Aurora magazine

Moving one embryo at a time doubles the chance that the IVF cycle ends with a healthy baby. He grabs a study from the University of Colorado and Duke University.

Many women who turn to IVF choose to implant more embryos at a time. They hope to increase the chances of success and possibly reduce costs. Nevertheless, the scientific community strongly recommends the opposite.

In vitro fertilization techniques increase the chances of multiple pregnancies due to the above trend. In turn, twin parts expose the children to premature and underweight parts. That is why we should do everything to ensure that the womb reaches only one fetus at a time.

The researchers analyzed the health status of infants born with IVF using either fresh or cryoconvative oocytes. The data collected over 30,000 women who underwent in vitro fertilization between 2012 and 2014. From what has emerged, there are no significant differences between children born using fresh and frozen oocytes. On the other hand, multiple pregnancies have once again proved to be much more risky than single ones.

In a multiple pregnancy, 22.5% of IVF cycles with frozen oocytes and 31.9% of those with fresh oocytes occurred. A worrying trend, given also the lack of information on the risks of multiple pregnancy. Bringing two or more children into the womb is both a risk for the mother and the baby. The latter are more likely to be born before time and underweight.

Source: medscape.com

The nusinersen drug could prolong the life of children with the most severe forms of spinal muscular atrophy (SMA). Treatment improves motor functions and increases the chance of survival without artificial ventilation support by 47%. This is what emerges from a study led by Dr. Richard S. Finkel of Nemours Children's Hospital.

The nusinersen has recently been approved in the United States, Japan and Italy. A decisive news for children with SMA type 1. Those who suffer from this form of the disease, in fact, have very limited motor functions and tend to live very little. However, the study studies the efficacy of the drug on these subjects as well.

Treatment with nusinersen modifies the SMN2 gene by means of an antisense oligonucleotide, a fragment of synthetic DNA. Doctors inject it directly into the spinal cord. Nerve cells absorb DNA and increase the production of absent protein in SMA patients. The process stimulates the development of motoneurons and improves motor functions.

The study involved 121 newborn babies with type 1 SMA. Half of them received the drug, the others did as a control group with a placebo. After 13 months, 41% of those who received the nusinersen showed improvements in motor functions. Many of them started to kick, move their heads, sit and stand. Improvements absent in control group children.

All participants in the first phase were involved in a second phase. The purpose of the new study will be to analyze drug effects over the long run.

Source: nemours.org

Breast cancer is getting easier to detect and prevent. Two BCCs (Breast Cancer Association Consortium) have discovered over 60 genetic variants that predispose to the disease.

The new variants are more widespread than the more famous ones that touch the BRCA1 and BRAC2 genes. Compared to the latter, they pose a lower risk, especially if taken individually. However, some subjects have two or more mutations combined. In this case, the chances of a tumor are high enough to justify a preventive intervention.

For the discovery, researchers have been using the DNA of over 137,000 women with breast cancer. They also analyzed the genetic heritage of 18,900 women with BRCA mutations and 119,000 healthy women.

Thanks to the study, the number of abnormalities associated with breast cancer is 167. Of these, 125 are associated with Er-negative tumors, on which hormonal therapies have no effect. All this confirms how genetic factors affect cancer predisposition. Beyond the few families with a very pronounced predisposition, there are fewer but important factors.

Along with the findings already made and current DNA testing, the study promises to facilitate early diagnosis of the tumor.

Source: ansa.it

It is possible to measure the risk that the fetus develops Angelman's syndrome with non-invasive prenatal screening. According to a Texas Children's Hospital study, it would suffice for a fetal DNA test to rule out the appearance of the disorder.

Fetal DNA tests have been available since 2011. They are used to detect chromosome abnormalities at the base of Down syndrome, Edward syndrome, and Patau syndrome. Because they analyze the fetal DNA in the mother's blood, they are completely safe for both the mother and the baby. Thanks to the study, it seems that the number of diseases that can be identified in this way has just grown.

Doctors use the fetal DNA test to verify the presence of too many chromosomes. In addition, the test is also useful for diagnosing disorders caused by the absence of chromosome parts. The Texan researchers have decided to test whether the test could predict other disorders.

They analyzed 712 samples already tested with fetal DNA testing. All samples had been classified as high risk of chromosomal anomalies. The purpose was to check whether the presence of false positives and what the disorders were.

Fetal DNA tests failed to detect the presence of Angelman's syndrome with sufficient precision. The same applies to other disorders such as Crypto-Chiral syndrome and Prader-Willi syndrome. However, they proved to be very effective in excluding Angelman's presence.

Discovery is especially relevant for those who have had examples of Angelman's syndrome in the family. In these cases, fetal DNA testing is able to exclude the presence of the syndrome with close to 100% accuracy.

Source: angelmansyndromenews.com