Genetic Screening Tests Before or During Pregnancy

• The Ministry of Health recommends that anyone who considers having children undergo genetic tests.
• It should be remembered that the decision to undergo the screening tests is a personal decision of whoever the tests can affect their future and the future of their family. Therefore, it is very important to fully understand the significance of the tests and decide whether the performance thereof fits their worldview.

• The tests should be performed as soon as possible. It is best to perform them before the first pregnancy but can also be performed in the beginning of the pregnancy.
• The results of the tests are valid for all the pregnancies of that couple, but at the beginning of each pregnancy, it is best to check whether additional tests are recommended or whether there is an update for the tests already performed. 
• In the case of pregnancy with another partner, it should be determined whether additional tests are necessary.
• The genetic screening tests should be completed prior to IVF treatments.

• The Ministry of Health, within the framework of the Healthcare Basket, funds standardized extended genetic screening tests for the entire population for detecting carriers of genetic diseases.

• More extensive, exome-based genetic screening tests can also be performed, privately and for a fee. Information about private extensive genetic screening tests can be obtained at the genetic institutes (Hebrew).

Standardized expended genetic screening tests

• Provided free of charge to those eligible.
• Eligibility for the expanded genetic screening tests is only given once, during the fertile period of couples only.
• Couples where only one of the partners is an Israeli resident, holding an Israeli identity card, are eligible for the expanded genetic screening tests for both partners. In such cases, a marriage certificate or a confirmation of them being a couple and a declaration of place of residence must be attached. 

Not eligible for standardized expended genetic screening tests funding

• Sperm donors from anonymous donors from sperm banks.
• Women prior to a fertility preservation process.
• People who do not wish to have their screening test results transferred to the database.

Genetic screening tests for one of the parents

• Screening tests for only one parent (i.e., not for a couple) are possible only in the case of a single-parent pregnancy (sperm or ovum donation).
• In such a case, a document from a fertility doctor or fertility institute must be presented before the test is performed.
• In such cases, the Ministry of Health does not fund the tests for the sperm or ovum donor.

• The tests can be performed at the HMOs or the hospitals' genetic institutes (Hebrew).

• If the couple chose to undergo the test at the HMO's laboratories:
  • If both are members of the same HMO, they will undergo the test at the HMO's laboratory.
  • If they are not members of the same HMO, they will undergo the test at the woman's insuring HMO.
• If the couple chose to undergo the test at the hospitals' genetic institutes, it is irrelevant in which HMO the couple are members.

• Instead of performing the test (laboratory test), the couple will receive an explanation about the tests, fill out forms, and sign them; a blood sample will be taken from both of them.
• The tests are done in stages: first, the woman is tested, and if she is found to be a carrier of one of the diseases included in the expanded screening, a test will be done on the partner’s sample.

Upon receiving the test results

• If the woman’s test is clear for all diseases in the screening, the partner will not be tested, and the results report will be sent to the couple.
• If the woman’s test is clear for all recessive diseases but not for one of the X chromosome-linked inherited diseases (meaning she is a carrier), the couple will be invited for genetic counseling.
• If the woman’s test identifies a carrier status for one of the recessive diseases, the laboratory will conduct a screening test for all diseases in the screening for the partner as well.
  • If the partner's test is clear (no carrier status or no shared carrier status), the couple will receive an explanation and recommendations regarding the current or future pregnancy.
  • If both the woman and the partner are found to be carriers for the same recessive disease (shared carrier status), the couple will be invited for genetic counseling.

Genetic Counseling

• During genetic counseling, the couple will receive explanations and recommendations regarding the current or future pregnancy.
• If the woman is pregnant, the options for checking the fetus’s health will be explained.
  • Diagnostic testing during pregnancy to determine if the fetus is healthy or sick through either a chorionic villus sampling (CVS) or amniocentesis — the test is funded by the Ministry of Health at public hospitals.
• If the woman is not pregnant:
  • Pre-implantation genetic diagnosis (PGD) (Hebrew) test (funded by the health fund for up to 2 healthy children).
• If the fetus is unfortunately diagnosed with one of the diseases checked in the screening, the couple can approach a committee for pregnancy termination.