How Do Doctors Diagnose Turner Syndrome (TS)?
Diagnosis of TS can happen at any age, depending on your child’s symptoms and development. Doctors usually diagnose TS through a blood test, a cheek swab (a cotton swab rubbed against the inner cheek) or both. The cells from the sample are then grown and analyzed for chromosomes in the laboratory. It can be hard to diagnose TS just through checking your child’s medical symptoms.
Turner syndrome may be diagnosed before birth if a pregnant woman has prenatal genetic testing to check her baby’s developing chromosomes.
After birth, chromosome tests to check for TS might be done if a female baby has a puffy neck, hands or feet, or is born with heart disease.
Other girls are diagnosed because they are short and growing slowly or because they do not start puberty at a normal age. In general, it is hard to tell what other medical conditions a person with TS may have based on the chromosome test.