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Tests and diagnosis
By Mayo Clinic staffIf your family doctor or pediatrician suspects that your daughter has Turner syndrome, he or she will order a laboratory test for analysis of your daughter's chromosomes. The test is usually performed with 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 the suspicion that your baby has Turner syndrome or another genetic condition affecting development in the womb. 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.
Health care team
Because Turner syndrome can result in several developmental problems and medical complications, a number of specialists will be involved in screening for specific conditions, making diagnoses, recommending treatments and providing care. This team will evolve as your child's needs change, and your family doctor or pediatrician will coordinate the care. Specialists in your care team may include the following professionals:
- Hormone disorder specialist (endocrinologist)
- Ear, nose and throat (ENT) specialist (otolaryngologist)
- Specialist in skeletal disorders (orthopedist)
- Heart specialist (cardiologist)
- Specialist in women's health (gynecologist)
- Mental health provider, such as a psychologist or psychiatrist
- Dental specialist in correcting problems with the alignment of teeth (orthodontist)
- Specialist in vision problems and other eye disorders (ophthalmologist)
- Developmental therapist, who specializes in therapy to help your child develop age-appropriate behaviors, social skills and interpersonal skills
- Special education instructors
- Learning about Turner syndrome. National Human Genome Research Institute. http://www.genome.gov/19519119. Accessed June 28, 2009.
- Hjerrild BE, et al. Turner syndrome and clinical treatment. British Medical Bulletin. 2008;86:77.
- Turner syndrome. National Institute of Child Health and Human Development. http://turners.nichd.nih.gov/clinical.html. Accessed June 28, 2009.
- Bondy CA. Care of girls and women with Turner syndrome: A guideline of the Turner Syndrome Study Group. Journal of Clinical Endocrinology and Metabolism. 2007;92:10.
- Loscalzo ML. Turner syndrome. Pediatrics in Review. 2008;29:219.
- Morgan T. Turner syndrome: Diagnosis and management. American Family Physician. 2007;76:405.
