Aurora magazine

Fanconi anemia is a genetic disease that causes a shortage of red and white blood cells. The cells of those affected also show a large chromosomal instability, with obvious signs of breakage and damage. This leads to growth retardation, malformations and increased susceptibility to tumors.

Who gets it tends to develop leukemia, brain tumors and genital apparatus. Usually it occurs at school age and gets worse with each passing year.

Researchers have identified to date 15 genes involved in the development of Fanconi anemia. Of these one is present on the X chromosome, causing a variation that occurs in males and females remains dormant, which become healthy carriers. Other changes will instead transmit an autosomal recessive trait: if both parents pass the affected gene to the child, they get sick.

Malformations and abnormalities in blood tests are the first warning bell. The actual diagnosis provides a cytogenetic examination, which serves to measure how the chromosomes are unstable in the presence of certain chemical compounds. In the event of cases in family, it is also recommended that you hire any prenatal test, which checks for the presence of the genes responsible.

At the moment, the only available treatment is the transplantation of stem cells, prelevale from the umbilical cord or bone marrow.

The Shoukhrat Mitalipov Group, University of Oregon, has undergone a technical test of fertilization to three parents. The center of research on gene therapy has now published the results in the journal Nature. According to the article, the technique is not only safe, but it could prevent 99% of inherited diseases from the mother.

Some genetic diseases are transmitted only through the mother. The anomalies are in fact only in the DNA of the mitochondria of the ova, the energy units of cells. A much-discussed prevention technique involves the use of an ovum donated, devoid of nucleus. The scientists inserted the DNA into the nucleus of the mother and fertilize the whole. The result is a technically son embryo of three parents, given that presents the DNA of three persons: the one of the two parents and the mitochondrial donor. For the moment the technique is legal only in the UK and led to the birth of a baby, perfectly healthy.

Article University of Oregon is the case of a group of women with mitochondrial diseases. Three of these are carriers of Leigh syndrome and the Melas syndrome. Both are diseases that affect the quality and length of life, since the first is a progressive neurological disease and the second causes seizures. The researchers used the technique of fertilization to three parents and obtained embryos with 99% of healthy DNA.

The low percentage of mitochondrial DNA found in embryonic cells proof that the technique is safe. This should lessen the doubts about its applicability and open to the doors of other countries.

The DNA analysis then becomes more and more important both from fertilization, both prenatally. With fetal DNA testing you can indeed get important information about the baby's health before birth.

Source: ansa.it

A study at Stanford University suggests a link between high levels of glucose in pregnancy and congenital heart disease. The discovery could help identify women whose children are most at risk, so as to direct them towards a specific prenatal screening.

The researchers measured levels of sugar than 19,107 pregnant women, starting from four weeks before conception until the end of the first quarter. Of these 74 they were suffering from gestational diabetes and 811 of congenital heart disease. The mean glucose level in healthy women was 96 mg / dl, 107 mg / dl in women with heart disease. They then crossed the data with any diagnosis of congenital heart disease in children.

Every 10 milligrams per deciliter of more, the risk that the child born with congenital heart disease saliva. Scientists have also detected the phenomenon in patients without other risk factors, such as too high body mass, age, and diabetes. Between weeks 24 and 28, however, the phenomenon has declined. From this time, in fact, the blood glucose levels are untied results from the development of heart disease or less in the child.

The discovery could help develop new methods for prenatal diagnosis of congenital heart disease. Enough glucose analysis in the first weeks of pregnancy to see if it is appropriate to go deeper. Despite many cardiac diseases are detectable with a simple echocardiography, it is difficult that a mother-to perform these tests without specific reasons.

One of the questions raised by the discovery, is the nature of the relationship between glucose levels and heart disease. Abnormally high levels of glucose cause the development of congenital diseases, or are a symptom of other phenomena in progress? other studies will be needed to find out.

Source: medscape.com

According to one New Zealand study, sleep on your back during pregnancy could harm the fetus. According to the researchers, the location would put the fetus under stress and increase the risk of miscarriage.

The data are preliminary, however. According to Hannah Knight, of the Royal College of Obstetricians and Gynaecologists, the data presented by the study are inconsistent and fail to connect maternal position and health of the fetus. So it is still early to give guidance on how to sleep to pregnant women.

Researchers at the University of Auckland have involved 29 women between week 35 and week 38 of pregnancy, all perfectly healthy. They have monitored their sleep belly up, belly down, on the left and on the right side by side. Women have held each position for 30 minutes. When women were sleeping on your back or on the right side, the fetus tended to fall into a state of drowsiness. In this condition, the fetus was using less oxygen, rather than when the women were sleeping on the left side.

According to the researchers, the position on the back would force the fetus to adapt to an oxygen decrease. This would increase the stress, and in the presence of additional stressors, it could in the long run hurt him. Also a similar study in 2011, conducted this time of 500 women, had estimated that 4 mothers who sleep on their backs in 1000 would incur in a miscarriage. An interesting, if comparison with the 2 women who sleep on the left side in 1000 who incur the same problem.

The study is still partial and preliminary. All women involved have terminated their pregnancy on time and without problems. For the moment, therefore, it is not to be concerned.

Source: livescience.com