As soon as the baby is born, a simple blood test can make all the difference in your health. The famous heel test that detects so many genetic and congenital diseases has gained a new version, the expanded heel test. The heel prick test is very simple, it involves collecting drops of blood with a minimal hole in the baby’s heel, it doesn’t hurt and it doesn’t hurt the baby , it does help and is very efficient in diagnosing diseases. In addition to being mandatory in the national territory, it is very efficient and accurate in diagnosing, it must be done within 48 hours to 7 days of the baby’s birth. In some laboratories, the heel test may be even more extensive, but it is necessary to consult a place close to the place of residence.
The enlarged heel test detects 7 more possible congenital diseases. In addition to basic screening for diseases such as phenylketonuria and congenital hypothyroidism, the enlarged heel test can detect even in the newborn:
- Sickle cell anemia
- Cystic fibrosis
- Congenital adrenal hyperplasia
- Glucose-6-phosphate dehydrogenase deficiency (G6PD
- Congenital toxoplasmosis
- Biotinidase deficiency
Most of these diseases are treatable and can reach a complete cure, with the exception of sickle cell anemia, which if the disease is detected, the child will have to take some care with food. Find out what are the diseases that the enlarged heel test can detect.
Sickle cell anemia and a type of change in red blood cells, instead of round they can be sickle-shaped. This shape makes blood circulation in the veins difficult and can cause pain. Usually sickle cell anemia is transmitted by one of the parents who has the trait of the disease or even both. There is no cure, only treatment with food and in crises, pain medication. However, the child may have only the features and not always present the disease itself.
Cystic fibrosis is a deficiency in the amount of sodium in cell membranes. This deficiency can cause the presence of a mucus and that mucus ends up clogging the airways and can also cause lung infection. This disease can also affect the pancreas due to the excessive load of potassium in the bloodstream. The earlier the diagnosis, the faster the treatment, the better the recovery.
Congenital adrenal hyperplasia is an alteration of the adrenal glands and the production of natural hormones such as corticosteroids and cortisone are impaired. Deficiency of hormones like cortisone, for example, can lead to increased levels of potassium in the body and have serious consequences. The importance of having the diagnosis as quickly as possible is the benefit of early treatment of hormonal deficiency.
Galactosemia is a deficiency in the enzyme that metabolizes milk and food in the baby. Galactose can cause vomiting, diarrhea, jaundice , problems with the liver and other organs. Galactosemia should be diagnosed in the first month to avoid any major problems, so it is part of the expanded heel test.
Glucose-6-phosphate dehydrogenase deficiency is an instability of red blood cells in the blood, with this instability the appearance of anemias is greater with less use of simple medications.
Congenital toxoplasmosis is nothing more than toxoplasmosis (a disease transmitted by the feces of cats) transmitted by the mother during pregnancy. If acquired early in pregnancy, toxoplasmosis can bring malformation to the fetus. Congenital toxoplasmosis was included in the enlarged heel test as early treatment can prevent neurological problems in the baby.
If the mother has a history of illnesses such as HIV, syphilis, chagas disease or even cytomegalovirus, these tests can be included in the expanded heel test.
But what if a disease is detected in the enlarged heel test?
Usually when a disease is found in the first examination of the heel prick test, the pediatrician will certainly request a new test and in order to confirm the presence of any disease. Usually the test takes 15 to 30 days to be ready and most of the time it is collected at the maternity hospital with a period of 48 hours from the baby’s birth. Some maternity hospitals refer the baby to do the
foot testing in places like APAE for example, or even in specialized laboratories. Not all places do the extended foot test, in some cases only the simplest one is done.
The possibility of having an enlarged foot test should be discussed with the obstetrician before delivery and also with the maternity pediatrician. If necessary, he will do it, or if it is the will of the parents, they can do it privately, just ask for guidance on where to do it in your city. The cost of the extended heel test costs around 250.00 , the simplest public network has no cost for parents. This is the simplest way to find out if the baby needs any special treatment for any of these diseases, if necessary, talk to the pediatrician and he will guide you through treatment very effectively.
My name is Dr. Alexis Hart I am 38 years old, I am the mother of 3 beautiful children! Different ages, different phases 16 years, 12 years and 7 years. In love with motherhood since always, I found it difficult to make my dreams come true, and also some more after I was already a mother.
Since I imagined myself as a mother, in my thoughts everything seemed to be much easier and simpler than it really was, I expected to get pregnant as soon as I wished, but it wasn’t that simple. The first pregnancy was smooth, but my daughter’s birth was very troubled. Joana was born in 2002 with a weight of 2930kg and 45cm, from a very peaceful cesarean delivery but she had already been born with congenital pneumonia due to a broken bag not treated with antibiotics even before delivery.