Genetic Compatibility Testing.
Genetic compatibility testing, which can be conducted on patients, egg donors, and sperm donors, is a valuable tool in assessing the risk of certain genetic diseases or disorders. While advanced genetic techniques can reduce the chances of affected offspring, they cannot guarantee the absolute genetic health of an embryo or an individual since small deletions or de novo mutations may remain undetected with current technology.
There are various scenarios in which genetic compatibility testing can be beneficial:
- Family History: In many cases, the diagnosis of a genetic disease becomes evident when a family member is already diagnosed or displays symptoms. However, recessive genetic diseases can be identified in the offspring of parents who are healthy carriers without any prior family history of the disease.
- Risk Assessment: It offers the possibility to evaluate the risk of having a child with a genetic disease. Genetic studies can reveal whether those seeking pregnancy are carriers of one or more recessive genetic mutations. When there is a high risk for a particular disease, measures can be taken to increase the chances of having a healthy child.
- Common Genetic Diseases: Among the most frequent genetic diseases are cystic fibrosis, spinal muscular atrophy, and fragile X syndrome.
- Specific Tests: Genetic compatibility tests can include targeted studies for a particular disease when there is a known family history. Alternatively, broader screenings can be conducted, encompassing up to 4000 mutations associated with 600 different genetic diseases.
It’s essential to note that these studies may not always be covered by medical insurance. Therefore, if you choose to undergo genetic compatibility testing, you should either request it through your healthcare provider or seek a consultation with a genetic specialist.
Please be aware that specific terminology or procedures may vary depending on regional medical practices and healthcare providers