{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T21:17:39Z","timestamp":1790457459372,"version":"4.1.0"},"reference-count":15,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2021,6,9]],"date-time":"2021-06-09T00:00:00Z","timestamp":1623196800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100012166","name":"National Basic Research Program of China","doi-asserted-by":"publisher","award":["2017YFC1001802 2018YFC1002201"],"award-info":[{"award-number":["2017YFC1001802 2018YFC1002201"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81771599 81974240 81970829"],"award-info":[{"award-number":["81771599 81974240 81970829"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2021,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Skeletal dysplasias (SDs) are common birth defects, but they are difficult to diagnose accurately according to only the limited phenotypic information available from ultrasound during the pregnancy. To evaluate the application of whole\u2010exome sequencing (WES) and expand the data in the prenatal molecular diagnosis of fetuses with SDs, we collected 55 fetuses with SDs based on ultrasonographic features. WES of the fetuses or parent\u2010fetus trio were subjected to sequential tests and produced a diagnostic yield of 64% (35\/55). 65% (11\/17) of families with a history of adverse pregnancies were diagnosed, 16 genes were involved and 37 different pathogenic or likely pathogenic variants were identified, including 14 novel variants, which were first reported in this study. De novo variants were identified in 21 cases (60%, 21\/35) among the fetuses with a genetic diagnosis. The pathogenicity of two novel splice\u2010site variants was confirmed by constructing minigene in vitro. Our results revealed that WES can provide new evidence for the relationship between the genotype and phenotype of fetuses with SDs, as well as broaden the mutation spectrum of detected genes, which is significant for prenatal diagnosis and genetic counseling.<\/jats:p>","DOI":"10.1111\/cge.13976","type":"journal-article","created":{"date-parts":[[2021,5,4]],"date-time":"2021-05-04T04:29:46Z","timestamp":1620102586000},"page":"219-226","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":26,"title":["Molecular diagnosis for 55 fetuses with skeletal dysplasias by whole\u2010exome sequencing: A retrospective cohort study"],"prefix":"10.1111","volume":"100","author":[{"given":"Li","family":"Zhang","sequence":"first","affiliation":[{"name":"Center for Medical Genetics &amp; Hunan Key Laboratory of Medical Genetics School of life sciences, Central South University  Changsha Hunan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lijuan","family":"Pan","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics &amp; Hunan Key Laboratory of Medical Genetics School of life sciences, Central South University  Changsha Hunan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanling","family":"Teng","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics &amp; Hunan Key Laboratory of Medical Genetics School of life sciences, Central South University  Changsha Hunan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Desheng","family":"Liang","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics &amp; Hunan Key Laboratory of Medical Genetics School of life sciences, Central South University  Changsha Hunan China"},{"name":"Hunan Jiahui Genetics Hospital  Changsha Hunan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhuo","family":"Li","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics &amp; Hunan Key Laboratory of Medical Genetics School of life sciences, Central South University  Changsha Hunan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7070-5896","authenticated-orcid":false,"given":"Lingqian","family":"Wu","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics &amp; Hunan Key Laboratory of Medical Genetics School of life sciences, Central South University  Changsha Hunan China"},{"name":"Hunan Jiahui Genetics Hospital  Changsha Hunan China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,6,9]]},"reference":[{"issue":"6","key":"e_1_2_10_2_1","first-page":"489","article-title":"Advances in evaluating the fetal skeleton","volume":"13","author":"Noel AE","year":"2014","journal-title":"Int J Womens Health"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61366"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00247-016-3725-5"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcu.22371"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5298"},{"key":"e_1_2_10_7_1","first-page":"2492590","article-title":"Genetic analysis in fetal skeletal dysplasias by trio whole\u2010exome sequencing","volume":"2","author":"Yang K","year":"2019","journal-title":"Biomed Res Int"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2020.04.031"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2018.30"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5653"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1080\/14767058.2020.1802715"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(18)31940-8"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(18)32042-7"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e318202e0f6"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.08.010"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-018-0044-2"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13976","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.13976","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13976","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,29]],"date-time":"2023-08-29T16:57:43Z","timestamp":1693328263000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.13976"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,6,9]]},"references-count":15,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2021,8]]}},"alternative-id":["10.1111\/cge.13976"],"URL":"https:\/\/doi.org\/10.1111\/cge.13976","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,6,9]]},"assertion":[{"value":"2021-03-01","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-04-29","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-06-09","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}