Edwards Syndrome (Trisomy 18): Symptoms, Causes, Treatment

What are the symptoms of Edwards syndrome?

Edwards syndrome, also known as trisomy 18, is a genetic disorder caused by the presence of an extra copy of chromosome 18. It is associated with a range of physical and developmental abnormalities. The symptoms of Edwards syndrome can vary widely from person to person, but common features may include:

Low birth weight: Babies with Edwards syndrome are often born smaller than average.
Growth delays: Children with Edwards syndrome may have delays in physical growth and development.
Characteristic facial features: These may include a small jaw, low-set ears, clenched fists with overlapping fingers, and a smooth forehead with a small head (microcephaly).
Heart defects: Many babies with Edwards syndrome have heart defects, which can range from mild to severe.
Kidney problems: Kidney abnormalities are common in Edwards syndrome and can affect kidney function.
Intellectual disabilities: Children with Edwards syndrome often have intellectual disabilities and may have delayed development of motor skills and speech.
Feeding difficulties: Babies with Edwards syndrome may have difficulty feeding, which can lead to poor growth and weight gain.
Respiratory problems: Children with Edwards syndrome may have breathing problems, including apnea (pauses in breathing) and difficulty breathing.
Scoliosis: A curvature of the spine (scoliosis) is common in children with Edwards syndrome.
Increased risk of infections: Children with Edwards syndrome may be more susceptible to infections due to a weakened immune system.
Hernias: Inguinal hernias, where tissue protrudes through a weak spot in the abdominal muscles, are more common in children with Edwards syndrome.

It’s important to note that not all children with Edwards syndrome will have all of these symptoms, and the severity of symptoms can vary. Edwards syndrome is a serious condition, and most babies born with this condition have a significantly shortened lifespan. Treatment focuses on managing symptoms and providing supportive care.

What are the causes of Edwards syndrome?

Edwards syndrome, also known as trisomy 18, is caused by the presence of an extra copy of chromosome 18 in some or all of the body’s cells. Normally, each cell in the body has 23 pairs of chromosomes, including one pair of sex chromosomes (XX in females and XY in males), for a total of 46 chromosomes. In individuals with Edwards syndrome, there is an extra copy of chromosome 18, resulting in a total of 47 chromosomes.

The presence of an extra chromosome 18 disrupts the normal development of the fetus, leading to the characteristic features and health problems associated with Edwards syndrome. The extra chromosome is usually a result of a random error in the division of the parent’s reproductive cells (egg or sperm) or during early cell division in the embryo.

The risk of having a child with Edwards syndrome increases with maternal age, especially in women over 35 years old. However, most cases of Edwards syndrome occur in women under 35, as they tend to have more children than older women. The risk also increases in women who have previously had a child with trisomy 18. It’s important to note that Edwards syndrome is not inherited; it occurs randomly and is not usually passed down from parents to their children.

How is Edwards syndrome diagnosed?

Edwards syndrome, also known as trisomy 18, is typically diagnosed through prenatal screening tests or diagnostic tests after birth. Here are some common methods used to diagnose Edwards syndrome:

Prenatal screening tests:

Ultrasound: An ultrasound scan can detect certain physical abnormalities associated with Edwards syndrome, such as heart defects, kidney problems, and structural abnormalities. However, ultrasound alone cannot definitively diagnose Edwards syndrome.
Maternal serum screening: This blood test measures levels of certain substances in the mother’s blood, such as alpha-fetoprotein (AFP), human chorionic gonadotropin (hCG), and unconjugated estriol (uE3). Abnormal levels of these substances may indicate an increased risk of chromosomal abnormalities, including Edwards syndrome.
Non-invasive prenatal testing (NIPT): NIPT analyzes cell-free DNA fragments from the fetus that circulate in the mother’s bloodstream. This test can detect an increased risk of chromosomal abnormalities, including trisomy 18, with a high degree of accuracy. However, it is not considered a diagnostic test and may require confirmation with invasive diagnostic testing.

Diagnostic tests:

Amniocentesis: During this procedure, a small sample of amniotic fluid is collected from the uterus using a needle inserted through the mother’s abdomen. The cells in the amniotic fluid are then analyzed to determine the baby’s chromosomal makeup. Amniocentesis is considered the gold standard for diagnosing chromosomal abnormalities, including Edwards syndrome.
Chorionic villus sampling (CVS): CVS involves taking a small sample of cells from the placenta for chromosomal analysis. Like amniocentesis, CVS can diagnose chromosomal abnormalities, including trisomy 18, with a high degree of accuracy. However, CVS carries a slightly higher risk of miscarriage compared to amniocentesis.

After birth, a diagnosis of Edwards syndrome may be suspected based on the baby’s physical features and confirmed through chromosomal analysis using a blood sample. It’s important to note that not all babies with Edwards syndrome will have the same physical features, and some may have mild symptoms that are not immediately apparent.

What is the treatment for Edwards syndrome?

Edwards syndrome, also known as trisomy 18, is a genetic disorder that affects many parts of the body and is associated with severe developmental delays and health complications. Unfortunately, there is no cure for Edwards syndrome, and the treatment is focused on managing the symptoms and providing supportive care to improve the quality of life for affected individuals.

Treatment for Edwards syndrome may include:

Supportive care: This involves managing the symptoms and complications associated with Edwards syndrome to improve the individual’s comfort and quality of life. This may include medications to manage pain, respiratory support, and nutritional support.
Surgery: Some infants with Edwards syndrome may benefit from surgery to correct certain physical abnormalities, such as heart defects or gastrointestinal issues. However, surgery is often considered on a case-by-case basis, taking into account the overall health and prognosis of the infant.
Physical therapy: Physical therapy can help improve muscle tone and strength, as well as mobility, in individuals with Edwards syndrome. It can also help prevent or manage contractures (shortening of muscles) and improve overall function.
Occupational therapy: Occupational therapy can help individuals with Edwards syndrome develop skills needed for daily activities, such as feeding, dressing, and grooming.
Nutritional support: Some individuals with Edwards syndrome may have difficulty feeding due to oral motor issues or other complications. Nutritional support, such as feeding tubes, may be necessary to ensure adequate nutrition.
Palliative care: For individuals with severe health complications or a poor prognosis, palliative care may be provided to manage symptoms, improve quality of life, and provide emotional support to the individual and their family.

It’s important for individuals with Edwards syndrome to have regular medical follow-ups to monitor their health and address any new or worsening symptoms. The prognosis for individuals with Edwards syndrome varies depending on the severity of their symptoms and health complications. Many infants with trisomy 18 do not survive beyond the first year of life, but some may live into childhood or adolescence with supportive care.

What is the life expectancy for Edwards syndrome?

Edwards syndrome, also known as trisomy 18, is a rare genetic disorder caused by an extra copy of chromosome 18. The life expectancy for individuals with Edwards syndrome varies greatly depending on the severity of the condition and the presence of associated birth defects.

On average, only about 5-10% of individuals with Edwards syndrome live to adulthood. Many individuals with the condition are born prematurely and may die shortly after birth due to severe physical abnormalities and organ malformations. However, some individuals may survive into childhood and adolescence.

According to the National Organization on Rare Disorders (NORD), the median life expectancy for individuals with Edwards syndrome is around 6-12 months. However, with advances in medical care and technology, some individuals with mild cases may live longer, up to 10-15 years or more.

The life expectancy for individuals with Edwards syndrome also depends on the severity of their symptoms and the presence of associated health problems, such as:

Heart defects: Individuals with severe heart defects may have a shorter life expectancy.
Respiratory problems: Breathing difficulties can be a significant challenge, and those with severe respiratory problems may have a shorter life expectancy.
Intellectual disability: The severity of intellectual disability can impact an individual’s ability to adapt to daily living and increase their risk of complications.
Feeding difficulties: Difficulty eating and digesting food can lead to malnutrition and other health issues, which can affect life expectancy.
Skeletal abnormalities: Severe skeletal abnormalities, such as clubfoot or joint contractures, can limit mobility and increase the risk of complications.

It’s essential to note that every individual with Edwards syndrome is unique, and their life expectancy will depend on their specific condition and overall health. Medical professionals will work closely with families to provide individualized care and support to help manage symptoms and improve quality of life.