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Hyderabad: Till a few years ago, the concept of genetic tests for pregnant women to foretell the possibility of passing on a defective gene to the baby was alien. More often than not, the medical condition of a just-born baby was dependant on a genetic lottery, where genes are inherited from the parents.

While we are still far away from accurately predicting diseases of an infant even before it is born, the present-day advancements in modern genetics and diagnostic tests have now made it possible for caregivers to accurately predict a slew of inherited diseases by the first trimester of the pregnancy.

There are genetic tests that can come up with risk scores for specific diseases such as Down Syndrome, Klinefelters syndrome, Patau syndrome, Wilson Disease, Polycystic Ovary Syndrome (PCOD), metabolic defects, congenital heart diseases and even reasons behind repeated abortions among women.

Inherited or genetic diseases among children take a significant toll not only on the quality of life of the children but also on the families in numerous ways. There is no treatment or permanent cure available for children suffering from such ailments. As a result, parents and children end up emotionally drained and families often find themselves in financial distress due to the heavy costs involved in the management of genetic diseases.

Once a child is born with such inherited diseases, like thalassemia, haemophilia, Down syndrome and many other such ailments, the family has a life-long commitment towards their development, care and treatment.

Even if children with inherited diseases are provided the best of facilities, and treatment, the quality of life invariably gets impacted in a big way and they end up dying prematurely, causing a lot of anguish and pain for their immediate family members.

Is it possible to avoid this pain and tragedy due to genetic or inherited diseases?

“Modern genetic and blood testing technology has now made it possible to forecast many diseases before the baby is born. In the first trimester of pregnancy itself, we prescribe genetic and blood tests. If there are any positive results, then the would-be parents are given-counselling and will be allowed to take an informed decision,” says Head, Paediatrics, Niloufer Hospital, Dr T Usha Rani.

A classic case of genetic disease that runs through families but can be prevented is thalassemia among young children. A ground-breaking study on thalassemia, taken up by Genome Foundation in collaboration with the State government has also identified several high-risk districts and has framed a series of screening programmes for would-be parents so that conducting tests at the right time before delivery will help in preventing children born with the birth defect.

Should all pregnant women undergo a genetic screening?

During routine monthly check-ups of pregnant women, doctors keep a watch for red flags. Telangana and Andhra Pradesh have a high prevalence of consanguineous marriages, which carries a high risk of parents passing genetic defects to their children.

Almost all the blood and genetic tests for pregnant women are quite expensive and not everybody will have the financial wherewithal to afford them. “If a couple has consanguineous marriage, or married from within the same community or already have a child with a genetic disorder, then they must undergo the genetic tests, even if they are costly. The immediate cost of affording the cost of diagnostic tests is far less when compared to the very difficult task of supporting a child with Down syndrome or thalassemia,” Dr Usha Rani points out.

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Author: Howard Caldwell