Genetic screening tests are recommended to all couples before pregnancy (or at the beginning of the pregnancy) and are tailored for each couple in a personal counseling session based on their ethnic origin. Counseling is done by the institute's staff.
No appointment necessary.
A genetic screening test is recommended for all members of society, even without a family history of genetic problems. The test helps identify couples who carry genetic mutations and are therefore at risk of conceiving children with severe genetic disorders that have no treatment.
Nearly all the screened disorders (except Fragile X syndrome) are autosomal recessive. Each person has two copies of each gene, one inherited from the father and the other from the mother. A person can have a recessive illness only if both copies of the gene are defective. This is possible only when both parents are carriers, i.e. one of their genes is mutated. Carriers are perfectly healthy people. Only when two carriers wish to conceive a child together there's a 25% risk of the child being sick.
All tested mutations occur in high frequency (one in 25-100 people is a carrier) so it is possible that two carriers start a family together and be at risk of conceiving a sick child.
It is preferred that both partners come together, though the tests can be done even if only one partner comes (preferably the woman).
- For Clalit members, please come with your HMO card.
- Couples with a known family history regarding one of the mutations tested will be referred to individual genetic counseling as soon as possible and should come with the relevant medical records. To schedule an appointment, please contact the Prenatal Clinic.