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Trisomy 18 (Edwards Syndrome)

Edwards Syndrome, also known as Trisomy 18, is a rare genetic disorder caused by abnormalities in the 18th chromosome.

What is Edwards Syndrome?

Edwards Syndrome, also known as trisomy 18, is a genetic condition where a baby is born with an extra copy of chromosome 18. This extra chromosome affects the baby's development, leading to various health issues and physical features like low birth weight, heart defects, and developmental delays.

What leads to a baby having Edwards Syndrome?

The main cause of Edwards Syndrome is the presence of an extra chromosome 18 in the baby's cells. This can happen randomly during the formation of the egg or sperm. A small percentage of cases are due to partial trisomy 18, where only a part of chromosome 18 is extra, which can vary in severity.

How do doctors find out if a baby has Edwards Syndrome?

Diagnosis can start with an ultrasound during pregnancy, which looks for signs of abnormal development. Further tests, such as amniocentesis or blood screenings, can confirm the condition by examining the baby's chromosomes.

Is there a cure or treatment for Edwards Syndrome?

There's no cure for Edwards Syndrome. Treatment focuses on managing symptoms and may include heart treatments, assisted feeding, and other supportive measures. Each child's needs are unique, and care is tailored to them.

What challenges do babies with Edwards Syndrome face?

Babies with Edwards Syndrome often have severe developmental delays and heart and lung issues and are at risk for various other health problems. Survival beyond the first year is rare, but some children may live longer with specialized care and support.

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