{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T00:58:31Z","timestamp":1790125111774,"version":"4.0.1"},"reference-count":58,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2024,4,1]],"date-time":"2024-04-01T00:00:00Z","timestamp":1711929600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Clinical Ultrasound"],"published-print":{"date-parts":[[2024,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>To analyze the value of prenatal ultrasound and molecular testing in diagnosing fetal skeletal dysplasia (SD).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Clinical data, prenatal ultrasound data, and molecular results of pregnant women with fetal SD were collected in the ultrasound department of our clinic from May 2019 to December 2021.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A total of 40 pregnant women with fetal SD were included, with 82.5% exhibiting short limb deformity, followed by 25.0% with central nervous system malformations, 17.50% with facial malformations, 15% with cardiac malformations, and 12.5% with urinary system malformations. The genetic testing positive rate was 70.0% (28\/40), with 92.8% (26\/28) being single\u2010gene disorders due to mutations in <jats:italic>FGFR3<\/jats:italic>, <jats:italic>COL1A1<\/jats:italic>, <jats:italic>COL1A2<\/jats:italic>, <jats:italic>EVC2<\/jats:italic>, <jats:italic>FLNB<\/jats:italic>, <jats:italic>LBR<\/jats:italic>, and <jats:italic>TRPV4<\/jats:italic> genes. The most common SD subtypes were osteogenesis imperfecta (OI), thanatophoric dysplasia (TD), and achondroplasia (ACH). The gestational age (GA) at initial diagnosis for TD, OI, and ACH was 16.6, 20.9, and 28.3\u2009weeks, respectively (<jats:italic>p<\/jats:italic>\u2009&lt;\u20090.05), with no significant difference in femoral shortening between the three groups (<jats:italic>p<\/jats:italic>\u2009&gt;\u20090.05). Of the OI cases, 5 out of 12 had a family history.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Short limb deformity is the most prevalent phenotype of SD. 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