: Symbolic FontBBox: -152, -301, 1000, 935 FontFile: true EncodingDictionary: Differences: true Font: BaseFont: RAWOYJ+URWPalladioL-Ital FontSubset: true FirstChar: 40 LastChar: 121 FontDescriptor: FontName: RAWOYJ+URWPalladioL-Ital Flags: Symbolic FontBBox: -170, -305, 1010, 941 FontFile: true EncodingDictionary: Differences: true Pages: Page: Sequence: 1 Annotations: Annotation: Subtype: Link Rect: 35, 759, 168, 795 Annotation: Subtype: Link Rect: 515, 759, 560, 795 Annotation: Subtype: Link Rect: 152, 678, 163, 692 Annotation: Subtype: Link Rect: 475, 678, 486, 692 Annotation: Subtype: Link Rect: 476, 666, 487, 679 Annotation: Subtype: Link Rect: 128, 653, 139, 667 Annotation: Subtype: Link Rect: 228, 653, 239, 667 Annotation: Subtype: Link Rect: 333, 653, 344, 667 Annotation: Subtype: Link Rect: 120, 641, 131, 654 Annotation: Subtype: Link Rect: 247, 641, 258, 654 Annotation: Subtype: Link Rect: 368, 641, 379, 654 Annotation: Subtype: Link Rect: 122, 358, 154, 367 Annotation: Subtype: Link Rect: 35, 346, 125, 355 Annotation: Subtype: Link Rect: 35, 162, 97, 184 Annotation: Subtype: Link Rect: 153, 89, 154, 98 Annotation: Subtype: Link Rect: 35, 77, 147, 86 Annotation: Subtype: Link Rect: 334, 95, 341, 104 ActionDest: 245 Annotation: Subtype: Link Rect: 341, 95, 348, 104 ActionDest: 245 Annotation: Subtype: Link Rect: 451, 83, 458, 92 ActionDest: 245 Annotation: Subtype: Link Rect: 152, 17, 285, 28 Annotation: Subtype: Link Rect: 422, 17, 558, 28 Annotation: Subtype: Link Rect: 35, 470, 87, 489 Page: Sequence: 2 Annotations: Annotation: Subtype: Link Rect: 484, 724, 491, 733 ActionDest: 245 Annotation: Subtype: Link Rect: 491, 724, 498, 733 ActionDest: 245 Annotation: Subtype: Link Rect: 421, 686, 428, 695 ActionDest: 245 Annotation: Subtype: Link Rect: 206, 598, 213, 607 ActionDest: 245 Annotation: Subtype: Link Rect: 235, 570, 242, 582 ActionDest: 78 Annotation: Subtype: Link Rect: 506, 510, 513, 519 ActionDest: 245 Annotation: Subtype: Link Rect: 356, 498, 363, 507 ActionDest: 245 Annotation: Subtype: Link Rect: 250, 218, 257, 227 ActionDest: 245 Annotation: Subtype: Link Rect: 549, 218, 556, 227 ActionDest: 245 Annotation: Subtype: Link Rect: 217, 180, 224, 190 ActionDest: 245 Annotation: Subtype: Link Rect: 544, 130, 556, 139 ActionDest: 245 Page: Sequence: 3 Annotations: Annotation: Subtype: Link Rect: 271, 732, 278, 744 ActionDest: 78 Annotation: Subtype: Link Rect: 398, 647, 405, 656 ActionDest: 245 Annotation: Subtype: Link Rect: 311, 192, 318, 201 ActionDest: 245 Annotation: Subtype: Link Rect: 248, 92, 260, 101 ActionDest: 245 Annotation: Subtype: Link Rect: 230, 79, 237, 88 ActionDest: 245 Page: Sequence: 4 Annotations: Annotation: Subtype: Link Rect: 424, 669, 431, 681 ActionDest: 88 Annotation: Subtype: Link Rect: 446, 93, 453, 105 ActionDest: 119 Page: Sequence: 5 Annotations: Annotation: Subtype: Link Rect: 465, 323, 471, 331 ActionDest: 245 Annotation: Subtype: Link Rect: 180, 310, 187, 319 ActionDest: 245 Annotation: Subtype: Link Rect: 447, 297, 454, 306 ActionDest: 245 Annotation: Subtype: Link Rect: 350, 234, 357, 246 ActionDest: 119 Annotation: Subtype: Link Rect: 300, 111, 307, 120 ActionDest: 245 Annotation: Subtype: Link Rect: 401, 70, 408, 82 ActionDest: 165 Page: Sequence: 6 Annotations: Annotation: Subtype: Link Rect: 432, 321, 440, 333 ActionDest: 165 Annotation: Subtype: Link Rect: 541, 298, 553, 307 ActionDest: 245 Page: Sequence: 7 Annotations: Annotation: Subtype: Link Rect: 477, 732, 483, 744 ActionDest: 185 Page: Sequence: 8 Annotations: Annotation: Subtype: Link Rect: 405, 647, 417, 656 ActionDest: 245 Annotation: Subtype: Link Rect: 418, 647, 430, 656 ActionDest: 245 Annotation: Subtype: Link Rect: 433, 647, 445, 656 ActionDest: 245 Annotation: Subtype: Link Rect: 434, 597, 446, 606 ActionDest: 245 Annotation: Subtype: Link Rect: 375, 496, 387, 505 ActionDest: 245 Page: Sequence: 9 Annotations: Annotation: Subtype: Link Rect: 145, 632, 182, 642 Annotation: Subtype: Link Rect: 188, 632, 224, 642 Annotation: Subtype: Link Rect: 488, 608, 524, 619 Annotation: Subtype: Link Rect: 174, 586, 212, 596 Annotation: Subtype: Link Rect: 218, 586, 254, 596 Annotation: Subtype: Link Rect: 59, 552, 97, 562 Annotation: Subtype: Link Rect: 103, 552, 139, 562 Annotation: Subtype: Link Rect: 519, 516, 557, 527 Annotation: Subtype: Link Rect: 59, 506, 95, 516 Annotation: Subtype: Link Rect: 316, 424, 354, 435 Annotation: Subtype: Link Rect: 360, 424, 396, 435 Annotation: Subtype: Link Rect: 225, 390, 262, 401 Annotation: Subtype: Link Rect: 268, 390, 304, 401 Annotation: Subtype: Link Rect: 479, 298, 516, 309 Annotation: Subtype: Link Rect: 521, 298, 557, 309 Annotation: Subtype: Link Rect: 393, 275, 430, 286 Annotation: Subtype: Link Rect: 437, 275, 473, 286 Annotation: Subtype: Link Rect: 113, 241, 151, 251 Annotation: Subtype: Link Rect: 113, 206, 150, 217 Annotation: Subtype: Link Rect: 157, 206, 193, 217 Annotation: Subtype: Link Rect: 398, 183, 436, 194 Annotation: Subtype: Link Rect: 442, 183, 478, 194 Checksum: 37061115 Type: CRC32 Checksum: 945cd8b03d9b14bd4297e6c6789ecaa0 Type: MD5 Checksum: 46a2bc000386a35d63d8bdea2782ca374c0a28bf Type: SHA-1 Checksum: ae9d6e4ed9442c75c55a6efbd48cc363abecf6d7a431669f5f73383db9802e75 Type: SHA-256