What is Edwards Syndrome (Trisomy 18)

Edwards Syndrome is a chromosomal disorder caused by the presence of an extra (third) copy of chromosome 18. This extra genetic material disrupts the normal course of development, leading to a wide range of serious medical problems, including heart defects, developmental delays, and intellectual disability. Almost all babies with Edwards Syndrome die before or shortly after birth. Edwards Syndrome is a rare condition, affecting only about 1 in every 5,000 newborns. It occurs equally in boys and girls and is found in all ethnic groups. There is no cure for Edwards Syndrome, and treatment focuses on managing Edwards syndrome symptoms and supporting development.

Edwards Syndrome Symptoms

Most babies with Edwards Syndrome have a heart defect, often involving the valves or septum (the wall separating the left and right sides of the heart). Other common problems include kidney abnormalities, respiratory difficulties, and feeding issues. Babies with Edwards Syndrome often have a low birth weight and are small for their gestational age.

Most babies with Edwards Syndrome die before or shortly after birth from cardiac or respiratory failure. Those who survive beyond the first few weeks of life often have severe developmental delays and disabilities. 

Edwards Syndrome Causes

Edwards Syndrome is a chromosomal disorder caused by the presence of an extra (third) copy of chromosome 18. This extra genetic material disrupts the normal course of development, leading to a wide range of serious medical problems, including heart defects, developmental delays, and intellectual disability.

Types of Edwards Syndrome

Trisomy 18: This is the most common type, accounting for about 85% of all cases. In this form of the disorder, each cell in the body has an extra copy of chromosome 18.

Mosaic Edwards Syndrome: This is a less common form of the disorder, accounting for about 15% of all cases. In this form, some cells in the body have an extra copy of chromosome 18 while other cells have the normal two copies.

Partial Trisomy 18: This is the rarest form of the disorder, accounting for less than 1% of all cases. In this form, only a portion of chromosome 18 is duplicated.

Treatment for Edwards Syndrome Symptoms

Treatment options may include:

Surgery: Babies with heart defects may require surgery to repair the heart.

Medication: Babies with respiratory difficulties may require medication to help them breathe.

Feeding Support: Babies with feeding issues may need to be fed through a tube.

Developmental Therapy: Children with Edwards Syndrome may benefit from developmental therapies, such as occupational therapy or physical therapy.

Special Education: Children with Edwards Syndrome will likely need special education and other support services to help them reach their fullest potential.

Nutritional Guidelines for Edwards Syndrome Symptoms

• The child’s diet should be nutritionally adequate and balanced.
• No single food should be the main source of nutrients.
• The child’s diet should meet the recommended dietary allowances (RDAs) for energy and all essential nutrients, as outlined in the Dietary Reference Intakes (DRIs).
• The child’s diet should be safe and free of toxins.
• The child’s diet should promote growth and development.
• The child’s diet should promote a healthy body weight.
• The child’s diet should be appropriate for the child’s stage of development, activity level, and any special needs or medical conditions.

Diagnosis of Edwards Syndrome During Pregnancy

• If the results of the combined test show that there is a high risk that your baby has Edwards’ syndrome, you will need to have a diagnostic test to find out for sure. This is called chorionic villus sampling (CVS).
• CVS is a procedure that takes a tiny sample of the placenta. The sample is then tested for Edwards’ syndrome.
• CVS is usually carried out when you’re 10 to 14 weeks pregnant, but it can be done up to 20 weeks into the pregnancy.
• The patient is offered an amniocentesis if CVS isn’t possible or you don’t want to have it. Amniocentesis is a procedure that involves taking a sample of amniotic fluid. The fluid contains cells from your baby that can be tested for Edwards’ syndrome.
• It usually results in amniocentesis within two weeks.
• A diagnosis of Edwards’ syndrome can be devastating, and it’s important to remember that many babies who are diagnosed with the condition don’t survive.

Conclusion

After giving birth, OB/GYN or midwife will talk about any abnormalities discovered during the ultrasound. This is a highly delicate scenario and bound to experience a variety of emotions. It might be useful to discuss these things with your doctor, family, pals, or your spouse. They will be assisted and informed if the baby has Edwards’ syndrome before or after birth.