How Is the HERES-Test Performed?
The HERES Genetic Compatibility Test is a diagnostic test which identifies whether two individuals carry known mutations that could lead to genetic diseases in their offspring.
It is estimated that 1 in 40 couples is at risk of carrying the same recessive genetic disorder. Using the HERES-Test during family planning reduces the risk of having children affected by severe genetic diseases. It is recommended for couples planning a natural pregnancy but also for those considering assisted reproduction treatments.
The HERES-Test can detect over 300 genetic diseases, including some of the most severe and common conditions, such as cystic fibrosis, spinal muscular atrophy, fragile X syndrome, sickle cell anemia, thalassemia, and Wilson's disease, among others. Many of these diseases have no treatment, making early detection essential for preventing transmission to offspring.
The test involves analyzing blood samples from both partners, which are processed in a genetics laboratory to identify mutations. The results are then interpreted by genetics specialists and discussed with the patients.
If one partner carries a recessive genetic mutation, the risk to the offspring is usually low. However, if both partners carry a mutation in the same gene, there is a 25% probability that the child will inherit the disease.
What Options Are Available After a Positive HERES Test Result?
Should the results indicate that both partners carry mutations in the same gene, then there are several options to prevent the transmission of the disease to their offspring:
- In vitro fertilization (IVF) with Preimplantation Genetic Diagnosis (PGD): This allows the selection of mutation-free embryos before implantation.
- Using an egg or sperm donor who does not carry the mutation.
- Prenatal tests, such as amniocentesis or chorionic villus sampling, to confirm whether the fetus is affected.
It is crucial for a specialized medical professional in genetics to help you understand the risks and make informed decisions about your future pregnancy and the reproductive options available to you.