Turner Syndrome

Healthcare providers may diagnose Turner syndrome at any stage of a child’s development after birth. Sometimes, they can detect the condition before birth with the following tests:

• Noninvasive prenatal testing (NIPT): This is a screening blood test for the pregnant parent. It checks for signs that show an increased chance of a chromosomal issue with the fetus. Not every pregnant person gets this type of screening.
• Ultrasound during pregnancy: An ultrasound may show that the fetus has some physical features of TS, like heart problems or fluid around the neck. They’ll likely request amniocentesis or chorionic villus sampling to help confirm the diagnosis.
• Amniocentesis and chorionic villus sampling: These tests check the amniotic fluid or tissue from the placenta. Providers perform a genetic test with karyotype analysis on the fluid or tissue, which can confirm if the fetus has Turner syndrome.

Other times, children receive a diagnosis soon after birth or during early childhood because of their symptoms. But some people aren’t diagnosed with Turner syndrome until they reach adulthood. These people AFAB may go through puberty and get their periods. But they often have primary ovarian insufficiency (early menopause).

After birth, a genetic test with karyotype analysis is the test that confirms a Turner syndrome diagnosis. This test requires a blood draw.