The Guthrie test is the famous test requires a blood sample from the baby heel at birth. It can detect certain rare diseases. How is this essential exam?
Your children born are seems perfectly healthy. To be sure, he will pass the test of Guthrie. On the 4th day of life, a few drops of blood (9 exactly) will be collected by pricking the baby’s heel (or sometimes by venipuncture).
Guthrie test and search of rare diseases
The heel prick blood drops are sent to the laboratory for analysis to detect several diseases:
Phenylketonuria: this is one of the most common metabolic diseases and serious: 1 birth of 15 000. The disease is linked to the absence of an enzyme which does not transform phenylalanine, a compound content in certain foods. If it is not supported, the risk is mental retardation in a few months. Once detected, the treatment consists of a low-phenylalanine diet as soon as possible.
Congenital hypothyroidism: This endocrine disorders concerns a rise of 4 000. There is a lack of thyroid hormone production, which can cause mental retardation. The assumption is based on substitution therapy to compensate for lack of hormones.
Congenital adrenal hyperplasia (in the Guthrie test since 1996): This disease affects a birth of 12 000 and results in a problem of synthesis of the hormone cortisol. Treatment is turning the child corticosteroids.
Sickle cell disease: It is this time of targeted screening because the disease primarily affects people from Africa, the Caribbean, Guyana and Reunion. This problem is bound to hemoglobin which can lead to serious complications. In the population at risk, it concerns a rise of 4 000. The diagnosis enables appropriate care precisely to avoid serious complications.
Cystic fibrosis (in the Guthrie test since 2002): This disease affects one in 4 000. It causes including lung failure. There is no treatment, but its detection allows Early and matched load which improves the quality and life expectancy. Note: in case of positive blood test must be confirmed by genetic testing, which requires parental consent.
The test results Guthrie
The results Guthrie test are pretty fast: less than 15 days. If they are negative, you will not be new. By cons, if a problem is detected, your doctor will tell you, and additional tests will be performed to confirm the diagnosis.