The time from birth to the 28th day of life is the neonatal period. It is divided into early and late. The early period lasts up to 8 days after birth. This time is characterized by the passage of active adaptive reactions to conditions outside the mother's body. So, the type of food, respiration and blood circulation are radically changing. In the late neonatal period, adaptive reactions continue.
Given the serious changes in the body of the newborn, it is subject to careful monitoring in the first month of life. At this time, neonatal screening is carried out - a set of compulsory examinations that are carried out with the aim of early detection of congenital and hereditary diseases.
A drop of blood from the heel is taken from each newborn on special forms, which are sent to medical genetic centers for free research. If a marker of a certain disease is found in the blood, the child is sent for a consultation with a geneticist who prescribes repeated tests and appropriate treatment if the diagnosis is confirmed.
Neonatal screening is extremely important because it helps to detect severe violations in the body of newborns in a timely manner and to conduct therapeutic measures in a timely manner.
Using this examination can detect:
• congenital hypothyroidism - refers to the most common pathologies. There is a disease against the background of insufficient development of the thyroid gland, as well as in the absence or deficiency of the thyroid-stimulating hormone of the pituitary gland. In addition, disorders in the thyroid gland are determined by antithyroid antibodies and some drugs that could circulate in the mother’s blood during pregnancy. If this pathology is not detected in time, children develop severe brain disorders and mental retardation. Symptoms of congenital hypothyroidism are quite “blurred” - jaundice, hypothermia, poor appetite and sluggish sucking, the presence of umbilical hernia and hoarse crying, dry skin, large tongue, wide sutures of the skull. Such a clinical picture is nonspecific; therefore, it is rather difficult to establish a diagnosis correctly. And it is neonatal screening that allows timely diagnosis;
• phenylketonuria, which is a congenital violation of amino acid metabolism, when the formation of tyrosine is disrupted, which leads to a delay in mental development. Timely identification of this pathology allows you to assign a special diet and prevent serious complications;
• adrenogenital syndrome - manifested by congenital dysfunction of the adrenal cortex ;
• galactosemia is a hereditary enzyme pathology in which galactose metabolism is impaired and a severe clinic arises already in the second week of the disease - weakness, vomiting, liver damage and the development of bilateral cataract. Neonatal screening helps to identify this disease and prescribe a diet with the replacement of milk with soy products, which helps to normalize the condition of the child;
• cystic fibrosis.
Careful monitoring of the newborn also helps to diagnose neonatal sepsis, which leads to multiple organ failure and death of children in the absence of treatment, as well as hearing pathology.