Thanks to the application of a new laboratory technology, the heel test that is performed on babies at the time of birth will be able to detect 14 more congenital diseases and pass a total screening of 19. With the technology called mass spectrometry in In tandem, it is possible to diagnose more than thirty inherited diseases from the newborn's blood test.
The heel test involves the removal of a small sample of blood from the baby's heel. We parents know it well because the first is performed on the baby as soon as it is born in the maternity ward and the second after seven or ten days in the health center. The results come home and are very important because the heel test detects the presence of congenital diseases in the baby.
The good news is that the heel test is now more complete. It will follow the same blood extraction procedure, but the laboratory analysis will now allow the detection of 14 more diseases, that is, of the traditional 5 it will go on to detect 19 congenital diseases. Some of these congenital diseases do not present external signs at the time of birth, but if they are not treated early they can cause brain damage and mental handicaps. They can exist from the formation of the embryo and constitute an important group of deficiencies. Its origin is found in genetic errors or in exogenous, toxic factors, medications, radiation ... that act through the mother's body.
The spectrum of diseases that are diagnosed through the heel test or natal screening is constantly expanding and can vary depending on the area or country. The heel test began to be performed more than 30 years ago in New Zealand and over the years, it has been refined and demonstrating the usefulness it has and the advantages of knowing the diagnosis very early, since from this So babies can receive specific treatment as soon as possible. Thus, in 2009 only seven diseases were detected and today, with the application of technology called tandem mass spectrometry, it is possible to diagnose more than thirty hereditary diseases from the newborn's blood test.
Until now, in Spain, the analysis of the blood of the heel test allowed the early diagnosis of five congenital diseases: congenital hypothyroidism, congenital adrenal hyperplasia, phenylketonuria, sickle cell disease and cystic fibrosis. Thanks to the new incorporated technology, and with a single extraction of blood taken from the newborn's heel, diseases related to the metabolism of amino acids, fatty acids and organic acids can be detected. A very important step forward for our children.
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