Aurora magazine

The Professor Ronald Wapner team identified point mutations responsible for 7.7% of the most serious birth defects, as well as other mutations responsible for 17.9% of other anomalies. To do this he used a new type of sequencing the entire fetal genome, which is based on exome. The method has provided information impossible to obtain with only the analysis of karyotypes or with DNA microarray. This will refine the noninvasive prenatal screening techniques.
The exome makes up about 1.5% of the human genome and encodes proteins. It determines how the genes are expressed and can reveal traits related to gender or a recessive chromosomes, not identifiable with DNA microarray.

According to the researchers, you can hide here the causes of many fetal anomalies not yet identified. At the moment, in fact, the analysis of karyotypes allows to identify about 30% of the anomalies, while the DNA microarray can identify another about 7%. They are techniques that can help you identify many diseases and complications once impossible to find, but you can do better. The purpose of the study was to determine precisely the incremental value of sequencing the entire exome in sequential cases, unselected of fetal structural abnormalities.

The team of researchers examined the patients with symptoms of a fetal abnormality. For women who were still practicing prenatal diagnostic tests, the scientists used a sequencing of the entire exome, analysis of karyotypes or DNA microarray. For others, they have made use of umbilical cord blood. Where possible, they also sequenced DNA from mother and father, to pinpoint the source of any mutations. All this has allowed us to identify a number of pathogenic variants of which first it was suspected the importance, but for which there was no proof.

The sequencing of the exome can help identify phenotypes of de novo mutations, which appeared for the first time in one of the parents and then transmitted to the children. This kind of abnormalities often manifests itself only much later in childhood or even in adulthood. New prenatal diagnostic tests will help however not only to identify, but also to understand its nature and to reveal any unexpected effects. During pregnancy, it is important to monitor the development of the fetus. Prenatal screening tests such as fetal DNA tests are useful for the detection of chromosomal abnormalities.

Source: medscape.com

According to researchers from the National Institutes of Health, conceiving becomes more difficult if both of the intended parents are obese. Compared with the normal weight pairs, the obese need at least 55% more time so that their efforts are to succeed. Many other studies have shown that the weight of the mother affects the couple's fertility, but this is one of the first to take into account also the father of the weight. The discovery will affect in an important way how they deal with fertility issues, focusing particularly on the body of both partners account.

The 501 couples involved were part of the Longitudinal Investigation of Fertility and the Environment (LIFE) Study, a study to examine the relationship between fertility and exposure to chemicals. The women ranged from 18 to 44 years, men aged 18 and older. All women have kept up to date until the pregnancy a diary of the cycle, intercourse and pregnancy test results. The researchers also calculated the body mass index of each participant, splitting couples obese into two groups: obese class I and class II obese, according to the severity of the disorder.

The team compared the average time to conceive couples with that of non-obese class II pairs, the most severe form of obesity. The researchers have thus calculated the probability of conception by means of a statistical measurement system, which also takes into account the body mass index. It is thus found that the couples suffering from obesity class II have a lot more trouble conceiving than those of normal weight. Those examined have in fact employed 55% of the time more than their counterparts. Not to pollute the data, the researchers also taking into account factors such as age, smoking and level of physical activity.

Until now scientists have only focused on the woman's weight. With this study, it becomes clear that even the physical condition of the father affect your chances of conceiving. It will be so good that even the aspiring dad take account of its own weight. Pregnancy is a time of joy for prospective parents. The mother must be thinking even now the baby's own health that can be monitored with prenatal screening tests

Source: eurekalert.org

Is there a link between the number of pregnancies and the increased risk of heart problems? If you have wondered and researchers Jorge A. Wong McMaster University and Christine M. Albert of Brigham and Women's Hospital. According to the study, cross a large number of pregnancies could increase the risk of incurring cases of atrial fibrillation later in life. Atrial fibrillation is an anomaly in the heartbeat that can cause blood clots, strokes, heart attacks and other cardiac complications.

The researchers analyzed data from more than 34,600 participants in the Women's Health Study. The women had an average age of 53 years and an average of two pregnancies behind. At the beginning of the study they were all healthy. Scientists have completed their annual questionnaires and have seen for about 20 years. In that time there were about 1,500 cases of atrial fibrillation. Many of these phenomena have affected women more of the 2 medium pregnancies behind. The participants with 4 or 5 pregnancies have had an atrial fibrillation rate about 50% higher than women who had never been pregnant.

The connection between multiple pregnancies and heart problems may be caused by hormonal changes, physical and psychological affecting mothers. The purpose of the study is not to discourage multiple pregnancies, but make them safer and healthier for mothers and children. Understanding the way in which 4 or 5 pregnancies affect the heart may help prevent these problems, so that the mothers can live to adulthood with more serenity.
A separate study has moved on a similar trail. A team led by Lauren Tanz Harvard and Janet W. Rich-Edwards of Brigham and Women's Hospital has focused on the effects of preterm birth. The researchers analyzed data from more than

70,000 women who had given birth before 37 weeks of gestation had a 40% higher chance of having cardiovascular problems. The risk increased to 100% higher in women who had given birth before week 32.
Both studies shed new light on the long-term one or more pregnancies. For the moment we know little or nothing of what are the possible complications in the years to come. But the research could help a lot of research on cardiovascular disease in women. Pregnancy is an important time in which the mother has to take care of his health and that of the unborn future. In this sense, the pregnant woman can undergo several examinations of prenatal screening useful for detecting chromosomal abnormalities in the fetus.

Source: eurekalert.org

An international study published in the journal Nature reveals the 83 genetic variants which affect the height. Although rare variants, their effects can change the height of a person even of 2 cm. It follows that the height is so determined by the genetic information passed from parents, but also by factors up to now neglected. The discovery will help to develop treatments that will promote growth, as well as to better understand the dynamics behind the development of some diseases.

The study involved more than 700,000 people, including more than 250,000 genetic variants studied. Among these it has emerged 83 relevant for height determination. Among the genes involved there are also those that determine the development of cartilage, bone development, the production of hormones. Unlike other variants identified in the past, these are uncommon or even rare. In fact, they act directly on proteins, which makes them much more significant effect.

With the discovery could treat growth problems caused by genetic factors. For example, making the inactive STC2 gene can increase the height of the wearer. One could then think of a drug that blocks the activity, so as to render more easy the growth. The same technique also allows you to identify the risk of developing diabetes, schizophrenia, heart disease and various cancers.
The success of the study has helped the amplitude of the sample considered. The high number of participants allowed to thoroughly study the biological and genetic basis of the mechanisms of growth, as well as those of some diseases. The next step will be, however, expand even more the sample, involving more than 2 million people.

Source: lescienze.it