The time from birth to 28 days 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 nutrition, breathing and blood circulation are radically changing. In the late neonatal period, adaptive reactions continue.
Given the serious changes in the body of a newborn, he is subject to careful observation in the first month of life. At this time, neonatal screening is carried out - a set of mandatory examinations that are carried out with the aim of early detection of congenital and hereditary diseases.
A drop of blood is taken from the heel of 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 referred for a consultation with a geneticist, who prescribes repeated tests and appropriate treatment in case ofconfirmation of the diagnosis.
Neonatal screening is extremely important, as it helps to timely detect severe disorders in the body of newborns and promptly carry out therapeutic measures.
This test can detect:
• Congenital hypothyroidism is one of the most common pathologies. The disease occurs against the background of insufficient development of the thyroid gland, as well as in the absence or deficiency of thyroid-stimulating hormone of the pituitary gland. In addition, thyroid disorders 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. The symptoms of congenital hypothyroidism are quite "blurred" - jaundice, hypothermia, poor appetite and sluggish breast sucking, the presence of an umbilical hernia and hoarse crying, dry skin, a large tongue, wide sutures of the skull. Such a clinical picture is non-specific, so it is quite difficult to make a correct diagnosis. And it is neonatal screening that allows timely diagnosis;
• phenylketonuria, which is a congenital disorder of amino acid metabolism, when the formation of tyrosine is disturbed, which leads to mental retardation. Timely detection of this pathology allows you to prescribe a special diet and prevent serious complications;
• adrenogenital syndrome - manifestedcongenital dysfunction of the adrenal cortex;
• galactosemia - a hereditary enzymatic pathology in which galactose metabolism is disturbed and a severe clinic occurs already in the second week of the disease - weakness, vomiting, liver damage and the development of bilateral cataracts. Neonatal screening helps to identify this disease and prescribe a diet with milk replacement for soy products, which helps to normalize the baby's condition;
• cystic fibrosis.
Careful observation of the newborn also helps to diagnose neonatal sepsis, which leads to multiple organ failure and death of children if left untreated, as well as hearing pathology.
