Edwards’ syndrome
Edwards’ syndrome
Overview
Edwards’ syndrome (also known as trisomy 18) is a genetic condition that begins to affect babies when they’re in the womb, and continues to impact their health throughout their life. It’s a rare but serious condition.
In the UK, around 3 in every 10,000 births are affected by Edwards’ syndrome.
What is Edwards’ syndrome?
When a baby is conceived (made), they inherit genetic material from both their parents. This genetic material is called a chromosome.
Humans normally have 23 pairs of chromosomes. In each pair, 1 of the chromosomes is inherited from the mother and 1 is inherited from the father.
If a baby has Edwards’ syndrome, they have inherited an extra copy of chromosome 18. This extra copy can be present in some or all of the baby’s cells and can lead to health problems for the baby.
There are 3 different forms of Edwards’ syndrome:
In full form Edwards’ syndrome, the baby has inherited a complete extra copy of chromosome 18. This extra copy is present in all of the baby’s cells.
Around 94% of babies born with Edwards’ syndrome have the full form of the syndrome.
In mosaic form Edwards’ syndrome, the baby has inherited a complete extra copy of chromosome 18, but the copy is only present in some of the baby’s cells.
In partial form Edwards’ syndrome, the baby has only inherited part of an extra copy of chromosome 18. This is a very rare form of Edwards’ syndrome.
Common Symptoms
Symptom information is not available for this condition yet.
⚠️ This symptom list is for educational purposes. Having these symptoms does not mean you have this condition. See a doctor for proper diagnosis.
Medicines Commonly Used
⚠️ These medicines are commonly used for confirmed diagnoses of this condition. This is NOT a recommendation or prescription. Treatment must be determined by your doctor.
No medicines have been linked to this condition yet.
Causes
Why does Edwards' syndrome happen?
In most cases, it happens because of a random change in the egg or the sperm, and this can occur even when both parents are completely healthy. Nothing the parents did before or during the pregnancy causes this change, so there is no reason to blame yourself.
How Edwards' syndrome can affect a pregnancy
Between 11 and 14 weeks of pregnancy, you will be offered a screening test for Edwards' syndrome. This test shows whether your baby has a high or low chance of having the condition.
If the result shows a high chance, you can choose to go ahead with a further diagnostic test if you wish.
If your result comes back as a very high chance, somewhere between "1 in 2" and "1 in 10", this may change what further screening options are open to you. That is because the NIPT test becomes less reliable once a very high chance result has already been found for Edwards' syndrome or Patau's syndrome. Your doctor or healthcare professional will sit with you and explain what your next options are.
It is worth knowing that no test available today can tell you in advance whether your baby has the full, mosaic or partial form of Edwards' syndrome, or exactly how they will be affected by it.
Sadly, around 7 in 10 (70%) of pregnancies where Edwards' syndrome is diagnosed through screening end in miscarriage or stillbirth.
As the pregnancy moves forward, the risk of miscarriage becomes lower, though some risk of stillbirth still remains.
How Edwards' syndrome can affect babies
If your baby has Edwards' syndrome, they are likely to have other health conditions alongside it, and some of these can be serious. How your baby is affected will depend on which form of Edwards' syndrome they have.
The full form of Edwards' syndrome is considered a life limiting condition, meaning it can shorten how long a baby is able to live.
Around 5 in 10 babies (52.5%) live longer than 1 week, and around 1 in 10 (12.3%) live longer than 5 years.
Babies born with the full form of Edwards' syndrome will have a learning disability, which may be severe, along with several possible health conditions, some of which can be serious. Based on the figures we have:
- around 9 in 10 (90%) will have heart problems
- around 5 in 10 (50%) will have seizures
- around 5 in 10 (50%) will have hearing loss
- around 5 in 10 (50%) will have joint contractures, which is a shortening of muscle tissue that can cause a deformity
- around 1 in 10 (10%) will have a cleft lip and/or palate
For babies with the mosaic or partial forms of Edwards' syndrome, it is currently not possible to predict how they will be affected. This depends on two things: how many of their cells contain the extra chromosome, in the mosaic form, and how much of the extra chromosome is present, in the partial form.
Some babies go on to have health problems as serious as those seen in the full form. Others have much milder issues, and there are even cases where the baby appears to have no health problems at all.
Many babies with the mosaic form will have some degree of learning disability and developmental delay, meaning they take longer than other children their age to reach milestones like walking and talking.
Life expectancy for babies with the mosaic or partial forms also varies a great deal. Some go on to live long lives, while others have a much shorter life expectancy.
Complications
Every child is different, and Edwards' syndrome affects each one in its own way. Like any child, they have their own personality, their own likes and dislikes, and their own qualities that make them who they are.
Babies born with full form Edwards' syndrome usually have a low birthweight and are considered medically fragile. This means they carry a high risk of infections and complications that need hospital treatment. They may also:
- have trouble feeding, and sometimes need to be fed through a tube
- have trouble breathing, including pauses in their breathing known as apnoea
Even with these complex needs, children with Edwards' syndrome can still develop and make progress, though usually at a slower pace.
Many parents report that their children can communicate their needs, show awareness of what's happening around them, and in some cases sit or stand with support. There are also older children who attend school.
Congenital and rare condition register
Babies with Edwards' syndrome are included in the secure congenital and rare condition register known as CARDRISS, which is maintained by Public Health Scotland.
The register keeps track of how many babies have this condition, along with some relevant personal information.
It also helps support the planning and improvement of health, care, and other public services.
Read more about CARDRISS.
Further information and support
You can find more information about Edwards' syndrome, including stories shared by parents of children with the condition, through SOFT UK (Support Organisation for Trisomy 13/18).
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