trustpilot Fantastic service
Great service with regard to both information…
logomysorgente

02  4948  5291

Aurora magazine

The blog about the prenatal genetic of latest generation

Prenatal screening tests: benefits

Researchers from the Women & Infants Hospital of Rhode Island studied the possible impact of prenatal screening tests. The study shows how the non-invasive tests might become affordable for all women, beyond the presence or absence of obvious risk factors. This would allow time to identify possible anomalies, allowing parents to prepare and proceed with the treatments available.

The fetal DNA tests are designed to detect chromosomal abnormalities. The latest scientific discoveries have made it possible to do so from a single drop of blood, making it much less invasive procedure. This makes the recommended tests not only for women at risk, but also for how many do not would benefit from making an amniocentesis or other invasive testing. Many doctors, including the authors of the study in question, then hope for the expansion of the procedure.

The study analyzes the impact of fetal DNA testing in the context of prenatal routine. The researchers interviewed a sample of women who had carried out analysis of fetal DNA, of different ages and walks of life. They asked the women to talk about their experience, how they had come to test knowledge and what was useful in the context of pregnancy. The responses have confirmed that genetic testing for prenatal screening meet the satisfaction of many women.

Source: sciencedaily.com

Add a comment

Breast cancer: the importance of genetic testing

A study by Allison W. Kurian, University of Stanfort, reveals that very few women with breast cancer diagnosis have used genetic testing. The team involved women between 20 and 79 years suffering from forms of the stage 0 breast cancer at stage 2. The researchers asked the patients to answer the questionnaire two months after the tumor removal operation. The response has indicated that only 29% of patients had carried out genetic tests.

The tests for the identification of the BRCA1 and BRCA2 genes are available for over 20 years. In recent years, thanks to advances in technology and science, have become more effective and less expensive. Nevertheless, there are still few patients know the benefits arising from the tests. The study therefore investigated how many patients would have carried a genetic test; how many patients they had talked to a doctor; how many had been performing the genetic test.
Of all the patients interviewed, are more than 2,500 women who responded to the questionnaire, namely 71%. Of these, 66% said that they would carry a genetic test, but only 29% have actually done. Of this 29%, 62% were high-risk women who had consulted with a doctor about it. What is amazing is that only 40% of high-risk women had been advised to take the test by a doctor. This means that many women have not been made aware of a large prevention weapon.

Only 53% of high-risk patients had in fact performed the genetic test. According to the study, much of the blame would be treating physicians, that they would not recognize the high-risk situations and the importance of a genetic test. Contrary to what previously believed, the cost of genetic screening would have a role, but not of primary importance.

Source: eurekalert.org

Add a comment

Hypertension: causes and risk factors

High blood pressure is a condition that causes an increase in blood pressure in the arteries. It affects about 30% of the adult population and increases the risk of cardiovascular diseases such as myocardial infarction, stroke and other diseases of the cardiovascular system.

There are three types of blood pressure: systolic hypertension, when it only raises the maximum pressure; diastolic blood pressure, when you raise the minimum pressure; systolic and diastolic blood pressure, when both the minimum and maximum exceed the average values. The systolic pressure is spread mainly among the elderly, as it is mainly the result of aging. On the contrary, the diastolic blood pressure affects mainly the younger subjects. In all these cases, it is good early identification of the disorder and apply the right treatment, which will also change based on possible causes of hypertension.

95% of cases of high blood pressure is called primary hypertension or without a cause can be immediately identified as a pre-existing disease. This type of hypertension is the result of a set of environmental and genetic factors, that alter the mechanisms that control the pressure. Poor eating habits, smoking and substance abuse increase the risk of incurring the trouble, especially in genetically predisposed individuals. Once the pressure levels were altered, it can be controlled only by means of pharmacological treatments.

In 5% of cases are referred to secondary hypertension, caused by a congenital or acquired disease. In these cases, high blood pressure is just one of the symptoms of the disease and it is easy to identify the causes. Wherever possible, just treat the underlying disease that the values ​​normalize.

Add a comment

Hypertension: scientist identify new genetic factors

A group led by Mark J. Caulfield, Queen Mary University of London, has identified 107 regions of DNA linked to hypertension. The discovery could help identify patients most at risk, offering them of early treatment. It will also facilitate the search for new drugs against high blood pressure.

The researchers analyzed 9.8 million genetic variants detected by the genetic material of more than 420,000 Britons. They then compared the results with the blood pressure levels of the subjects. The comparison emerged 107 DNA regions expressed especially in the blood vessels and cardiovascular tissue, spread among those suffering from hypertension. These regions may become a target for new drug treatments, improving the quality of life of a large number of patients.

From the stories of the data, the researchers developed a method to identify those most at risk of stroke and cardiovascular disease. The technique involves a points system, which assigns a more or less high risk score based on blood pressure and genetic predisposition. According to this system, every 10 millimeters of mercury in the blood pressure more, the risk can also go up by over 50%.

The method could help identify those at risk from the earliest years of life. This would allow them to adopt the style of better life to avoid complications, as well as to resort to custom treatments. This would make it possible to save the lives of hundreds of people, drastically reducing the risk of heart disease and stroke.

Source: salute24.ilsole24ore.com

Add a comment