Health outcomes of neonates with osteogenesis imperfecta: a cross-sectional study

Doris P Yimgang1, Evelise Brizola1,2, Jay R Shapiro1

  • 1a Bone and Osteogenesis Imperfecta Department, Kennedy Krieger Institute, Johns Hopkins School of Medicine , Baltimore , MD , USA and.

Insights

Neonates with osteogenesis imperfecta (OI) face high risks of skeletal disorders, preterm birth, and breech presentation. Younger maternal age and preterm delivery predict the need for neonatal intensive care unit (NICU) admission.

Area of Science:

  • Perinatal Medicine
  • Genetics
  • Neonatology

Background:

  • Osteogenesis imperfecta (OI) is a group of genetic disorders characterized by fragile bones.
  • Understanding at-birth health outcomes in neonates with OI is crucial for timely intervention and improved care.
  • Previous research has focused on long-term management, with less emphasis on immediate neonatal health challenges.

Purpose of the Study:

  • To evaluate the at-birth health status and complications in newborns diagnosed with osteogenesis imperfecta (OI).
  • To identify risk factors associated with adverse neonatal outcomes in infants with OI.
  • To inform clinical practice regarding the management of pregnant women with OI and their neonates.

Main Methods:

  • A survey was administered to 53 mothers reporting at least one child with OI.
  • Data collected included pregnancy duration, neonatal intensive care unit (NICU) admission, birth complications, and infant clinical details (OI type, physical measurements).
  • Statistical analysis was performed to identify associations between maternal and neonatal factors and outcomes.

Main Results:

  • The study analyzed data from 77 neonates with OI (60 type I, 4 type III, 13 type IV).
  • Common at-birth conditions included breech presentation (24%), prematurity (27%), fractures (18%), bone deformities (18%), and respiratory issues (22%).
  • Thirty-one percent of neonates required NICU care, with younger maternal age and preterm delivery significantly associated with NICU admission.

Conclusions:

  • Newborns with OI exhibit a high prevalence of skeletal disorders, preterm birth, and breech presentation.
  • Younger maternal age and preterm delivery are significant predictors for NICU admission in infants with OI.
  • Pregnant women with OI, especially those under 20, may require enhanced clinical supervision to anticipate and manage potential adverse neonatal outcomes.
Abstract

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