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There is no effective clinical treatment method at present. Accurate gene diagnosis and prenatal diagnosis technology are important ways for early detection, early prevention and early treatment.\n<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>A total of 931 prenatal diagnoses were performed for pregnant women with a definite family history of DMD or a history of DMD childbirth between 2005 and 2019. This report may be considered the largest <jats:italic>DMD<\/jats:italic> prenatal diagnosis report in a single centre worldwide. Multiple ligation-dependent probe amplification (MLPA) and next-generation sequencing were used in combination. Techniques and short tandem repeat (STR) linkage analysis were used to determine the location of the DMD gene mutation in the pregnant woman and then to detect the <jats:italic>DMD<\/jats:italic> gene in the foetuses.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>There were 872 families in our study. Among all 931 foetuses, 20.73% (193\/931) were males expected to develop DMD and 16.33% (152\/931) were female carriers. In addition, gonadal mosaicism was observed in 5 mothers, and gene recombination was identified in three foetuses. The results of the prenatal diagnosis were consistent with the results of the CPK analysis, and the results of the prenatal diagnosis were 100% accurate.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>MLPA and Sanger sequencing, when combined with STR linkage analyses, can provide an accurate and rapid prenatal diagnosis. Due to the high de novo rate, prenatal diagnosis and genetic counselling should be given great attention.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12920-021-01024-8","type":"journal-article","created":{"date-parts":[[2021,7,8]],"date-time":"2021-07-08T19:02:43Z","timestamp":1625770963000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["DMD\/BMD prenatal diagnosis and treatment expectation in a single centre in China for 15\u00a0years"],"prefix":"10.1186","volume":"14","author":[{"given":"Xingjian","family":"Zhong","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siying","family":"Cui","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lina","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuxia","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0030-7638","authenticated-orcid":false,"given":"Xiangdong","family":"Kong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,7,8]]},"reference":[{"key":"1024_CR1","doi-asserted-by":"publisher","first-page":"482","DOI":"10.1016\/j.nmd.2014.03.008","volume":"24","author":"JK Mah","year":"2014","unstructured":"Mah JK, Korngut L, Dykeman J, et al. 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All patients have signed informed consent. For individuals under 16\u00a0years of age, we have signed an informed consent form with their parents or legal guardians.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"We have informed consent for publication was obtained in written, including the consent for publication of their identifying images or other personal or clinical details from all of the participants. In the case of minors, which refers to individuals younger than the age of 18, we have obtained the written informed of identifying images or other personal or clinical details of the consent for publication from their parents or legal guardians.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"181"}}