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Aurora magazine

The blog about the prenatal genetic of latest generation

Prenatal screening: a new analitic software

Illumina, a company specializing in production testing for non-invasive prenatal screening, announced the arrival of an expanded version of VeriSeq. There is talk of a software intended to optimize the analysis of data obtained from the tests, so as to speed up and improve the results. The company announced that the software complies with the requirements governing medical-diagnostic devices in vitro. It also applied the CE mark to the version destined to the clinical laboratories of the European Union.

The software starts with the analysis of data obtained from the sequencing of the DNA samples. Sequencing analyzes fragments of fetal DNA in maternal blood so as to detect any anomalies. It specifically deals with the identification and differentiation of possible cases of fetal aneuploidy for chromosomes 21, 18 and 13. In addition, VeriSeq generate quantitative scores to be added to the data concerned. This gives you a more accurate analysis of the condition of the fetus.

The new version of VeriSeq allows you to process batches of more than 48 samples, three times the current capacity of 16 samples. This will allow the company to meet the growing demand for testing for non-invasive prenatal screening. The software would make it possible to provide the highest quality solutions and at a lower cost. The greater efficiency in the analysis of the sequenced data, in fact, increase the speed of the controls and consequently also bring down the costs.

Source: businesswire.com

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DNA effects: are they contagious?

A European Bioinformatics Institute of Hinxton experiment reveals that genetics could be "contagious." According to the researchers, in fact, the DNA affects both us and those who live alongside us. Indirect effects of this influence would act on anxiety levels, the immune system and also on body weight. The discovery sheds new light on the study of many complex diseases, with strokes often inexplicable if one considers only the patient's genetic make-up.

It is well known that people and condition each other, especially when it comes to recurring behaviors and habits. The observation on guinea pigs, however, has revealed a genetic basis for the phenomenon in question. Researchers have measured the physical and behavioral traits of different groups of mice, putting them in relation to the genetic traits of cage mates. The data showed that the DNA of the other mice would affect up to 29% of the variation observed in guinea pigs. Changes that would have also touched on factors such as levels of immunity and speed healing.

The discovery could influence the way in which you make a diagnosis. If confirmed, in fact, the social context in which the patient lives will acquire much more importance. Your doctor may need to investigate not only the patient's DNA itself, but also on that of those who live around.

Source: ansa.it

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Fetal alcohol syndrome: characteristics and risks

Fetal alcohol syndrome is a disease that falls in the spectrum of fetal alcohol disorders. This term also relates to diseases such as fetal partial alcohol syndrome, as well as some neurodevelopmental disorders which connect to alcohol consumption during pregnancy. The disease causes mental problems, behavioral and learning. They are also frequent some physical disabilities.

The negative effects of alcohol on intrauterine development are a recent discovery. The first research about it dates back to 1968 and opened the doors to the study of a wide range of fetal disorders. Yet studies show that the chances of damage to the fetus increases proportionally with the consumption of alcohol. The greatest risk occurs in the case of regular consumption of alcohol during pregnancy. however, it required only the alcohol sporadic consumption to impair the development, whatever the time of pregnancy.

The consequences of fetal alcohol syndrome ranging from physical disabilities to mental. Many have heart problems, bone and heard, while others have facial dismorfologie and growth deficits. They are often identified problems through prenatal screening techniques, which can be extremely debilitating during childhood and adult life. The exposure to alcohol in the womb but also causes cognitive and psychosocial limited, much more difficult to spot problems. For this reason, fetal alcohol syndrome in most cases is detected when the child is already of school age.

Consuming alcohol during pregnancy exposes to a risk of about 30% to give birth to a sick child. It is believed that they act different factors in conjunction with the consumption of alcohol, but do not yet know what. For the moment the only valid prevention method is simply avoid drinking during pregnancy.

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Suspected connection between rheumatoid arthritis and juvenile idiopathic arthritis

An international team of researchers has identified a link between rheumatoid arthritis in adults and juvenile idiopathic arthritis. According to the researchers, the JIA has genetic ties with the disease of adults. The discovery could help develop new treatments for the two conditions, as well as help in the diagnosis.

Juvenile idiopathic arthritis is a complex and difficult disease to treat. In fact, the definition includes seven categories of disease, each with its own individual characteristics. Some of these have counterparts in adult illness, with which they share several clinical features. Other studies had explained these genetic contact points between the two diseases, but the data were limited. The genotyping techniques, however, have allowed genetic analysis much more thorough and almost entirely new.

The researchers analyzed 5,043 cases of juvenile idiopathic arthritis and 14,430 ricollegabili other forms of arthritis. They have identified genetic associations between the various forms of juvenile idiopathic arthritis. Did they then compared with inflammatory arthritis adult. Since these operations showed that in both diseases there is an error of human leukocyte antigen-DRB1.

The results will influence future research regarding the genesis of diseases and possible new treatments.

Source: pharmastar.it

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