What Is Preimplantation Genetic Screening?
If we are going to go through the trouble of IVF treatments to get pregnant then having a preimplantation diagnosis screening done to be as sure as possible that we are going to have a normal pregnancy without genetic disorders being implanted as an embryo.
Who Should Have This Done?
There are several types of people who should have this done. The list below will describe people with various scenarios that will need to engage in preimplantation genetic screening.
• Women who have chromosome disorders and have had multiple miscarriages.
• People who carry disorders that are linked to sex
• People with chromosome disorders themselves
• People with single-gene defects
People who have these disorders and those who have had multiple miscarriages won't often realize that it is caused by a genetic disorder. It is more common than people think, it is just overlooked and many times ends up having miscarriage after miscarriage and never know why, can be an emotionally painful experience.
So How Is Preimplantation Genetic Screening Done?
This can be complicated and technical to explain, so we will put it in layman's terms and shorten it up a bit so you can get the concept and not have your head spinning. Basically cells are removed from the embryo and the DNA is then copied by a delicate and complicated process. When the DNA is copied it is just the same as passing your genes to your baby. The disorders they are looking for carry markers and when those markers show, they can tell the prospective parents what they are in danger of passing to their children.
So What Kind Of Disorders Does This Test Look For?
This test is a great benefit for everyone because it detects disorders that can make a real difference in both the lives of the family and the child. These disorders are ones you have commonly heard of and some you probably have not.
• Aneuploidy, translocation, and inversion deletions which are all rearrangements of chromosomes.
• Sickle cell anemia, cystic fibrosis, Tay-Sachs and Huntington Disease which are all single gene disorders.
• Rett syndrome, vitamin D resistant rickets which are all dominant sex-linked disorders
• Hemophilia, fragile X and neuromuscular dystrophy which are all recessive sex-linked.
What Are The Benefits Of This Test?
Because the test is done before you implant the egg, the mother does not have to have amniocentesis later on and will allow the parents to decide whether or not to continue the pregnancy which as you well know is a controversial issue.
What Are The Setbacks?
For people who believe that life begins at conception this can be a very daunting decision and also some carriers will reach middle age before any symptoms show up if they do at all. This is something that takes a lot of consideration by both parents and as preimplantation genetic screening can help you with making the right decision, it can also complicate an already complicated situation. However, for couples wanting to become parents, it is well worth the risk.
To learn more about PGS, please visit the following webpage:
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