(Hai Fe) - Good news for couples who are planning a pregnancy or who are at the beginning of it: the health basket recently included an expanded and uniform genetic screening, which is carried out in all health insurance funds, which also includes the new genetic mutation discovered at the Rambam genetic clinic. This is a mutation in the TBCB gene, which until recently was not It was known to be associated with the disease, but it turned out that it may cause movement disorder, autism and mild cognitive impairment.
Dr. Sharon Bartman-Morg, a doctor and researcher at the Rambam Genetic Institute, told in an interview with Lahi Fe, how the genetic change was discovered. "Six years ago, we began monitoring two children from the same family, who suffered from movement disorders, autism, and mild cognitive impairment. During the genetic tests, we did not find any changes in known genes, but we discovered a change in the TBCB gene. At a later stage, we conducted research in collaboration with yeast and flies using genetic editing technology (CRISPR), and we proved that the genetic change really causes the disease."
Now, the test is included in the uniform genetic screening, which is routinely performed for anyone planning a pregnancy, regardless of ethnicity. Dr. Bertman-Morg explained: "The test is carried out regardless of origin, so everyone who performs the survey will also be tested for a change in the TBCB gene. Today, when Israel's population is diverse, this is an important step that allows the entire population to be examined in light of the new information."
Although the mutation is particularly common in the Ashkenazi population (1 out of every 80), the test is not limited to them. "The test tests the change that causes the disease in a targeted manner, so it is also effective for people who are not Ashkenazim."
The risk of a child being born with a genetic change when both partners carry the same change is 25%
Is it possible to perform the test also privately?
Yes, it is possible to perform a point mutation test, but it is recommended for anyone planning a pregnancy to perform it as part of the survey at no cost, even for people who previously completed genetic screening tests through the health insurance fund. If there is a suspicion of the syndrome, it is recommended to complete genetic counseling and accordingly a recommendation will be given for testing the mutation.
What are the consequences if both partners carry the mutation?
This is an inherited syndrome in an autosomal recessive form, that is, if both partners carry the same genetic change, there is a 25% risk that the child will be born with movement disorders, autism or cognitive impairment. Dr. Bertman-Morg explained that carrier is not a condition of disease, but a condition in which each of the parents carries one copy of the defective gene.
A test that can provide important information
What are the options for parents in this case?
According to Dr. Bertman-Morg, the decision of how to deal with the information is an individual one. Some families choose to terminate the pregnancy following such a diagnosis, others may choose prenatal diagnosis (in vitro fertilization and return of healthy embryos), and there are also families for whom the information will not affect the course of the pregnancy, but They will support the child from an early age to ensure a better quality of life.
Who is the test recommended for?
The test is a screening test, and is recommended for every couple planning a pregnancy, even if they have performed genetic tests in the past. According to Dr. Bertman-Morg, this is a test that can provide important information, and it is recommended to perform it as part of the genetic screening before or at the beginning of pregnancy.
The new genetic test is currently available free of charge as part of the uniform genetic survey at health funds and genetic institutes. For couples planning pregnancy, this is an important step that can prevent complex medical conditions and adjust preventive treatment if necessary.
Based "scientific studies": "laboratory" experiments, "measurements"/"measurements"/"measurements"/"dimensions"
& "questionnaires" for the purposes of "surveys", "interviews", "observation" of the community and the environment... all of the above +++++ = yields results based on "science", which help "awareness" on the one hand... for "improvement" "Elegy of the life of "human beings" on the face of the earth... in all the hell, including the
"Research" is important! Not clear, what came before what...???
Is it the "awareness" or the "phenomenon"??
Because it seems that... "autism" is increasing... perhaps because all the external "stimulations": "figures" and "games" and "Tumblevision"... instead of "nature"... to which the newborn is exposed: multiplied and intensified the difficulty of dealing with the "big world" …!!!
Autism is because of the injections!!!! Injections should be completely banned!!!!
Still the majority of autism cases, around 80%, will not be detected in genetic tests nor do they show any suspicious signs in ultrasound tests.
The aforementioned test of a mutation present in 1:80 Ashkenazim, which means 1:6400 Ashkenazim couples does not explain the high prevalence of autism which reaches around 1% of newborns
writing ishova
Mistake Most Mizrahim from the Bays are cognitively impaired
A "generalization", which is not "scientifically" based... but, a "scrambled" result...!@
Most of those who speak like you, do not think like you... It will become a "trend" to attack "Mizrahim", because they are jealous of the "affirmative action", which has raised them to new and diverse heights, in all "circles of life" in the "strictly kosher Jewish state"...!!!! !@@@@@
Why didn't we know this topic years ago?
Go and check everything possible!
Many of the genius professors and doctors are autistic / Aspergers, for your information.
Einstein and more...even in universities it's like that, because they didn't check it in the past
So why say they won't want the baby..
Pregnancy is not terminated in any way
There is no difference in killing a child in its mother's womb
or outside the womb
Who said autism is a disease???? Very strange for those who claim that autism is a disease.
Right
Cambodia, which was a fairly closed country due to a murderous regime, needed financial assistance from the World Bank in the early 2,000s - the World Bank approved the assistance with one condition, to integrate the "Bill and Melinda Gates" fund that deals with childhood vaccinations.
The money arrived and so did the vaccines.
Until Bill and Melinda Gates' venture, they didn't know in Cambodia what "autism" was!
With the children's vaccines, Cambodians learned about a new phenomenon "autism", since the beginning of the campaign autism is present and widespread.
If that's not a "smoking gun", what is?
In the "Amish" community in the United States that lives on organic food, and without vaccinations at all - the phenomenon of autism does not exist.
False culture, comes with prices.
Waiting patiently until they discover the mutation that causes Bibism. This is an even more serious problem. It affects the entire public and not just the carriers.
hey calm down We are talking about a very important topic and you are an anti-bibbit surfer. Don't forget that the gentile does not distinguish between the unholy and the unclean. For you, he killed you too. Without the aspects, you will not have a country. Because your friends preferred to live without children, to breed dogs, and to build a country. Because our enemy is eating us. Keep going out on them. The destruction of the house is very close for the third time, so we almost lost the country. He continues to act like a lunatic like Ehud Barak, but not here. It's not us who decides, it's our enemy.
You don't need to discover the gene for Bibism, everyone whose eyes are in their head, everyone who has basic intelligence, carries this gene, and alternatively everyone who has a lack of understanding reality, is deficient in basic intelligence, lacks the gene
I think you don't like Bibi. It's possible that it's a mutation for you because most of the people know about it.
In the meantime, they found out that the white tribe, which is mostly on the left wing, is the main time for this mutation that causes autism... explains a lot of things
A very difficult mutation that causes a combined bibism to redeem rich people of all kinds.. they are tying the people with corrupt policemen, a people who pay taxes and give their lives in war. How do you prevent such a mutation? 17 years in power? what does that mean
Why mislead the public?
Autistics is a broad spectrum,
So a mutation of what exactly was discovered?
stop because of it
the pregnancy?
You exaggerated!