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How is Down syndrome Diagnosed?

There are two types of prenatal tests that are used to detect Downsyndrome:

  • Screening tests - these estimate the risk that a foetus has Down Syndrome, therefore do not give a definitive diagnosis. They are used to help parents decide whether they want to have further diagnostic tests.
  • Diagnostic Tests - these can detect whether the foetus has Down syndrome. They are 99% accurate at detecting but are associated with a risk of miscarriage and other complications as they are performed inside the uterus.

After a child is born, if Down syndrome is suspected based on physical characteristics, a karyotype can be performed to confirm diagnosis. This involves a blood or tissue sample being stained to highlight chromosomes grouped by size, number and their shape.

Following a diagnosis and throughout the child's development a team of professionals will be involved in the child's care. Assessment to identify any difficulties associated with Down syndrome may be carried out by the following professionals:

  • Speech and language therapist
  • Occupational therapist
  • physiotherapists

To arrange an assessment with one of our therapists please contact us by emailing or calling 03300 886 693.

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