Time from birth to 28 days of age - neonatalperiod. 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 maternal organism. So, the type of nutrition, breathing and blood circulation are changing dramatically. In the late neonatal period, adaptive reactions continue.
Every newborn is taken a drop of blood fromheels on special forms that are sent to the medical-genetic centers to conduct free research. If a marker of a particular disease is detected in the blood, the child is sent for a consultation to the genetics, who assigns repeated tests and appropriate treatment if the diagnosis is confirmed.
Neonatal screening is extremely important because it helps to detect severe disorders in the body of newborns in a timely manner and to carry out therapeutic measures in a timely manner.
With this survey can detect:
• congenital hypothyroidism - refers to the mostfrequent pathologies. A disease occurs 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, thyroid abnormalities are determined by antithyroid antibodies and certain drugs that could circulate in the mother’s blood during pregnancy. If this pathology is not identified in time, children develop severe brain damage and mental retardation. 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, large tongue, wide sutures of the skull. Such a clinical picture is non-specific, so it is quite difficult to establish the diagnosis correctly. And it is precisely neonatal screening that allows timely diagnosis;
• phenylketonuria, which is congenitalviolation of amino acid metabolism when the formation of tyrosine is disturbed, which leads to a delay in mental development. Timely detection of this pathology allows you to assign a special diet and prevent severe complications;
• adrenogenital syndrome - manifested congenital dysfunction of the adrenal cortex;
• galactosemia - hereditary enzymea pathology in which the galactose metabolism is disturbed and a severe clinic arises 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 that replaces milk with soy products, which helps normalize the condition of the child;
• cystic fibrosis.
Careful observation of the newborn alsohelps to diagnose neonatal sepsis, which leads to multiorgan failure and death of children without treatment, as well as hearing pathology.
