What is Trisomy 18 (Edwards Syndrome) Symptoms Diagnosis and Treatment

Edwards Syndrome, also known as Trisomy 18, is a rare genetic condition that affects children due to the presence of an extra copy of chromosome 18 in the body’s cells. This condition significantly impacts fetal development and leads to a range of physical and health-related problems that vary from one child to another.Although it is rare, Edwards Syndrome is considered one of the most common trisomy syndromes after Down Syndrome.In this Daleely Medical article, we’ll explore the causes of Edwards Syndrome, its symptoms, the various diagnostic methods, and the latest support and treatment options available.If you want to better understand this condition and its impact on children and their families, keep reading with us.

How does Edwards Syndrome happen?
It occurs when there’s an error in cell division during the formation of the egg or sperm, leading to the baby having three copies of chromosome 18 instead of the usual two. This extra copy affects the child’s development and health.

Is there a cure for Edwards Syndrome?
Unfortunately, there’s no definitive cure because it’s a genetic condition. However, doctors focus on treating the symptoms and improving the child’s quality of life as much as possible.

What’s the life expectancy for children with Edwards Syndrome?
Most children pass away within the first year of life. However, in rare cases, some live longer with continuous medical care and support.

Can Edwards Syndrome be prevented?
There’s no guaranteed way to prevent it. However, early screening during pregnancy can help parents make informed decisions.

Does Edwards Syndrome give children any special or supernatural abilities?
No, it causes health and developmental problems. There’s no scientific evidence linking it to any special powers or abilities.

Do children with Edwards Syndrome have a specific personality?
There’s no specific personality linked to the condition, but the child’s behavior may be affected by their health challenges.

Is Edwards Syndrome related to a specific place or time of pregnancy?
No, it can happen at any time and in any place, but the risk increases with the mother’s age.

Can the condition improve as the child grows older?
No, since it’s a genetic condition, it doesn’t improve over time. But medical care and support can help enhance the child’s quality of life.

Does Edwards Syndrome affect eye or hair color?
Not necessarily. Eye and hair color are mostly determined by regular genetic inheritance, not by the syndrome itself.

Can certain foods or drinks during pregnancy cause Edwards Syndrome?
No, it’s a genetic disorder not caused by diet. However, the mother’s overall health and nutrition are important for the baby’s development.

Can someone develop Edwards Syndrome later in life?
No, it is present from birth and caused by a genetic issue during early development.

Does Edwards Syndrome affect a child’s intelligence?
Yes, it usually impacts mental development and cognitive abilities, although the degree varies from child to child.

Does the syndrome affect a child’s sleep or dreams?
Sleep problems may arise from discomfort or pain, but there’s no strong evidence that it directly affects dreaming.

Do children with Edwards Syndrome have a sixth sense or special awareness?
No, there’s no scientific research that proves the existence of a “sixth sense” in children with the condition.

Does the syndrome affect the child’s food preferences?
The child may have difficulty eating or swallowing, which can influence their food preferences.

Can Edwards Syndrome make a child more sensitive to colors or sounds?
Some children may be more sensitive to bright colors or loud noises, but this isn’t exclusive to Edwards Syndrome and can happen in other conditions too.

Can it change the child’s voice or way of speaking?
Many children have difficulty speaking due to developmental delays, and their voice might sound different due to weak muscles or oral issues.

Does the syndrome affect the sense of touch or temperature sensitivity?
There’s no known direct impact, but some children might experience increased or decreased sensitivity due to nerve-related issues.

Can Edwards Syndrome cause a child to sleep in unusual or rare positions?
A child cannot sleep standing up, but they might sleep in unusual positions due to pain or muscle weakness.

Is the syndrome linked to DNA changes that affect thinking speed?
Yes, having an extra copy of chromosome 18 affects the child’s mental development and processing speed.

Can a child with Edwards Syndrome prefer certain types of music or nature sounds?
There’s no clear scientific evidence for this, but like any child, they have personal preferences for sounds and music.

Is there a connection between Edwards Syndrome and the dreams parents have during pregnancy?
Dreams experienced by parents during pregnancy are psychological and personal experiences. There is no medical evidence showing a direct link between these dreams and Edwards Syndrome. Such dreams often reflect anxiety or expectations but do not affect the child’s health or the presence of the syndrome.

Types of Edwards Syndrome (Trisomy 18) and Average Life Expectancy

Edwards Syndrome, or Trisomy 18, has three main types, each differing in severity and impact on the child:

Full Trisomy 18
This is the most common type, where an entire extra copy of chromosome 18 is present in all the child’s cells. Unfortunately, children with this type rarely live beyond their first year.
Partial Trisomy 18
In this rare type, only part of chromosome 18 is extra, often attached to another chromosome. Children with partial trisomy might live longer than those with full trisomy but still face health challenges.
Mosaic Trisomy 18
Here, only some of the body’s cells have the extra chromosome. The effects are usually milder. Most children with mosaic trisomy live at least a year, and some may reach early adolescence, though with physical and intellectual disabilities.

Average Life Expectancy of Children with Edwards Syndrome

Most children live between 3 days to 2 weeks after birth.
About 60% to 75% survive less than 24 hours.
A small percentage, roughly 5% to 10%, live beyond one year.

Can You Have Healthy Children After Having a Child with Edwards Syndrome?

Yes, most likely! Edwards Syndrome usually occurs due to a random error during egg or sperm formation, so it is typically not inherited. Therefore, the chance of having a healthy child after an affected child is very high.

However, in rare cases, the syndrome can recur, especially if there’s a hereditary factor or chromosomal abnormality involved.

How Long Do Patients with Edwards Syndrome Live?

Children with Edwards Syndrome generally have a short lifespan due to serious health complications affecting the heart, lungs, and brain. But survival varies by case:

Around 5% to 10% may live longer than a year.
Most pass away within the first weeks or months, especially in the first two to three months.
A large number of affected fetuses result in miscarriage or stillbirth.

Why Is Life Expectancy Short?

Severe heart and lung defects.
Brain and vital organ abnormalities.
Breathing and feeding difficulties.
Rarely, some live longer but with very poor health and require continuous medical care.

How Does Edwards Syndrome Affect the Child?

The impact varies depending on the type and severity of the syndrome. Children may face multiple health problems, delays in physical and mental development, and sometimes life-threatening complications.

It’s important to understand that Edwards Syndrome has different types, each affecting the child differently. Here’s a quick summary of the types again:

Full Trisomy 18: most severe, poor survival rate.
Partial Trisomy 18: milder than full, longer survival possible.
Mosaic Trisomy 18: mildest form, better chance of longer survival but with disabilities.

What is Edwards Syndrome (Trisomy 18)?

Edwards syndrome, or Trisomy 18, is a serious genetic condition that affects a child’s growth and development. The child has an extra copy of chromosome 18, which significantly disrupts normal growth. Babies with this condition are often born with low birth weight, multiple congenital health problems, and distinctive physical features that set them apart from other children.

Who Can Be Affected by Edwards Syndrome?

Any child can be born with this syndrome, as it usually happens randomly due to a mistake during cell division, not because it is inherited from the parents. However, the risk increases with the mother's age during pregnancy.

If a mother has had a baby with Edwards syndrome before, the chance of having another child with the same condition is very low — less than 1% — but careful medical monitoring is important.

How Common is Edwards Syndrome?

Edwards syndrome occurs in about 1 in every 5,000 to 6,000 live births. The rate is higher during pregnancy — roughly 1 in every 2,500 pregnancies — because many affected fetuses do not survive to birth due to miscarriage or stillbirth.

When Was Edwards Syndrome Discovered?

The syndrome was first identified in 1960 by John Hilton Edwards and his team, who noticed unusual health and developmental problems in a baby. They found the cause was an extra copy of chromosome 18 and named the condition “Trisomy 18” accordingly.

Is It Possible to Have Another Child with Trisomy 18 or 13?

If you have had a child with Trisomy 18 or 13, the chance of having another child with the same syndrome is very low (less than 1%). However, the risk slightly increases with the mother's age during pregnancy.

Why Are Genetic Tests Important?

When a child is diagnosed with Trisomy 18 or 13, genetic testing is performed to find the exact chromosomal abnormality. This helps doctors or genetic counselors determine whether the syndrome is due to a random error or a hereditary issue. This information is crucial to assess the risk of recurrence in future pregnancies.

How Does Edwards Syndrome Occur?

A normal human body cell contains 46 chromosomes (23 from the mother and 23 from the father).

Sometimes, an error occurs during the formation of the egg or sperm, resulting in an abnormal number of chromosomes.

In Edwards syndrome, the child has three copies of chromosome 18 instead of two, which greatly affects development.

Is Edwards Syndrome Hereditary?

Usually no. Edwards syndrome generally results from a random error during egg or sperm formation, not inheritance.

It is very rare for parents to have more than one child with the syndrome.

The risk increases slightly with maternal age.

Types of Edwards Syndrome (Trisomy 18)

Full Trisomy 18
This type accounts for about 94% of cases. The child has a full extra copy of chromosome 18 in every cell. These children usually suffer from severe health problems and developmental delays, significantly impacting their quality of life.
Mosaic Trisomy 18
In this type, the extra chromosome 18 is only present in some cells, not all. The severity depends on how many cells are affected and where they are in the body. If fewer cells have the extra chromosome, symptoms tend to be milder compared to full trisomy.
Partial Trisomy 18
This rare form means only a part of chromosome 18 is extra in the cells. Sometimes this part is attached to another chromosome (called a translocation). Partial trisomy can be hereditary in some cases, which influences symptom severity.

How Does Edwards Syndrome Affect the Child?

Most children experience significant delays in physical and mental development.

They may have various health issues including heart, lung, and muscle problems.

The risk of miscarriage is high early in pregnancy but decreases as pregnancy progresses.

Sometimes, stillbirth can occur due to complications.

The child’s lifespan and health status largely depend on the type and severity of the syndrome.

Symptoms of Edwards Syndrome (Trisomy 18)

During Pregnancy:

Very little fetal movement
Only one artery in the umbilical cord instead of two
Small placenta size
Congenital defects in the fetus
Excess amniotic fluid (polyhydramnios)
High risk of miscarriage or stillbirth in the first trimester

After Birth:

Limb abnormalities: clenched fists, underdeveloped thumbs, long overlapping fingers difficult to straighten, malformed feet often called “rocker-bottom feet” (curved sole)
Facial and head features: small head (microcephaly), small jaw (micrognathia), low-set ears, cleft palate
Internal organ defects: heart defects, kidney, stomach, intestine, and lung problems, sometimes intestines protrude outside the abdomen (omphalocele), abdominal wall defects
Growth delays: low birth weight, severe physical and mental developmental delays, slow growth
Breathing and crying difficulties: breathing problems, weak crying
Bone deformities: spinal curvature
Other health problems: recurrent lung and urinary infections, feeding difficulties

Life Expectancy of Children with Edwards Syndrome

Life expectancy is usually short due to severe health problems, especially in the heart, lungs, and brain.

Most affected children survive only a few days to weeks after birth.
Approximately 60% to 75% die within 24 hours.
A small percentage (5% to 10%) survive beyond one year.
Rarely, some may live into early adolescence but often with severe disabilities and continuous medical care needs.

Characteristics of Edwards Syndrome (Trisomy 18) After Birth

After your baby is born, you may notice clear signs and characteristics of Edwards syndrome, including:

Low muscle tone: The baby’s muscles are weak and less tense than normal (hypotonia).
Low-set ears: The ears are positioned lower on the head than usual.
Internal organ problems: Such as heart and lung abnormalities, which may be malformed or not function properly.
Overlapping fingers: Fingers may overlap each other, and sometimes the feet are twisted (clubfoot).
Small body size: The baby’s head, mouth, and jaw are smaller than normal.
Weak crying: The baby cries with a weak voice and has reduced response to sounds.
Delayed mental development: The child experiences severe learning and cognitive delays.

Severe Symptoms of Edwards Syndrome (Trisomy 18)

Because the bodies of children with Edwards syndrome do not develop normally, the health problems they face are severe and often life-threatening, such as:

Congenital heart defects: Heart problems present from birth that affect heart function.
Kidney diseases: Malformations or problems in the kidneys.
Breathing difficulties: Respiratory failure due to weak lungs or structural defects.
Digestive system issues: Problems with digestion and abdominal wall defects like hernias.
Scoliosis: Curvature of the spine.

Heart disease affects about 90% of children with Edwards syndrome and is the leading cause of early death, along with breathing problems.

How Is Edwards Syndrome (Trisomy 18) Diagnosed?

Edwards syndrome, or Trisomy 18, is a rare genetic condition causing serious health problems for the fetus or infant. Diagnosis can occur before or after birth through specialized tests.

1. Prenatal Diagnosis (Before Birth)

Ultrasound (Sonogram):
An obstetrician examines the fetus by ultrasound to detect signs suggestive of Edwards syndrome, such as:
- Growth retardation
- Heart defects
- Hand or foot abnormalities
- Abnormal skull or facial features
- Amount of amniotic fluid and placenta abnormalities
Maternal blood screening tests:
These analyze levels of certain hormones and proteins in the mother’s blood to estimate the risk of Edwards syndrome.
Genetic diagnostic tests:
More accurate tests to confirm diagnosis include:
- Amniocentesis: Sampling amniotic fluid to analyze fetal cells for an extra copy of chromosome 18.
- Chorionic Villus Sampling (CVS): Taking a small sample of placental tissue for chromosome testing.
- Non-invasive prenatal testing (NIPT): Analyzing fetal DNA fragments in the mother’s blood to detect chromosomal abnormalities like Edwards syndrome.

2. Postnatal Diagnosis (After Birth)

Clinical examination:
After birth, the doctor examines the baby for characteristic signs such as:
- Low birth weight
- Abnormal head and facial shape
- Hand or foot deformities
- Breathing difficulties
- Growth and developmental delays
Laboratory tests:
A karyotype test is done on the baby’s blood to confirm the presence of an extra chromosome 18, which provides the definitive diagnosis.

Tests That Diagnose Edwards Syndrome (Trisomy 18)

If Edwards syndrome is suspected in your fetus, the following tests may be performed during pregnancy and after birth for accurate diagnosis:

Amniocentesis:
Usually done between weeks 15 and 20 of pregnancy to analyze fetal cells from amniotic fluid.
Chorionic Villus Sampling (CVS):
Performed between weeks 10 and 13 to test placental cells.
Non-Invasive Prenatal Testing (NIPT):
Done after week 10, a safe blood test from the mother analyzing fetal DNA.
Postnatal echocardiogram:
Ultrasound of the baby’s heart after birth to check for heart defects associated with Edwards syndrome.

What to Expect If Your Child Has Edwards Syndrome (Trisomy 18)

Edwards syndrome is a complex genetic disorder. Unfortunately, there is currently no cure. Most pregnancies affected by this condition end in miscarriage or stillbirth, which is very common with this syndrome.

Pregnancy and Birth

Around 40% of babies with Edwards syndrome do not survive birth.
Of those born alive, about one-third are premature.
Survival rates:
- 60% to 75% survive the first week of life
- 20% to 40% survive beyond the first month
- Less than 10% live beyond their first year

After Birth

Babies with Edwards syndrome need immediate specialized medical care to address their symptoms and health problems.

Those with organ malformations or heart defects have higher risks and require close monitoring.

Life Beyond the First Year

Most children surviving past their first birthday are unable to walk or speak.

However, with family support and proper care, children can have the best quality of life possible despite significant challenges.

Is There a Treatment for Edwards Syndrome (Trisomy 18)?

Edwards syndrome results from a genetic error present in every cell, so there is no definitive cure or treatment.

What can be done:

Supportive care:
Aim to improve the child's quality of life as much as possible—support breathing, feeding, and treat health problems like heart or respiratory issues.
Medical treatments:
Some children may require surgeries (e.g., heart surgery) or specific treatments depending on their condition.
Psychological and family support:
Vital for the family to cope with the challenges, requiring understanding and patience.

Can Children with Edwards Syndrome Live Long?

Most children face major challenges surviving long-term. However, rare cases with proper medical care and continuous support may live longer and have a better quality of life.

Medical Specialists Involved in Care for a Child with Edwards Syndrome

Because Edwards syndrome affects multiple organs, a multidisciplinary medical team is crucial:

Pediatrician: Oversees general health and coordinates care.
Geneticist: Diagnoses the syndrome genetically and explains the condition and prognosis.
Pediatric cardiologist: Manages congenital heart defects.
Pediatric pulmonologist: Treats respiratory problems.
Pediatric surgeon: Performs necessary surgeries.
Physical therapist: Helps improve muscle strength and mobility.
Nutritionist: Manages feeding difficulties and nutrition.

If you have a child diagnosed with Edwards syndrome, working closely with a specialized healthcare team is essential to manage all aspects of the condition.

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