Decoding DNA To Identify Birth Defects In Unborn Babies

Israeli startup Identifai Genetics says it can determine whether a baby will be born with any kind of genetic disorder, using a simple and inexpensive blood test to analyze traces of the fetus’ DNA that is found in the mother’s blood. 

Current testing for genetic birth defects is habitually carried out in the second trimester (13 to 28 weeks of pregnancy), and includes tests for Down Syndrome and neural tube defects. But Identifai says it can complete the testing in the first trimester.

The startup aims to provide answers to expectant parents in less than the seven days that the American College of Gynecologists and Obstetricians says it takes to receive the results from screening the DNA in a pregnant woman’s blood.

Terminating the pregnancy, stresses Identifai CEO and founder Amir Beker, is not the only answer after discovering that an unborn baby has a birth defect, and catching it early could widen the prospects for treatment.

“Some diseases may be cured, and some defects may be corrected using surgical procedures in the womb,” he says. 

“We can also indicate diseases at an early enough stage in the pregnancy in order to treat them.”

Solving The DNA Puzzle

There are millions of DNA pieces in a single drop of blood, explains Beker. And in the case of a pregnant mother, her blood carries not only her own DNA, but pieces of her unborn child’s DNA as well. 

This is because some of the cells of the placenta, the only fetal tissue that is in direct contact with the mother’s body, naturally break down and release DNA into her bloodstream.

Identifai’s advanced propriety algorithms first separate the pieces of DNA from the mother and child in the blood sample. This is a challenging task, Beker says, as only 10 percent of the DNA in the sample is from the baby’s genome (complete set of DNA).

Beker likens the DNA pieces to the parts of two puzzles that are mixed together. 

“Ten million pieces of the puzzle are the mother’s DNA, and the other million pieces are the fetal DNA, which are almost identical,” he tells NoCamels. 

The second stage of the process is to reassemble the fragments of the fetus’ DNA into an entire genome. The process of separating the DNA and reconstructing it takes just hours to complete. And after it’s done, scientists can analyze the results and determine whether the baby has any genetic defects.

A Safer Solution 

There are currently two main tests to determine whether an unborn child has a genetic disorder. Amniocentesis, performed during the second or third trimester of pregnancy, can diagnose certain chromosomal conditions (such as Down Syndrome) and other genetic conditions.

It involves inserting a thin needle into the abdomen and removing a small amount of amniotic fluid from the sac surrounding the fetus, which contains some of the fetus’ cells and genetic information, to help diagnose genetic conditions.

The second test is chorionic villus sampling (CVS), which uses a sample of tissue from the placenta. The tissue is obtained either by inserting a catheter through the cervix into the placenta, or by injecting a needle through the abdomen and uterus and into the placenta.

Both tests are not without risk.

According to Britain’s National Health Service, up to 1 in 100 women may experience a miscarriage after having an amniocentesis or CVS after the 15th week of pregnancy. Procedures carried out before the 15th week carry a higher risk. These rare miscarriages normally occur within three days of the procedure, but can happen up to two weeks later and doctors are not sure why. 

Other complications from the procedure are also rare, but may lead to cramping, injury or infection, and premature labor.

While non-invasive prenatal testing (NIPT) does already exist, it can only identify 10 percent of all genetic disorders. 

More specifically, it identifies trisomy disorders – genetic conditions where there is a presence of three chromosomes instead of the usual pair of two, such as Down Syndrome.

A Test For All Women

Identifai says it is the best of both worlds: a non-invasive prenatal test that has the same accuracy and range as amniocentesis and CVS.

“We do not know of any other platform that is universal and provides results at the maximum resolution,” says Beker. “Not in the market nor in academia.”

Founded in 2019, Identifai is a culmination of over a decade of research by its CSO Noam Shomron, professor of Cell and Development Biology at Tel Aviv University, and his PhD student and company CTO Tom Rabinowitz. 

The two created the company along with Beker, and the Shizim Innovation Center, led by Yossi Bornstein, who is also the chairman of Identifai. 

Identifai most recently presented its solution at the annual BioMed Israel Conference in Tel Aviv last May, which showcases the latest developments in healthcare.

The startup, which is based in Tel Aviv, has conducted clinical trials in several Israeli hospitals. It will soon embark on its first US-based clinical trial in collaboration with Columbia University and researchers at the Lenox Hill Hospital, both in New York. 

The company hopes that its genetic testing will be ready for clinical use within 18 months. 

It’s too soon to say what the business model will look like, Beker says, explaining that Identifai may partner with big labs or companies already offering NIPTs and license its technology to them as a digital health service.

His vision is to ultimately have every pregnant woman use Identfai before the end of their first trimester to determine whether their unborn child has a genetic defect. 

“Imagine a world in which a totally risk-free, non-invasive and simple blood test from the mother, at an early stage of the pregnancy, could indicate any genetic anomaly,” he says.

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