CASE REPORT Case Report: A prenatal diagnosis of osteogenesis imperfecta in a patient with a novel pathogenic variant in COL1A2 [version 1; peer review: awaiting peer review] Melissa Sindy Peláez Chomba 1 , Guillermo Raúl Vásquez Gómez 1 , Yasser Ciro Sullcahuaman Allende 2,3 , Julio Cesar Mendoza Fernández 4 , Nelson David Purizaca Rosillo 5 , Alejandra Zevallos 6 , Vicente Leandro Cruzate Cabrejos 1,6 1 Departamento de Gineco Obstetricia, Hospital Nacional Docente Madre Niño San Bartolomé, Lima, Lima, Cercado de Lima 15001, Peru 2 School of Medicine, Universidad Peruana Cayetano Heredia, Lima, Lima, San Martin de Porres 15102, Peru 3 Instituto de Investigación Genómica, IGENOMICA, Lima, Lima, San Borja 15037, Peru 4 Unidad Funcional de Genética y Biología Molecular, Instituto Nacional de Enfermedades Neoplásicas, Lima, Lima, Surquillo 15038, Peru 5 Escuela Profesional de Medicina Humana, Universidad Privada San Juan Bautista, Ica, Ica, Subtanjalla 11004, Peru 6 Escuela Profesional de Medicina Humana, Universidad Privada San Juan Bautista, Lima, Lima, Chorrillos 15067, Peru First published: 05 Jun 2023, 12:603 https://doi.org/10.12688/f1000research.131094.1 Latest published: 05 Jun 2023, 12:603 https://doi.org/10.12688/f1000research.131094.1 v1 Abstract Osteogenesis imperfecta is considered a rare genetic condition which is characterized by bone fragility. In 85% of cases, it is caused by mutations in COL1A1 and COL1A2 genes which are essential to produce type I collagen. We report the case of a female neonate delivered to a 27-year-old women at San Bartolomé Teaching Hospital with a family history of clavicle fracture. A prenatal control with ultrasound was performed to the mother at 29 weeks. A fetus with altered morphology and multiple fractures was found. Therefore, a prenatal diagnosis of osteogenesis imperfecta was performed. The neonate was born with a respiratory distress syndrome and an acyanotic congenital heart disease. Therefore, she remained in NICU until her death. We highlight the importance of prenatal diagnosis, genetic counseling and a multidisciplinary evaluation in this type of pathologies and report a new probably pathogenic variant in the COL1A2 gene detected by exomic sequencing in amniotic fluid. Keywords Osteogenesis imperfecta, newborn, prenatal diagnosis Open Peer Review Approval Status AWAITING PEER REVIEW Any reports and responses or comments on the article can be found at the end of the article. Page 1 of 8 F1000Research 2023, 12:603 Last updated: 05 JUN 2023