Genetic carrier screening, how does it work?

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Genetic carrier screening, how does it work?

This test is for couples that want to know their probability of carry a genetic disorder that can affect their offsprings. Thanks to this genetic test you will be able to know whether you carry a variant for certain genetic disorder.

Do you know what alleles are? They are genetic variations or differences that set us apart from each other; that 1% of our DNA that defines us…

From every gene we have two copies, one inherits from our mother and another from our father. In Recessive disorders, both copies of the gene must be “abnormal” in order for the disease or trait to develop. A carrier of a genetic disorder is a person who has a mutation in only one copy of the gene, while the other works normally. Carriers are healthy and do not manifest the disease, but they can transmit the mutation to their children. Only when a carrier mates with another healthy carrier of a mutation in the same gene, they are at risk of having an affected child. Thus, having a 25 % chance of having a child affected by this recessive disorder on each pregnancy.

Genetic carrier screening, one of the most valued tests by families

Health experts recommend any couple willing to conceive a child to undergo carrier screenings, regardless of them having a known family history of genetic disorders.

When both members of the couple are carriers of a recessive or X-linked mutation, there are many options to prevent the child from being affected by the disease. One of them is to undergo an in-vitro fertilization cycle with preimplantation genetic testing, to get embryos analysed and select those that are not affected by the genetic disorder before transferring them to the mother’s uterus.

If you want to undergo a carrier screening, you may contact us by calling 965 969 38 400, or by e-mail at info@pgdlabs.com and at the Jabriya Medical Center, 6th floor, Fourth Ring Road, Jabriya Block 1A, in Kuwait.