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Newborn screening tests are free and obligatory tests of newborn children, carried out in Poland since 1994. Thanks to these tests, as many as 23 congenital diseases can be diagnosed early and treated.
What is newborn screening?
Newborn screening is one of the most important population studies (i.e. all newborn babies) recommended by the World Health Organization. These tests make it possible to detect diseases and congenital malformations, which often threaten not only the health, but also the life of the child, early (in order to undertake proper treatment). In the case of some diseases, only early treatment allows to avoid serious complications, including disability (including intellectual disability).
Newborn screening consist in taking samples from the child for analysis, which are then sent to one of the eight regional centers in Poland dealing with screening tests. The centers that carry out such research are Warsaw, Gdańsk, Katowice, Kraków, Łódź, Poznań, Szczecin and Wrocław. After samples are sent to them, they are carefully analyzed to identify one of the 23 congenital diseases. Newborn screening are carried out according to a procedure developed by IMID.
What medical conditions and abnormalities can be diagnosed by neonatal screening?
Newborn screening allow to detect the following diseases and birth defects:
- phenylketonuria,
- hypothyroidism, i.e. congenital hypothyroidism,
- cystic fibrosis
- 20 other congenital and rare metabolic defects.
Screening tests towards cystic fibrosis have been carried out in Poland since 2009 (since then all newborn children have been covered – earlier, that is from 1999, only a pilot program of cystic fibrosis detection was carried out). RESEARCH towards rare detection metabolic defects have been carried out in Poland since 2000.
Newborn screening they are non-invasive, safe, relatively cheap and highly precise.
What dictates the choice of defects and diseases diagnosed by neonatal screening tests?
Newborn screening are aimed at early detection of diseases that, if left untreated, may lead to severe disability or even death of a child. These types of diseases, if not diagnosed and treated before the onset of clinical symptoms, usually result in a permanent and severe loss in the child’s health, and their subsequent treatment is costly, time-consuming and involves strenuous hospital stays for the child and parents. Some of those detected in newborn screening diseases do not give symptoms during infancy and early childhood, but the body slowly declines and when symptoms appear clearly, the losses caused by the ongoing disease process are irreversible.
Can I refuse newborn screening tests?
In Poland newborn screening they are free – they are fully financed by the Ministry of Health. They are also compulsory for all born babies.
In other European Union countries newborn screening they are also compulsory and usually financed by the state. The number of tests performed depends on the regulations in force in a given country.
It is estimated that 99,9 percent of children are subjected to Poland screening for newborns – usually the samples are collected in the first days after the baby is born, when the baby and mother are still in the hospital. If the baby is born at home, the parents or the nurse can take the samples. However, a small percentage of parents refuse to surrender their child screening testsexplaining this decision with ideological considerations. Refusal of enforcement newborn screening is not punishable. Most parents, however, understand that screening tests allow you to save the health and life of a child and protect them from long-term hospitalization and painful complications of diseases with which they may have come into the world. Refusal to take a blood sample from the child for performance screening tests it happens very rarely.
In Poland, there is a diagnostic system based on the routine collection of blood samples for screening tests from newborn children, there is also supervision over the implementation of treatment in children with screening tests detected any of the diagnosed on the basis of screening tests abnormalities. All of the diseases are detected on the basis of newborn screening tests can be properly treated in our country. Their early detection reduces the costs and inconvenience of therapy, while increasing its effectiveness.
98% of the time screening tests newborn babies do not confirm the presence of any of the diseases that are included in the tests. If the result is incorrect or uncertain, blotting paper is sent to the parents a second time to collect material from the child for analysis.