If we talk about a test to be performed before a baby is born, you will surely think about the pregnancy tests, which tells you if the woman is pregnant or not. However, it is not the only one, since there are some genetic tests that are performed before pregnancy to know the problems that the baby could have resulting from a specific couple.
They cost 450 euros and serve to meet what are the diseases that a baby could have based on the inheritance of a man and a woman, even when neither of them suffers from any disease. For the moment, they are usually only used in cases of donation for assisted reproduction treatments, but they exist, they are available to anyone who can afford it and it is very likely that they will soon generate some controversy.
Diseases that parents do not have?
In the event that one of the parents has a known inherited disease, it is easy to think that the child could suffer from it as well. However, not everything we carry in genes comes to light. Many people we are carriers of genetic mutations with alterations that we have not developed, because they are recessive alleles (which in combination with a healthy dominant allele of the other person, would never come to light). Now, if both the father and the mother are carriers of a recessive illness, when it comes to having children, the baby would have a 25% chance of actively suffering from this disease.
What do these tests consist of?
At the level of fertilization treatments, the IVI has been doing these tests for some time, which are called Preimplantation Genetic Diagnosis. Since December they are also held in Dexeus, Barcelona, where they can be done for fertilization reasons or because a couple wants to do them.
They consist of the analysis of the genes of the father and the mother looking for up to a total of 200 possible mutations, which are the most common in the area in which we live. The alterations that are sought are those that have a recessive character, which, as we have explained, make parents healthy carriers who do not know they are carriers of anything, that if they get together with another healthy person with the same mutation they would have the risk mentioned before having a baby with the disease.
The diseases that can be looked at include some as well known as cystic fibrosis, muscular dystrophies, such as Duchenne's, fragile X syndrome or phenylketonuria.
Why they are used in fertility treatments
When you request a fertility treatment and donor gametes are used, whether they are ovules, or sperm, the donor is sought to be of a similar phenotype (if a donor egg is used, for example, one of a woman with characteristics similar to those of the mother in which it will be implanted). Well, to this is now added the possibility of being able to also select those ovules (or sperm) that do not have a recessive mutation that also has the mate's material, to avoid that 25% chance of the child suffering from the disease. Obviously, the test does not ensure that the child will be born totally healthy, since 200 diseases are controlled, but there are many more.
If it is ethical? Well, I do not know. To me I dont think is bad. We are talking about choosing an ovule or another, not fertilized, based on possible diseases that could be avoided. If we were to choose the child's eye or hair color, banal themes, I would think differently, but since we have to end up using donor reproductive cells, unless we can avoid the probability that the baby has a disease that It could be serious.
What if we don't talk about donation?
Ok, in the case of assisted reproduction, it can be logical, but what if we don't talk about donation? And if I go with my partner, we have not had children, and we do it? We will have results that will tell us that we do not have any recessive mutation, or that we do. They may tell us that we can be calm, because our children will not inherit it, or they may tell us that we have a chance among four of having a child with a certain disease. Then what do we do? Not conceive? Adopt? Separate and find a more compatible partner?
I do not know, it seems excessive that two healthy people want to know if they are carriers of any disease just to know if there is the possibility of having a child with it. Excessive because knowing involves having to make decisions, and I don't understand what decision a couple can make with that data. How do you see it?
