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Sitting down with a genetic counselor is not a simple task. Couples undergo an extensive investigation of their family's medical history and their origins, dusty family records are unearthed, and names of diseases and syndromes are thrown into the room. We are here to clarify and explain precisely what happens and why it is so crucial.
When a couple prepares to expand their family and bring a child into the world, one of the key aspects to consider is the genetic information passed on to their offspring. In recent years, there have been significant scientific advancements in the field of genetics, and we are proud to introduce an expanded genetic testing service during pregnancy. This service aims to identify and reduce the risk of giving birth to a child with a severe genetic disorder.
Every cell in our body contains chromosomes that carry genetic information, and each parent passes on half of their genetic material to their child. Most of the conditions tested for are recessive diseases. In these cases, one or both parents can be carriers of a genetic disorder—meaning they show no symptoms but may pass on the defective gene to their child. A child will only be affected if both parents are carriers of the same condition, resulting in a 25% chance of having an affected child.
Some conditions, such as Fragile X Syndrome and Duchenne Muscular Dystrophy, are inherited exclusively from the mother, regardless of the father’s genetic makeup. A woman who is a carrier of these conditions may pass them on to her child.
The goal of genetic testing is to significantly reduce the likelihood of having a child affected by a severe genetic disorder. During testing, both partners are screened. Initially, the woman’s sample is analyzed, and if she is found to be a carrier of any of the tested conditions, her partner’s blood sample is also tested. If a genetic carrier is identified, the couple will receive counseling about their options along with a medical recommendation based on the findings.
Genetic testing during pregnancy provides an important tool for early identification of genetic risks, allowing parents to make informed decisions. We recommend completing the tests before conception or as early as possible in pregnancy, even if previous tests were performed.
Before each pregnancy, consult your healthcare provider to determine whether new conditions or mutations have been added to the screening panel. If new tests are available, it may be advisable to undergo genetic testing again.
The new service differs in several key ways:
Previous tests covered between 3 and 30 diseases, depending on parental ancestry. The new genetic screening includes over 295 genetic diseases and more than 650 genetic mutations, regardless of ancestry. This allows for broader identification of potential risks and provides parents with critical information at an early stage.
Previously, only the woman was tested at first, and if she was a carrier, the partner was tested later. The new process screens both partners at the same time, regardless of their health fund affiliation, with results available within one month. If the woman is found to be a carrier of a recessive genetic disorder, the partner’s sample is automatically tested, and both receive joint test results.
While genetic testing previously required payment, the expanded genetic screening panel is now covered at no cost under the national health basket.
To book an appointment with a genetic screening nurse, contact your medical center or call 507*.
The woman’s sample is analyzed first. If she is found to be a carrier, the partner’s sample is also tested.
If only one partner is a carrier, the risk of having an affected child is considered low, and further consultation with a healthcare provider is recommended.
If both partners are carriers of the same condition or if the mother carries an X-linked disorder (e.g., Duchenne or Fragile X Syndrome), the couple will be referred for genetic counseling for further assessment and guidance.
[Click here for more information about eligibility for expanded genetic screening, the information is in Hebrew]
Results will be available within approximately one month and will be uploaded to your medical records, ensuring accessibility to both you and your doctor. Additionally, the results will be securely reported to the Ministry of Health, in compliance with legal requirements.
If one partner is not a Leumit client, the medical center staff can assist in obtaining the test results.
Dor Yesharim is an organization dedicated to preventing recessive genetic diseases by screening couples for genetic compatibility before marriage.
These tests are conducted anonymously and confidentially – results are not disclosed to the individuals tested. Instead, couples receive a compatibility status based on a comparison of their test numbers. Testing is conducted in laboratories accredited by the ISO 15189 standard and the Ministry of Health.
Dor Yesharim testing does not replace full genetic screening for individual carriers. It only determines genetic compatibility between couples. Therefore, it is essential to consult a genetic screening nurse to receive the recommended list of genetic tests.
[Click here for more information about eligibility for "Dor Yesharim" testing, the information is in Hebrew]
