If your doctor suspects that your child has Turner syndrome, a genetic test will be done to analyze his or her chromosomes. (4)
This test is usually done with a sample of blood, although your doctor may take a cheek scraping (buccal swab) or skin sample.
The test determines whether your baby’s cells are missing an X chromosome or have one or more abnormal X chromosomes.
However, the age at which the diagnosis is made varies widely from person to person, due to mild symptoms in some individuals.
Diagnosis may be made before birth, or it may be made at birth if symptoms such as swollen hands and feet or loose folds of skin at the back of the neck are present.
A diagnosis of Turner syndrome may also occur in infancy if a girl is not growing as much or as quickly as expected. Or it may be done in adolescence if the girl is very short or not going through adolescence.
For some women, the diagnosis comes in adulthood, as a result of premature ovarian failure or premature menopause. (2)
Some women with Turner syndrome are never diagnosed if they have only mild features of the syndrome.
Prenatal testing for Turner syndrome
Your doctor can perform one of two tests to make a diagnosis before your baby is born:
- Chorionic villus sampling (CVS)
- Examination of amniotic fluid
Chorionic villus sampling involves taking a small piece of tissue from the placenta, which contains the same genetic material as the baby and can be analyzed to identify errors in the chromosomes. CVS can be done earlier than amniocentesis, but there is a higher chance of complications or the chance that the chromosomes of the placental cells will not exactly reflect the chromosomes of the baby.
In amniocentesis, a sample of amniotic fluid is taken from the uterus and tested to analyze the baby’s chromosomes.
Both tests carry some risks for the mother and baby, which you should discuss with your doctor before having either of them.
Diagnosis of Turner syndrome
The long-term prognosis for women with Turner syndrome is generally positive. (5)
Research indicates that the life expectancy of women with this condition is slightly shorter than the median (which was 76.4 years in the United States in 2021. (6) However, proactive management of related chronic conditions such as diabetes, high blood pressure, and obesity can help.
Most women with Turner syndrome die as a result of related conditions for which they are at increased risk, including heart disease and some forms of cancer. (7)
In addition, regular check-ups and hormone therapy have shown a substantial improvement in the quality and length of life for women with Turner syndrome. (4)
