How do healthcare providers diagnose osteogenesis imperfecta (OI)?

If OI is moderate or severe, healthcare providers usually diagnose it during prenatal ultrasound at 18 to 24 weeks of pregnancy.

If a parent or sibling has OI, a healthcare provider can test the DNA of the fetus for the presence of an OI mutation. In this case, a healthcare provider obtains a sample of fetal cells by chorionic villus sampling (CVS) or amniocentesis. The fetal cells can also be tested for the presence of abnormal collagen.

For amniocentesis, a healthcare provider takes a small amount of fluid from the sac surrounding the fetus for testing. He or she takes the sample by inserting a thin needle into the uterus through the abdomen. For CVS, a healthcare provider uses a similar procedure to take a sample of tissue from the placenta for testing.

If OI is not detected prenatally, parents or a healthcare provider may notice symptoms in an infant or child. The healthcare provider may perform the following:

  • Physical exam, which includes:
    • Measuring the length of limbs
    • Measuring the head circumference
    • Examining the eyes and teeth
    • Examining the spine and rib cage
  • Personal and family medical history, which include questions about:
    • Broken bones
    • Hearing loss
    • Brittle teeth
    • Adult height
    • Racial background
    • Whether close relatives have had children together
  • X-ray
  • Bone density test
  • Bone biopsy, in some cases

Healthcare providers may send blood or skin samples to a lab for collagen or genetic testing. These tests usually confirm whether a person has OI.1,2,3

Citations

  1. Forlino A, Cabral WA, Barnes AM, & Marini JC. (2011). New Perspectives on Osteogenesis Imperfecta. Nat Rev Endocrinol, Jun 14;7(9), 540-557. https://pubmed.ncbi.nlm.nih.gov/21670757/
  2. Forlino, A., Cabral, W. A., Barnes, A. M., & Marini, J. C. (2011). New perspectives on osteogenesis imperfecta. Nature Reviews Endocrinology, 7, 540–557.
  3. Marini, J. C., Letocha, A. D., & Chernoff, E. J. (2005). Osteogenesis imperfecta. In S. B. Cassidy & J. E. Allanson (Eds.), Management of genetic syndromes. Hoboken, NJ: Wiley.
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