Because of a lapse in government funding, the information on this website may not be up to date, transactions submitted via the website may not be processed, and the agency may not be able to respond to inquiries until appropriations are enacted.

The NIH Clinical Center (the research hospital of NIH) is open. For more details about its operating status, please visit cc.nih.gov.

Updates regarding government operating status and resumption of normal operations can be found at OPM.gov.

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.
top of page BACK TO TOP