Tests and diagnosis

By Mayo Clinic Staff

If your family doctor or pediatrician suspects that your daughter has Turner syndrome, a lab test will likely be done to analyze your daughter's chromosomes using cells from a blood sample. The test results are a specialized image (karyotype) that enables a specialist to count and judge the condition of each chromosome in a sample.

Prenatal diagnosis

A diagnosis is sometimes made during fetal development. Certain features on an ultrasound image may raise suspicion that your baby has Turner syndrome or another genetic condition affecting development in the womb. Prenatal screening tests that evaluate the baby's DNA in the mother's blood (cell-free fetal DNA testing or noninvasive prenatal screening) may also indicate an increased risk of Turner syndrome.

Your pregnancy and childbirth specialist (obstetrician) may ask if you're interested in additional tests to make a diagnosis before your baby's birth. One of two procedures can be performed to test for Turner syndrome:

  • Chorionic villus sampling. This involves removal of a small piece of tissue from the placenta.
  • Amniocentesis. In this test, a sample of the amniotic fluid is taken from the uterus.

Discuss the benefits and risks of prenatal testing with your doctor.

Health care team

Because Turner syndrome can result in several developmental problems and medical complications, several specialists may be involved in screening for specific conditions, making diagnoses, recommending treatments and providing care.

This team may evolve as your child's needs change, and your family doctor or pediatrician can coordinate the care. Specialists on your care team may include some or all of these professionals:

  • Hormone disorder specialist (endocrinologist)
  • Heart specialist (cardiologist)
  • Specialist in women's health (gynecologist)
  • Specialist in skeletal disorders (orthopedist)
  • Ear, nose and throat (ENT) specialist
  • Dental specialist in correcting problems with the alignment of teeth (orthodontist)
  • Specialist in vision problems and other eye disorders (ophthalmologist)
  • Mental health provider, such as a psychologist or psychiatrist
  • Developmental therapist, who specializes in therapy to help your child develop age-appropriate behaviors, social skills and interpersonal skills
  • Special education instructors
  • Medical geneticist
Aug. 23, 2014