For those of you planning a baby or expecting one in the coming months, it is important to understand the various potential genetic deformation that can occur in infants. Most of these defects are unlikely, however, it is better to be informed than to be overwhelmed when the time comes. In this article, we focus on Edwards Syndrome, a genetic defect otherwise known as trisomy 18. This is a defect that is present at birth and affects approximately one in every five thousand children.
What Causes Edwards Syndrome?
In medical terms, the cause for Edwards Syndrome is due to a third copy or partial copy of chromosome 18 being present within a newborn baby. This is often a result of issues during the forming of the reproductive cells during the baby’s development.
The reasons that this often occurs tend to be based on the age of the mother. As with older mothers, the likelihood of Edward’s Syndrome being present in the newborn rises drastically. Aside from this, some cases are hereditary and passed down from the grandparents of the newborn child.
What are the Symptoms of Edward’s Syndrome?
When a child is born with Edward’s Syndrome, the symptoms are often quite prominent. A child with this defect will often have a smaller head and jaw than normal infants and the baby will have clenched fists with overlapping fingers. Plus, if the baby remains healthy, they will grow up with a noticeable intellectual disability. Other symptoms include kidney malformations, heart defects, protruding intestines, a growth deficiency, and a muscle disorder called arthrogryposis.
Why is This Defect Called Edwards Syndrome?
The defect was discovered and then named after John Hilton Edwards. He first described this phenomenon in 1960.
How Serious is Edward’s Syndrome?
Edward’s Syndrome can be a very serious defect in young children. Statistically, only 5-10% of infants with this defect live past one-year-old, with 95% of these affected not resulting in a live birth. Plus, those that do will have to learn to live with a serious intellectual disability and will also be prone to heart concerns throughout their lives. This is the second most common chromosome related defect in newborns, second only to Down’s Syndrome.
Can Edward’s Syndrome be Diagnosed During Pregnancy?
Yes, Edwards syndrome can often be diagnosed during pregnancy with the help of two medical procedures. The most common is an ultrasound where the physician may spot signs of Edward’s Syndrome. Then the physician will aim to confirm these suspicions through a method called amniocentesis. This is where amniotic fluid is sampled from the Amniotic sac and this is studied to determine a clear result.