{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,13]],"date-time":"2026-01-13T01:42:15Z","timestamp":1768268535934,"version":"3.49.0"},"reference-count":48,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,1,20]],"date-time":"2025-01-20T00:00:00Z","timestamp":1737331200000},"content-version":"vor","delay-in-days":19,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100005090","name":"Beijing Nova Program","doi-asserted-by":"publisher","award":["no. 20220484231"],"award-info":[{"award-number":["no. 20220484231"]}],"id":[{"id":"10.13039\/501100005090","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Skeletal dysplasia (SD) represents a series of highly heterogeneous congenital genetic diseases affecting the human skeletal system. Refined genetic diagnosis is helpful for the accurate diagnosis and prognosis evaluation of SDs.<\/jats:p><\/jats:sec><jats:sec><jats:title>Materials and Methods<\/jats:title><jats:p>In this study, we recruited 26 cases of SD and analyzed them with a designed sequential genetic detection. Chromosome karyotyping, microarray analysis (CMA), and whole exome sequencing (WES) techniques are performed as needed. Sanger sequencing and fluorescent quantitative PCR (QF\u2010PCR) were used as validation methods.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A total of 16 cases (61.5%, 16\/26) received positive results at various levels of testing, including one trisomy 18, four copy number variations (CNVs), and 11 sequence variations. Additionally, four novel SD\u2010related sequence mutations were detected in this study.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our findings provide conclusive evidence for genetic counseling of corresponding families and expand the mutation spectrum of SD. In addition, this study demonstrates that a strategy sequentially including various genetic techniques contributes to the diagnosis of highly heterogeneous genetic disorders such as SD.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.70062","type":"journal-article","created":{"date-parts":[[2025,1,20]],"date-time":"2025-01-20T12:25:21Z","timestamp":1737375921000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Analysis of a Series of 26 Cases With Prenatal Skeletal Dysplasia via Multiplatform Genetic Detection"],"prefix":"10.1002","volume":"13","author":[{"given":"Li\u2010min","family":"Cui","sequence":"first","affiliation":[{"name":"Prenatal Diagnosis Center Langfang Maternal and Child Health Care Hospital  Langfang Hebei China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3933-1451","authenticated-orcid":false,"given":"Hua\u2010ying","family":"Hu","sequence":"additional","affiliation":[{"name":"Birth Defects Prevention and Control Technology Research Center Medical Innovation Research Division of Chinese PLA General Hospital  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiao\u2010mei","family":"Zhai","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center Langfang Maternal and Child Health Care Hospital  Langfang Hebei China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ming\u2010fei","family":"Qi","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center Langfang Maternal and Child Health Care Hospital  Langfang Hebei China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yan\u2010ming","family":"Liu","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center Langfang Maternal and Child Health Care Hospital  Langfang Hebei China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cong\u2010ying","family":"Han","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center Langfang Maternal and Child Health Care Hospital  Langfang Hebei China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9957-3372","authenticated-orcid":false,"given":"Jing","family":"Zhang","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center, Shijiazhuang Obstetrics and Gynecology Hospital; 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