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Aurora magazine

The blog about the prenatal genetic of latest generation

The future English mothers need better assistance

Better medical care could have saved about 2 English women out of 5, who died during delivery or soon after. This is what the report Confidential Enquiry into Maternal Deaths and Morbidity reveals.

The researchers analyzed 124 cases of women who died in childbirth in the United Kingdom. They found that 41% of them would be saved if they received better medical assistance. The study invites doctors to follow more patients, also warning them not to take drugs without a prescription.

According to data, almost 9 women died in the UK between 2013 and 2015 in the course of childbirth or soon after. Of these, two thirds died due to pre-existing physical or mental illness. Only 35% of these had received adequate medical care, while in 41% of cases there were deficiencies. Out of 9 deaths from epilepsy, 7 could have been avoided with more careful care.

Scholars found that a good number of women who died from epilepsy had stopped treatment. According to research, neither they nor the doctors who were treating them had considered the possible effects of the choice. This reveals the need to address not only a gynecologist, but also a specialist in the case of such diseases. It is also important to warn the specialist if you are planning to become pregnant.

Source: theguardian.com

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Progression of Huntington's disease slowed

Professor Sarah Tabrizi of the University of London announced the first positive results in the fight against Huntington's disease. Phase 1 of trials for a new drug was successful. Treatment has slowed the progression of the genetic disease, offering for the first time a concrete hope. In fact, current treatments only allow the symptoms to be mitigated, but they do not affect the disease itself.

The drug is composed of a strip of synthetic DNA, adaptable also to other neurodegenerative diseases. The approach could therefore offer hope also against Alzheimer's and Parkinson's. For the time being, however, the results only concern Huntington's disease.

Huntington's disease is caused by an inherited genetic variation. The defective gene gives instructions to produce a toxic protein, copied from messenger molecules and spread in the brain. The drug is called Ionis-HTTRx and intercepts the molecules, destroying them before the protein spreads. The administration involves an injection directly into the fluid surrounding the spinal cord. In this way the drug reaches the brain and does not disperse.

Phase 1 of the trial involved 46 women and men in the early stages of the disease. The doctors injected four doses of the drug half a month away from each other. With each injection, they increased the dosage. The other half received a placebo. Subjects who received the drug showed a decrease in protein levels.
Although the results are positive and bode well, a broader study will be needed to confirm them.

Source: theguardian.com

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Many women choose non-invasive prenatal screening

The majority of women with high or medium risk choose non-invasive prenatal screening as a secondary test for trisomy 21. This is revealed by a study published online in the International Journal of Obstetrics and Gynaecology. According to the authors, the fetal DNA test would be used by most Chinese women to verify the data of the first test.

Dr. Yvonne Kwun Yue Cheng from the University of Hong Kong followed a group of women who underwent prenatal tests. The women involved were considered high or medium risk. All had a genetic test for the trisomies 13, 18 and 21 and for all the results had been positive.

The standard procedure provides that a positive genetic test result is followed by a confirmation test. In addition to the amniocentesis, the options also included a precise, completely non-invasive fetal DNA test. Women were also free to refuse further tests.

Of the 347 high-risk women, 99% chose to perform a further prenatal screening test. Of these 216 (62.2%) they chose the fetal DNA test. Among the 614 participants at medium risk, however, as many as 507 (82.6%) chose the fetal DNA test. Among the 34 women who performed nuchal translucency, 21% chose non-invasive prenatal screening as a second test.

In a context where response times and costs were similar, most women chose the non-invasive prenatal screening test. Nevertheless, according to doctors, the best combination remains a fetal DNA test followed by a possible amniocentesis.

Source: medicalxpress.com

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CERN helps medical research against cancer

The new CERN MEDICIS facility has produced radioisotopes for medical research for the first time. The goal was to provide a wide range of radioisotopes, some of which can only be produced by CERN itself. Radioisotopes will primarily be used in hospitals and research centers in Switzerland and Europe. The doctors will use them for diagnostic purposes and for cancer treatments.

Radioisotopes are used in precision medicine to diagnose tumors and heart disease. They also serve to direct small amounts of radiation exactly where needed. In this way the tumor is hit and very little healthy tissue is touched. CERN MEDICIS has created special types of radioisotopes, thus expanding the number of applications.

Radioisotopes are defined as naturally radioactive isotopes. Some types are found everywhere in minimal quantities, while others do not exist in nature. To obtain the latter it is necessary to use a particle accelerator. MEDICIS researchers used a proton beam present at ISOLDE, a CERN laboratory. They thus obtained Terbium 155Tb, a promising radioisotope for the diagnosis of prostate cancer.

The scientific community extensively uses radioisotopes, but many of these are not the best for their intended purpose. MEDICIS aims to create radioisotopes tailored to the various needs, so as to improve diagnostics and therapies. Once the radioisotopes have been extracted, the researchers attach them to a molecule so that it binds to the tumor. This makes them injectable in the area affected by the tumor, without affecting other parts of the body.

Source: phys.org

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