Recently in our country it became obligatory to conduct a survey for genetic diseases and audiological screening of a newborn. These activities are aimed at the timely detection and treatment of the most serious diseases.
What is neonatal screening for newborns?
Screening of newborns is a mass program to identify hereditary diseases. In other words, this is a test of all babies without exception for the presence of traces of certain genetic diseases in the blood. Many genetic abnormalities of newborns could be detected even during pregnancy screening. However, not all. To identify a wider range of diseases, additional studies are being carried out.
Neonatal screening of newborns is carried out in the first days of the baby's life, when he is still in the hospital. To do this, the child takes blood from the heel and conducts a laboratory study. The results of screening newborns are ready in 10 days. Such early examination is connected with the fact that the earlier the disease is revealed, the more chances there are for the child's recovery. And most of the diseases studied can not have any external manifestations for several months, and even years of life.
Screening of newborns includes examinations for the following hereditary diseases:
Phenylketonuria is a disease consisting in the absence or decrease in the activity of an enzyme that cleaves the amino acid phenylalanine. Danger of this disease is the accumulation of phenylalanine in the blood, which in turn can lead to neurologic disorders, brain damage, mental retardation.
Cystic fibrosis - a disease accompanied by disruption of the digestive and respiratory systems, as well as a violation of the growth of the child.
Congenital hypothyroidism is a disease of the thyroid gland, which manifests itself in the violation of hormone production, which leads to a disruption of physical and mental development. This disease is more likely to affect girls than boys.
Adrenogenital syndrome - a set of various diseases associated with disruption of the adrenal cortex. They affect the metabolism and work of all organs of the human body. These disorders adversely affect the sexual, cardiovascular system, and the kidneys. If you do not start treatment in time, then this disease can lead to death.
Galactosemia is a disease consisting in a lack of enzymes for the processing of galactose. Accumulating in the body, this enzyme affects the liver, nervous system, physical development and hearing.
As we can see, all the investigated diseases are very serious. And if you do not perform a screening test for newborns in time and do not start treatment, the consequences can be more than serious.
Based on the results of screening for a newborn, ultrasound may be prescribed, and other necessary tests to establish an accurate and definitive diagnosis.
What is audiological screening for newborns?
Audiological screening of newborns is the so-called early hearing test. Now more than 90% of children are audiologically tested in the maternity hospital, while the rest are sent to check the hearing in the clinic.
And, if only children from at-risk were exposed to audiological screening, now it is mandatory for all newborns. Such a mass study is associated with high efficiency of hearing restoration if the problem is detected on time. In addition, prosthetics with hearing aids is often used during the first month of life, and timely diagnosis is also needed.