How is osteogenesis imperfecta (OI) diagnosed?
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Osteogenesis imperfecta (OI) cannot be diagnosed through one specific test. Rather, a combination of information is used to diagnose this disorder. The lethal form of OI can be detected in a fetus during a woman's pregnancy by using an ultrasound exam. Generally, however, doctors must look at a collection of information from X-rays, a person's family history and personal medical background, and a comprehensive physical exam before diagnosing OI. Skin samples and blood tests are routinely used to confirm the presence of the disorder. While results from such clinical tests are highly conclusive, they can take upwards of several weeks.
Osteogenesis imperfecta (OI) cannot be diagnosed through one specific test. Rather, a combination of information is used to diagnose this disorder. The lethal form of OI can be detected in a fetus during a woman's pregnancy by using an ultrasound... More -
Johns Hopkins Medicine answered:Several forms of osteogenesis imperfecta (otherwise known as OI or brittle bone disease) can be detected in a baby using prenatal genetic testing.
A child who experiences multiple bone breaks should be evaluated by a physician. Also, the whites of the child’s eyes may have a slight blue tint.
A physician may decide to do a skin biopsy to make a diagnosis, and family members may be asked to undergo a DNA test.
Several forms of osteogenesis imperfecta (otherwise known as OI or brittle bone disease) can be detected in a baby using prenatal genetic testing. A child who experiences multiple bone breaks should be evaluated by a physician. Also, the... More -
General: It may be possible to diagnose osteogenesis imperfecta (OI) based solely on symptoms. OI is usually suspected in children whose bones break with very little force. A physical examination may show that the whites of the eyes (sclera) have a blue tint.
Collagen analysis: Collagen analysis from a skin sample may confirm a clinical diagnosis. The collagen biopsy test looks for mutations in the COL1A1, COL1A2, CRTAP, and LEPRE1 genes.
Genetic tests: DNA sequencing from a blood sample may confirm a clinical diagnosis. A positive type I collagen genetic test confirms the diagnosis of autosomal dominant OI, but a negative result does not rule out OI. When a type I collagen mutation is not found, other DNA tests are used to check for other types of OI. Due to the fact that so many different mutations can cause OI and that many mutations have not been identified, some forms cannot be diagnosed with a genetic test.
Prenatal diagnosis: Severe forms can sometimes be diagnosed prenatally (or while the fetus develops in the womb). If there is a family history of OI, chorionic villus sampling or amniocentesis may be done during pregnancy to determine if the baby has mutations that could cause the condition. In some cases, an ultrasound can identify bone abnormalities in an unborn baby at 14-18 weeks.
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General: It may be possible to diagnose osteogenesis imperfecta (OI) based solely on symptoms. OI is usually suspected in children whose bones break with very little force. A physical examination may show that the whites of the eyes (sclera) have... More
