{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T23:05:27Z","timestamp":1781651127885,"version":"3.54.5"},"reference-count":21,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2019,10,30]],"date-time":"2019-10-30T00:00:00Z","timestamp":1572393600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2019,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>The current scenario of newborn screening is changing as DNA studies are being included in the programs of several countries. Severe combined immunodeficiency (SCID) disorders can be detected using quantitative PCR assays to measure T\u2010cell receptor excision circles (TRECs), a byproduct of correct T\u2010cell development. However, in addition to SCID, other T\u2010cell\u2010deficient phenotypes such as 22q11.2 deletion syndrome 22q11.2 duplication syndrome, CHARGE syndrome, and trisomy 21 are detected.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We present our experience with the detection of 22q11.2 deletion syndrome and 22q11.2 duplication syndrome in a series of 103,903 newborns included in the newborn screening program of Catalonia (Spain).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Thirty newborns tested were positive (low TREC levels) and five were found to have copy number variations at the 22q11 region (4 deletions and 1 duplication) when investigated with array comparative genomic hybridization technology and MLPA.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Newborn screening for SCID enables detection of several conditions, such as 22q syndromes, which should be managed by prompt, proactive approaches with adequate counseling for families by a multidisciplinary team.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1016","type":"journal-article","created":{"date-parts":[[2019,10,30]],"date-time":"2019-10-30T11:39:56Z","timestamp":1572435596000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years\u2019 experience in Catalonia (Spain)"],"prefix":"10.1002","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3590-0186","authenticated-orcid":false,"given":"Andrea","family":"Martin\u2010Nalda","sequence":"first","affiliation":[{"name":"Pediatric Infectious Diseases and Immunodeficiencies Unit Department of Pediatrics Vall d\u2019Hebron Campus Hospitalari Barcelona Catalonia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna M.","family":"Cueto\u2010Gonz\u00e1lez","sequence":"additional","affiliation":[{"name":"Department of Clinical and Molecular Genetics Vall d\u2019Hebron Campus Hospitalari Barcelona Catalonia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Argudo\u2010Ram\u00edrez","sequence":"additional","affiliation":[{"name":"Newborn screening laboratory Section of Congenital Errors of Metabolism, Biochemistry and Molecular Genetics Department Hospital Clinic Barcelona Catalonia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jose L.","family":"Marin\u2010Soria","sequence":"additional","affiliation":[{"name":"Newborn screening laboratory Section of Congenital Errors of Metabolism, Biochemistry and Molecular Genetics Department Hospital Clinic Barcelona Catalonia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica","family":"Martinez\u2010Gallo","sequence":"additional","affiliation":[{"name":"Immunology Division Vall d\u2019Hebron Campus Hospitalari Barcelona Catalonia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roger","family":"Colobran","sequence":"additional","affiliation":[{"name":"Department of Clinical and Molecular Genetics Vall d\u2019Hebron Campus Hospitalari Barcelona Catalonia Spain"},{"name":"Immunology Division Vall d\u2019Hebron Campus Hospitalari Barcelona Catalonia 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