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Search results for: "Genetic Diseases"

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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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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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Nuchal translucency scan

A nuchal translucency scan is an ultrasound scan that helps in work out your risk of having a baby with chromosomal abnormality like Down syndrome.

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Tongue-tie

Babies born with tongue-tie can’t move their tounge freely. Having tongue-tie can make feeding more difficult for your baby, but help is available.

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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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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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Screening for Down syndrome

Down syndrome is a common chromosomal disorder. Find out about the screening and diagnostic tests to detect the condition before your baby is born.

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Fifth disease (Slapped cheek disease)

Fifth disease or 'slapped cheek disease' is a mild viral illness marked by a red rash that makes children’s cheeks look like they’ve been slapped

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Coeliac disease in children

Coeliac disease is the immune system reacting to gluten, damaging the gut lining. Learn the symptoms and how to test your child to manage the disease.

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Congenital heart disease

Congenital heart differences or defects (CHD) are a group of different heart abnormalities that are present at birth.

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