How do health care providers diagnose osteogenesis imperfecta (OI)?

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

If a parent or sibling has OI, a health care provider can test the DNA of the fetus for the presence of an OI mutation. In this case, a health care provider obtains a sample of fetal cells by chorionic villus (pronounced KOHR-ee-on-ik VILL-uhs) sampling (CVS) or amniocentesis (pronounced am-nee-oh-sen-TEE-sis). The fetal cells can also be tested for the presence of abnormal collagen.

For amniocentesis, a health care 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 health care 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 health care provider may notice symptoms in an infant or child. The health care 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

Health care 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


  1. Forlino A, Cabral WA, Barnes AM, & Marini JC. (2011). New Perspectives on Osteogenesis Imperfecta. Nat Rev Endocrinol, Jun 14;7(9), 540-557.
  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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