Edwards' syndrome (trisomy 18)
Edwards’ syndrome, also called trisomy 18, is a rare genetic condition that cannot currently be cured. It’s often diagnosed in pregnancy or soon after a baby is born.
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Edwards’ syndrome, also called trisomy 18, is a rare genetic condition that cannot currently be cured. It’s often diagnosed in pregnancy or soon after a baby is born.
Symptoms of Edwards’ syndrome
Newborn babies with Edwards’ syndrome may have some, or all, of the following symptoms:
- low birth weight
- ears in a low position on their head
- cleft lip or palate
- club foot
- problems with their heart, kidneys or spine
- problems with their breathing or digestion
Each person with Edwards’ syndrome is different, and there are also different types which can cause different symptoms.
Causes of Edwards’ syndrome
Edwards' syndrome (trisomy 18) is a genetic condition, caused by an extra chromosome in the body’s cells. With trisomy 18 there are 3 copies of chromosome 18 rather than the usual 2.
It's not possible to prevent Edwards' syndrome. It happens by chance and is not linked to anything you did before or during pregnancy.
Your chance of having a baby with Edwards' syndrome increases as you get older. There's also a small increased risk if you’ve already had a pregnancy or baby affected by Edwards’ syndrome.
Diagnosing Edwards' syndrome
Edwards' syndrome is usually screened for in pregnancy. It's also possible to test for it after your baby is born.
Screening for Edwards’ syndrome
If you’re pregnant, you’ll be offered a screening test to find out your chance of having a baby with Edwards’ syndrome.
At 10 to 14 weeks of pregnancy, you’ll be invited to a combined test. This is a combined blood test and ultrasound scan, sometimes called the 12-week scan.
If you missed your combined test or it was not possible to complete it, you should be offered a quadruple blood screening test. You can have this test between 14 and 20 weeks of pregnancy.
If screening finds something, you’ll be referred to a specialist and may be offered more scans and tests, such as non-invasive prenatal testing (NIPT), amniocentesis or chorionic villus sampling (CVS).
The amniocentesis and CVS tests will be able to tell you if your baby definitely has Edwards’ syndrome, and what this might mean for you and your baby.
It's your choice if you want to have any of these tests or not. They're the best way to find out if your baby could have Edwards' syndrome, but not everyone wants this information. Talk to your midwife about your options.
Types of Edwards' syndrome
There are 3 types of Edwards’ syndrome (trisomy 18):
- full trisomy 18 – the most common and most serious type
- mosaic trisomy 18 – a less common type, which may have less serious symptoms
- partial trisomy 18 – a very rare type, which may have less serious symptoms
Tests during pregnancy will not always be able to tell you what symptoms your baby will have. After your baby is born, you may be offered further tests to help you understand the type of Edwards’ syndrome they have.
Living with Edwards' syndrome
Although Edwards’ syndrome affects everyone differently, some types can cause more serious health conditions and affect how long a person born with Edwards' syndrome lives.
Most babies with full Edwards’ syndrome (full trisomy 18) die before or shortly after being born.
Babies born with mosaic or partial trisomy 18 may have fewer health symptoms, and some will grow up to become adults.
Everyone with Edwards' syndrome will have some level of learning disability and health challenges.
Some people will be more independent and be able to do things like get a job. Others might need more regular care.
But, like everyone, people with Edwards' syndrome have:
- their own personalities
- things they like and dislike
- things that make them who they are
Treatment for Edwards’ syndrome
There's currently no cure for Edwards' syndrome, but there are treatments and support to help children and adults with the condition have the best possible quality of life.
A range of healthcare professionals may be involved in your child's care. They'll help to create a care plan and advise you about which treatments are suitable for your child's specific needs.
Treatment and support may include:
- regular monitoring and treatment (including surgery) for heart problems, breathing problems and digestive issues
- physiotherapy, occupational therapy and speech therapy
- pain control and palliative care for more severe symptoms
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Discuss your symptoms and possible next steps for Edwards' syndrome (trisomy 18) with a doctor online.
