TAU develops blood test to detect genetic disorders in early pregnancy By Eytan Halon
The research, led by Prof. Noam Shomron of the university’s Sackler School of Medicine, was published Wednesday in the Genome Research journal.
Researchers at Tel Aviv University have developed a new blood test to detect genetic disorders in fetuses as early as 11 weeks into pregnancy.The simple blood test enables doctors to diagnose genetic disorders
caused by minuscule impairments in the fetal genome by sequencing small amounts of DNA in the mother’s and the father’s blood.
A computer algorithm processes the sequencing results to produce a “map” of the fetal genome, identifying countless mutations with atleast 99% accuracy, depending on the mutation type.
“Non-invasive prenatal tests are already available for chromosome disorders such as Down syndrome,” said Prof. Shomron.
“Our new procedure is based on fetal DNA fragments that circulate
freely in maternal blood and bears only a minimal risk for the mother
and fetus compared with such invasive techniques as the amniotic fluid
test. We will now be able to identify numerous mutations and diseases
in a safe and simple procedure available at the doctor’s office.”
While the genetic mechanism behind Down syndrome affects a large
portion of the fetal genome, and is therefore easier to detect,
researchers say the improved algorithm will enable physicians to
detect other diseases caused by smaller parts of the genome.
“This is like looking at a map of the world and noticing not only that
a continent is missing, but also that a single house is missing,” said
Prof. Shomron.
Together with graduate student Tom Rabinowitz, researchers from Tel
Aviv University and Haifa’s Technion-Israel Institute of Technology,
Prof. Shomron partnered with the Rabin Medical Center to test blood
samples from three families in the 11th week of gestation.
Researchers extracted maternal and paternal DNA from white blood cells
and fetal DNA from a placental cell sample. They also extracted
cell-free fetal DNA from the maternal blood.
“We sequenced all these DNA samples and created a computer algorithm
that utilizes the parental DNA as well as the cell-free fetal DNA to
reconstruct the fetal genome and predict mutations,” said Prof.
Shomron.
“We compared our predictions to the true fetal DNA originating from
the placenta. Our model is the first to predict small inherited
insertions and deletions. The method described can serve as a general
framework for non-invasive prenatal diagnoses.”
Researchers are currently working on further improving the accuracy of
the algorithm and enabling the detection of additional mutations.
“The practical applications are endless: a single blood test that
would detect a wide range of genetic diseases, such as Tay-Sachs
disease, cystic fibrosis and many others.”
https://www.jpost.com/Jpost-Tech/Business-and-Innovation/TAU-develops-blood-test-to-detect-genetic-disorders-in-early-pregnancy-581252
Researchers at Tel Aviv University have developed a new blood test to detect genetic disorders in fetuses as early as 11 weeks into pregnancy.The simple blood test enables doctors to diagnose genetic disorders
caused by minuscule impairments in the fetal genome by sequencing small amounts of DNA in the mother’s and the father’s blood.
A computer algorithm processes the sequencing results to produce a “map” of the fetal genome, identifying countless mutations with atleast 99% accuracy, depending on the mutation type.
“Non-invasive prenatal tests are already available for chromosome disorders such as Down syndrome,” said Prof. Shomron.
“Our new procedure is based on fetal DNA fragments that circulate
freely in maternal blood and bears only a minimal risk for the mother
and fetus compared with such invasive techniques as the amniotic fluid
test. We will now be able to identify numerous mutations and diseases
in a safe and simple procedure available at the doctor’s office.”
While the genetic mechanism behind Down syndrome affects a large
portion of the fetal genome, and is therefore easier to detect,
researchers say the improved algorithm will enable physicians to
detect other diseases caused by smaller parts of the genome.
“This is like looking at a map of the world and noticing not only that
a continent is missing, but also that a single house is missing,” said
Prof. Shomron.
Together with graduate student Tom Rabinowitz, researchers from Tel
Aviv University and Haifa’s Technion-Israel Institute of Technology,
Prof. Shomron partnered with the Rabin Medical Center to test blood
samples from three families in the 11th week of gestation.
Researchers extracted maternal and paternal DNA from white blood cells
and fetal DNA from a placental cell sample. They also extracted
cell-free fetal DNA from the maternal blood.
“We sequenced all these DNA samples and created a computer algorithm
that utilizes the parental DNA as well as the cell-free fetal DNA to
reconstruct the fetal genome and predict mutations,” said Prof.
Shomron.
“We compared our predictions to the true fetal DNA originating from
the placenta. Our model is the first to predict small inherited
insertions and deletions. The method described can serve as a general
framework for non-invasive prenatal diagnoses.”
Researchers are currently working on further improving the accuracy of
the algorithm and enabling the detection of additional mutations.
“The practical applications are endless: a single blood test that
would detect a wide range of genetic diseases, such as Tay-Sachs
disease, cystic fibrosis and many others.”
https://www.jpost.com/Jpost-Tech/Business-and-Innovation/TAU-develops-blood-test-to-detect-genetic-disorders-in-early-pregnancy-581252
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