Tel Aviv University Scientist Develops Blood Test for Detecting Mutations

A new method has been devised for screening fetuses and trials are being conducted by Israeli scientists, as they believe it is capable of providing all the information derived from an amniocentesis minus the risks.

New technique

Tel Aviv University’s Prof. Noam Shomron said that the method he has developed involves taking a regular blood sample instead of the amniocentesis practice.

The latter entails the use of a needle for extracting amniotic fluid that can result in a miscarriage. He also added that the new technique can be used four weeks before amniocentesis.

This means that it can be carried out at 10 weeks rather than the standard 14 and it is just as capable of providing information about the risks of various diseases, syndromes and disorders.

He stated that they could use it for screening for thousands of mutations that could result in genetic diseases, such as cystic fibrosis and Gaucher’s.

It is also effective for mutations that are less common like those that occur in particular demographics, such as the Tay Sachs that is more commonly found in Ashkenazi Jews.

The head of the functional genomics lab at Tel Aviv University, Shomron published the new technique in peer-reviewed research.

He is developing the technology through a startup named IdentifAI Genetics, which he is leading with two of his colleagues Oren Tadmor and Tom Rabinowitz.


Dozens of Israeli women are participating in the testing of the new screening process and the results are corroborated with amniocentesis.

According to Shomron, he believes the regulators will approve the method and make it available in the next year.

Once they perfect the new technique for embryos, they could begin adapting it for screening adults and children alike for a number of diseases that occur with abnormal DNA, like cancers.


His method is certainly not the first alternative to have been introduced for amniocentesis. A blood test known as NIPT, or noninvasive prenatal test, is also widely used.

It is capable of providing reliable screening for a number of conditions, including Patau’s syndrome, Edwards’ syndrome and Down’s syndrome.

But, this method has limited scope and can only be used for screening large chromosomal changes and not for mutations that are hard to detect.

NIPT is only capable of identifying genetic changes that can be seen through examination of chromosomes.

Analysts have to zoom in for a number of mutations. Shomron said that his technique can provide details within the chromosomes.

He stated that their resolution was a lot better than what NIPT can offer because it was similar to satellite-imaging, which is highly detailed.

One of the major breakthroughs that resulted in Shomron’s method was the identification of the DNA of the fetus in the mother’s blood.

This is a challenge because the blood contains the DNA of the mother as well as that of the fetus. NIPT has not been able to accomplish this so far, which means the mixture of DNA is used for analysis, so it could be irrelevant to the fetus.

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