The first time that a woman looked at her first baby had been healthy, she suffered a heart failure, but she recovered and gave birth to her second child after a few years, and the doctors allowed her to return home with her new child.
But within months, the lady, who was in her early twenties, was transferred to the hospital urgently, as she was suffering from heart failure, and in the end she breathed inside the intensive care unit at Pennsylvania Hospital.
After several years, a new study managed to solve the mystery behind the deterioration of the condition of the health lady, which was that she was suffering from an unnoticed genetic disease.
And the newspaper “Philadelphia Incire” in a report that this woman is one of many adults and adults whose destinies could have changed if they underwent a DNA test.
The study, published in the American Journal of Human Genetics, found that one among every 4 adult patients in the intensive care units deployed within the health system in Pennsylvania had a genetic disease linked to the medical problem that was deposited in the hospital. Half of the number had unknown reasons at the time.
“I thought the number would be worrying, but it was much greater than I expected,” says Theodore Drivas, a specialist in medical genetics at the University of Pennsylvania Hospital and the main preparatory.
The researchers also found that the chances of discovering the genetic disease were varying severely according to the race they belonged to. 63% of patients with white skin were aware of their condition, compared to only 22% of people with brown skin.
The study was based on a sample taken from 365 patients between the ages of 18 and 40, who were deposited in the intensive care units deployed in Pennsylvania, who were registered in the vital bank of Pennsylvania, which is a authority to save the health data used in research. Patient blood samples were reserved in the bank, which allowed Srivas and his team to track their genes retroactively in order to search for pathogenic mutations.
When they followed the genes of a woman, they found that she was suffering from a boom in a gene called “Titan”, known to cause a great danger regarding the heart failure in and after pregnancy, according to the American newspaper.
“We could have dealt with it differently if we knew that.”
The problem of heart failure is exacerbated
Doctors could monitor the functions of the lady’s heart periodically after her second pregnancy, but she returned to her home after birth and did not return until a few months after a few months when the problem of her heart failure was worsened.
Likewise, another patient suffered a multiple expansion of the blood vessels after surgery, and it could have been possible from her if she had undergone her genetic condition.
Although the vast majority of patients included in this study survived death after depositing them in intensive care units, many of them could have received more targeted care if their condition was discovered.
It is not known whether it is possible to improve the results of the patients included in the study. The study did not specify the identity of the patients individually, including the woman who was referred to her death after birth as an example. Drivas stated that the problem is the scarcity of providing genetic tests for adults, even if their conditions are described as critical.
Diffas believes that this study is an invitation to intensive care doctors to do comprehensive genetic tests – which is now widely available and usually does not exceed a few hundred dollars – for all adults, so that no person is left without diagnosis.
Drivas explained that the medical field has been for decades, working on the assumption that the more old, the less likely to have genetic disorders.
This is due to the fact that many genetic diseases appear in early childhood. Doctors tend to search for the so -called “disturbances that begin in childhood”, without searching for those that appear in later stages of life.