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Aurora magazine

Big data helps to steal autism

Researchers are increasingly relying on the big data analysis to study the genetic roots of autism. The purpose is to understand the exact functioning of the disease, as well as to prepare DNA tests that facilitate the diagnosis.

In April 2007, Dr. Micheal Wigler had shown that autistic people are often united by some genetic abnormalities. The mutations are variations in the number of copies (CNV), that is, the presence or absence of repeated DNA portions. The discovery has allowed to explore aspects such as the inheritance of some forms of autism. One day it could also lead to prenatal diagnosis.

Discovery of the role of CNV in autism has prompted researchers to search for all the genes related to the disorder. They focused on those that encode proteins, in samples taken by subjects with family autism cases. The premise was to compare the genes of those exposed to genetic mutations. Thanks to data from more than 600 families, scientists have detected hundreds of genes involved in developing autism. Among them, however, there are 6 genes with a higher role than others.

In 2014, the team carried out two new studies, based on DNA testing of more than 20,000 people. The researchers thus linked 50 genes to autism. Thanks to family analyzes, they also sought genetic variants both hereditary and new. In this way they narrowed the circle to 10 genes. Subsequent studies have added 65 new key genes to the list, plus 6 CNVs.

All of these studies have shown a link between genes and autism. Autism is therefore becoming more and more configured as genetic disease, rather than psychiatric illness. This means that you could combine the data collected with the new genome sequencing tools and statistics. The result could be a greater ease of diagnosis and, why not, preventing the disease.


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A new prenatal test could predict the risk of abortion

A prenatal screening test can predict the risk of spontaneous abortion. In fact, it is calculated that 1 pregnancy 4 is concluded in this way. The rate becomes even higher as the woman's age rises. Glasgow researchers have discovered how to predict this possibility.

During pregnancy the body produces a hormone called corona gonadotropin (hCG). They release the cells that are formed in the placenta. These nourish the ovum after fertilization and after implantation in the uterus, allowing it to develop. In a healthy pregnancy, hCG levels are rising almost immediately in the first trimester.
The researchers examined guinea-pig gonadotropin levels (hCG) in 2,000 women. The participants in the study had just completed the pregnancy test, with a positive result. After the first test, they did a second check eight weeks later. From the data collected, it emerged that those with higher hormone levels had 86% chance of completing pregnancy. For those with very low levels, the possibilities were only 2%.

The discovery allows you to find out in time if your pregnancy will be successful, with a simple test. A useful test especially for those who undergo assisted fertilization. Spontaneous abortions are indeed a very tough part of a child's search process. Knowing for a long time if the conception is followed will allow many couples to prepare psychologically. It would also allow physicians to support these people more effectively.


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Prenatal diagnosis of Duchenne muscular dystrophy begins before conception

A Polish study analyzes how to optimize prenatal diagnosis of Duchenne muscle dystrophy (DMD) and Becker (BMD). According to the researchers, it is crucial to strengthen the controls even before conception. They therefore propose genetic tests that determine the risk of the woman transmitting the disease to the offspring.

The study has an explanatory title: "Prenatal diagnosis of Duchenne and Becker's muscular dystrophy: the underestimated problem of secondary prevention of monogenic diseases". In short, how to identify the subjects at risk first helps get an early diagnosis afterwards.

The researchers at the Warsaw's Institute of Psychiatry and Neurology conducted prenatal genetic tests on 169 Polish women. Among these there were 78 likely DMD or BMD carriers and 23 non-carriers, but with sick children. The remaining 68 were at risk but with an uncertain status. Prenatal tests started in January 1992 and ended in June 2012.

52% of participants with a sick child did the genetic test before conception. The next prenatal test on the fetus had in all cases a conclusive outcome that was negative or positive. Among women with an uncertain status, however, only 60% of prenatal tests gave a conclusive result. A preliminary genetic test, therefore, can optimize the next prenatal diagnosis.


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Hysterosalpingograph: a test for tubal infertility

Hysterosalpingography is one of the diagnostic tests that allow to identify infertility. According to a study led by Professor Kim Dreyer, this methodology could be beneficial for "unjustified" infertility cases. The use of a liposoluble contrast agent, in particular, could have a great impact on fertility. Not all studies agree, however.
Consider an infertile couple after a year of failed conception attempts. In these cases, the possible causes of the problem are sought and hysterosalpingography is one of the standard examinations. It is an invasive and also expensive test, mainly used to assess tube conditions.Hysterosalpingography introduces a contrast fluid inside the uterine cavity and tube. Thus, a radiograph of the

Hysterosalpingography introduces a contrast fluid inside the uterine cavity and tube. Thus, a radiograph of the female female genital system is performed. The result is a kind of mold, from which morphological anomalies may arise. Usually a water-soluble contrast agent is used, easier to absorb. However, there are also liposoluble contrasting liquids, which dissolve in fat.

Professor Dreyer's team has conducted a trial on over 1,000 infertile women, aged 18 to 39. The women were divided into two groups, one for the water solublecontrast fluid and one for the liposoluble contrast fluid. After the examination, 40% of women who showed permeability in the tubes continued with intrauterine insemination. 58% continued with

contrast fluid and one for the liposoluble contrast fluid. After the examination, 40% of women who showed permeability in the tubes continued with intrauterine insemination. 58% continued with management of waiting, or attempts at natural conception. 2% used in vitro fertilization.
It was found that 40% of women who had used liposoluble fluid were pregnant, compared with 29% of the other group. The proportions between conception obtained naturally and with assisted fecundation were similar in the two groups. In addition, 39% of women in the first group gave birth to a live baby, against 28% of the second.

According to the study, liposoluble contrast fluid could help conception. It is still unclear how this will happen. Perhaps the liquid manages to move mucus blocks that block the tubes, but this does not explain the difference between the liposoluble and the water-soluble. Or liposoluble contrast fluid has immunomodulatory effects that help embryo implantation.


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