How to Diagnose Turner Syndrome

With an incidence of approximately one case per 2,500 female births, Turner syndrome is a relatively rare genetic chromosomal disorder that affects only girls. It is characterized by the presence of only one fully functional X chromosome, resulting in underdeveloped sex characteristics and other mental and physical developmental abnormalities. While most of the condition's effects are harmless, girls with Turner syndrome are at increased risk for developing congenital heart defects. Read on to learn how to diagnose Turner syndrome.

Instructions

• 1

  Be aware that about 98 percent of pregnancies involving a fetus with Turner syndrome end in miscarriage. Miscarriage will be spontaneous and unavoidable. Some estimates suggest that Turner syndrome may account for as many as 10 percent of all miscarriages in the United States each year.

• 2

  Know that the risk factors for Turner syndrome are poorly understood. While the condition is genetic in origin, there is no reliable process through which parents or prospective parents can be screened to determine if their daughter will be at increased risk for Turner syndrome.

• 3

  Have a pre-natal screening for Turner syndrome performed to diagnose the condition before the birth of your daughter. An amniotic fluid test (also called "amniocentesis"), which samples the liquid surrounding the fetus in the womb, screens for genetic evidence of Turner syndrome. Amniocentesis is typically performed between the fifteenth and twentieth weeks of pregnancy.

• 4

  Diagnose Turner syndrome in a newborn baby girl by having a blood test called a "karyotype" performed. This blood test will screen for the composition of the girl's chromosomes, identifying if only one fully functional X chromosome exists. It is the most common test used to diagnose Turner syndrome and has the highest accuracy rate.

• 5

  Recognize the developmental symptoms of Turner syndrome, if the disorder was not found at birth. A girl who is unusually short, displays swelling of the hands and feet, has a webbed neck, droopy eyes or a low hairline may have Turner syndrome. If these symptoms appear in combination with the absence of a menstrual cycle and/or increased weight/obesity, then you should have your daughter tested for Turner syndrome. The karyotype test is used to detect Turner syndrome in growing or grown patients.