Genetic Screening

Our genetic makeup is a unique mosaic of genes and information. Each of us carries genetic variations that could trigger certain disorders in our offspring. Genetic compatibility testing is an innovative approach that identifies specific recessive mutations, providing a foundation for well-informed decisions in family planning.

Understanding the Technique

Genetic compatibility testing aims to determine whether one or both parents are carriers of mutations in specific genes. These mutations are recessively inherited, meaning the disease only manifests if both parents pass on the mutated gene.

Both Partners as Carriers. The test can be conducted on both parents if they provide their germ cells for assisted reproductive procedures (IVF). The test is also possible if one partner donates eggs or sperm while the other contributes their gametes.

Risk Assessment. If both partners are carriers of mutations in the same gene associated with recessive diseases, there’s a 25% chance the child will suffer from the disease, even if the parents are healthy. Furthermore, there’s a 50% chance their children will become carriers of the mutation.

To provide clarity, various options are offered

gen comp tree

Results and Course of Action

Genetic compatibility testing provides precise results that aid in decision-making.

Low genetic risk. There’s a low genetic risk if the tested couple doesn’t exhibit mutations in the same genes and the woman doesn’t carry an X-chromosomal variant of these genes.

High genetic risk. If the couple carries variants of the same gene or the woman has an X-chromosomal variant, there’s an increased risk for specific disorders.

Continuing Family Planning

Depending on the results of genetic compatibility testing, various options are available,

  • Preimplantation Genetic Diagnosis (PGD). If both partners are carriers of the same mutation, PGD can be used to select an unaffected embryo.
  • Use of Donors. If donor gametes are used, the donor is tested for the same mutations beforehand to ensure no matches.

 

It’s important to mention that our test examines over 300 recessive genes for recessive mutations.

Dr. Christos Roukoudis is certified in German Specialist Genetic Counseling and can interpret the results and assist in selecting the best approach for your family planning.