How can my daughter’s doctor tell if she has Turner syndrome?
A diagnosis of Turner syndrome may be made either before or after birth. The most reliable way is by using a blood test called a karyotype, a chromosomal analysis that has 99.9 percent accuracy. For this procedure, a specialist counts the chromosomes in the white blood cells and looks for abnormalities.
Diagnosing Turner syndrome before birth
A karyotype may be performed on cells in the amniotic fluid.
Fetal ultrasound during pregnancy can give information about the possibility of Turner syndrome, but it isn’t 100 percent accurate. Many babies with Turner syndrome may look the same on ultrasound as those without Turner syndrome.
Diagnosing Turner syndrome after birth
A karyotype will be performed to examine your child’s chromosomal makeup.
Once the diagnosis is made, other studies that we may recommend are:
- echocardiogram (heart ultrasound)
- ultrasound of reproductive organs and kidneys
- pelvic exam
- magnetic resonance imaging (MRI) of the chest
Due to great variability in the physical features exhibited by girls with Turner syndrome, a diagnosis may not be made until a young woman fails to go through puberty.