Development

Newborn screening

Screening babies after birth to detect serious illnesses is called screening.

Why is it needed?

Parents should not refuse such a study, because it is able to identify diseases that are important to start treating as early as possible. Thanks to screening, pathologies are revealed that cannot be detected in a baby during intrauterine development. Moreover, such diseases can lead to disability or even death if time is lost and treatment is not started before the first manifestations.

Just a few tests - and the mother may not worry that the baby will develop a serious pathology a little later, threatening the health and life of the baby. If the disease is diagnosed, early therapy helps to stop the development of the disease and prevent complications.

Kinds

In the first year of life, the baby is waiting for several screenings, and the baby will face the first of them while still in the hospital.

Neonatal (genetic) for hereditary diseases

The research is aimed at early detection of hereditary genetic diseases. It is carried out on the fourth day of life in full-term babies and on the seventh day in babies born prematurely. Blood is taken from the heel of the toddler, since his toes are so small that it does not allow getting enough blood for research. The heel is pierced and applied to a special form with circles so that the blood soaks through them.

Research can determine:

  • Congenital hypothyroidism. Pathology is detected in one out of 4-5 thousand newborns. The disease affects the thyroid gland, disrupting its function to produce hormones. This threatens to delay the development and growth of the baby. A timely diagnosed disease is treated with hormones, due to which its development completely stops.
  • Adrenogenital syndrome. The disease is diagnosed in one baby per 5-20 thousand newborns. With such a disease, the work of the adrenal cortex is disrupted, so the baby does not have enough cortisol and aldosterone. With late detection, the pathology leads to problems with the functioning of the kidneys, the function of the cardiovascular system and the formation of the genitals. If this hereditary disease is detected after birth, the baby can be prescribed hormonal treatment in time, preventing complications.
  • Galactosemia. Pathology is observed in one in 15-20 thousand children. The disease is caused by a lack of an enzyme that converts galactose into glucose, which leads to damage to the liver, nervous system and other organs of the baby. The main treatment is a diet in which dairy products are excluded from the diet of the baby.
  • Cystic fibrosis. Pathology is detected in one child per 2-2.5 thousand newborns. With such a hereditary disease, the respiratory system and the digestive tract are affected. Having identified the disease during screening, they begin to treat it in a timely manner.
  • Phenylketonuria. The incidence of the disease is 1 in 7000 children. With this genetic pathology, the baby's body lacks an enzyme responsible for the breakdown of phenylalanine. The result will be the accumulation of this amino acid and its toxic effects on the brain. Treatment of pathology involves a special diet, which is prescribed for a long time. If the disease is identified immediately after birth, mental retardation can be prevented.

This is a very important analysis, read more about it in the article on neonatal screening of newborns.

Audiological

This examination is aimed at detecting deafness and hearing loss. Modern equipment is used for it.

Previously, such screening was prescribed only for children at risk, but now it is recommended for all infants, since early detection of hearing problems in many cases allows hearing regeneration. In addition, you can put a prosthesis in the first months of life, which will allow babies with hearing loss to develop at the same level as children with normal hearing.

Ultrasound - ultrasound

This type of screening is prescribed during the first three months of a baby's life. During the examination, the following can be identified:

  1. Brain pathologies - both congenital and acquired in utero or during childbirth. If such problems are discovered out of time, the baby will develop neurological disorders and brain function may be impaired.
  2. Pathology of internal organs. Such screening is indicated if the child has problems during intrauterine development, as well as with growth retardation, indigestion, urination and other adverse symptoms.
  3. Pathology of the hip joints. If problems are found in the first weeks of life, treatment is shorter and surgery can be avoided.

How many days to wait for results?

The result of neonatal screening 10 days after blood sampling is sent to the clinic where the newborn is observed. If no violations are found, the test results are simply pasted into the card, parents are usually not informed about this.

If you received a call or sent a notification by mail, this means that the indicators were increased and the child should be tested again. When the disease is confirmed, the baby is immediately prescribed treatment.

During ultrasound screening, a report is issued immediately after the examination.

The results of the audiological examination are also available immediately.

If the baby has hearing problems, he is re-examined after 4-6 weeks at the audiological center.

Watch the video: Normal Newborn Screening Physical Examination (July 2024).