Edwards Syndrome, Causes, Signs and Symptoms, Diagnosis and Treatment.

Summary

Edwards syndrome, or trisomy 18, is a rare genetic disorder characterized by the presence of an extra chromosome 18, leading to severe medical issues. It occurs in about 1 in 5,000 live births, with a higher prevalence in females. Symptoms include low birth weight, craniofacial abnormalities, and developmental delays. Diagnosis typically involves screening during pregnancy, particularly for women over 35, followed by confirmatory tests like amniocentesis. While there is no cure, treatment focuses on supportive care to enhance quality of life. Most infants with full trisomy do not survive beyond the fetal stage, but some with mosaic trisomy may live into early adulthood.

Takeaways

• 😀 Edward syndrome, also known as trisomy 18, is a serious genetic disorder that affects babies and can lead to severe medical issues.
• 👶 Most babies with Edward syndrome die in the fetal stage or shortly after birth, with few surviving beyond one year.
• 🌸 Approximately 80% of babies who survive to birth with this syndrome are female.
• 🧬 Edward syndrome is caused by the presence of an extra chromosome 18, resulting in three copies instead of the usual two.
• 🔍 The extra chromosome typically arises randomly during reproductive cell formation or early development and is not inherited from parents.
• ⚖️ There are three types of trisomy 18: full trisomy (most common), partial trisomy (rare), and mosaic trisomy (some cells affected).
• 📏 Symptoms may include low birth weight, small jaw and mouth, cleft lip, heart defects, and developmental delays.
• 🩺 Pregnant women, especially those over 35, are offered screenings to assess the risk of having a baby with Edward syndrome.
• 🔬 Diagnostic tests like chorionic villus sampling and amniocentesis can confirm the condition but carry a risk of miscarriage.
• 💖 There is no cure for Edward syndrome; treatment focuses on supportive care to enhance the child's quality of life.

Q & A

What is Edwards syndrome?

Edwards syndrome, also known as trisomy 18, is a rare but serious genetic disorder in babies that leads to severe medical problems and is characterized by the presence of three copies of chromosome 18 instead of the usual two.

What is the survival rate for babies with Edwards syndrome?

The majority of babies with Edwards syndrome die within the fetal stage or shortly after birth. However, some babies with less severe forms may survive beyond a year, and very rarely, they may survive into adulthood, often with significant physical and mental disabilities.

What are some common physical abnormalities associated with Edwards syndrome?

Common physical abnormalities include low birth weight, a small jaw and mouth, cleft lip and palate, low-set ears, widely spaced eyes, and rounded soles on the feet, among others.

How does Edwards syndrome occur genetically?

Edwards syndrome occurs due to a random error during the formation of reproductive cells, leading to the presence of an extra chromosome 18. It is usually not inherited from parents.

What are the three types of trisomy associated with Edwards syndrome?

The three types are full trisomy, where the extra chromosome is present in every cell; partial trisomy, where only a portion of the extra chromosome is present; and mosaic trisomy, where the extra chromosome is present in some but not all cells.

What diagnostic tests are used to screen for Edwards syndrome during pregnancy?

Pregnant women are typically offered screening tests between 10 and 14 weeks of pregnancy, which include a combined test (blood test and ultrasound to measure fluid at the back of the baby's neck). If higher risk is indicated, diagnostic tests such as chorionic villus sampling or amniocentesis can be performed.

What are some potential risks associated with diagnostic testing for Edwards syndrome?

Diagnostic tests like chorionic villus sampling and amniocentesis carry a risk of miscarriage, which should be discussed with the doctor before proceeding.

What kind of treatment options are available for children with Edwards syndrome?

There is no cure for Edwards syndrome, and treatment options focus on supportive care to provide the best quality of life possible for the child.

What factors increase the risk of having a child with Edwards syndrome?

Women older than 30 years of age are at a greater risk of having a baby with Edwards syndrome, though younger women can also be affected.

How is the diagnosis of Edwards syndrome confirmed after birth?

After birth, doctors can suspect Edwards syndrome based on physical features and then confirm it by taking a blood sample to check for chromosomal abnormalities.