PGD offering hope

February 12th, 2019 by Camrin Parnell

Shaare Zedek Medical Center is on the cutting edge of assisted reproductive technologies, “making the miraculous seem almost routine.” Prof. Gheona Altarescu, has been the director of Shaare Zedek’s Pre-Implantation Genetic Unit since its inception in 2004. The unit was made possible by the generosity and vision of Rabbi David and Anita Fuld.

Preimplantation Genetic Diagnosis (PGD) offers genetic profiling of embryos prior to implantation and is used to prevent certain genetic diseases or disorders from being passed on to the child. The embryos used in PGD are created during the IVF process and the PGD technology can screen for any genetic disorders with a known cause (Down’s syndrome, Tay-Sachs, …).

Prof. Altarescu shared, “We had one family where both parents were carriers for NAGS deficiency, a very rare disorder that affects the processing of proteins and ammonia from the body. After undergoing IVF and PGD, they have two healthy children…Even if the disease is extremely rare, if you know the gene, we are able to do it…[Another couple had a child who was suffering from a bone-marrow disorder and they couldn’t find a suitable match]…using PGD we returned an embryo that was a perfect match for the affected child at home. Once the baby was born, they took the umbilical cord blood, extracted the stem cells and transplanted them to the affected child, and he now is healthy. We were the first ones to do it in Israel.”

Shaare Zedek was also the first hospital in Israel to count the number of chromosomes to test for Down’s syndrome and other chromosomal abnormalities together with genetic disorders.

IVF procedures can be very emotionally challenging and can often feel like a roller coaster ride with many ups and downs. Our IVF department makes many efforts to relieve patients’ stress including yoga lessons in Shaare Zedek for women undergoing fertility treatments.

Prof. Altarescu explained, “There are several things that make it special at Shaare Zedek. First of all, we are doing personalized medicine  – we have the option to do all the types of possible biopsies. When you do PGD, you have three biopsy options – the egg, one cell of a three-day embryo, or to biopsy several cells of a five-day embryo. There are some hospitals, mostly overseas, that will do a five-day embryo. In Israel, most do the three-day embryo biopsy. What is right for one couple is not right for another. You need to individualize it, and understand what is best for each couple, also in terms of the genetics, in order to give the best, most accurate results, and also in terms of the in-vitro fertilization lab, what provides the best chance of a woman to get pregnant. We are the only lab that performs all types of biopsies.”

In addition, Shaare Zedek researched the long-term welfare of babies born via PGD. Prof. Altarescu said, “We published a paper in which we checked neuropsychologically after their birth, to see if there was any damage from PGD and we demonstrated that there is no damage.”

Prof. Altarescu has great personal satisfaction from her work, “You have to see my office with the walls covered with pictures of babies…The only thing that I ask after they are born is that the parents send me a picture. That’s the best present.”

https://www.jpost.com/Magazine/Advanced-procedures-bring-hope-to-couples-with-genetic-diseases-579959