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What is Edwards' Syndrome?

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  • Written By: Mary McMahon
  • Edited By: Bronwyn Harris
  • Last Modified Date: 28 July 2014
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Edwards' Syndrome is a rare genetic disorder caused by irregularities with the 18th chromosomal pair, appearing in around one out of every 600,000 births. It is characterized by serious birth defects, with most infants dying within the first few months of life, since their bodies are so severely impaired. In some cases, Edward's Syndrome may be less severe because the chromosomal defect only appears in certain parts of the body, in a condition called mosaicism. Because the condition is so serious, the prognosis is generally very poor.

The condition was first identified in 1960 by John H. Edwards, after whom Edwards' Syndrome is known. It may also be known as trisomy 18, in a reference to the genetic defect which causes the condition, and the chromosome which it concerns. Like other chromosomal abnormalities, Edwards' Syndrome can be identified during routine prenatal testing, and it is not preventable; it is also not inherited, except in an instance where a parent carries a gene for translocation, which causes chromosomes to swap places.

There are several ways in which the chromosomal abnormality associated with Edwards' Syndrome can manifest. In all cases, the condition is a form of trisomy, meaning that there is an extra copy of the chromosome. In most cases, Edwards' Syndrome is a true trisomy, with the three copies of the 18th chromosome being attached to each other. This is the most severe form; many fetuses with true trisomy are spontaneously aborted by the mother's body very early on in the pregnancy.

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In some instances, the defect is a result of translocation, meaning that the extra chromosome is attached to another of the body's chromosomes. Translocation may result in a less severe case of Edwards' Syndrome, depending on the fetus' individual situation. Mosaicism, briefly mentioned above, is the least impairing form of Edwards' Syndrome, although it can still result in substantial problems.

Like other genetic disorders, Edwards' Syndrome is associated with serious developmental and mental delays. The nervous system and organs are usually severely impaired, with many birth defects appearing around the head and face. The child may have a misshapen or extremely small head, and he or she will experience frequent seizures and breathing problems as a result of the condition.

In most cases, only analgesia is offered to a child with Edwards' Syndrome. Although interventions such as surgery can be undertaken, most parents opt out of invasive and traumatic procedures, since the child will probably die anyway. Gentle care and pain management make the child's brief time on Earth more pleasant.

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Discuss this Article

pastanaga
Post 3

@umbra21 - This kind of fetal syndrome often takes away the ability of the child to develop normally mentally as well as physically.

I think that you are better off with an abortion if you have an embryo with this. I understand your argument, but really you could make that argument for all the embryos that won't come into being because the egg was never fertilized. The early fetus doesn't know it exists, not even close to the same level of an animal.

And yes, perhaps later on it might choose life, but that's again true of every egg that could be fertilized.

umbra21
Post 2

@irontoenail - To some extent I agree with you, or at least I don't disagree. I don't have anything against abortion in general.

But, I don't think a short life, filled with suffering is necessarily a life not worth living. We can't know that.

The same argument is made for animals when they are suffering, but I think it is usually more for the convenience of the owners that they are put down. Personally, I'd rather live as long as possible, even suffering, than have my life cut short on someone else's says so. Life is not something I believe you get a second chance at, so I want my one and only chance to continue as long as possible.

Of course, children with Edwards Syndrome usually die soon after birth anyway. But some of them live longer. I'm just not sure that their suffering is a good reason to stop them from being born.

irontoenail
Post 1

This is so incredibly sad. I think it's always tragic when a child dies young, but this seems to be even worse than usual, with the baby living just long enough for the parents to grow attached, but all the while knowing it will never survive to its first birthday.

This is the kind of syndrome that I think is absolutely worth testing for when the embryo is still in the womb and can be aborted without harming the mother. All that a child with this syndrome could experience in life is suffering. And its parents will suffer as well.

I know the argument goes that it should be up to God as to whether or not such children are born and then die, but I don't believe God micromanages like that. If he truly wants us to have free will, and yet be moral then I think in this kind of situation the moral thing to do is to reduce suffering as much as possible.

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