What Is Osteogenesis Imperfecta?
Reviewed: Dr. Mera
6. Diagnosis in Utero
Type II OI can be diagnosed before birth. With this severe form of the disease, fractures often occur in utero. During a prenatal ultrasound performed at 18 to 24 weeks of pregnancy, a health care provider may diagnose the condition through evidence of fractures or bowed bones.
If a family member has OI, amniocentesis or chorionic villus sampling (CVS) may be used to test for the presence of the gene mutation. A sample of the amniotic fluid is studied, as well as a tissue sample from the placenta. Chromosomal abnormalities may indicate the mutation for OI.
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