{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T02:46:29Z","timestamp":1777430789471,"version":"3.51.4"},"reference-count":41,"publisher":"S. Karger AG","issue":"3","license":[{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Fetal Diagn Ther"],"published-print":{"date-parts":[[2024]]},"abstract":"<jats:p>&lt;b&gt;&lt;i&gt;Introduction:&lt;\/i&gt;&lt;\/b&gt; Counseling osteogenesis imperfecta (OI) pregnancies is challenging due to the wide range of onsets and clinical severities, from perinatal lethality to milder forms detected later in life. &lt;b&gt;&lt;i&gt;Methods:&lt;\/i&gt;&lt;\/b&gt; Thirty-eight individuals from 36 families were diagnosed with OI through prenatal ultrasonography and\/or postmortem clinical and radiographic findings. Genetic analysis was conducted on 26 genes associated with OI in these subjects that emerged over the past 20 years; while some genes were examined progressively, all 26 genes were examined in the group where no pathogenic variations were detected. &lt;b&gt;&lt;i&gt;Results:&lt;\/i&gt;&lt;\/b&gt; Prenatal and postnatal observations both consistently showed short limbs in 97%, followed by bowing of the long bones in 89%. Among 32 evaluated cases, all exhibited cranial hypomineralization. Fractures were found in 29 (76%) cases, with multiple bones involved in 18 of them. Genetic associations were disclosed in 27 families with 22 (81%) autosomal dominant and five (19%) autosomal recessive forms, revealing 25 variants in six genes (&lt;i&gt;COL1A1&lt;\/i&gt;, &lt;i&gt;COL1A2&lt;\/i&gt;, &lt;i&gt;CREB3L1&lt;\/i&gt;, &lt;i&gt;P3H1&lt;\/i&gt;, &lt;i&gt;FKBP10&lt;\/i&gt;, and &lt;i&gt;IFITM5&lt;\/i&gt;), including nine novels. Postmortem radiological examination showed variability in intrafamily expression of &lt;i&gt;CREBL3-&lt;\/i&gt; and &lt;i&gt;P3H1&lt;\/i&gt;-related OI. &lt;b&gt;&lt;i&gt;Conclusion:&lt;\/i&gt;&lt;\/b&gt; Prenatal diagnosis for distinguishing OI and its subtypes relies on factors such as family history, timing, ultrasound, genetics, and postmortem evaluation. <\/jats:p>","DOI":"10.1159\/000536324","type":"journal-article","created":{"date-parts":[[2024,2,12]],"date-time":"2024-02-12T22:00:31Z","timestamp":1707775231000},"page":"285-299","source":"Crossref","is-referenced-by-count":2,"title":["Association of Antenatal Evaluations with Postmortem and Genetic Findings in the Series of Fetal Osteogenesis 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