Laboratory newborn screening
نویسندگان
چکیده
Ăvod: laboratornĂ novorozeneckĂ˝ screening (LNS) je preventivnĂ celopopulaÄnĂ program, kterĂ˝ umoĹžĹuje vÄasnou diagnostiku a ĂşÄinnou lĂŠÄbu pacientĹŻm s vybranĂ˝mi vrozenĂ˝mi dÄdiÄnĂ˝mi nemocemi podstatnÄ zlepĹĄuje kvalitu jejich Ĺživota. Metodika: vyĹĄetĹenĂ kapilĂĄrnĂ krve odebranĂŠ mezi 48. aĹž 72. hodinou Ĺživota ve formÄ suchĂŠ krevnĂ kapky metodami tandemovĂŠ hmotnostnĂ spektrometrie, fluorimetrie, imunoeseje Äi molekulĂĄrnÄ genetickĂ˝mi. VĂ˝sledky: v ÄeskĂŠ republice byl LNS zahĂĄjen roce 1975 vyhledĂĄvĂĄnĂm fenylketonurie (PKU), dĂĄle se rozĹĄĂĹil 1985 o kongenitĂĄlnĂ hypotyreĂłzu (CH), 2006 adrenĂĄlnĂ hyperplazii (CAH), 2009 cystickou fibrĂłzu (CF) dalĹĄĂch 9 dÄdiÄnĂ˝ch poruch metabolismu. K dalĹĄĂmu rozĹĄĂĹenĂ poÄtu onemocnÄnĂ doĹĄlo 2016. V letech 2010-2020 bylo vyĹĄetĹenĂm vĂce neĹž 1,2 milionu novorozencĹŻ zachyceno pomocĂ celkem 1100 pacientĹŻ nÄkterou z cĂlovĂ˝ch nemocĂ. KumulativnĂ novorozeneckĂĄ prevalence vĹĄech 18 nemocĂ ÄinĂ 1 : 1100. Mezi nejÄastÄjĹĄĂ patĹĂ CH, PKU, CF parciĂĄlnĂ deficit biotinidĂĄzy. Od roku 2022 plĂĄnovĂĄn start pilotnĂho programu dalĹĄĂho spinĂĄlnĂ svalovou atrofii tÄĹžkĂŠ kombinovanĂŠ imunodeficity. ZĂĄvÄr: programy dĂky pokrokĹŻm technologiĂch lĂŠÄbÄ celosvÄtovÄ rozĹĄiĹujĂ za dodrĹženĂ stĂĄle platnĂ˝ch kritĂŠriĂ WHO dle Wilsona Jungnera.
منابع مشابه
A Universal Newborn Hearing Screening in Iran
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متن کاملNewborn Screening Fact Sheets
These newborn screening fact sheets were developed by the Committee on Genetics of the American Academy of Pediatrics (AAP) with considerable assistance and consultation from many individuals. It is hoped that the information contained in these fact sheets will assist the pediatrician in understanding the individual tests, their characteristics, and their strengths and weaknesses. Newborn scree...
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ژورنال
عنوان ژورنال: Ceskoslovenska? pediatrie
سال: 2022
ISSN: ['0069-2328']
DOI: https://doi.org/10.55095/cspediatrie2022/002