Healthdirect Free Australian health advice you can count on.

Medical problem? Call 1800 022 222. If you need urgent medical help, call triple zero immediately

healthdirect Australia is a free service where you can talk to a nurse or doctor who can help you know what to do.

beginning of content

Edwards syndrome (Trisomy 18)

6-minute read

Key facts

  • Edwards syndrome is a rare genetic condition.
  • It's caused when your baby has an extra copy of chromosome 18.
  • Edwards syndrome causes serious health problems and disabilities.

What is Edwards syndrome?

Edwards syndrome is a genetic condition that causes serious health problems and disabilities. It's caused by an extra copy of chromosome 18.

Edwards syndrome is very rare. About 1 in 5000 babies has Edwards syndrome.

Sadly, most babies with this condition die before or soon after birth.

What are the symptoms of Edwards syndrome?

Babies with Edwards syndrome may have:

  • problems gaining weight and growing
  • low muscle tone
  • an unusual-looking face and head
  • learning disabilities
  • unusual hands and feet with overlapping fingers and webbed toes
  • heart problems
  • kidney problems

CHECK YOUR SYMPTOMS — Use the Symptom Checker and find out if you need to seek medical help.

What causes Edwards syndrome?

Children with Edwards syndrome have 3 copies of part or all of chromosome 18. This is why it's also called trisomy 18. People who don't have this condition have 2 copies of chromosome 18.

It is usually caused by a change in the egg or sperm before the baby is conceived.

Types of Edwards syndrome

Full Edwards syndrome — is when your baby has an extra copy of chromosome 18 in all their cells.

Mosaic Edwards syndrome — is when your baby has an extra copy of chromosome 18 in some of their cells.

Other trisomy conditions

Other conditions caused by trisomy are:

  • Down syndrome — 3 copies of chromosome 21
  • Patau's syndrome — 3 copies of chromosome 13

How is Edwards syndrome diagnosed?

Edwards syndrome can be suspected or even diagnosed during pregnancy.

Sometimes the possibility of Edwards syndrome is raised at the 11 to 13-week pregnancy screening test. This is usually an ultrasound and blood test.

It's also possible to screen for Edwards syndrome through non-invasive prenatal testing (NIPT). This is a blood test taken from 10 weeks of pregnancy.

These tests can give an indication that Edwards syndrome is likely. However, the only definite way to diagnose Edwards syndrome is through genetic testing. This can be done during pregnancy using:

Both these tests have a very small risk of miscarriage. You can talk to your doctor or midwife about this.

If a diagnosis of Edwards syndrome is confirmed your doctor will talk to you about your options. This conversation will likely include a discussion about the possible termination of the pregnancy.

Sometimes, Edwards syndrome is not suspected during pregnancy, and is only discovered when your baby is born.

FIND A HEALTH SERVICE — The Service Finder can help you find doctors, pharmacies, hospitals and other health services.

How is Edwards syndrome treated?

There is no cure for babies with Edwards syndrome. Unfortunately, it's rare for a baby with full Edwards syndrome to survive their first year of life.

Babies with Edwards syndrome may need treatment in the neonatal intensive care unit. Palliative care treatment may be offered for some babies and children with this condition.

Most babies with Edwards syndrome live for only a few days or weeks after birth.

Specific treatment for Edwards syndrome focusses on health conditions, such as:

  • heart problems
  • breathing problems
  • infections

ASK YOUR DOCTOR — Preparing for an appointment? Use the Question Builder for general tips on what to ask your GP or specialist.

Can Edwards syndrome be prevented?

Edwards syndrome is a genetic disease, so can't be prevented.

The condition does not usually run in families. It's not caused by anything you have done.

Complications of Edwards syndrome

Edwards syndrome is linked to certain physical features and health problems.

All babies born with Edwards syndrome will have some level of learning disability.

Resources and support

Visit healthdirect's genetic disorders guide to learn more about genetic disorders and where to go for help and more information.

Visit the Pregnancy, Birth and Baby website for more information on prenatal screening.

You may want to contact Rare Voices Australia (RVA) — the national peak body for Australians living with a rare disease. Their RARE Helpline is available Monday to Friday from 9am to 5pm on 0499 549 629.

You can also call the healthdirect helpline on 1800 022 222 (known as NURSE-ON-CALL in Victoria). A registered nurse is available to speak with 24 hours a day, 7 days a week.

Learn more here about the development and quality assurance of healthdirect content.

Last reviewed: November 2023

Back To Top

Need more information?

These trusted information partners have more on this topic.

Top results

Trisomy 18 or Edwards syndrome | Raising Children Network

Trisomy 18 or Edwards syndrome is a chromosomal disorder that causes severe disability. Most babies with trisomy 18 die in the first weeks of life.

Read more on website

Trisomy disorders - Better Health Channel

Children affected by trisomy usually have a range of birth defects, including delayed development and intellectual disabilities.

Read more on Better Health Channel website

Maternal screening | Pathology Tests Explained

The maternal serum screening tests involve the measurement of different pregnancy-associated hormones, which are found in all pregnancies. 

Read more on Pathology Tests Explained website

Prenatal screening (genetic screening in pregnancy)

Prenatal screening tests assess the chance of some medical problems your baby may have. Your healthcare provider can help decide if they're a good idea.

Read more on Pregnancy, Birth & Baby website

Non-invasive prenatal testing (NIPT) | Pathology Tests Explained

There are DNA fragments circulating freely in our bloodstream (also known as cell-free DNA) which are released by cells during normal cell turnover. During p

Read more on Pathology Tests Explained website

Being pregnant after 40

Being pregnant is an exciting time. But when you’re over the age of 40, there are a few extra things you need to think about.

Read more on Pregnancy, Birth & Baby website

Non-invasive prenatal testing (NIPT)

A non-invasive prenatal test (NIPT) is a sensitive test to screen for Down syndrome and some other chromosomal disorders early in pregnancy.

Read more on Pregnancy, Birth & Baby website

Prenatal Screening for Chromosomal and Genetic Conditions

Our genetic material, or DNA, is organised into 46 packages called chromosomes. Some people are born with too many or not enough chromosomes, which can affect their health and learning. Smaller changes in the DNA can also occur within a chromosome, resulting in a variety of genetic conditions.

Read more on RANZCOG - Royal Australian and New Zealand College of Obstetricians and Gynaecologists website

Pregnancy - week by week - Better Health Channel

Pregnancy is divided into 3 trimesters and lasts around 40 weeks. Includes details of what happens each week from conception to birth, embryo size, baby development and where to get help.

Read more on Better Health Channel website

Healthdirect 24hr 7 days a week hotline

24 hour health advice you can count on

1800 022 222

Government Accredited with over 140 information partners

We are a government-funded service, providing quality, approved health information and advice

Australian Government, health department logo ACT Government logo New South Wales government, health department logo Northen Territory Government logo Queensland Government logo Government of South Australia, health department logo Tasmanian government logo Victorian government logo Government of Western Australia, health department logo

Healthdirect Australia acknowledges the Traditional Owners of Country throughout Australia and their continuing connection to land, sea and community. We pay our respects to the Traditional Owners and to Elders both past and present.