February 2019: Rabinowitz and Shomron: High-resolution detection of genetic diseases in the first trimester of pregnancy
Tom Rabinowitz, Edmond J. Safra PhD fellow, and Prof. Noam Shomron, Edmond J. Safra Center member (Medicine) developed a blood test to check a fetus for genetic problems in the first trimester of the pregnancy.
The test has a much higher resolution than existing techniques, allowing the detection of point mutations and not only large changes in the DNA, and involves on risk to the pregnancy. Using an algorithm, the scientists can tell apart embryo DNA from the parent DNA and predict whether the embryo DNA carries modifications that might lead to severe diseases.
The study was published in Genome Research. It was also featured in the Israeli newspapers Maariv and Haaretz and in Walla news portal.
Prof. Shomron was also interviewed in the morning show of Israeli TV Channel 12.
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