Aurora magazine

Many parents with children with developmental problems are also afraid of any pregnancies to come. In some cases, it is possible to use prenatal screening tests. What to do instead when dealing with hereditary diseases?

In some families there is a 50% chance that the second child will also have problems, although mutations are not present in either parent. For this reason, the team led by Dr. Ummi Abdullah is developing a way to identify such cases. His study aims to identify couples at high risk, calculating the so-called "recurrence risk".

The focus of the study is on families with at least one sick child, in which, however, neither parent is a healthy carrier of the mutation. According to the team, mutations could only be present in spermatozoa and oocytes, escaping normal genetic testing. The phenomenon is called gonadal mosaicism.

The researchers analyzed the tissues of 20 families, derived from both parents and children. The analyzes revealed some cases of mosaicism in the parents, the most serious of which deriving from the mother. The genetic mutations of this type inherited from the father, on the other hand, seem to have a far lesser recurrence.

For now, the test can give a reliable answer to about 3 out of 4 couples. However, further studies will be needed to prove the validity of the procedure, which is why clinical trials are still ongoing.

Source: medicalxpress.com

Congenital heart disease is a malformation of the cardiovascular system. They are defined as "simple", when there is a defect in the septa or a valve malformation. Instead, there is talk of complex heart disease when there are multiple defects. Heart disease is present from birth and often the precise genetic cause is not known.

Some malformations are related to precise chromosomal alterations, but in many other cases there is no clear explanation. It is known that abnormalities develop during fetal life, affecting the correct formation of the cardiovascular system. They usually remain silent throughout gestation, manifesting only after birth. Fetal echocardiography can detect many congenital heart defects, with absolutely non-invasive tests.

Usually the analysis requires 30 minutes of time, more if you are faced with a complex form. In the latter case, more invasive forms of diagnosis may be needed, such as cardiac catheterization. In the absence of prenatal diagnosis, congenital anomalies are identified starting from small murmurs to the heart detected by the pediatrician. These can be innocent murmurs or a symptom of pathology, in which case it is worthwhile to rely on a pediatric cardiologist.

About 50% of heart disease is detected in this way, within the first month of life. This allows intervention with surgical therapy as soon as possible. Surgery in congenital heart disease has a high probability of success, with almost immediate improvements. Children can lead an almost normal life, despite having to take precautions regarding sports activities.

Source: ospedalebambinogesu.it

As we have said in more than one article, it is difficult to diagnose rare genetic diseases. Also for this reason, in recent years studies are underway to develop new prenatal screening and genetic tests. Scientists from the University of Bonn have developed artificial intelligence to facilitate the diagnosis of rare diseases.

The researchers used data from 679 patients with 105 diseases caused by variations in a single gene. The diseases used cause intellectual and physical disabilities; some of these cause obvious malformations. The developed software has collected and processed all patient data, including: characteristic features of the face; clinical symptoms; genetic data. At this point, they trained artificial intelligence using around 30,000 images of people with rare genetic diseases.

The software used facial analysis as a first filter, in order to concentrate subsequent analyzes on a limited range of pathologies. The results of the study are proving positive. The software allowed to solve some cases that had remained unanswered, improving the rate of diagnosis. Used systematically, the software could shorten the time and reduce the risk of misdiagnosis. In this way it would be easier to intervene quickly and offer a better quality of life to patients.

Source: uni-bonn.de

According to a study by the Norwegian Institute of Public Health and the Østfold Hospital Trust, a diet rich in fiber during pregnancy reduces the risk of celiac disease for the fetus. The researchers analyzed data from 88,000 Norwegian children and their mothers, all born between 1999 and 2009.

During the last 22 weeks of gestation, the mothers had answered a series of questions regarding nutrition. Among these there was one concerning the quantity of fiber and gluten consumed. 11 years after giving birth, the researchers verified how many children were celiac and crossed the data with those previously collected. There were 982 celiac children, so about 1% of the study participants. Women who consumed more than 45 grams of fiber a day were 34% less likely to have a celiac child. This compared to women who had consumed small amounts of fiber, holding around or even below 19 grams per day. For every 10 grams of fiber consumed more, the chances of the child being celiac fell by about 8%.

Furthermore, fruit and vegetable fibers seem to be linked to an even lower risk. This is one of the first studies that analyzes the connection between fiber consumption in pregnancy and celiac disease. Also for this reason, researchers are cautious: the data are only preliminary and it is early to outline an "anti-celiac" diet.

Further studies will be needed to understand if the two phenomena are effectively linked and not only correlated. At the moment it is unclear what the causal correlation between the two phenomena would be.

Source: livescience.com