A research team, headed by Dr. Gheona Altarescu, head of the pre-implantation genetic diagnosis project at Shaare Zedek Medical Center’s Fuld Family Institute for Medical Genetics, together with Dr. David Ze’evi, has developed a new technique to detect hereditary diseases in young embryos and fetuses in natural pregnancies without the need to examine samples of amniotic fluid in the uterus.
The results have been published in the Journal of Clinical Investigation, a leading journal on clinical trials.
The clinical test included eight couples who are carriers of Gaucher’s Disease. In each case, the researchers detected the disease by testing the mother’s blood. Dr. Ze’evi shared, “We started our research with Gaucher’s patients in cooperation with Prof. Ari Zimran, Head of our Gaucher’s Clinic. We chose this group because these carriers are very accessible to us, since Prof. Zimran’s clinic is the largest in the world, and because the technique does not cause miscarriages in pregnant women.”
Prof. Altarescu explained, “This test allows us to identify hereditary conditions via a simple blood test of the expectant mother. We believe that within a year this test will be available on the market. We are continuing to research if this approach can test relevant for the detection of diseases like Tay Sachs, Cystic Fibrosis, Muscular Dystrophy and Fragile X Syndrome. This is a very important step forward for the field of medical science and a very positive development for expectant parents.”