Early diagnosis of Turner syndrome is important to help your daughter grow as normally as any other girl her age. The doctor will take a medical history and conduct a physical examination to identify any specific symptoms of this disease.
Before birth, foetal ultrasounds may not give an exact indication of Turner syndrome as many babies with this disorder may look the same as those without it. In fact, it is possible that no clear signs may be noticeable till your daughter reaches the age of puberty.
When Turner syndrome is suspected, a special blood test, called karyotype, is requested for diagnosing Turner syndrome. This is a very accurate test which involves counting the number of chromosomes in white blood cells and observing any abnormalities. Before birth, a sample of the amniotic fluid will be taken for this test.
Other tests may also be requested for further analysing how the body has been affected, such as ECG, ultrasound of the reproductive organs and kidneys, as well as MRI of the chest.
A number of specialists will be involved in the diagnosis and treatment of Turner syndrome, such as hormone disorder specialists, cardiologists, orthopaedist, psychologist dental specialist and clinical geneticist. The Children’s Hospital Service Line at The Aga Khan University Hospital is a multidisciplinary paediatric healthcare unit with various paediatric specialists your child may need to see for Turner syndrome. Our dedicated staff will guide you thoroughly from diagnosis to treatment and management of your daughter’s symptoms.