Edwards’ syndrome

Edwards’ syndrome

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:

Full form

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.

Mosaic form

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.

Partial form

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.

Why does Edwards’ syndrome happen?

Most cases result from a random change in the egg or sperm in healthy parents. This change is not caused by anything the parents did before or during pregnancy.

Effects of Edwards’ syndrome on pregnancy

Screening for Edwards’ syndrome

You’ll be offered screening for Edward’s syndrome when you’re between 11 and 14 weeks pregnant.

The screening test will show if your baby has a high or low chance of having Edwards’ syndrome.

If screening shows that there’s a high chance your baby has Edwards’ syndrome, you can choose to have a further diagnostic test if you wish.

No test can tell if your baby has full, mosaic or partial Edward’s syndrome or how they’ll be affected.

Risk of miscarriage and stillbirth

Around 7 in 10 (70%) of pregnancies diagnosed with Edwards’ syndrome from screening tests will end in miscarriage or stillbirth.

The risk of miscarriage decreases as the pregnancy progresses, but there’s still a risk of stillbirth.

Effects of Edwards’ syndrome on babies

If your baby is affected by Edwards’ syndrome, it is likely they will have associated health conditions (other conditions often found in babies with Edwards’ syndrome). Some of these may be serious. Exactly how your baby is affected will depend on the form of Edwards’ syndrome they have.

Babies with full form Edwards’ syndrome

Full form Edwards’ syndrome is considered to be a life-limiting condition. This means it can affect how long a baby can live.

Around 5 in 10 (52.5%) will live longer than 1 week. Around 1 in 10 (12.3%) will live longer than 5 years.

Babies born with full form Edwards’ syndrome will have a learning disability which may be severe. They’re also likely to have a wide range of health conditions, some of which can be serious. Statistically:

• around 9 in 10 (90%) will have heart issues
• 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 (shortening of muscle tissue that can cause a deformity)
• around 1 in 10 (10%) will have a cleft lip and/or palate

Babies with mosaic form and partial form Edwards’ syndrome

Currently we can’t predict how babies with mosaic or partial forms of Edwards’ syndrome will be affected. This is because it depends on:

• how many cells contain the extra chromosome (mosaic)
• how much of the extra chromosome they have (partial)

Some babies may have severe health problems like those seen in full form Edwards’ syndrome. Other babies may have much less serious health issues. There are even cases where the baby seems to have no health issues at all.

Many babies with the mosaic form of Edwards’ syndrome will have some form of learning disability and developmental delay (when a child takes longer to start doing certain activities, like walking and talking, than other children their age). 

The life expectancy for babies with mosaic or partial forms of Edwards’ syndrome is also very variable. Some will live long lives, while others will have a much shorter life expectancy.

Living with Edwards’ syndrome

Each child is unique, and Edwards’ syndrome will affect each child differently. Like all children they’ll have their own personalities, likes and dislikes, and things that make them who they are.

Babies with full form Edwards’ syndrome usually have a low birthweight and are considered “medically fragile”. This means they are at high risk of infections and complications that require treatment in hospital. They may also:

• have difficulty feeding and may need fed by a tube
• have difficulty breathing and have apnoea (pauses in their breathing)

Despite their complex needs, children with Edwards’ syndrome can make progress with their development, although slowly.

Many children are reported to be able to communicate their needs, show awareness of surroundings, and some can sit and stand supported. There are also cases of older children attending school.

Feedback from many parents suggests that children with Edwards’ syndrome have a good quality of life and are valued members of the family.

Congenital and rare condition register

Babies with Edwards’ syndrome are included in the secure congenital and rare condition (CARDRISS) register. The register is maintained by Public Health Scotland.

The register records how many babies have this condition, and some relevant personal information.

It’s also used to support the planning and improvement of health, care, and other public services.