{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,26]],"date-time":"2026-10-26T19:06:41Z","timestamp":1793041601104,"version":"4.5.0"},"reference-count":15,"publisher":"Oxford University Press (OUP)","issue":"1147","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BJR"],"published-print":{"date-parts":[[2023,7]]},"abstract":"<jats:p>Bone dysplasias are individually rare but collectively common. The prenatal diagnosis of bone dysplasias, especially perinatally lethal dysplasias, is of major interest to obstetric services. The current nosology of genetic skeletal disorders addresses over 400 disorders. However, in clinical practice, we encounter only a limited number of disorders, such as FGFR3-related dysplasias, osteogenesis imperfecta, and type II collagenopathies. The recent development of non-invasive prenatal genetic testing using cell-free fetal DNA in maternal blood samples has had a major impact on the prenatal diagnosis of genetic diseases. However, imaging examinations remain critical for the final diagnosis of bone dysplasias because molecular testing only shows genetic variants, and not their pathogenicity \u2013 most variants are clinically insignificant. Bone dysplasias are typically suspected when limb shortening is identified by screening ultrasound. Further assessment can be followed by more detailed ultrasound, magnetic resonance imaging (MRI), and CT. Based on these data, rational decision-making is feasible, even when the definitive prenatal diagnosis is not feasible. Here, we highlight key images of common bone dysplasias obtained by currently available modalities.<\/jats:p>","DOI":"10.1259\/bjr.20221025","type":"journal-article","created":{"date-parts":[[2023,6,26]],"date-time":"2023-06-26T04:54:20Z","timestamp":1687755260000},"source":"Crossref","is-referenced-by-count":14,"title":["Prenatal diagnosis of bone dysplasias"],"prefix":"10.1093","volume":"96","author":[{"given":"Gen","family":"Nishimura","sequence":"first","affiliation":[{"name":"Japan Forum of Fetal Skeletal Dysplasia, Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6401-4629","authenticated-orcid":false,"given":"Atsuhiko","family":"Handa","sequence":"additional","affiliation":[{"name":"Department of Radiology, Boston Children\u2019s Hospital, Boston, MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Osamu","family":"Miyazaki","sequence":"additional","affiliation":[{"name":"Japan Forum of Fetal Skeletal Dysplasia, Tokyo, Japan"},{"name":"Department of Radiology, National Center for Child Health and Development, Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuko","family":"Tsujioka","sequence":"additional","affiliation":[{"name":"Department of Radiology, Keio University School of Medicine, Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Murotsuki","sequence":"additional","affiliation":[{"name":"Japan Forum of Fetal Skeletal Dysplasia, Tokyo, Japan"},{"name":"Department of Maternal and Fetal Medicine, Tohoku University Graduate School of Medicine, Miyagi Children's Hospital, Miyagi, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hideaki","family":"Sawai","sequence":"additional","affiliation":[{"name":"Japan Forum of Fetal Skeletal Dysplasia, Tokyo, Japan"},{"name":"Department of Clinical Genetics, Hyogo Medical University Hospital, Hyogo, 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