[Osteogenesis imperfecta in pregnancy (author's transl)]

Area of Science:

• Genetics
• Obstetrics
• Pediatrics

Background:

• Osteogenesis imperfecta (OI) is a prevalent inherited connective tissue disorder characterized by bone fragility.
• Genetic mutations affecting collagen synthesis lead to this condition, manifesting in varying degrees of severity.
• Understanding the genetic basis of OI is crucial for diagnosis and management.

Observation:

• A case of a pregnant patient with osteogenesis imperfecta is presented.
• The review covers the disease's characteristics, inheritance patterns, and diagnostic methods.
• Careful antenatal monitoring is essential for affected pregnancies.

Findings:

• Osteogenesis imperfecta necessitates meticulous antenatal surveillance.
• Delivery via primary Cesarean section with gentle infant handling is the preferred method.
• This approach aims to minimize the risk of iatrogenic fractures during childbirth.

Implications:

• Optimal delivery strategies can significantly reduce birth trauma in infants with OI.
• Early diagnosis and management planning improve outcomes for affected newborns.
• Further research into prenatal interventions for OI may enhance fetal bone development.