Aurora magazine

Congenital diaphragmatic hernia is an anomaly that affects about 1 child every 2,500 to 3,500 live births. It is not a hereditary illness except in very rare cases and in 3-5% of cases it is associated with chromosomal alterations. Prenatal diagnosis takes place around the 3rd month of gestation. The abnormality can be resolved surgically, with a survival rate of 70-75%.

In the first weeks of abdominal and chest development are related. Under normal conditions, communication closes by the end of the first quarter. Instead, the person who suffers it has the diaphragm open on the left, on the right or on both sides. This causes the passage of viscera from the abdomen to the chest, removing the lungs and hindering its development. The cause of this deficit in development is still unknown.

The anomaly can be detected by prenatal routine screening tests. Second-quarter ultrasound is usually enough to highlight the problem. In these cases, the heart is in fact displaced by the viscera, which makes it possible to identify the problem even without seeing the actual hole. Once the diagnosis has been made, the doctor checks every 3-4 weeks to check that the fetus is well. As you prepare a strategy to deal with the anomaly.

In some cases prenatal diagnosis does not occur and congenital diaphragmatic hernia manifests itself after childbirth. The child suffers from respiratory crises and the radiograph shows the presence of the viscera in the chest. However, there are subjects with such blurred symptoms to cause late diagnosis, perhaps random.
If there is a prenatal diagnosis, the best thing is that it is born and scheduled. This ensures the presence of a team of specialists, ready to intervene in case of complications. Doctors keep the baby under control and check the amount of oxygen the child needs. Once this achieves some stability, usually after 48 hours of life, they intervene surgically.

The intervention is used to reposition the organs and close the diaphragm. In most cases, once the baby is raised, the baby has a good respiratory function. The lungs develop almost normally and the baby can live like everyone else. There is, however, the risk that hearing and skeletal problems develop.

On 8 April, the first child at high risk was born at the Child Jesus Hospital. The child suffered from congenital diaphragmatic hernia, a condition requiring specialized and immediate care. Today, the baby is well, thanks to the obstetricians of the San Pietro Fatebenefratelli Hospital in Rome, to neonatologists and gynecologists.

At Baby Jesus is assisted with everything relating to pediatric medicine, prenatal diagnosis and gynecology. There is, however, a department for postpartum delivery and delivery. The Lazio Region has given the authorization to create a small department for high risk births. This prevents the transport of very delicate children. Immediate care is also available for immediate intervention, if necessary, even surgically.

In 2017, 30 high risk births are planned, of which 4 are in June. A special committee of obstetricians and surgeons selected the future mothers, depending on the severity of the child's condition. In this way, children will have immediate technical assistance at birth, crucial to their survival.

The children chosen suffer from congenital disorders, neck swelling, and cardiopathies that are potentially lethal at birth. The first born baby, Kevin, is today stable and well. In order to evaluate the condition of the second child it will be necessary to wait a little longer, but for now the prognosis is positive. The doctors still managed to act against the transposition of the large sealed jars. Pathology requires immediate intervention in 20-25% of cases, especially in order to avoid neurological consequences.

Source: observatoriomalattierare.it

A research on the role of a protein in brain development has revealed new genetic causes of behavioral disorders. During the study, researchers at Baylor College of Medicine and Texas Children's Hospital got a guinea pig with clinical symptoms of neurological disorders. The mouse has revealed the genetic causes of the neurological condition of five patients without a diagnosis until yesterday.

The team was studying the connection between an increased function of ATXN1-CIC complex and the development of neurological problems. To get an idea of ​​the role of the protein complex in a normal brain, they decided to analyze even the opposite situation. They then created an animal model lacks the genes involved in the formation of ATXN1-CIC. The mice thus obtained showed signs of hyperactivity, learning disabilities and abnormal social behavior.

The researchers removed the protein from various regions of the brain of mice, so as to analyze the different effects of the transaction. Changes limited in the cortex region are enough to cause a strong hyperactivity in mice. Involvement of the hypothalamus and amygdala, however, resulted in deficits in social interactions. These behaviors are very similar to those seen in people with autism spectrum disorders.

The observation of behavioral abnormalities in mice led to seek a parallel with humans. The researchers used an online database designed for research on rare diseases, called GeneMatcher. They tried subjects with abnormalities in genes related to the formation of ATXN1-CIC and found five individuals. People with the genetic abnormality suffering from behavioral disorders, intellectual disabilities, autism spectrum disorders. They were all free from diagnosis.
The discovery revealed a new possible genetic cause for some major neurological disorders. He also gave an answer to five patients waiting for a diagnosis. This will allow to study new prenatal diagnostic techniques and not for behavioral disorders, as well as to develop new treatments.

Source: medicalxpress.com

Researchers from the Women & Infants Hospital of Rhode Island studied the possible impact of prenatal screening tests. The study shows how the non-invasive tests might become affordable for all women, beyond the presence or absence of obvious risk factors. This would allow time to identify possible anomalies, allowing parents to prepare and proceed with the treatments available.

The fetal DNA tests are designed to detect chromosomal abnormalities. The latest scientific discoveries have made it possible to do so from a single drop of blood, making it much less invasive procedure. This makes the recommended tests not only for women at risk, but also for how many do not would benefit from making an amniocentesis or other invasive testing. Many doctors, including the authors of the study in question, then hope for the expansion of the procedure.

The study analyzes the impact of fetal DNA testing in the context of prenatal routine. The researchers interviewed a sample of women who had carried out analysis of fetal DNA, of different ages and walks of life. They asked the women to talk about their experience, how they had come to test knowledge and what was useful in the context of pregnancy. The responses have confirmed that genetic testing for prenatal screening meet the satisfaction of many women.

Source: sciencedaily.com