Neonatal screening and its importance for the early detection of hereditary pathologies

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 until 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, breathing and blood circulation changes radically. In the late neonatal period, adaptive reactions continue.

Given the serious restructuring in the body of a newborn, it is subject to close monitoring in the first month of life. At this time, neonatal screening is carried out - a complex of mandatory examinations that are conducted to identify early congenital and hereditary diseases.

Each newborn is taken a drop of blood from the heel on special forms, which are sent to the medical and genetic centers for free research. If a marker of a certain disease is found in the blood, the child is sent for consultation to a geneticist who prescribes repeated tests and appropriate treatment if the diagnosis is confirmed.

Neonatal screening is extremely important, because it helps to detect serious violations in the body of newborn children in time and to conduct therapeutic measures in a timely manner.

With the help of this survey can detect:

• Congenital hypothyroidism - refers to the most frequent pathologies. There is a disease on 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, abnormalities in the thyroid gland are determined by antithyroid antibodies and certain drugs that could circulate in the mother's blood during pregnancy. If the pathology is not detected in time, the children develop severe brain disorders and mental retardation. Symptoms of congenital hypothyroidism are sufficiently "blurred" - jaundice, hypothermia, poor appetite and sluggish breast sucking, the presence of umbilical hernia and hoarse cries, dry skin, large tongue, wide seams of the skull. This clinical picture is nonspecific, so it is difficult to establish a diagnosis correctly. And it is neonatal screening that allows for timely diagnosis;

• phenylketonuria, which is an inborn violation of the amino acid metabolism, when the formation of tyrosine is disrupted, which leads to a delay in mental development. Timely detection of this pathology allows you to appoint a special diet and prevent serious complications;

• adrenogenital syndrome - manifested by congenital dysfunction of the adrenal cortex;

• galactosemia - a hereditary enzyme pathology, in which the exchange of galactose is disrupted and a severe clinic is already in the second week of the disease - weakness, vomiting, liver damage and bilateral cataract development. Neonatal screening helps to identify this disease and appoint a diet with the replacement of milk with soy products, which helps to normalize the child's condition;

• cystic fibrosis.

Thorough observation of the newborn also helps diagnose neonatal sepsis, which leads to multiple organ failure and death of children in the absence of treatment, as well as hearing pathology.