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Genetic counselling
Genetic counselling may be recommended for people who have a history of hereditary disorders. Find out when genetic counselling can be helpful and what to expect.
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Genetic carrier screening
Screening for carrier status is a blood test to see if you carry genes that are linked to certain health conditions. Learn more about this test here.
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What is a congenital disorder?
Congenital disorder, also known as congenital disease or birth defects, are conditions present from birth. Find out more about congenital disorders.
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Non-invasive prenatal testing (NIPT)
A non-invasive prenatal test (NIPT) is a sensitive test to screen for Down syndrome and some other chromosomal disorders early in pregnancy.
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Screening for Down syndrome
Down syndrome is a chromosomal disorder that affects 1 in 1,00 babies. Find out about the screening and diagnostic tests that can detect the condition.
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Amniocentesis
Amniocentesis is a diagnostic test, done during pregnancy, to assess whether the baby has an abnormality or serious health condition. Find out what’s involved.
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Prenatal screening (genetic screening in pregnancy)
Prenatal screening tests assess the chance of some medical problems your baby may have. Your healthcare provider can help decide if they're a good idea.
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Fragile X syndrome
People with Fragile X syndrome have intellectual disability, behavioural and learning challenges as well as certain physical characteristics.
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Prenatal screening and testing
Prenatal testing is available to check the health of your baby. It is your choice if you decide to have these tests and you should discuss your options with your doctor or genetic counsellor.
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What is Down syndrome?
Down syndrome is a condition caused by 3 copies of chromosome 21. People with Down syndrome may have physical and intellectual disabilities.
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