Badania przesiewowe noworodków w Polsce,
2018 rok

Newborn Screening in Poland – 2018

Mariusz Ołtarzewski

Zakład Badań Przesiewowych i Diagnostyki Metabolicznej Instytutu Matki i Dziecka w Warszawie

Mariusz Ołtarzewski
Zakład Badań Przesiewowych i Diagnostyki Metabolicznej
Instytut Matki i Dziecka
ul. Kasprzaka 17A, 01-211 Warszawa
Tel.: 22 327 71 64,

Wpłynęło: 15.10.2018
Zaakceptowano: 09.11.2018
Opublikowano on-line: 15.11.2018

Cytowanie

Ołtarzewski M. Badania przesiewowe noworodków w Polsce, 2018 rok.
Postępy Neonatologii 2018;24(2):111–122.
doi: 10.31350/postepyneonatologii/2018/2/PN2018025

WERSJA ELEKTRONICZNA

Streszczenie:
Badania przesiewowe noworodków są uznane przez WHO za ważne działania profilaktyczne. W Polsce pilotażowe badania przesiewowe w kierunku fenyloketonurii rozpoczęto w 1965 roku w Instytucie Matki i Dziecka. Obecnie badania przesiewowe obejmują 29 chorób wrodzonych, w tym fenyloketonurię, wrodzoną niedoczynność tarczycy, mukowiscydozę, wrodzony przerost nadnerczy, deficyt biotynidazy oraz 24 inne wrodzone wady metabolizmu. W ciągu roku takie choroby wrodzone są wykrywane u około 400 noworodków. Badania są wykonywane dla całej populacji noworodków w siedmiu laboratoriach koordynowanych przez Instytut Matki i Dziecka. Program Badań Przesiewowych Noworodków jest finansowany przez Ministerstwo Zdrowia.

Słowa kluczowe: przesiew, noworodki, metabolizm, steroidy, fenyloketonuria, PKU, WWM

Abstract:
Newborn Screening is recognized by WHO as an important prophylactic activity. In Poland, newborn pilot screening started in 1965 at the Institute of Mother and Child. Actually 29 diseasesare tested, including phenylketonuria, congenital hypothyroidism, cystic fibrosis, congenital adrenal hyperplasia, biotinidase deficiency and 24 additional inborn errors of metabolism. The whole newborn population is tested in 7 laboratories, coordinated by the Institute of Mother and Child. Newborn Screening Program is financed by the Ministry of Health. Nearly 400 newborns are diagnosed thanks to the screening per year.

Key words: screening, newborn, metabolism, steroids, phenylketonuria,

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