Trisomy 18 (which is also known as Edwards syndrome) is one of the medical abnormalities caused by the extra presence and state of chromosomes in the body cells. Specifically, Trisomy 18 has to do with chromosome 18. More about Trisomy 18 will be discussed in this article. So, read on to be well informed.
An Overview of Trisomy 18
Cells in the body have different DNA molecule structures known as chromosomes. However, every chromosome that makes up part of body cells is supposed to have a definite number. In the case of chromosome 18 and several others, only two copies are supposed to be present.
Having extra (three) is what causes Trisomy 18. Edwards syndrome is so rare that approximately; only a person in 5000 people have it. For the record, having three instead of the normal two is also what causes Trisomy 21 and 13.
Trisomy 18 happens as babies are formed in the womb. As a result, timely diagnosis can reveal it during pregnancy. Because of the fetal complications caused by Trisomy 18, it is common for affected fetuses not to survive till birth as babies. More often than not, a baby that makes it till birth only lives a few days or months.
Many affected children that overcome these hurdles will still not survive past their first year. In essence, just a small number of children with Trisomy 18 survive to a very ripe age. Even at that, the defects caused by Edwards syndrome remain.
One of the reasons is those crucial body organs formed before and after an affected child is born are adversely affected. The heart is a good example.
Forms of Trisomy 18
There are various ways Trisomy 18 can play out. This is what determines how severe or mild the Edwards syndrome condition will be. The forms of this genetic condition include:
Mosaic Trisomy 18
People with this form of Edwards syndrome only have the extra chromosome 18 in some (and not all) of their body cells. The population of cells that have this extra chromosome 18 is what determines how serious this genetic medical condition will be.
For the record, stats have shown that about 1 in every 20 people with this genetic health condition has mosaic Trisomy 18.
Partial Trisomy 18
There is a part of chromosome 18 that is called the q arm. Normally, it stays intact without extending to other chromosomes in the body. The abnormal possibility of its extension to other chromosomes causes Trisomy 18.
But the extent of its extension also matters. This is because it determines the extent of the health problems it causes. This sort of Edwards syndrome is called partial Trisomy 18.
Can Trisomy 18 Be Treated?
There is no treatment for Edwards syndrome. At least, that is the state of things at the time of writing this article. However, there is specialized medical care that will help affected infants and their families. The special medical care will support by offering information on how to manage the symptoms.
Finding Out About Trisomy 18 on Time
It is important that proper screening and testing are done during pregnancy. Amongst other things, this will reveal the rare possibility of having infants with this or any other genetic disorders. This can also help you know what you can and cannot take while pregnant.
A child does not have to be born before Edwards syndrome is discovered. The condition can be diagnosed by observing the fetal conditions in the womb. So, appropriate tests should be carried out on time.
People with this rare genetic condition should not be stigmatized. It takes so much to live their lives. So they need all the support they can get. For this reason, life should be made as easy as possible for them.
It is also important that people know Trisomy 18 (or Edwards syndrome) is not a disease but a genetic condition. To know about other genetic disorders like Trisomy 18, you can check out the welfare section of the International Health Alliance platform.