When the result is positive it means that the person that did the test carries a mutation in a particular gene. In this case the test should also be carried out in the other member of the couple. If they both carry a mutation in the same gene, there is a risk of the couple having sick children.

A negative result indicates that the person who did the test doesn’t carry any of the mutations studied. However, there is still a small risk, that the person who did the test could carry another less frequent mutation which is not analyzed by the test.

What should be done when both parents are positive?

If both members of the couple obtain a positive result in the Carrier Screening Test with a mutation in the same gene, the recommendation is to consult with a specialist about the options for conceiving a healthy child.

These couples can choose prenatal or Preimplantation Genetic Diagnosis (PGD), thus preventing their child from suffering from an illness.

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