Down's Syndrome - What is it?

Down’s Syndrome was named after the British Doctor John Langdon Down, who was the first doctor to fully describe the syndrome in 1866. It is one of the most common chromosome abnormalities in humans, and happens when the baby develops an extra copy of one of their chromosomes. Humans develop with 23 pairs of chromosomes but, in the case of Down’s Syndrome, develop an extra copy of chromosome 21. According to the NHS, around 775 babies are born with the condition each year in England and Wales.

Down's Syndrome occurs randomly and there is no known cause. Occasionally, it is an inherited abnormality, but in most cases it is not. We do know, however, that older mothers carry a greater risk of having a baby with Down’s Syndrome. A 40-year old woman has around a one in 100 chance of having a baby with the condition, whereas a 20-year-old woman has around a 1 in 1,500 chance.

Every child is unique, but almost all will have some sort of learning disability and will be much more likely to suffer certain health issues. For example, around half of babies born with Down’s Syndrome also have some sort of heart disorder.  Every child’s development will vary greatly, and it’s impossible to tell at birth what the likely outcome will be of their learning disability.  

How is it diagnosed?

All pregnant women in England are offered a test between 10 and 14 weeks of pregnancy, which includes blood tests and an ultrasound test. This is to check for abnormalities. Since January this year, a new, highly accurate test for Down’s Syndrome has been recommended for use, called the non-invasive prenatal blood test (NIPT).

This test comes before the more invasive testing; amniocentesis or chorionic villus sampling, that was known to cause an increased risk of miscarriage. Now, only mothers who test positive in the NIPT will be recommended to follow up with an amniocentesis.

Many babies are not diagnosed until birth, and in the first instance because they exhibit certain characteristics common to Down’s Syndrome, such as:

  • Hypotonia, which is reduced muscle tone leading to floppiness.
  • Eyes that slant upwards and outwards.
  • A small mouth with a protruding tongue, which may mean that they have difficulty feeding.
  • A flat back of the head.
  • Below-average weight and length at birth

Whilst there are certain characteristic facial features typical to a Down’s Syndrome baby, but children will look like the mother and father just as any other child does.

Where to go for support

Children with Down’s Syndrome are achieving much more than ever before, thanks to the advice and support now available to parents from birth. Given the chance and the right support, children with Down’s Syndrome can go on to lead full lives; entering into jobs and relationships and living independently. What a Down’s Syndrome baby needs, just as any other baby, is to be part of a loving, healthy family.

EmbryoCare Future Family Insurance is a unique policy that provides expectant mothers with added assurance from the 20 week scan* through to their child's second birthday. EmbryoCare aims to ease the financial impact of unforeseen costs that can result from 14 covered conditions. Down's Syndrome cover can be purchased as an extra cost option.

*EmbryoCare's policy can be accessed following a clear 20 week scan.

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