Premarital Genetic Diagnosis Unit

Genetic screening is a preventive and diagnostic approach used to identify individuals who may be carriers of a genetic disease. These tests are particularly important for detecting autosomal recessive diseases. Autosomal recessive diseases are those in which an individual must inherit two defective copies of a gene, one from each parent, for the disease to manifest. Typically, each person has two copies of every gene—one inherited from the mother and one from the father. Individuals who carry only one mutated copy of a gene usually do not show symptoms of the disease but are considered carriers. These individuals can pass the mutated gene on to their children.

Genetic screening is especially significant for couples planning to have children. This testing helps them become aware of potential risks of transmitting genetic diseases to their offspring before pregnancy. In other words, genetic screening enables them to make more informed decisions regarding various reproductive and treatment options. Since carriers of genetic diseases are often unaware of their carrier status, conducting these tests as a preventive measure is highly beneficial.

If an individual is identified as a carrier of a genetic disease, this information can also serve as a warning for their relatives. In other words, by identifying carriers, families can be informed about potential risks to other family members. If both partners in a couple are carriers of the same mutated gene, there is a 25% chance that their child will be affected by the genetic disease. Therefore, genetic counseling and further testing are essential for such couples.

One of the tests that allows for the identification of individuals carrying common genetic diseases is the Expanded Carrier Screening Test, which is based on next-generation sequencing (NGS). This test can screen for 150 to 280 different genetic diseases, identifying individuals who are carriers. This method is highly accurate and comprehensive, enabling the detection of diseases that could be transmitted to children if left unidentified.

Thus, genetic screening not only enables individuals to prevent future genetic problems but also generally increases awareness and facilitates informed decision-making regarding family health.