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- Clinical findings: Achondroplasia can be diagnosed based on the patient's physical features shortly after birth. A doctor examines these features during a physical examination. Medical tests, such as X-rays and other imaging techniques, may also be performed to look at the bones. People that have the characteristic signs and symptoms of the disease are diagnosed. Prenatal genetic testing may also be performed to diagnose the condition in a fetus.
- Genetic testing: If an ultrasound suggests that a fetus may have achondroplasia, or if one or both parents have the disorder, prenatal testing may be suggested. Depending on the specific type of prenatal test performed, a doctor either takes a sample of the mother's amniotic fluid or tissue from the placenta (called chorionic villis). The sample is then analyzed for the presence of one of the mutated genes that are known to cause achondroplasia.
- There are risks associated with prenatal testing, including miscarriage. Therefore, patients should talk to their doctors about the potential health risks and benefits before making any health-related decisions.
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