Chromosome problems such as TS can often be diagnosed before birth. This is done by looking at cells in the amniotic fluid or from the placenta. These tests are very accurate.
Testing can also be done by looking at the amount of the baby’s DNA in the mother's blood. This is called noninvasive prenatal screening, which is not completely accurate and will need additional tests to confirm the diagnosis.
Fetal ultrasound during pregnancy can also show the possibility of Turner syndrome. But ultrasound is not 100% accurate. Problems due to the disorder may not be seen with ultrasound.
If your health care provider thinks that your newborn baby may have TS, he or she will often take a small sample of your baby’s blood. The lab will look at the sample to see if one X-chromosome is missing or for defects in the X-chromosome.
Your health care provider may refer you to a genetic counselor. This expert can explain the results of chromosome tests, as well as tests available to diagnose chromosome problems before a baby is born.
Sometimes a child with TS doesn’t have any problems as a baby or child. But health care providers may suspect TS if short stature or delay in puberty is noticed.