{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T09:57:26Z","timestamp":1780567046006,"version":"3.54.1"},"reference-count":25,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2025,2,2]],"date-time":"2025-02-02T00:00:00Z","timestamp":1738454400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,3,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Osteogenesis imperfecta is a genetic condition with improperly or inadequately produced Type I collagen. Manifestations include bowing deformities, fractures, hydrocephalus, respiratory insufficiency, and feeding difficulty. Moderate or severe OI is often diagnosed prenatally based on ultrasound findings and genetic testing may be labeled as lethal. Here, we present 18 infants with moderate to severely presenting OI who received neonatal care at a single center over a 5\u00a0yr period, 10 of which were delivered at our institution. All 18 infants survived to neonatal discharge, with 7 infants requiring respiratory support and 9 infants requiring feeding support at discharge. Through Fisher Exact Test, Mann\u2013Whitney U Test and backward elimination regression, we do not observe that lethal or possibly lethal diagnoses prenatally were correlated with medically relevant outcomes such as need for respiratory support at discharge or need for feeding support at discharge. Sixteen of the eighteen individuals are alive, with a minority requiring either respiratory or feeding support. With a multidisciplinary team approach to neonatal care, outcomes may be optimized. Infants formerly diagnosed with lethal OI may survive. Given our findings, and lack of correlation of prenatal assessments with survival and other medical outcomes, we recommend all families be given the option to pursue medical interventions.<\/jats:p>","DOI":"10.1093\/jbmrpl\/ziaf022","type":"journal-article","created":{"date-parts":[[2025,2,2]],"date-time":"2025-02-02T16:48:46Z","timestamp":1738514926000},"source":"Crossref","is-referenced-by-count":3,"title":["Most infants with prenatal osteogenesis imperfecta diagnosis and poor prognosis survive: experience of a quaternary care osteogenesis imperfecta center"],"prefix":"10.1093","volume":"9","author":[{"given":"Ricki S","family":"Carroll","sequence":"first","affiliation":[{"name":"Division of Orthogenetics, Department of Pediatrics, Nemours Children's Hospital , Wilmington, DE 19803 ,","place":["United States"]},{"name":"Sidney Kimmel Medical College, Thomas Jefferson University , Philadelphia, PA 19107 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Little","sequence":"additional","affiliation":[{"name":"Division of Orthogenetics, Department of Pediatrics, Nemours Children's Hospital , Wilmington, DE 19803 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tina","family":"McGreal","sequence":"additional","affiliation":[{"name":"Division of Orthogenetics, Department of Pediatrics, Nemours Children's Hospital , Wilmington, DE 19803 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shannon","family":"Bonner","sequence":"additional","affiliation":[{"name":"Division of Orthogenetics, Department of Pediatrics, Nemours Children's Hospital , Wilmington, DE 19803 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daria","family":"Willis","sequence":"additional","affiliation":[{"name":"Sidney Kimmel Medical College, Thomas Jefferson University , Philadelphia, PA 19107 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeanne M","family":"Franzone","sequence":"additional","affiliation":[{"name":"Sidney Kimmel Medical College, Thomas Jefferson University , Philadelphia, PA 19107 ,","place":["United States"]},{"name":"Department of Orthopedics, Nemours Children\u2019s Hospital , Wilmington, DE 19803 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffery","family":"Campbell","sequence":"additional","affiliation":[{"name":"Sidney Kimmel Medical College, Thomas Jefferson University , Philadelphia, PA 19107 ,","place":["United States"]},{"name":"Division of Neurosurgery, Department of General Surgery, Nemours Children\u2019s Hospital , Wilmington, DE 19803 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margaret","family":"Chou","sequence":"additional","affiliation":[{"name":"Sidney Kimmel Medical College, Thomas Jefferson University , Philadelphia, PA 19107 ,","place":["United States"]},{"name":"Advanced Delivery Program, Department of General Surgery, Nemours Children\u2019s Hospital , Wilmington, DE 19803 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Megan B","family":"Raymond","sequence":"additional","affiliation":[{"name":"Sidney Kimmel Medical College, Thomas Jefferson University , Philadelphia, PA 19107 ,","place":["United States"]},{"name":"Department of Obstetrics and Gynecology, Thomas Jefferson University Hospital , Philadelphia, PA 19107 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Schelhaas","sequence":"additional","affiliation":[{"name":"Advanced Delivery Program, Department of General Surgery, Nemours Children\u2019s Hospital , Wilmington, DE 19803 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanna","family":"Costa","sequence":"additional","affiliation":[{"name":"Sidney Kimmel Medical College, Thomas Jefferson University , Philadelphia, PA 19107 ,","place":["United States"]},{"name":"Advanced Delivery Program, Department of General Surgery, Nemours Children\u2019s Hospital , Wilmington, DE 19803 ,","place":["United States"]},{"name":"Division of Neonatology, Department of Pediatrics, Nemours Children\u2019s Hospital , DE ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-0120-4535","authenticated-orcid":false,"given":"Mahim","family":"Jain","sequence":"additional","affiliation":[{"name":"Division of Orthogenetics, Department of Pediatrics, Nemours Children's Hospital , Wilmington, DE 19803 ,","place":["United States"]},{"name":"Sidney Kimmel Medical College, Thomas Jefferson University , Philadelphia, PA 19107 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2025,2,2]]},"reference":[{"issue":"9","key":"2025031810225380200_ref1","doi-asserted-by":"publisher","first-page":"540","DOI":"10.1038\/nrendo.2011.81","article-title":"New perspectives on osteogenesis imperfecta","volume":"7","author":"Forlino","year":"2011","journal-title":"Nat Rev Endocrinol"},{"issue":"4","key":"2025031810225380200_ref2","doi-asserted-by":"publisher","first-page":"e216","DOI":"10.1542\/neo.22-4-e216","article-title":"Revisiting skeletal Dysplasias in the Newborn","volume":"22","author":"Langston","year":"2021","journal-title":"NeoReviews"},{"issue":"1","key":"2025031810225380200_ref3","doi-asserted-by":"publisher","first-page":"17052","DOI":"10.1038\/nrdp.2017.52","article-title":"Osteogenesis 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