Od grudnia 2013 r. wszystkie dzieci urodzone w Polsce objęte są badaniem przesiewowym w kierunku rzadkich wad metabolizmu — poinformowała w czwartek rzeczniczka prasowa IMiD Dorota Kleszczewska. Dotychczas z badań tych korzystało 60 proc. polskich noworodków.
As Kleszczewska explained in a press release sent to PAP, the tests are free, financed by the Ministry of Health and coordinated by the Institute of Mother and Child (IMiD).
The recently completed program of implementing newborn screening tests for rare congenital metabolism defects will allow the study to cover all children born in our country – emphasized the spokeswoman.
So far, every newborn baby has been screened for three diseases: phenylketonuria, cystic fibrosis and congenital hypothyroidism.
Kleszczewska informed that currently the study by tandem mass spectrometry (MS / MS) also covers 20 congenital defects of metabolism from the group of aminocidopathies, organic acidosis and disorders of the beta cycle of fatty acid oxidation.
She noted that screening tests are often the only way to detect diseases that do not show overt clinical symptoms in the first weeks or even many months of life. Untreated, they lead to developmental disorders, permanent illness, severe mental retardation and even death.
Badania dokonuje się na podstawie analizy krwi; od każdego noworodka w trzeciej lub czwartej dobie życia pobierana jest krew z pięty na specjalną bibułę.
Kleszczewska recalled that the implementation of the research began in 2009 in accordance with the Newborn Screening Program in Poland for 2009–2014 financed by the Ministry of Health. This year, the study covered the last six voivodeships: Śląskie, Dolnośląskie, Opolskie, Małopolskie, Świętokrzyskie and Podkarpackie.
In a press release, IMiD noted that in 2013, 50 years had passed since the first screening of newborns in the world. They were initiated in the United States by Robert Guthrie (1916-1995), who in 1961 described a microbiological test for the detection of phenylketonuria based on the determination of the level of phenylalanine in blood collected on a tissue paper, and then in 1963 he began the first population screening study. This test is commonly called the Guthri test from his name. A dried blood sample on blotting paper has become the standard screening material. (PAP)