{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,13]],"date-time":"2026-09-13T18:03:59Z","timestamp":1789322639515,"version":"build-2803163510"},"reference-count":44,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2026,6,26]],"date-time":"2026-06-26T00:00:00Z","timestamp":1782432000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,6,26]],"date-time":"2026-06-26T00:00:00Z","timestamp":1782432000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2026,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      To review the published literature on prenatal findings of\n                      <jats:italic>COL2A1<\/jats:italic>\n                      \u2010related SEDC, summarizing reported imaging and molecular variants, and to describe two additional prenatal cases evaluated at a tertiary referral center.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Method<\/jats:title>\n                    <jats:p>\n                      A narrative review with a systematic search strategy was conducted to analyze prenatal imaging findings, gestational age at detection, and molecular diagnoses in cases of\n                      <jats:italic>COL2A1<\/jats:italic>\n                      \u2010related SEDC. Clinical and molecular description of two additional fetal cases with postnatal molecular confirmation were also included.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Gestational age at initial detection ranged from 11 to 28\u00a0weeks. Five reported cases occurred in a familial setting, while two were initially considered sporadic. In several cases, complementary imaging modalities were required to better characterize vertebral and ossification defects. A clear genotype\u2013phenotype correlation could not be reliably established; no specific molecular pattern reliably predicted the severity of prenatal imaging findings or perinatal outcomes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Our findings highlight the nonspecific nature of prenatal manifestations in COL2A1\u2010related SEDC, which despite being largely consistent across cases do not allow for a specific diagnosis without molecular confirmation or a known family history. These challenges underscore the need for a comprehensive diagnostic strategy that integrates detailed imaging, molecular genetic testing, and close collaboration within a multidisciplinary team.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/pd.70201","type":"journal-article","created":{"date-parts":[[2026,6,27]],"date-time":"2026-06-27T05:24:17Z","timestamp":1782537857000},"page":"1637-1647","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Prenatal Spectrum of\n                    <i>COL2A1<\/i>\n                    \u2010Related Spondyloepiphyseal Dysplasia Congenita: A Review and Two Case Reports"],"prefix":"10.1002","volume":"46","author":[{"given":"L\u00f3pez\u2010Rodr\u00edguez","family":"Larissa","sequence":"first","affiliation":[{"name":"Department of Genetics and Human Genomics National Institute of Perinatology  Mexico City Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-1680-2691","authenticated-orcid":false,"given":"Le\u00f3n\u2010Madero Luis","family":"Felipe","sequence":"additional","affiliation":[{"name":"Department of Genetics and Human Genomics National Institute of Perinatology  Mexico City Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jim\u00e9nez\u2010Chaidez","family":"Salvador","sequence":"additional","affiliation":[{"name":"Fetal Medicine Department National Institute of Perinatology  Mexico City Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gallardo\u2010Gaona Juan","family":"Manuel","sequence":"additional","affiliation":[{"name":"Fetal Medicine Department National Institute of Perinatology  Mexico City Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rodr\u00edguez\u2010Sibaja Mar\u00eda","family":"Jose","sequence":"additional","affiliation":[{"name":"Fetal Medicine Department Neurosonography National Institute of Perinatology  Mexico City Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Casta\u00f1eda\u2010de\u2010la\u2010Fuente","family":"Angelica","sequence":"additional","affiliation":[{"name":"Department of Genetics and Human Genomics National Institute of Perinatology  Mexico City Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Del Castillo\u2010Reyes Katia","family":"Alejandra","sequence":"additional","affiliation":[{"name":"Department of Genetics and Human Genomics National Institute of Perinatology  Mexico City Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1662-9239","authenticated-orcid":false,"given":"Ya\u00f1ez\u2010Felix Ana","family":"Lucia","sequence":"additional","affiliation":[{"name":"Department of Genetics and Human Genomics National Institute of Perinatology  Mexico City 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