Turner syndrome

Diagnosis and Testing

How do I get tested for Turner syndrome?

The diagnosis of Turner syndrome can be made at almost any age, from before birth (prenatally) to well into adulthood. Doctors may suspect a diagnosis Turner syndrome because of specific symptoms. At birth, a webbed neck, congenital heart defects or swollen hands or feet may lead to suspicion of the disorder. During childhood, slow growth and other physical changes may lead to a diagnosis. Teen-aged girls who are small for their age, have nipples that are widely spaced apart, or fail to undergo puberty or get their period may be tested for Turner syndrome.

To test for Turner syndrome, doctors will take a blood sample and use this sample to examine a person's chromosome makeup. This is called karyotyping. Karyotyping allows a doctor to examine the size, shape and number of a person's chromosomes. This test will detect a missing or altered X chromosome.

Sometimes Turner syndrome is diagnosed before birth. This usually happens incidentally because doctors were testing a fetus for unrelated reasons. Sometimes, a routine fetal ultrasound called a sonogram may show abnormalities that are associated with Turner syndrome like kidney abnormalities or congenital heart defects.

If you believe that you or your child has Turner syndrome, you can request or seek out a referral to a genetics clinic that may be more familiar with these disorders. There are Turner syndrome clinics in the United States that specialist in this disorder. The Turner Syndrome Society and the Turner Syndrome Foundation have information on these clinics. The Genetics and Rare Diseases Information Center provides information on how to find healthcare professionals with experience in specific conditions, specialty treatment centers, genetics clinics, and researchers who are studying a specific condition.

Usually, Turner syndrome is not inherited. Even so, if you suspect that someone in your family has Turner syndrome, you should also talk to a genetic counselor in your area.

References
  • Backeljauw P. Clinical manifestations and diagnosis of Turner syndrome. UpToDate Inc. website. http://www.uptodate.com/contents/clinical-manifestations-and-diagnosis-of-turner-syndrome
  • Learning About Turner Syndrome. The National Human Genome Research Institute website. https://www.genome.gov/19519119/
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More Diagnosis and Testing Content

Is there newborn screening for Turner syndrome?

What tests support a diagnosis of Turner syndrome?

Who else in my family should I test for Turner syndrome?

Can Turner syndrome be detected before birth?

Is there newborn screening for Turner syndrome?

Turner syndrome is not one of the disorders that is screened for at birth. If a baby appears to have health problems that could be caused by Turner syndrome, the easiest way to begin testing for the disorder is to discuss it with the pediatrician or primary doctor. Referral to a metabolic genetic specialist may be necessary. Testing information in your area can also be obtained through a genetic counselor, to find a genetic counselor visit the National Society of Genetic Counselors Find a Genetic Counselor website. Information about newborn screening programs can be found at Save Babies Through Screening Foundation or Baby's First Test.

References
  • The Save Babies Through Screening Foundation website. http://savebabies.org/
  • The Baby's First Test website. http://www.babysfirsttest.org/
What tests support a diagnosis of Turner syndrome?

The main test used to diagnose Turner syndrome is called karyotyping. This involves taking a small blood sample and studying it to evaluate a person's chromosomes. Karyotyping allows a doctor to examine the size, shape and number of a person's chromosomes. This test will detect a missing or altered X chromosome that causes Turner syndrome.

Sometimes Turner syndrome is diagnosed before birth. This usually happens incidentally because doctors were testing a fetus for unrelated reasons. Sometimes, a routine fetal ultrasound called a sonogram may show abnormalities that are associated with Turner syndrome like kidney abnormalities or congenital heart defects.

After a diagnosis of Turner syndrome is made, doctors may run additional tests to see how Turner syndrome is affecting an individual. They may run tests to evaluate the heart, kidneys, ears, eyes, and other organs commonly affected by Turner syndrome. These tests can include advanced imaging (x-ray) techniques like magnetic resonance imaging or ultrasound.

References
  • Turner Syndrome. Merck Manual Professional Edition website. http://www.merckmanuals.com/professional/pediatrics/chromosome-and-gene-anomalies/turner-syndrome
  • Backeljauw P. Clinical manifestations and diagnosis of Turner syndrome. UpToDate Inc. website. http://www.uptodate.com/contents/clinical-manifestations-and-diagnosis-of-turner-syndrome
  • Learning About Turner Syndrome. The National Human Genome Research Institute website. https://www.genome.gov/19519119/
Who else in my family should I test for Turner syndrome?

Turner syndrome is caused by a change in a chromosome. Most girls have are missing part or all of one of their two X chromosomes in all or some of the cells of the body. The loss of all or part of the X chromosome almost always occurs randomly as a spontaneous event and is not inherited. The likelihood of parents with a child with Turner syndrome having another child with the disorder is no different from what it is for any other couple, which is very unlikely. Families can get a child tested for Turner syndrome if they have concerns through a simple blood test that evaluates the size, shape and number of chromosomes. This test is called karyotyping and can detect an altered or missing X chromosome.

References
  • Turner Syndrome. Stanford Children's Health website. http://www.stanfordchildrens.org/en/topic/default?id=turner-syndrome-90-P02421
  • Backeljauw P. Clinical manifestations and diagnosis of Turner syndrome. UpToDate Inc. website. http://www.uptodate.com/contents/clinical-manifestations-and-diagnosis-of-turner-syndrome
Can Turner syndrome be detected before birth?

Turner syndrome can be diagnosed before birth. This is called prenatal diagnosis. This usually happens incidentally because doctors were testing a fetus for unrelated reasons. Sometimes, a routine fetal ultrasound may show abnormalities that are associated with Turner syndrome like kidney abnormalities or congenital heart defects. A fetal ultrasound, also called a sonogram, is a specialized imaging (x-ray) technique that uses high-frequency sound waves to create a picture of the developing fetus.

Prenatal testing can also be done by studying fetal cells. A sample of tissue for testing can be taken from the placenta. This test is called chorionic villus sampling. Another test is called amniocentesis, which involves taking a sample of the amniotic fluid that surrounds and protects a developing fetus. Cells known as amniocytes are taken from the fluid and studied. The cells are studied to determine the makeup of the chromosomes and will show an altered or missing X chromosome. There are risks for such procedures.

Talk to your doctor or a genetic counselor in your area to discuss the risks and benefits of prenatal diagnosis. To find a genetic counselor near you visit www.nsgc.org.

References
  • Turner Syndrome. The National Organization for Rare Disorders website. https://rarediseases.org/rare-diseases/turner-syndrome/
  • Backeljauw P. Clinical manifestations and diagnosis of Turner syndrome. UpToDate Inc. website. http://www.uptodate.com/contents/clinical-manifestations-and-diagnosis-of-turner-syndrome
  • Turner Syndrome. Stanford Children's Health website. http://www.stanfordchildrens.org/en/topic/default?id=turner-syndrome-90-P02421

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