{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T23:08:23Z","timestamp":1780441703398,"version":"3.54.1"},"reference-count":15,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2023,3,7]],"date-time":"2023-03-07T00:00:00Z","timestamp":1678147200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100007219","name":"Natural Science Foundation of Shanghai","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007219","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2023,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Recessive dystrophic epidermolysis bullosa (RDEB) is a rare and severe hereditary skin disease, caused by mutations in the <jats:italic>COL7A1<\/jats:italic>. However, whether non\u2010invasive prenatal testing (NIPT) can be used for this monogenic genodermatosis remains unknown. Accordingly, we conducted a study in which one couple at high risk of having a fetus with RDEB were recruited and tested by haplotyping\u2010based NIPT. Next\u2010generation sequencing\u2010based multi\u2010gene panel testing was carried out in this couple and their first child as proband who was affected with RDEB. We deduced parental haplotypes via single nucleotide polymorphism (SNP)\u2010based haplotype linkage analysis. Then the maternal plasma cell\u2010free DNA was also sequenced to determine the fetal haplotypes using a parental haplotype\u2010assisted hidden Markov model (HMM) analysis. Results show that the fetus was only a heterozygous mutation carrier in <jats:italic>COL7A1<\/jats:italic> and the identical results were obtained after birth. These results demonstrate that haplotyping\u2010based NIPT is a feasible method for NIPT of RDEB.<\/jats:p>","DOI":"10.1111\/1346-8138.16760","type":"journal-article","created":{"date-parts":[[2023,3,7]],"date-time":"2023-03-07T09:12:43Z","timestamp":1678180363000},"page":"946-950","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Haplotype\u2010based non\u2010invasive prenatal diagnosis of recessive dystrophic epidermolysis bullosa via targeted capture sequencing of maternal plasma"],"prefix":"10.1111","volume":"50","author":[{"given":"Jianbo","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Dermatology Henan Provincial People's Hospital, Zhengzhou University People's Hospital, Henan University People's Hospital  Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pengfei","family":"Gao","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Genetic Engineering and MOE Engineering Research Center of Gene Technology, School of Life Sciences Fudan University  Shanghai China"},{"name":"Shanghai We Health Biomedical Technology Co., Ltd.  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiaoyu","family":"Cao","sequence":"additional","affiliation":[{"name":"Department of Dermatology Children's Hospital of Fudan University, National Children's Medical Center  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fuying","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Dermatology Children's Hospital of Fudan University, National Children's Medical Center  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jinghui","family":"Song","sequence":"additional","affiliation":[{"name":"Department of Dermatology Henan Provincial People's Hospital, Zhengzhou University People's Hospital, Henan University People's Hospital  Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chen","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Dermatology Henan Provincial People's Hospital, Zhengzhou University People's Hospital, Henan University People's Hospital  Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jinfa","family":"Dou","sequence":"additional","affiliation":[{"name":"Department of Dermatology Henan Provincial People's Hospital, Zhengzhou University People's Hospital, Henan University People's Hospital  Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yiming","family":"Wu","sequence":"additional","affiliation":[{"name":"Shanghai We Health Biomedical Technology Co., Ltd.  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiaona","family":"Niu","sequence":"additional","affiliation":[{"name":"Shanghai We Health Biomedical Technology Co., Ltd.  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianguo","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Dermatology Henan Provincial People's Hospital, Zhengzhou University People's Hospital, Henan University People's Hospital  Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ming","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Dermatology Children's Hospital of Fudan University, National Children's Medical Center  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daru","family":"Lu","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Genetic Engineering and MOE Engineering Research Center of Gene Technology, School of Life Sciences Fudan University  Shanghai China"},{"name":"NHC Key Birth Defects and Reproductive Health, Chongqing Key Laboratory of Birth Defects and Reproductive Health, Chongqing Population and Family Planning Science and Technology Research Institute  Chongqing China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,3,7]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.12688\/f1000research.8380.1"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ccr3.1898"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI34292"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41572-020-0210-0"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1528"},{"key":"e_1_2_7_7_1","first-page":"1675","article-title":"Outcome of 1,355 consecutive transabdominal chorionic villus samplings in 1,351 patients","volume":"118","author":"Lau KT","year":"2005","journal-title":"Chin Med J"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(97)02174-0"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0131402"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2016.268375"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-017-06828-2"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1080\/16078454.2022.2045052"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/1471-0528.16295"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.3892\/br.2021.1458"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4781"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2016.195"}],"container-title":["The Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/1346-8138.16760","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/1346-8138.16760","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/1346-8138.16760","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,19]],"date-time":"2023-08-19T17:24:58Z","timestamp":1692465898000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/1346-8138.16760"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,3,7]]},"references-count":15,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2023,7]]}},"alternative-id":["10.1111\/1346-8138.16760"],"URL":"https:\/\/doi.org\/10.1111\/1346-8138.16760","archive":["Portico"],"relation":{},"ISSN":["0385-2407","1346-8138"],"issn-type":[{"value":"0385-2407","type":"print"},{"value":"1346-8138","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,3,7]]},"assertion":[{"value":"2023-01-31","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-02-13","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-03-07","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}