Carrier screening

Carrier screening consists of analysing parents to minimise the transmission of hereditary diseases to their offspring. . The genetics of both parents are studied to detect possible mutations in them, and if the same mutation is found in both, decisions can be made to avoid the transmission of this disease to the baby.

Almost everyone

carries some mutation related to a hereditary disease, which, because it is recessive, does not mean that the person will have the disease itself. There is a possibility, however, that their offspring will inherit it only if their partner also has that mutation in their DNA and, when both their genomes are mixed in reproduction, the child receives the mutated copy of each of them.

This is because humans have all genes in duplicate, inheriting one from our mother and another from our father, and although they are the same gene, the two copies are not the same.

For this reason, in recessive diseases, when only one of the copies has this defect, the person does not develop the disease because there is the other healthy copy. But if both copies are “defective”, the disease manifests with its symptoms and consequences.

This test detects the presence of mutations in parents, or in donors if using donor gametes, to determine whether there is a risk of the baby having such a disease.

The number of diseases analysed in this test ranges from 75 to more than 2200, depending on the patients. Either the blood or saliva can be analysed, and the test is very quick and easy. Results are provided in less than a month, even in the case of genetic analysis.

The great advantage of this option is that it can minimise the risk that the baby might have a serious and dangerous disease that would condition their life or even lead to death.

Suitable for:

Couples who for personal or religious reasons do not want to resort to artificial insemination or in vitro fertilisation

Young couples without any specific infertility problems

Couples with poor or irregular ovulation

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