Neonatal screening and its significance for the early detection of hereditary pathologies
Time from birth to 28 days of life - neonatalperiod. 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 maternal organism. So, radically changing type of nutrition, breathing and blood circulation. In the late neonatal period, adaptive reactions continue.
Each newborn is taken a drop of blood withheels on special forms, which are sent to the medical genetic centers for a free trial. 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 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 mostfrequent 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 timely diagnosis;
• phenylketonuria, which is congenitala 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 - hereditary enzymepathology, in which the exchange of galactose is disrupted and a serious clinic is already in the second week of the disease - weakness, vomiting, liver damage and development of bilateral cataracts. Neonatal screening helps to identify this disease and prescribe a diet with the replacement of milk with soy products, which helps to normalize the child's condition;
• cystic fibrosis.
Careful monitoring of the newborn alsohelps diagnose neonatal sepsis, which leads to multi-organ failure and death of children in the absence of treatment, as well as hearing pathology.
