PRECONCEPTION GENETIC EXAMINATION OF THE COUPLE

We recommend this for couples before they begin trying to get pregnant, and especially those couples who have a family history and personal history of a disease linked to genetic transmission and this disease has already occurred in the family. This means that this disease can reappear in the future in the next generation.

PRECONCEPTION GENETIC EXAMINATION OF THE COUPLE 

Consultation with a clinical geneticist is recommended for couples before they begin their efforts to get pregnant with assisted reproductive methods. This consultation is especially important for couples who have a real risk of having a genetic condition in the family, and there is a risk that this disease may recur in the next generation in the future.

Genetic examination, however, may also reveal a genetic mutation for a hereditary illness that has not yet occurred in the family and which can appear in the offspring of future parents.

How preconception genetic testing works:

 

  • We begin with a brief interview with a doctor, where a family and personal medical history of inborn illnesses in the families of both partners is discussed.
  • This is followed by blood sampling for chromosome examination and a karyotype assembly (a set of all chromosomes in the cell nucleus).
  • In women, we investigate the genetic disposition for increased blood clotting - thrombophilic mutation (Factor V Leiden gene mutation and a prothrombin gene mutation for Factor II).
  • In men with a serious pathological finding in the semen analysis, we focus on detecting possible changes at the genes level (the so-called microdeletion of the Y chromosome - the loss of part of the genetic information on the Y chromosome and the mutation in the CFTR gene).
  • Based on the results we have found, we recommend appropriate treatment and possibly IVF genetic testing of the embryo before its transfer to the uterus (PGD and PGS).
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