The introduction of PGT has made it possible to select disease-free embryos before they are transferred into the uterus in in-vitro fertilization (IVF) processes. This technique allows families who carry genetic mutations and who, for religious or other reasons would not consider abortion, to have children who are free of specific genetic diseases. The procedure alleviates physical suffering and emotional distress in all such families.
PGT begins with the usual process of in-vitro fertilization, which includes egg retrieval and fertilization in a laboratory. After fertilization, a small number of cells are removed from each of the embryos using a microscope and micromanipulation devices. Analysis of the removed cells enables the identification of disease-free embryos. Once the PGT procedure is completed, one of the healthy embryos is placed into the uterus. Any additional embryos that are free of genetic problems may also be frozen for later use.
PGT is offered in Israel as part of the national health insurance program and is free of charge to the patient. It has the potential to prevent great suffering and lead to significant subsequent savings as well to the Israeli health system through the prevention of disease. Currently, patients from the southern region of Israel must travel to other regions in order to take advantage of PGT. As a consequence, some of them are unable or choose not to go through this process at all. Those who do choose to go to distant medical centers for PGT must also undergo all subsequent IVF treatments at those centers, and are thus faced with a significant burden of additional expenses and inconvenience.
In the Negev region, incurable inherited genetic diseases that cause serious medical problems and great hardship to affected children and their families are unfortunately very common. Therefore, PGT is a vital and extremely important technology.
For a population of more than one million people in southern Israel, until recently, there was no facility for PGT.
In 2022, for the first time in the southern region of Israel, Soroka Medical Center began to offer PGT services. The establishment of these services had an immediate impact on the quality of care and our ability to prevent many severe genetic diseases through PGT without the need for abortions.
A Healthy baby was born to parents who are both carriers of a severe hereditary disease thanks to advanced genetic testing at Soroka Medical Center of the Clalit Group
This remarkable birth was made possible through Soroka’s new PGT service, which is performed prior to pregnancy in conjunction with in vitro fertilization (IVF). The program is a collaborative effort between Soroka’s Genetics Laboratory, Institute of Human Genetics, and Fertility and IVF Unit and Laboratory.
Unlike traditional prenatal tests such as amniocentesis or chorionic villus sampling, which are conducted during pregnancy, PGT allows for the early detection of genetic disorders before an embryo is even implanted helping parents avoid the agonizing decision of terminating an affected pregnancy.
Who Can Benefit?
PGT is recommended for couples with a known risk of passing on hereditary diseases—for instance, if one partner is affected by a genetic disorder or if both are carriers. Currently, the procedure is included in Israel’s public health basket and is funded for up to two healthy births.
How Does It Work?
- Genetic Counseling: At Soroka’s Institute of Human Genetics, specialists assess the family’s genetic risk.
- Custom Test Development: A diagnostic system is tailored to identify the specific gene mutation, based on blood samples from the couple and possibly family members.
- IVF Process Initiation: The couple begins fertility treatment at Soroka’s IVF Unit.
- Embryo Creation: Eggs are retrieved, fertilized in the lab, and cultured to form embryos.
- Embryo Biopsy: A small number of cells are carefully removed from each embryo.
- Genetic Testing: Only embryos free of the targeted genetic condition are selected.
- Embryo Transfer: A healthy embryo is implanted; others may be preserved for future use.
The test is highly reliable (approximately 97%), but follow-up diagnostic testing during pregnancy is still recommended for confirmation.
Dr. Shirley Amar, Director of the Genetics Laboratory at Soroka, emphasized the importance of the service: “PGT offers new hope to families at genetic risk. From identifying and validating the mutation to designing personalized tests and performing final diagnosis—all these critical stages are handled in our lab. This service is a significant advancement for residents of the Negev, and we are proud to be part of it.”
Dr. Arie Koifman, Director of the Institute of Human Genetics, highlighted the teamwork involved: “PGT is a complex journey from genetic counseling led by our expert Ms. Elena Maskit, to precise diagnostics and lab work. The collaboration between our Institute and the IVF Unit makes it possible to bring healthy children into the world, even in the face of serious genetic risk.”
Prof. Iris Har-Vardi, Director of the IVF and Male Fertility Laboratory: “PGT combines cutting-edge science with personalized care. It requires seamless coordination between geneticists, fertility experts, and laboratory teams and we’re proud to offer this advanced treatment at Soroka.”
Dr. Atif Zeadna, Director of the Fertility and IVF Unit: “By uniting genetic and reproductive medicine, we can offer truly personalized care that ensures a healthy future for both child and family. It’s a challenging process, but one that we approach with the utmost dedication.”
