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. Karyotype, chromosome Y microdeletions or the fragile X chromosome syndrome are tests usually recommended in the fertility consultation. A positive result in any of them will allow us to establish a genetic base for the patients’ reproduction problems.  

A new genetic test has been recently incorporated to verify if there’s a genetic incompatibility between the couple.

Can we be incompatible to have children?

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 answer are the hereditary 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, 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 from 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) is used in the GCT and allows patients to search any genetic mutations. Our “Genetic Compatibility Test” analyses the genes of more than 2500 recessive disorders. Once the pathogenic variant is identified we can verify whether the couple share the same gene mutation or not. If negative, the risks of a baby with the hereditary disorder will be reduced from 1 between 200 to 1 between 100.000. If positive, 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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