Researchers have developed a pre-conception blood test that will help identify if either of the parents carry a recessive trait for a heritable disease. Once that information is known, it will be much easier to figure out how big a risk it would be for that couple to pass on a disease that runs in their family onto their child. The couple can then make an informed decision about whether or not they should have children.
There are several genetic disorders that can be passed down from one generation to the next. If you have one of these diseases, then it is obvious that you could pass it on to any children that you have. People who have one of these types of diseases have inherited two recessive traits from their parents. This means that their child absolutely will receive one of those recessive traits from them. The question becomes: does their spouse also carry a recessive trait?
It is not easily observable if you happen to be carrying a recessive trait for the disease that runs in your family. You don’t have the disease, and don’t show any signs or symptoms of the disease, and yet, you could, potentially, pass it onto your child anyway. There is no way to be certain if that could happen unless you learn what your genes hold.
This blood test is designed to identify the recessive heritable traits that you have in your genes, and to identify if your spouse also carries those recessive traits. Together, this information is a really good predictor of the risk you possess of producing a child who will have the disease that runs in your family. If neither of you carry the recessive traits, there is a 0% chance that your child will have the disease. However, if you each carry a recessive trait, there is a 25% chance that your child will have the disease. Knowing what the percentage of risk is that your child will inherit the family disease, before the child is even conceived, is valuable.
Specifically, the test is designed to identify if you carry the genes for disorders that are recessive, but not exceptionally rare. It is useful to determine if you, or your spouse, carry the recessive genetic traits for Tay-Sachs disease, cystic fibrosis, or thalessemias. These diseases can be fatal for infants. The test can screen for over 400 specific genetic abnormalities that may, or may not, be in your genes, or the genes of your spouse.
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