Genetic Disorders In Babies
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In 1960’s newborn babies are tested for disorders and undergo screening tests for phenylketonuria which is metabolic disorder. |
Wide scale screening was made cost effective because they were able to develop a technique of transporting and collecting blood samples on filter papers. It was the start of the formulation of numerous screening blood tests. As a result, infants can now be tested for more than thirty different metabolic and genetic disorders. Tandem mass spectrometry is a new technology that screens many types of disorders with the use of only a few drops of the blood of the baby.
Just a few days after birth specifically between 24 hours to 7 days after birth blood are taken from the heel of the infants because this is the area which that is less painful. These few drops of blood are placed on a special card which is then sent to the laboratory for testing purposes. Result is forwarded back to the pediatrician of the infant. Even if the result is positive, in order to make a diagnosis, further tests should be conducted.
The following are the common disorders that are found on babies: cystic fibrosis, phenylketonuria, congenital, hypothyroidism, sickle cell diseas, congenital adrenal hyperplasia (CAH), galactosemia, ebiotinidase deficiency, congenital toxoplasmosis, homocystinuria, maple syrup urine disease and (MSUD) medium-chain acyl-coA dehydrogenase deficiency (MCAD) .
Having a baby that has a genetic disorder is indeed very difficult for parents emotionally and financially. But because of the superb impressive advancements in technology, parent should worry no more. At an early stage, this genetic disorder could be diagnosed and medicated. Moreover, doctors are still looking for ways on how to treat genetic diseases.
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