{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T14:54:20Z","timestamp":1787064860607,"version":"build-2736575974"},"reference-count":42,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,9,3]],"date-time":"2025-09-03T00:00:00Z","timestamp":1756857600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Med."],"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      The junction fragment after the\n                      <jats:italic>DMD<\/jats:italic>\n                      gene deletion has been identified as a new specific DNA sequence formed by the reconnection of the ends. Our study aims to report a novel method for prenatal diagnosis of BMD by using PCR to detect junction fragments and deleted exons.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We performed the prenatal diagnosis of a fetus with deletional BMD in this study. The proband of this family was the deletion of exons 3 to 5 of the\n                      <jats:italic>DMD<\/jats:italic>\n                      gene. The junction fragment primer designed after locating the breakpoint was used to PCR-amplify the junction fragments of the villus sample and the amniotic fluid genomic DNA. The exon 3 primer was used to amplify the deletion exons of the\n                      <jats:italic>DMD<\/jats:italic>\n                      gene from the villus sample and the amniotic fluid genomic DNA, respectively. At the same time, sex identification was carried out. Finally, the diagnosis results were analyzed.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      The diagnosis of villus sampling was a contradictory result of obtaining the\n                      <jats:italic>DMD<\/jats:italic>\n                      gene deletion junction fragment and the absence of the exon deletion in the male fetus, suggesting that the villus sample was contaminated by maternal cells and the test was unsuccessful. The subsequent diagnosis of amniotic fluid was that the male fetus detected both the junction fragment and the corresponding exon deletion, and was diagnosed as a male fetus with BMD.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Combining PCR to detect junction fragments and deleted exons in the prenatal diagnosis of BMD can effectively identify maternal cell contamination. The results were confirmed to be highly accurate and specific.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fmed.2025.1599498","type":"journal-article","created":{"date-parts":[[2025,9,3]],"date-time":"2025-09-03T05:36:39Z","timestamp":1756877799000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["Combining PCR to detect junction fragments and deleted exons in the prenatal diagnosis of BMD can effectively identify maternal cell contamination"],"prefix":"10.3389","volume":"12","author":[{"given":"Lidan","family":"Cai","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min","family":"Zhong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2025,9,3]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"175675","DOI":"10.1016\/j.ejphar.2023.175675","article-title":"Duchenne muscular dystrophy: current treatment and emerging exon skipping and gene therapy approach","volume":"947","author":"Patterson","year":"2023","journal-title":"Eur J Pharmacol."},{"key":"B2","doi-asserted-by":"publisher","first-page":"365","DOI":"10.1086\/341942","article-title":"Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization","volume":"71","author":"White","year":"2002","journal-title":"Am J Hum Genet."},{"key":"B3","doi-asserted-by":"publisher","first-page":"272","DOI":"10.1007\/s00439-002-0881-5","article-title":"Relevance of sequence and structure elements for deletion events in the dystrophin gene major hot-spot","volume":"112","author":"Sironi","year":"2003","journal-title":"Hum Genet."},{"key":"B4","doi-asserted-by":"publisher","first-page":"138","DOI":"10.3760\/j.issn:1003-9406.2006.02.004","article-title":"Cloning and sequencing of junction fragment with exons 45-54 deletion of dystrophin gene","volume":"23","author":"Zhong","year":"2006","journal-title":"Zhonghua Yi Xue Yi Chuan Xue Za Zhi."},{"key":"B5","doi-asserted-by":"publisher","first-page":"147358","DOI":"10.1016\/j.gene.2023.147358","article-title":"New advancements in CRISPR based gene therapy of Duchenne muscular dystrophy","volume":"867","author":"Eslahi","year":"2023","journal-title":"Gene."},{"key":"B6","doi-asserted-by":"publisher","first-page":"814174","DOI":"10.3389\/fneur.2021.814174","article-title":"Adeno-Associated Virus (AAV)-Mediated Gene Therapy for Duchenne Muscular Dystrophy: the Issue of transgene persistence","volume":"12","author":"Manini","year":"2022","journal-title":"Front Neurol."},{"key":"B7","doi-asserted-by":"publisher","first-page":"201","DOI":"10.1080\/13543784.2024.2313105","article-title":"Duchenne muscular dystrophy: promising early-stage clinical trials to watch","volume":"33","author":"Tang","year":"2024","journal-title":"Expert OpinInvestig Drugs."},{"key":"B8","doi-asserted-by":"publisher","first-page":"1162","DOI":"10.1002\/pd.6201","article-title":"Large scale population screening for Duchenne muscular dystrophy-Predictable and unpredictable challenges","volume":"42","author":"Cohen","year":"2022","journal-title":"PrenatDiagn."},{"key":"B9","doi-asserted-by":"publisher","first-page":"113","DOI":"10.1038\/emm.2003.16","article-title":"novo mutations in sporadic deletional Duchenne muscular dystrophy (DMD) cases","volume":"35","author":"Mukherjee","year":"2003","journal-title":"ExpMol Med."},{"key":"B10","doi-asserted-by":"publisher","first-page":"1111","DOI":"10.1111\/jog.13344","article-title":"Prenatal diagnosis of Duchenne and Becker muscular dystrophies: underestimated problem of the secondary prevention of monogenetic disorders","volume":"43","author":"Massalska","year":"2017","journal-title":"J ObstetGynaecol Res."},{"key":"B11","doi-asserted-by":"publisher","first-page":"275","DOI":"10.1186\/s12920-021-01128-1","article-title":"Noninvasive prenatal diagnosis of duchenne muscular dystrophy in five Chinese families based on relative mutation dosage approach","volume":"14","author":"Zhao","year":"2021","journal-title":"BMC Med Genomics."},{"key":"B12","doi-asserted-by":"publisher","first-page":"45","DOI":"10.1007\/BF00205170","article-title":"Detection of 98% of DMD\/BMD gene deletions by polymerase chain reaction","volume":"86","author":"Beggs","year":"1990","journal-title":"Hum Genet."},{"key":"B13","doi-asserted-by":"publisher","first-page":"599","DOI":"10.1093\/hmg\/1.8.599","article-title":"Two hot spots of recombination in the DMD gene correlate with the deletion prone regions","volume":"1","author":"Oudet","year":"1992","journal-title":"Hum Mol Genet."},{"key":"B14","doi-asserted-by":"publisher","first-page":"129","DOI":"10.1006\/mcpr.1996.0018","article-title":"A quantitative polymerase chain reaction (PCR) assay completely discriminates between Duchenne and Becker muscular dystrophy deletion carriers and normal females","volume":"10","author":"Pastore","year":"1996","journal-title":"Mol Cell Probes."},{"key":"B15","doi-asserted-by":"publisher","first-page":"1291","DOI":"10.1016\/j.clinbiochem.2009.04.016","article-title":"Validation and comparison of two quantitative real-time PCR assays for direct detection of DMD\/BMD carriers","volume":"42","author":"Hayat Nosaeid","year":"2009","journal-title":"ClinBiochem."},{"key":"B16","doi-asserted-by":"publisher","first-page":"195","DOI":"10.1089\/109065703322537205","article-title":"Screening for DMD\/BMD deletion carriers by fluorescence in situ hybridization","volume":"7","author":"Xiao","year":"2003","journal-title":"Genet Test."},{"key":"B17","doi-asserted-by":"publisher","first-page":"221","DOI":"10.1089\/gte.2007.0081","article-title":"Identification of duchenne muscular dystrophy female carriers by fluorescence in situ hybridization and RT-PCR","volume":"12","author":"Vel\u00e1zquez-Wong","year":"2008","journal-title":"Genet Test."},{"key":"B18","doi-asserted-by":"publisher","first-page":"413","DOI":"10.1002\/humu.20035","article-title":"and MAPH: new techniques for detection of gene deletions","volume":"23","author":"Sellner","year":"2004","journal-title":"Hum Mutat."},{"key":"B19","doi-asserted-by":"publisher","first-page":"e57","DOI":"10.1093\/nar\/gnf056","article-title":"Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification","volume":"30","author":"Schouten","year":"2002","journal-title":"Nucleic Acids Res."},{"key":"B20","doi-asserted-by":"publisher","first-page":"3035","DOI":"10.3892\/mmr.2019.9982","article-title":"Clinical and genetic characteristics of female dystrophinopathy carriers","volume":"19","author":"Zhong","year":"2019","journal-title":"Mol Med Rep."},{"key":"B21","doi-asserted-by":"publisher","first-page":"394","DOI":"10.2353\/jmoldx.2007.070017","article-title":"Testing for maternal cell contamination in prenatal samples: a comprehensive survey of current diagnostic practices in 35 molecular diagnostic laboratories","volume":"9","author":"Schrijver","year":"2007","journal-title":"J MolDiagn."},{"key":"B22","doi-asserted-by":"publisher","first-page":"40","DOI":"10.1515\/cclm-2017-0147","article-title":"The SEeMORE strategy: single-tube electrophoresis analysis-based genotyping to detect monogenic diseases rapidly and effectively from conception until birth","volume":"56","author":"Cariati","year":"2017","journal-title":"ClinChem Lab Med."},{"key":"B23","doi-asserted-by":"publisher","first-page":"117","DOI":"10.1007\/978-1-4939-8889-1_8","article-title":"Assessment of Maternal Cell Contamination in Prenatal Samples by Quantitative Fluorescent PCR (QF-PCR)","volume":"1885","author":"Buchovecky","year":"2019","journal-title":"Methods Mol Biol."},{"key":"B24","doi-asserted-by":"publisher","first-page":"11141","DOI":"10.1093\/nar\/16.23.11141","article-title":"Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification","volume":"16","author":"Chamberlain","year":"1988","journal-title":"Nucleic Acids Res."},{"key":"B25","doi-asserted-by":"publisher","first-page":"768","DOI":"10.1086\/301800","article-title":"Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis","volume":"62","author":"Lo","year":"1998","journal-title":"Am J Hum Genet."},{"key":"B26","doi-asserted-by":"publisher","first-page":"353","DOI":"10.1093\/molehr\/gal039","article-title":"PGD for dystrophin gene deletions using fluorescence in situ hybridization","volume":"12","author":"Malmgren","year":"2006","journal-title":"Mol Hum Reprod."},{"key":"B27","doi-asserted-by":"publisher","first-page":"727","DOI":"10.1586\/14737159.8.6.727","article-title":"Prenatal diagnosis: update on invasive versus noninvasive fetal diagnostic testing from maternal blood","volume":"8","author":"Geifman-Holtzman","year":"2008","journal-title":"Expert Rev MolDiagn."},{"key":"B28","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1002\/uog.15806","article-title":"How to safeguard competency and training in invasive prenatal diagnosis: 'the elephant in the room'","volume":"47","author":"Hui","year":"2016","journal-title":"Ultrasound Obstet Gynecol."},{"key":"B29","first-page":"165","article-title":"Review: advances in non-invasive prenatal diagnosis","volume":"27","author":"Vaiopoulos","year":"2013","journal-title":"In Vivo."},{"key":"B30","doi-asserted-by":"publisher","first-page":"90","DOI":"10.1186\/s12884-015-0519-y","article-title":"Prenatal screening of cytogenetic anomalies - a Western Indian experience","volume":"15","author":"Sheth","year":"2015","journal-title":"BMC Pregnancy Childbirth."},{"key":"B31","doi-asserted-by":"publisher","first-page":"425","DOI":"10.1002\/pd.325","article-title":"A simple and effective approach for detecting maternal cell contamination in molecular prenatal diagnosis","volume":"22","author":"Antoniadi","year":"2002","journal-title":"PrenatDiagn."},{"key":"B32","doi-asserted-by":"publisher","first-page":"907","DOI":"10.1038\/sj.ejhg.5201224","article-title":"Strategies for the rapid prenatal diagnosis of chromosome aneuploidy","volume":"12","author":"Mann","year":"2004","journal-title":"Eur J Hum Genet."},{"key":"B33","doi-asserted-by":"publisher","first-page":"126","DOI":"10.1016\/j.patbio.2015.04.002","article-title":"Prenatal diagnosis of cystic fibrosis: 10-years experience","volume":"63","author":"HadjFredj","year":"2015","journal-title":"PatholBiol (Paris)."},{"key":"B34","doi-asserted-by":"publisher","first-page":"150","DOI":"10.1016\/j.trsl.2010.12.005","article-title":"Analysis of cosegregation of intragenic DNA sequence variations as markers of maternal cell contamination in prenatal diagnosis of \u03b2-thalassemia","volume":"157","author":"Saadi","year":"2011","journal-title":"Transl Res."},{"key":"B35","doi-asserted-by":"publisher","first-page":"838","DOI":"10.3390\/jcm3030838","article-title":"26-Year Experience in Chorionic Villus Sampling Prenatal Genetic Diagnosis","volume":"3","author":"Jorge","year":"2014","journal-title":"J Clin Med."},{"key":"B36","first-page":"1","article-title":"Chorionic villus sampling for early prenatal diagnosis at BhumibolAdulyadej Hospital","volume":"91","author":"Rueangchainikhom","year":"2008","journal-title":"J Med Assoc Thai."},{"key":"B37","doi-asserted-by":"publisher","first-page":"251","DOI":"10.1159\/000354584","article-title":"The experience of a Tunisian referral centre in prenatal diagnosis of Xerodermapigmentosum","volume":"16","author":"Messaoud","year":"2013","journal-title":"Public Health Genomics."},{"key":"B38","doi-asserted-by":"publisher","first-page":"e384","DOI":"10.1111\/hae.12517","article-title":"Prenatal diagnosis in haemophilia A: experience of the genetic diagnostic laboratory","volume":"20","author":"Kessler","year":"2014","journal-title":"Haemophilia."},{"key":"B39","doi-asserted-by":"publisher","first-page":"28","DOI":"10.1016\/j.cca.2020.03.018","article-title":"Molecular diagnosis of dystrophinopathies in Morocco and report of six novel mutations","volume":"506","author":"El Kadiri","year":"2020","journal-title":"Clin Chim Acta."},{"key":"B40","doi-asserted-by":"publisher","first-page":"145","DOI":"10.1016\/j.bbrc.2005.11.006","article-title":"Multiplex real-time PCR for detection of deletions and duplications in dystrophin gene","volume":"339","author":"Traverso","year":"2006","journal-title":"BiochemBiophys Res Commun."},{"key":"B41","doi-asserted-by":"publisher","first-page":"535","DOI":"10.1007\/s00439-013-1393-1","article-title":"Comparative-high resolution melting: a novel method of simultaneous screening for small mutations and copy number variations","volume":"133","author":"Borun","year":"2014","journal-title":"Hum Genet."},{"key":"B42","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.vhri.2017.10.003","article-title":"Cost-Effectiveness Analysis of Diagnosis of Duchenne\/Becker Muscular Dystrophy in Colombia","volume":"17","author":"Atehort\u00faa","year":"2018","journal-title":"Value Health Reg Issues."}],"container-title":["Frontiers in Medicine"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fmed.2025.1599498\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,3]],"date-time":"2025-09-03T05:36:40Z","timestamp":1756877800000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fmed.2025.1599498\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9,3]]},"references-count":42,"alternative-id":["10.3389\/fmed.2025.1599498"],"URL":"https:\/\/doi.org\/10.3389\/fmed.2025.1599498","relation":{},"ISSN":["2296-858X"],"issn-type":[{"value":"2296-858X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,9,3]]},"article-number":"1599498"}}