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Aurora magazine

The blog about the prenatal genetic of latest generation

Stressful events reduce the child's future fertility

Men whose mothers have been very stressed in the first 18 months of gestation are less fertile. The discovery comes from the Western Australia's Raine Study, a multigenerational study conducted on men between 20 and 30 years old.

According to the researchers, the male reproductive organs are particularly vulnerable in the first weeks of gestation. To prove it, between 1989 and 1991 they recruited nearly 3,000 women at the 18th week of gestation. During these years, they submitted questionnaires to them about any stressful events that occurred just before conception and in its early stages. The questions included death, divorce, marital problems, loss of work, financial problems.

The participants gave birth to 2868 children, of which 1454 boys. Of these, 643 have continued to participate in the study to date. The researchers examined their reproductive functions with testicular ultrasound examinations and sperm analysis. In a second step, they crossed the data collected with the answers given by mothers during gestation, looking for possible links between fertility and maternal psychological conditions. 63% of men had been exposed to at least one traumatic event in prenatal age, at the earliest stages of gestation.

The tests showed that they have less sperm and less motility. To make the results more precise, the researchers also took into account other factors that could affect reproductive health, not related to maternal health. Even excluding other variables, men exposed to very stressful events in the early stages of life have 36% less sperm. Furthermore, motility is 12% lower and testosterone levels are reduced by 11%. There is therefore the possibility that maternal psychological health can really damage or improve the future fertility of children.

Source: eshre.eu

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Fainting in pregnancy could be a bad sign

Small fainting has always been considered a pregnancy symptom in the early stages. A new study sheds new light on the phenomenon, which could be linked to health problems for the mother and the child.

Researchers from the Universities of Alberta and Calgary analyzed the birth records of 481,930 children, all born between 2005 and 2014. During the study, they also examined the medical records of mothers during and one year after birth, looking for any cases of fainting. About 1% of women had had such cases, about a third in the first trimester of pregnancy.

The cases of fainting in the first trimester were linked to a higher rate of preterm parts. A higher than average number of children was found to have heart problems and the mothers had further cases of fainting. The phenomenon also seems to be linked to a greater number of congenital anomalies, especially when there have been multiple fainting. Fainting is temporary loss of consciousness, usually caused by a drop in pressure and a lack of oxygen in the brain.

Pregnancy hormones can accelerate the heartbeat and relax the blood vessels, causing the aforementioned fainting. The phenomenon should be reported to your doctor, to increase controls and reduce the risk of any negative consequences. According to the authors of the study, fainting could indicate a greater predisposition to cardiovascular diseases. They should therefore be treated as more than an anecdotal event.

Source: folio.ca

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A prenatal test for sickle cell anemia is under development

To date, to diagnose sickle cell anemia in a fetus requires an invasive test, which involves a risk of miscarriage. A team of British researchers decided to solve the problem by developing a non-invasive prenatal screening test even for this disease.

Dr. Julia van Campen explained that the test works like the traditional fetal DNA test. The doctors isolate the cells of the fetus present in the maternal blood, in order to analyze its DNA. If the test is negative, everything is fine. If it is positive, we proceed with more invasive controls.

The test should be used for couples where both parents are carriers of sickle cell disease. In fact, for the disease to manifest itself, it is necessary for the child to inherit the sick gene from both parents. There is therefore 1 possibility out of 4 that the child of a couple of carriers becomes ill. Unfortunately it is not easy to develop a non-invasive prenatal test for such a disease. Over the years there have been attempts, all failed. Until today, at least.

The researchers analyzed samples from 24 pregnant women carrying sickle cell disease. Using a unique molecular identifier, they were able to analyze tiny DNA fragments taken from the 8th week of gestation. The test proved to be reliable in 21 cases out of 24 and only in 3 cases gave unclear results. This is only a first step, but the authors of the study are confident of being able to develop a reliable test even for this disease.

Source: medicalxpress.com

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Congenital heart disease is the result of three genetic mutations

Congenital heart disease affects about 1% of newborns. Sufferers must undergo numerous operations and undergo pharmacological treatments throughout their lives. In some cases, even a heart transplant is needed. Despite the occurrence and the many efforts to get more and more severely diagnosed, for many patients the cause of the disease is still a mystery.

According to this study, the reason is that there are more genes involved. Researchers from the Gladstone Institute and the University of California have identified three genetic variants related to the disease, all hereditary. In the families in which they occur, there are multiple cases of heart disease even at a young age. It is therefore probable that the fault of the pathology is not of a single mutation, but of so many masses.

Everything starts from the study of a family with numerous cases of congenital heart disease. One of the couple's children had just survived a delicate left ventricular surgery. The spouses already had a child with a similar illness and had suffered an abortion in the first trimester. The researchers then analyzed the hearts of the two parents: the mother was healthy, while the father had a very mild version of the child's condition. From these observations, the researchers sequenced the DNA of all family members.

They discovered that the father was a carrier of two mutated genes, MKL2 and MYH7, both linked to a greater risk of heart disease. The children inherited both mutations from the father and a third from the mother, the one on the NKX2-5 gene. All three together, the mutations caused the onset of the disease.

Source: gladstone.org

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