{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:51:28Z","timestamp":1786978288454,"version":"build-2736575974"},"reference-count":22,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2020,6,4]],"date-time":"2020-06-04T00:00:00Z","timestamp":1591228800000},"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":["(2018YFC1004104)"],"award-info":[{"award-number":["(2018YFC1004104)"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["2018YFC1004104"],"award-info":[{"award-number":["2018YFC1004104"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004000","name":"Guangzhou Science and Technology Program key projects","doi-asserted-by":"publisher","award":["201604020091"],"award-info":[{"award-number":["201604020091"]}],"id":[{"id":"10.13039\/501100004000","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004000","name":"Guangzhou Science and Technology Program key projects","doi-asserted-by":"publisher","award":["201604020078"],"award-info":[{"award-number":["201604020078"]}],"id":[{"id":"10.13039\/501100004000","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004000","name":"Guangzhou Science and Technology Program key projects","doi-asserted-by":"publisher","award":["201504282321393"],"award-info":[{"award-number":["201504282321393"]}],"id":[{"id":"10.13039\/501100004000","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004000","name":"Guangzhou Science and Technology Program key projects","doi-asserted-by":"publisher","award":["2014 Y2\u201000551"],"award-info":[{"award-number":["2014 Y2\u201000551"]}],"id":[{"id":"10.13039\/501100004000","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81671470"],"award-info":[{"award-number":["81671470"]}],"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":[[2020,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>We aimed to investigate the validity of noninvasive prenatal diagnosis (NIPD) based on direct haplotype phasing without the proband or other family members and its feasibility for clinical application in the case of Duchenne muscular dystrophy (DMD).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Thirteen singleton\u2010pregnancy families affected by DMD were recruited. The pathogenic variants in the pregnant females have been identified by multiplex ligation\u2010dependent probe amplification (MLPA). We resolved maternal haplotypes for each family by performing targeted linked\u2010read sequencing of their high molecular weight DNA, respectively. Then, we integrated the maternal haplotypes and the targeted sequencing results of maternal plasma DNA to infer the fetal haplotype and the\n                      <jats:italic>DMD<\/jats:italic>\n                      gene variant status. The fetal genotypes were further validated by using chorionic villus sampling.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>The method of directly resolving maternal haplotype through targeted linked\u2010read sequencing was smoothly performed in 12 participated families, but one failed (F11). The predicted variant status of 12 fetuses was correct, which had been confirmed by invasive prenatal diagnosis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Direct haplotyping of NIPD based on linked\u2010read sequencing for DMD is accurate.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/pd.5641","type":"journal-article","created":{"date-parts":[[2020,1,9]],"date-time":"2020-01-09T07:32:36Z","timestamp":1578555156000},"page":"918-924","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Noninvasive prenatal diagnosis for Duchenne muscular dystrophy based on the direct haplotype phasing"],"prefix":"10.1002","volume":"40","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6906-872X","authenticated-orcid":false,"given":"Min","family":"Chen","sequence":"first","affiliation":[{"name":"Department of Fetal Medicine and Prenatal Diagnosis The Third Affiliated Hospital of Guangzhou Medical University  Guangzhou China"},{"name":"Obstetrics and Gynecology Institute of Guangzhou  Guangzhou China"},{"name":"The Medical Centre for Critical Pregnant Women in Guangzhou  Guangzhou China"},{"name":"Key Laboratory for Major Obstetric Diseases of Guangdong Province  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chao","family":"Chen","sequence":"additional","affiliation":[{"name":"Tianjin Medical Laboratory BGI\u2010Tianjin, BGI\u2010Shenzhen  Tianjin China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoyan","family":"Huang","sequence":"additional","affiliation":[{"name":"BGI Genomics BGI\u2010Shenzhen  Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Sun","sequence":"additional","affiliation":[{"name":"Tianjin Medical Laboratory BGI\u2010Tianjin, BGI\u2010Shenzhen  Tianjin China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lu","family":"Jiang","sequence":"additional","affiliation":[{"name":"Tianjin Medical Laboratory BGI\u2010Tianjin, BGI\u2010Shenzhen  Tianjin China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yingting","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Fetal Medicine and Prenatal Diagnosis The Third Affiliated Hospital of Guangzhou Medical University  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yaping","family":"Zhu","sequence":"additional","affiliation":[{"name":"Tianjin Medical Laboratory BGI\u2010Tianjin, BGI\u2010Shenzhen  Tianjin China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Changgeng","family":"Tian","sequence":"additional","affiliation":[{"name":"BGI Genomics BGI\u2010Shenzhen  Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yufan","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Fetal Medicine and Prenatal Diagnosis The Third Affiliated Hospital of Guangzhou Medical University  Guangzhou China"},{"name":"Obstetrics and Gynecology Institute of Guangzhou  Guangzhou China"},{"name":"The Medical Centre for Critical Pregnant Women in Guangzhou  Guangzhou China"},{"name":"Key Laboratory for Major Obstetric Diseases of Guangdong Province  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhe","family":"Lu","sequence":"additional","affiliation":[{"name":"Tianjin Medical Laboratory BGI\u2010Tianjin, BGI\u2010Shenzhen  Tianjin China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2034-3855","authenticated-orcid":false,"given":"Yaoshen","family":"Wang","sequence":"additional","affiliation":[{"name":"Tianjin Medical Laboratory BGI\u2010Tianjin, BGI\u2010Shenzhen  Tianjin China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fanwei","family":"Zeng","sequence":"additional","affiliation":[{"name":"BGI Genomics BGI\u2010Shenzhen  Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yun","family":"Yang","sequence":"additional","affiliation":[{"name":"Wuhan BGI Clinical Laboratory Co., Ltd BGI\u2010Wuhan, BGI\u2010Shenzhen  Wuhan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiwei","family":"Song","sequence":"additional","affiliation":[{"name":"BGI Genomics BGI\u2010Shenzhen  Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhiyu","family":"Peng","sequence":"additional","affiliation":[{"name":"BGI Genomics BGI\u2010Shenzhen  Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chenghong","family":"Yin","sequence":"additional","affiliation":[{"name":"Beijing Obstetrics and Gynecology Hospital Capital Medical University  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dunjin","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Fetal Medicine and Prenatal Diagnosis The Third Affiliated Hospital of Guangzhou Medical University  Guangzhou China"},{"name":"Obstetrics and Gynecology Institute of Guangzhou  Guangzhou China"},{"name":"The Medical Centre for Critical Pregnant Women in Guangzhou  Guangzhou China"},{"name":"Key Laboratory for Major Obstetric Diseases of Guangdong Province  Guangzhou China"},{"name":"Key Laboratory for Reproduction and Genetics of Guangdong Higher Education Institutes  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,6,4]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90344-5"},{"issue":"40","key":"e_1_2_10_3_1","first-page":"1119","article-title":"Prevalence of 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