{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,26]],"date-time":"2026-06-26T10:03:30Z","timestamp":1782468210388,"version":"3.54.5"},"reference-count":32,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2024,9,10]],"date-time":"2024-09-10T00:00:00Z","timestamp":1725926400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["2021YFC1005301"],"award-info":[{"award-number":["2021YFC1005301"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100009330","name":"Medical Science and Technology Foundation of Guangdong Province","doi-asserted-by":"publisher","award":["B2024138"],"award-info":[{"award-number":["B2024138"]}],"id":[{"id":"10.13039\/501100009330","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82370122"],"award-info":[{"award-number":["82370122"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2024,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Thalassemia is a Mendelian\u2010inherited blood disorder with severe consequences, including disability and mortality, making it a significant public health concern. Therefore, there is an urgent need for precise diagnostic technologies. We introduce two innovative diagnostic techniques for thalassemia, SNPscan and CNVplex, designed to enhance molecular diagnostics of thalassemia.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The SNPscan and CNVplex assays utilize variations in PCR product length and fluorescence to identify multiple mutations. In the SNPscan method, we designed three probes per locus: two 5\u2032 and one 3\u2032, and incorporated allele identification link sequences into one of the 5\u2032 probes to distinguish the alleles. The detection system was designed for 67 previously reported loci in the Chinese population for a specific genetic condition. CNVplex identifies deletion types by analyzing the specific positions of probes within the globin gene. This innovative approach enables the detection of six distinct deletional mutations, enhancing the precision of thalassemia diagnostics. We evaluated and refined the methodologies in a training cohort of 100 individuals with confirmed HBA and HBB genotypes. The validation cohort, consisting of 1647 thalassemia patients and 100 healthy controls, underwent a double\u2010blind study. Traditional diagnostic techniques served as the control methods.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In the training set of 100 samples, 10 mutations (Hb QS, Hb CS, Hb Westmead, CD17, CD26, CD41\u201042, IVS\u2010II\u2010654, \u2010\u2010<jats:sup>SEA<\/jats:sup>, \u2212\u03b1<jats:sup>3.7<\/jats:sup> and \u2212\u03b1<jats:sup>4.2<\/jats:sup>) were identified, consistent with those identified by traditional methods. The validation study showed that SNPscan\/CNVplex offered superior molecular diagnostic capabilities for thalassemia, with 100% accuracy compared to 99.43% for traditional methods. Notably, the assay identified three previously undetected mutations in 10 cases, including two deletion mutations (Chinese <jats:sup>G<\/jats:sup>\u03b3(<jats:sup>A<\/jats:sup>\u03b3\u03b4\u03b2)<jats:sup>0<\/jats:sup> del and SEA\u2010HPFH), and one non\u2010deletion mutation (Hb Q\u2010Thailand).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The SNPscan\/CNVplex assay is a cost\u2010effective and user\u2010friendly tool for diagnosing thalassemia, demonstrating high accuracy and reliability, and showing great potential as a primary diagnostic method in clinical practice.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.6661","type":"journal-article","created":{"date-parts":[[2024,9,11]],"date-time":"2024-09-11T04:50:00Z","timestamp":1726030200000},"page":"1310-1317","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["SNPscan Combined With CNVplex as a High\u2010Performance Diagnostic Method for Thalassemia"],"prefix":"10.1002","volume":"44","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7278-2767","authenticated-orcid":false,"given":"Xiaofeng","family":"Wei","sequence":"first","affiliation":[{"name":"Department of Medical Genetics School of Basic Medicine Science Southern Medical University  Guangdong China"},{"name":"Experimental Education and Administration Center School of Basic Medical Science Southern Medical University  Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xingmin","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics School of Basic Medicine Science Southern Medical University  Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fu","family":"Xiong","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics School of Basic Medicine Science Southern Medical University  Guangdong China"},{"name":"Experimental Education and Administration Center School of Basic Medical Science Southern Medical University  Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xinhua","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Hematology 923rd Hospital of the People's Liberation Army  Guangxi China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3860-9466","authenticated-orcid":false,"given":"Dun","family":"Liu","sequence":"additional","affiliation":[{"name":"Reproductive Medical Center Guangdong Women and Children Hospital  Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0760-9041","authenticated-orcid":false,"given":"Wanjun","family":"Zhou","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics School of Basic Medicine Science Southern Medical University  Guangdong China"},{"name":"Experimental Education and Administration 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