Early detection of metabolic disorders in newborns

In our country, screening is conducted for two congenital metabolic diseases: hypothyroidism and phenylketonuria. These diseases cannot be detected at birth by the usual examination; hence, all newborn children undergo an early detection program. A specific feature of these diseases is that, if the treatment is not started on time, they lead to the child's permanent and severe mental retardation, as well as slower physical development.

The treatment of both diseases is simple: hypothyroidism is treated with thyroxine tablets and phenylketonuria with a special diet. Children who start treatment in the first month of life have normal growth and development and do not differ from their peers.

In order to detect these diseases early, in all developed countries worldwide, as well as in our country, tests are performed on all newborns' blood samples. These tests are the only sure way of detecting the disease and starting treatment on time!

A blood sample is taken at the maternity hospital, at the earliest in 48th hour of the child's life. The sample is taken from the newborn's heel by applying drops of blood to the filter paper on a special metabolic screening card. The cards are sent to a central laboratory for metabolic testing.

If the test results are normal, you will not be notified. However, if any test result deviates from the norm, you will be asked to come to the hospital in a timely manner. The screening test does not diagnose the disease, but rather identifies suspected cases. Additional testing should be performed as soon as possible, so that treatment can be started in a timely manner, if necessary.   

A repeat test is necessary if the first sample was not valid, if the child was born prematurely, if he/she received a blood transfusion. The test results are stored in the central laboratory.