The newborn screening: what tests your baby needs and why

What are screening tests for newborns?

Tests that are given to babies after birth to detect the presence of different disorders and diseases. Shortly after birth, the hospital staff will analyze a small sample of blood taken from the heel to detect a number of possible disorders. Most of these disorders have no visible signs or symptoms after birth, but if detected early to tav of a test, physicians have an important advantage of starting to treat them before they can cause serious or permanent damage to the baby. The great Most babies do not suffer from any disease evaluated or disorder: Only one-tenth of one percent of them are diagnosed with some problem. And although the results of initial tests of your baby are not normal, the diagnosis is not definitive. These diagnostic tests provide preliminary information for doctors to decide whether testing is needed most profound and accurate, which will determine whether there is a problem.

How and when will you test my baby?

If you give birth in a hospital, medical staff will draw blood from your baby so that you do the necessary tests before you are discharged. If these results indicate that there may be a problem, they will contact you to explain what the next steps. If you and your baby you are discharged within 24 hours after delivery, you may be asked to return to the hospital one or two weeks later to finish making all the necessary tests. This is because some of the diseases that try to detect only begin to show signs from the second day of baby's life. You may also ask you to return for repeat tests after 2 weeks of baby's life, no matter when you are discharged, to make sure nothing has gone unnoticed. If your baby is born at home, you should take to a hospital, clinic or local health department during the first days of life to have blood drawn for testing. The ideal is to do the second or third day of baby's life, not wait more than seven days.

What tests are considered more important?

The tests are performed most commonly try to detect these diseases. Depending on the community in which they live and the hospital where you meet, some will be routinely and some call then only if your doctor believes there is a reason for that. Metabolism of amino acids . These disorders affect people who have difficulty in metabolizing amino acids, the raw material proteins: Phenylketonuria Homocystinuria Citrullinemia arginosuccínica acidemia Tyrosinemia type I hyperthyroidism and other diseases . These disorders affect a variety of organ systems from hormone function to the hearing: Hypothyroidism congenital biotinidase deficiency congenital adrenal hyperplasia classic galactosemia Hearing Loss Cystic Fibrosis You can read more detailed information on the conditions listed above in the article published by the March of Dimes . Metabolism of organic acids . People with these disorders have difficulties in metabolizing some chemicals such as amino acids, lipids, sugars and steroids, which leads to accumulation of toxic acids in the body, isovaleric acidemia Glutaric acidemia type I aciduria 3-hydroxy-3-metilglutárica, deficiency also known as HMG-CoA lyase, or aciduria of 3-OH 3-CH3 glutaric multiple carboxylase deficiency Methylmalonic acidemia mutase deficiency methylmalonic acidemia, CBLA and CBLB Deficiency of 3-methylcrotonyl-CoA carboxylase propionic acidemia deficiency of beta- ketothiolase disorders of fatty acid metabolism . People with these disorders have some problems in converting fat into energy, an essential process used by our body when it is just normal fuel reserves, or glucose: Deficiency of acyl-CoA dehydrogenase medium chain acyl-CoA deficiency-chain dehydrogenase long deficiency of acyl-CoA dehydrogenase long-chain trifunctional protein deficiency defect Carnitine uptake Hemoglobinopathies . Those who suffer from these disorders have abnormal types or numbers of hemoglobin, a protein in red blood cells responsible for transporting oxygen to body cells. Sickle cell Hb S / Beta-thalassemia disease Hb S / C