It is thought that about 20% of the reproductive problems are genetic or chromosomal. That is why the genetic testing is now an essential part of the fertility study carried out on couples who come to our centre for help to have children.

There is a group of genetic tests that are very useful when it comes to diagnosing whether a couple who want to have children actually have fertility problems. Tests such as the karyotype in both the man and the woman, the Y chromosome microdeletions in the man or the molecular genetic testing of the Fragile X syndrome in the woman are tests that are usually recommended to determine whether a genetic basis of infertility in the couple is indeed possible.

But, can there be genetic incompatibility between a man and a woman, which makes it impossible to have children together but not with another partner? The answer is no.

The exception to this rule is the autosomal recessive disorders. If one copy of the mutated gene is present in the father and the mother there is a chance that the disorder will be passed on to their children. If only one of the copies is mutated, and the other copy isn’t, the person will be a carrier and won’t have any of the clinical symptoms of the disease. If by chance both the man and the woman are carriers of the same autosomal recessive disorder there is a 25 percent chance that they will pass it on to their children. To prevent this happening we have come up with a new test that is called the “Genetic compatibility test”.

New technology called NGS- next-generation sequencing (massive parallel sequencing) studies 600 or 1675 genes since 2020, that cause the autosomal recessive disorders and determines whether there is a pathogenic variant in one of them. With the “Genetic Compatibility Test” we can find out whether both the man and the woman have mutations in the same gene, which would therefore mean there is a 25% risk of passing on a disease. If this is indeed the case, the couple would then need the appropriate preconception counselling seeing as nowadays there are solutions for this like the  Pre-implantation genetic diagnosis (PGD)

Dr José A. Ortiz, biochemist at IBBIOTECHInstituto Bernabéu Group

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