Diagnosing Turner Syndrome

Turner syndrome is a rare genetic condition that affects females. It occurs in about one in every 2,000-2,500 births. Researchers estimate that approximately 700,000 women and girls in the United States have Turner syndrome. Although there’s no cure for Turner syndrome, with regular checkups and ongoing medical care, it’s possible for girls and women with Turner syndrome to live active, independent lives. 

What Causes Turner Syndrome?

Male infants have an X and a Y chromosome, while female infants have two X chromosomes. Turner syndrome occurs if the second X chromosome is partially or completely deleted. Without the necessary genetic material, the female body is unable to grow and mature naturally. 

The severity of Turner syndrome varies from patient to patient and depends on the amount of genetic material missing. The condition was first described and documented by Dr. Henry Turner in 1938.

How is Turner Syndrome Diagnosed?

The diagnosis of Turner syndrome usually occurs during pregnancy, using a non-invasive prenatal test (NIPT). If your primary care physician or OB/GYN notices certain features during a prenatal ultrasound, such as a large collection of fluid on the back of the neck, they may recommend NIPT. During NIPT, your primary care physician or OB/GYN draws a sample of blood and sends it to a laboratory for further evaluation.

There are several other tests used to diagnose Turner syndrome prenatally, including:

• Chorionic villus sampling. During chorionic villus sampling, your OB/GYN or primary care physician takes a small sample of tissue from the developing placenta. The cell makeup of the placenta is identical to that of your growing baby. A genetic laboratory can evaluate this tissue sample for genetic abnormalities
• Amniocentesis. Amniocentesis involves your primary care physician or OB/GYN taking a sample of amniotic fluid from your uterus. As your baby grows, it sheds cells into the amniotic fluid. A genetics laboratory evaluates the fluid, looking for indications of Turner syndrome.

What Are The Symptoms of Turner Syndrome?

The symptoms of Turner syndrome vary. In some cases, the condition presents few obvious signs; other times, it affects growth and physical features right away. Early indications of Turner syndrome include:

• Heart abnormalities
• Abnormal kidneys
• Broad chest with widely spaced nipples
• Low-set ears
• Slowed growth
• Low hairline located near the back of the head
• Short fingers and toes

Many infants with Turner syndrome also have swollen hands and feet, as well as fingernails and toenails that are narrow and turned upward.

What Can I Do If My Child Is Diagnosed With Turner Syndrome?

Learning that your baby has Turner syndrome can come with a variety of questions. It is important to remember that Turner syndrome affects every child differently. 

Common complications associated with Turner syndrome include high blood pressure and heart problems, hearing and vision loss, learning disabilities, and skeletal issues. Your OB/GYN or general practitioner can refer you to a genetic counselor who can better explain the results of your test.