Genetic Disorders

A change in genetic material may cause disorders; in some cases, the disorder is inherited from one of the parents, with the disorder often appearing for the first time in a specific patient.

Today, many genetic disorders are known to us, including those that affect multiple organs and cause various impairments, including, among others, congenital and functional defects, cognitive impairments, etc. Genetic mutations in the genetic material are the root cause of these disorders. Even when both parents are healthy and there is no history of genetic disorders in their family, there is a chance that they are carriers of a mutation that could cause a disorder in their child.

Hence the recommendation that every woman who is planning on becoming pregnant undergo genetic screening tests to determine whether they are carriers of common genetic disorders before they become pregnant. Early diagnosis can spare parents a great deal of suffering and difficulty later.

The Ministry of Health established a list of recommended genetic screening tests that everyone should undergo. If there are cases of disorders that are potentially genetic in nature in the extended family of the partner, seek genetic counseling before planning the pregnancy.

It should be noted that carrying a genetic disorder is rather common in the general population and usually does not pose a health problem to the carrier or the child. The risk of disorder in future children exists on rare occasions when both parents are carriers of the same disorder.

What should be done when both partners are found to be carriers of the same genetic disorder?

• Couples who were found to be carriers of the same disorder, thereby increasing the risk of having children with the disorder, will be referred to genetic counseling, where they will receive an explanation about the options available to them.
• If the woman is not pregnant, the couple can consider preimplantation diagnosis through In Vitro Fertilization (IVF-PGT).
• If the woman is already pregnant, the couple can consider diagnostic test to determine the condition of the fetus.