Timila Dipsal, Mousa Amna, Gundamraj Lalitha
Department of Pediatrics, Pediatric Residency Program, Michigan State University/University of Michigan Health- Sparrow Hospital, Lansing, MI, United States.
Department of Pediatrics and Human Development, College of Human Medicine, Division of Neonatology, Michigan State University, East Lansing, MI, United States.
Front Pediatr. 2025 Jun 11;13:1475545. doi: 10.3389/fped.2025.1475545. eCollection 2025.
Osteogenesis Imperfecta (OI) Type II is the most severe and often lethal form of OI, characterized by profound skeletal fragility and perinatal complications, most notably respiratory failure secondary to thoracic deformities and pulmonary hypoplasia. Effective NICU management requires a holistic, family-centered approach combined with comprehensive medical care, and can be particularly challenging in centers with limited experience managing similar conditions. This is further complicated by ethical dilemmas, including decisions regarding the extent of interventions requiring nuanced judgment and continual reassessment of goals of care.
We describe a term infant prenatally diagnosed with OI Type II, born to an 18-year-old mother. After prenatal counseling from maternal fetal medicine (MFM) and neonatologist about the poor prognosis, the mother opted to continue the pregnancy. At birth, the baby presented with multiple fractures, severe growth restriction and required noninvasive positive pressure ventilation. Management required balancing medical interventions with family goals, the infant's quality of life, and ethical dilemmas due to the life-limiting prognosis. A holistic approach involved early multidisciplinary collaboration, weekly communication of family goals, and consistent medical updates along with supporting the teen mother and her family through complex decisions. This led to a safe discharge to concurrent hospice care with supplemental oxygen via nasal cannula and a feeding tube, alongside comprehensive specialty follow-up.
This case helps expand the scope of what is possible for families facing life-limiting diagnosis. It informs best practices for navigating prognostic uncertainty, guiding ethical decision-making, and promoting holistic support beyond survival metrics. Cases like this advocate for a shift in focus from solely survival to quality of life and help establish thoughtful standards for managing severe skeletal dysplasias within perinatal and neonatal care frameworks.
II型成骨不全症（OI）是OI最严重且通常致命的形式，其特征为严重的骨骼脆弱以及围产期并发症，最显著的是继发于胸廓畸形和肺发育不全的呼吸衰竭。有效的新生儿重症监护室（NICU）管理需要采用以家庭为中心的整体方法并结合全面的医疗护理，在管理类似病症经验有限的中心可能尤其具有挑战性。这因伦理困境而进一步复杂化，包括关于干预程度的决策，这需要细致入微的判断以及对护理目标的持续重新评估。
我们描述了一名足月婴儿，产前诊断为II型OI，其母亲为一名18岁的女性。在接受母胎医学（MFM）和新生儿科医生关于预后不良的产前咨询后，母亲选择继续妊娠。婴儿出生时出现多处骨折、严重生长受限，需要无创正压通气。由于预后危及生命，管理需要在医疗干预与家庭目标、婴儿生活质量以及伦理困境之间取得平衡。整体方法包括早期多学科协作、每周沟通家庭目标、持续提供一致的医疗最新情况，以及在复杂决策过程中支持青少年母亲及其家庭。这导致婴儿安全出院，同时通过鼻导管吸氧和胃管喂养接受临终关怀护理，并接受全面的专科随访。
本病例有助于扩大面临危及生命诊断的家庭的可能性范围。它为应对预后不确定性、指导伦理决策以及在生存指标之外促进整体支持提供了最佳实践。这样的病例倡导将重点从单纯的生存转向生活质量，并有助于在围产期和新生儿护理框架内为管理严重骨骼发育异常建立深思熟虑的标准。
