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Trisomy 18 can be distinguished by low weight at birth, smaller, misshapen heads and faces, low-set ears, clenched fists with fingers overlapping each other, heart defects, and other organ failures.

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is a chromosome disorder characterized by having 3 copies of chromosome 18 instead of the usual 2 copies. Signs and symptoms include severe intellectual disability; low birth weight; a small, abnormally shaped head; a small jaw and mouth; clenched fists with overlapping fingers; congenital heart defects; and various abnormalities of other organs. Trisomy 18 is a life-threatening condition; many affected people die before birth or within the first month of life. Some children have survived to their teenage years, but with serious medical and developmental problems. Most cases are not inherited and occur sporadically (by chance).

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is a chromosome disorder characterized by having 3 copies of chromosome 18 instead of the usual 2 copies. Signs and symptoms include severe intellectual disability; low birth weight; a small, abnormally shaped head; a small jaw and mouth; clenched fists with overlapping fingers; congenital heart defects; and various abnormalities of other organs.

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The leading research for Trisomy 18 is heart surgery. Dr. Collins has done research that proves heart surgery can double the life span of someone with Trisomy 18 or 13

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It was once unusual for children with Down syndrome to have surgery to repair heart defects that are associated with the disorder. "Back in 1975, folks would've said there's nothing we can do to help those babies. But now people have proven if you do heart surgery early, patients with Down syndrome can live to adulthood and be active members of their community. The difference it makes for them is tremendous," says Stanford pediatric cardiologist Thomas Collins, MD.

Collins believes new research might also change attitudes about performing surgery for others who, like Down syndrome babies, are born with a third copy of a chromosome - in this case, babies with trisomy 13 or trisomy 18.

In a recent study published in Pediatrics, Collins and colleagues from the University of Arkansas for Medical Sciences showed that heart surgery can more than double the life spans of babies with trisomy 13, also called Patau syndrome, or trisomy 18, also called Edwards syndrome.

Birth defects and disabilities are far more severe in Patau and Edwards syndrome babies than they are in Down syndrome babies, who can live for many decades. Many Patau and Edwards syndrome babies die within hours or days of birth and most don't live past a year old.

Their heart conditions are often treated with standard medical care - blood pressure medication, ventilators and intravenous fluids. Surgery is rarely an option. "The thought has been it doesn't make sense to undertake a major heart surgery if the patient's death within a few months is a near certainty," Collins says.

Extending the lives of these babies means they still might not live past the age of 2, but even that improvement gives parents more time with their children and more options for care, Collins points out. It also gives specialists more time to develop treatments for other health issues, such as breathing difficulties.

For their study, researchers used data on nearly 1,600 trisomy 13 and 18 patients from 44 children's hospitals across the United States between 2004 and 2015. They found that heart surgery increased survival and hospital discharge on average from 33 percent to about 67 percent and that the benefit lasted through two years of follow-up, Collins says.

"Especially for trisomy 18, the number of babies that survive more than doubles after surgery," he says.

Most infants in the study were admitted at less than a day old, and 51 percent of infants in the study who had congenital heart defects died in the hospital or were discharged to hospice.

Collins says he hopes the research will change how doctors approach treating Patau and Edwards syndrome babies once heart issues are addressed. He says he plans to study more than 3,000 trisomy 13 and 18 patients to determine how their collective health problems fit together, with a goal toward creating a guideline for treatment priorities.

"Surgery gives parents the option to say, 'We're going to do everything we can for our baby,'" Collins says. "And, now we've shown that heart surgeries could allow parents to take their babies home from the hospital, and have them for two years or beyond, as opposed to two weeks."

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Heart surgery could help babies with trisomy 13 and trisomy 18 live longer

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It was once unusual for children with Down syndrome to have surgery to repair heart defects that are associated with the disorder. "Back in 1975, folks would've said there's nothing we can do to help those babies. But now people have proven if you do heart surgery early, patients with Down syndrome can live to adulthood and be active members of their community.

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Learning that your child has a Trisomy 18 diagnosis can be overwhelming and scary. Whether you're a parent of a child with Trisomy 18 or a family member or loved one, you face an uncertain future and have many, many questions. The Trisomy 18 Foundation is here to help you get the resources and answers you need to understand your child's diagnosis and make informed decisions about their health.
A diagnosis of Trisomy 18 starts a journey of uncertainty. We are here to walk that journey with you.

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Learning that your child has a Trisomy 18 diagnosis can be overwhelming and scary. Whether you're a parent of a child with Trisomy 18 or a family member or loved one, you face an uncertain future and have many, many questions.

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There is no cure for Trisomy 18, but there is treatment for the symptoms of the condition. The symptoms include heart conditions, breathing difficulties and infections.

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Edwards' syndrome, also known as trisomy 18, is a rare but serious condition.
Edwards' syndrome affects how long a baby may survive. Sadly, most babies with Edwards' syndrome will die before or shortly after being born.

A small number (about 13 in 100) babies born alive with Edwards' syndrome will live past their 1st birthday.

Cause of Edwards' syndrome

Each cell in your body usually contains 23 pairs of chromosomes, which carry the genes you inherit from your parents.

A baby with Edwards' syndrome has 3 copies of chromosome number 18 instead of 2. This affects the way the baby grows and develops. Having 3 copies of chromosome 18 usually happens by chance, because of a change in the sperm or egg before a baby is conceived.

Your chance of having a baby with Edwards' syndrome increases as you get older, but anyone can have a baby with Edwards' syndrome. The condition does not usually run in families and is not caused by anything the parents have or have not done.

Speak to a GP if you want to find out more. They may be able to refer you to a genetic counsellor.

Types of Edwards' syndrome

The symptoms, and how seriously your baby is affected, usually depend on whether they have full, mosaic, or partial Edwards' syndrome.

Full Edwards' syndrome

Most babies with Edwards' syndrome have an extra chromosome 18 present in all cells. This is called full Edwards' syndrome.

The effects of full Edward's syndrome are often more severe. Sadly, most babies with this form will die before they are born.

Mosaic Edwards' syndrome

A small number of babies with Edwards' syndrome (about 1 in 20) have an extra chromosome 18 in just some cells. This is called mosaic Edwards' syndrome (or sometimes mosaic trisomy 18).

This can lead to milder effects of the condition, depending on the number and type of cells that have the extra chromosome. Most babies with this type of Edward's syndrome who are born alive will live for at least a year, and they may live to adulthood.

Partial Edwards' syndrome

A very small number of babies with Edwards' syndrome (about 1 in 100) have only a section of the extra chromosome 18 in their cells, rather than a whole extra chromosome 18. This is called partial Edwards' syndrome (or sometimes partial trisomy 18).

How partial Edwards' syndrome affects a baby depends on which part of chromosome 18 is present in their cells.

Advice for new parents

There's support available for whatever you or your baby needs .

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

Edwards' syndrome is associated with certain physical features and health problems. Every baby is unique and will have different health problems and needs. They will usually have a low birthweight and may also have a wide range of physical symptoms. They may also have heart, respiratory, kidney or gastrointestinal conditions.

Despite their complex needs, children with Edwards' syndrome can slowly start to do more things.

Like any child they'll:

have their own personality

learn at their own pace

have things that are important and unique to them

Try not to think too far ahead and enjoy time with your baby.

Screening for Edwards' syndrome

If you're pregnant, you'll be offered screening for Edwards' syndrome between 10 and 14 weeks of pregnancy. This looks at the chance of your baby having the condition.

This screening test is called the combined test and it works out the chance of a baby having Edwards' syndrome, Down's syndrome and Patau's syndrome.

During the test you'll have a blood test and an ultrasound scan to measure the fluid at the back of your baby's neck (nuchal translucency).
Read more about screening for Edwards' syndrome at 10 to 14 weeks
If it's not possible to measure the fluid at the back of your baby's neck, or you're more than 14 weeks pregnant, you'll be offered screening for Edwards' syndrome as part of your 20-week scan. This is sometimes known as the mid-pregnancy scan. It's an ultrasound scan that looks at how your baby is growing.

Screening cannot identify which form of Edwards' syndrome your baby may have, or how it will affect them.
Read more about the 20-week scan
Diagnosing Edwards' syndrome during pregnancy

If the combined test shows that you have a higher chance of having a baby with Edwards' syndrome, you'll be offered a test to find out for certain if your baby has the condition.

This diagnostic test involves analysing a sample of your baby's cells to check if they have an extra copy of chromosome 18.

There are 2 different ways of getting this sample of cells:

These are invasive tests that increase your chance of having a miscarriage. Your doctor will discuss this with you.

Results from the diagnostic test

A specialist doctor (obstetrician) or midwife will explain what the screening results mean and talk to you about your options.

This is a very difficult situation and it's normal to feel a whole range of emotions. It may help to talk to your doctor, family and friends, or partner about what you're thinking and how you're feeling.

If you're told your baby has Edwards' syndrome, either before birth or afterwards, you'll be offered support and information.

You can visit the SOFT UK website for support and more information on Edwards' syndrome, and to contact other families affected by the condition.

You can also contact Antenatal Results and Choices (ARC), which has information about screening tests and how you might feel if you're told your baby does have, or might have, a problem.

ARC has a helpline that can be reached on 0845 077 2290, or 0207 713 7486 from a mobile, Monday to Friday, 10am to 5.30pm. The helpline is answered by trained staff, who can offer information and support.
Read more about what happens if antenatal screening tests find something

Diagnosing Edwards' syndrome after birth

If doctors believe your baby has Edwards' syndrome after they're born, a blood sample will be taken to see if there are extra copies of chromosome 18.

Treating Edwards' syndrome

There's no cure for Edwards' syndrome.

Treatment will focus on the symptoms of the condition, such as heart conditions, breathing difficulties and infections. Your baby may also need to be fed through a feeding tube, as they can often have difficulty feeding.

Edwards' syndrome has an impact on your baby's movements as they get older, and they may benefit from supportive treatment such as physiotherapy and occupational therapy.

Depending on your baby's specific symptoms, they may need specialist care in hospital or a hospice, or you may be able to look after them at home with the right support.

Advice for carers

Supporting someone with Edwards' syndrome can be both rewarding and challenging.

If you need help, or just want someone to talk to, there's lots of support available.

Your guide to social care and support provides lots of advice on how you can take time to look after yourself, including:

getting a break from caring

getting legal support and advocacy

taking care of your wellbeing

Speak to parents and families

It can help to speak to other parents and families who know how you're feeling.

You can do this by:

getting in touch with people on forums and social media

going to a support group - ask your midwife or health visitor about available support groups

Information about your baby

If your baby is found to have Edwards' syndrome before or after their birth, their clinical team will pass the information about them to the National Congenital Anomaly and Rare Disease Registration Service (NCARDRS).

This helps scientists look for better ways to treat the symptoms of the condition. You can opt out of the register at any time.
Find out more about the register at GOV.UK

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Edwards' syndrome, also known as trisomy 18, is a rare but serious condition. Edwards' syndrome affects how long a baby may survive. Sadly, most babies with Edwards' syndrome will die before or shortly after being born. A small number (about 13 in 100) babies born alive with Edwards' syndrome will live past their 1st birthday.

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Trisomy 18 occurs in about 1 in every 5,000 babies. The disease can be more common during development, but most don't make it to full term.

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Trisomy 18, also called Edwards syndrome, is a chromosomal condition associated with abnormalities in many parts of the body. Explore symptoms, inheritance, genetics of this condition.

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Trisomy 18 is not inherited from the parents, it is a genetic mutation that makes 3 copies of chromosome 18 instead of 2

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Trisomy 18 is a genetic disorder in which a person has a third copy of material from chromosome 18, instead of the usual 2 copies. Rarely, the extra material may be attached to another chromosome (translocation). Most cases are not passed down through families. Instead, the problems that lead to this condition occur in either the sperm or the egg that forms the fetus.

Causes

Trisomy 18 occurs in 1 in 6000 live births. It is 3 times more common in girls than boys.

The syndrome occurs when there is extra material from chromosome 18. The extra material affects normal development.

Trisomy 18: the presence of an extra (third) chromosome 18 in all of the cells.

Mosaic trisomy 18: the presence of an extra chromosome 18 in some of the cells.

Partial trisomy 18: the presence of a part of an extra chromosome 18 in the cells.

Most cases of Trisomy 18 are not passed down through families (inherited). Instead, the events that lead to trisomy 18 occur in either the sperm or the egg that forms the fetus.

Exams and Tests

An exam during pregnancy may show an unusually large uterus and extra amniotic fluid. There may be an unusually small placenta when the baby is born. A physical exam of the infant may show unusual facial features and fingerprint patterns. X-rays may show a short breast bone.

Chromosome studies will show trisomy 18. The chromosome abnormality may be present in every cell or present in only a certain percentage of the cells (called mosaicism). Studies may also show part of the chromosome in some cells. Rarely, part of the chromosome 18 becomes attached to another chromosome. This is called translocation.

Other signs include:

There are often signs of congenital heart disease, such as:

Tests may also show kidney problems, including:

Treatment

There are no specific treatments for trisomy 18. Which treatments are used depend on the person's individual condition.

Support Groups

Support groups include:

Support Organization for Trisomy 18, 13 and Related Disorders (SOFT): trisomy.org

Trisomy 18 Foundation: www.trisomy18.org

Hope for Trisomy 13 and 18: www.hopefortrisomy13and18.org

Outlook (Prognosis)

One half of infants with this condition do not survive beyond the first week of life. Nine out of ten children will die by 1 year of age. Some children have survived to the teenage years, but with serious medical and developmental problems.

Possible Complications

Complications depend on the specific defects and symptoms.

Complications may include:

Breathing difficulty or lack of breathing (apnea)

Deafness

Feeding problems

Heart failure

Seizures

Vision problems

When to Contact a Medical Professional

Genetic counseling can help families understand the condition, the risks of inheriting it, and how to care for the person.

Prevention

Tests can be done during pregnancy to find out if the child has this syndrome.

Genetic counseling is recommended for parents who have a child with this syndrome and who want to have more children.

Bacino CA, Lee B. Cytogenetics. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 98.

Madan-Khetarpal S, Arnold G. Genetic disorders and dysmorphic conditions. In: Zitelli BJ, McIntire SC, Nowalk AJ, eds. Zitelli and Davis' Atlas of Pediatric Physical Diagnosis. 8th ed. Philadelphia, PA: Elsevier; 2023:chap 1.

Version Info

Last reviewed on: 7/30/2021

Reviewed by: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

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Trisomy 18 is a genetic disorder in which a person has a third copy of material from chromosome 18, instead of the usual 2 copies. Rarely, the extra material may be attached to another chromosome (translocation). Most cases are not passed down through families.

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Edward's Syndrome, also known as Trisomy 18

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What are the symptoms of Edwards syndrome (trisomy 18)?

Symptoms of Edwards syndrome (trisomy 18) typically include poor growth before and after birth, multiple birth defects and severe developmental delays or learning problems. Symptoms are present during pregnancy and after your child is born.

Symptoms of Edwards syndrome (trisomy 18) during pregnancy

Your healthcare provider will look for signs of Edwards syndrome (trisomy 18) during a prenatal ultrasound, including:

Very little fetal activity.

A single artery in your umbilical cord.

A small placenta.

Birth defects.

Your fetus is surrounded by too much amniotic fluid (polyhydramnios).

An Edwards syndrome diagnosis can result in a live birth, but trisomy 18 most often causes a miscarriage during the first three months of pregnancy or the baby is stillborn.

Characteristics of Edwards syndrome (trisomy 18) after birth

After your baby is born, your child likely has physical characteristics of Edwards syndrome (trisomy 18), including:

Decreased muscle tone (hypotonia).

Low-set ears.

Internal organs forming or functioning differently (heart and lungs).

Issues with cognitive development (intellectual disabilities), which are typically severe.

Overlapping fingers and/or clubfeet.

Small physical size (head, mouth and jaw).

Weak cry and minimal response to sound.

Severe symptoms of Edwards syndrome (trisomy 18)

Because children diagnosed with Edwards syndrome (trisomy 18) have underdeveloped bodies, the side effects of the condition have serious and often life-threatening consequences, including:

Congenital heart disease and kidney disease (present at birth).

Breathing abnormalities (respiratory failure).

Gastrointestinal tract and abdominal wall issues and birth defects.

Issues relating to the heart affect nearly 90% of children diagnosed with Edwards syndrome (trisomy 18) and are the leading cause of premature death among infants who have the condition, next to respiratory failure.

What causes Edwards syndrome (trisomy 18)?

Having three copies of chromosome 18 instead of the typical two causes Edwards syndrome (trisomy 18).

All humans have 46 chromosomes that divide into 23 pairs. Chromosomes carry your DNA in cells, which tells your body how to form and function as its instruction manual. You receive one set of chromosomes from each of your parents.

When cells form, they start in reproductive organs as one fertilized cell (sperm in males and eggs in females). Cells divide (meiosis) to create pairs by copying themselves. The cell's copy contains half the amount of DNA as the original cell, 23 chromosomes from 46, and each chromosome pair has a number.

During egg and sperm formation when chromosome pairs are supposed to divide, there's a chance that a chromosome pair will not divide (as if they are too sticky) and both copies will be included in the egg or sperm. When fertilization happens, those two copies join one from the other parent so the result is three copies in total. The incorrect number of chromosomes is unpredictable and random and isn't the result of something the parents did before or during pregnancy.

When a third copy of a cell joins a pair, a trisomy occurs. Trisomy means "three bodies." If someone receives an Edwards syndrome diagnosis, they have a third copy of chromosome 18 in their cells.

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Edwards Syndrome (Trisomy 18): Genetic Condition, Symptoms & Outlook

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Edwards syndrome (trisomy 18) is a genetic condition where three cells attach to chromosome 18, causing growth delays that can be life-threatening.