Neonatal Screening

Already in the first few days of life, a newborn baby is waiting for a mandatory examination - neonatal screening of hereditary diseases, or "heel test." This method of investigation allows us to identify at the earliest stage several serious diseases that for a long time do not manifest any external symptoms. Meanwhile, these pathologies can significantly worsen the quality of life of the child in the future and require immediate action.

How is the "queen test" conducted?

For neonatal screening, the baby takes blood from the heel for 3-4 days of life, in preterm babies the analysis is performed 7-14 days after birth 3 hours after feeding.

Sampling of blood samples is carried out using a special test-paper form. On the form are marked the diseases, which are analyzed, in the form of small circles.

What diseases can detect screening of newborns?

During neonatal screening of newborns, the presence of at least 5 congenital diseases must be checked. In some cases, their number can be much larger. Here are the main diseases that can reveal the "heel test":

1. Adrenogenital syndrome, or congenital dysfunction of the adrenal cortex. This serious illness can for a very long time not manifest itself in any way, however, during puberty, the adolescent's development of the genital organs is disrupted. In the absence of treatment, ACS can also lead to loss of salt by the kidneys, in severe cases this condition leads to death.
2. Galactosemia is the lack or absence in the body of enzymes necessary for the processing of galactose in glucose. The child is shown a lifelong diet that completely excludes milk and all dairy products containing galactose.
3. Congenital hypothyroidism is a serious disease of the thyroid gland. With him, the child does not produce enough thyroid hormones, which, in turn, leads to a delay in the development of most systems and organs. Without treatment, this condition leads to disability and mental retardation.
4. Cystic fibrosis is a condition characterized by an excess of immunoreactive trypsin in the blood. This disease can lead to serious disorders of the digestive and respiratory systems, as well as endocrine glands.
5. In phenylketonuria , the body lacks an enzyme that is responsible for the cleavage of the amino acid phenylalanine. With the excessive accumulation of this substance in the child's blood, all internal organs are affected, mental retardation develops, the brain dies.

Such children are for life forbidden to eat any products containing protein, including meat, fish, milk, etc.; for their nutrition special therapeutic products are manufactured without phenylalanine.

The results of neonatal screening, in the absence of deviations in them, are not reported to the parents of the baby. However, in case of detection of any disease, a repeated test is immediately performed, which makes it possible to exclude the possibility of error. When confirming the diagnosis, measures should be taken immediately, because all these diseases are extremely serious, and their treatment should be started as early as possible.