Ukuhlolwa okusha okuzalwa okusha kwezinkinga ze-Genetic and Metabolic Disorders

Ukutholwa Kokuqala Nokunakekelwa Kwempilo Engcono

Ezingxenyeni eziningi zezakhi zofuzo nemithi, izimpawu aziqali kuze kube sekupheleni kwezinsuku noma amasonto. Ngesikhathi izimpawu zivela, umonakalo kungenzeka usuvele usuwenziwe ohlelweni lwezinzwa, izinso, umbono, ukuzwa nezinye izinhlelo zomzimba. Yingakho ukutholwa kokuqala kwezimpikiswano ezinkulu kuzo zonke izinsana kubaluleke kakhulu. Ukuxilongwa nokwelashwa kwalezi zinkinga kunganciphisa ingozi yezifo, ukukhubazeka, ngisho nokufa.

Ukuqala kokuhlolwa kweNTSHA

Umqondo wokuhlola zonke izingane ezisanda kuzalwa ngenxa yokukhathazeka kwaqala ngawo-1960 ngokuthuthukiswa kokuhlolwa kokuhlolwa kwe- phenylketonuria , isifo somzimba. Indlela yokuqoqa nokuthutha ama-sampuli egazi kumaphepha okuhlunga yasungulwa okwenza imali yokuhlola ngokubanzi iphumelele. Kusukela ngaleso sikhathi ukuhlolwa kwegazi okuningi kuye kwasungulwa, futhi manje usana luyakwazi ukuhlolwa ngezidakamizwa ezingaphezu kwezingu-30 ezihlukahlukene zofuzo. Ubuchwepheshe obusha besebenzisa i-tandem mass spectrometry kungabonisa izifo eziningi usebenzisa amaconsi ambalwa egazi lomntwana.

Ukuhlolwa okusha okusha ku-United States

Wonke ama-50 athi e-United States anikeza ukuhlolwa kokuzalwa kokuzalwa, kodwa akuwona wonke amazwe adinga ukubukwa okusha ngokushaywa ngumthetho. Futhi, nakuba izinsana zingabonwa izifo eziningi ezingu-29, izifunda ezingu-13 kuphela kanye neSifunda saseColombia zidinga zonke izilinganiso ezingu-29. Izifunda ezingu-27 ezengeziwe zidinga okungaphezu kuka-20 ukuhlolwa.

Ezinhlanu zibonisa isikrini ngezinkinga ezingu-10 kuya kwezingu-20, kanti amahlanu athi isikrini sezinkinga ezingaphansi kuka-10. Uhla lokuhlolwa kokuhlolwa oluhlinzekwe yizwe ngalinye liyatholakala.

Unyaka ngamunye i-March of Dimes iphakamisa iKhadi Lokubika Lokuhlola Ukuzalwa LwaseNtsha elihlaziya izidingo zokuhlola ukuzalwa okusha e-United States. Ngo-2007, amaphesenti angama-90 azo zonke izingane ezelwe e-United States ahlala emazweni afuna ukuhlolwa okungenani izimpikiswano ezingu-21.

UMashi weDeses ulinganisela ukuthi amaphesenti angu-6.2 wezingane ezisanda kuzalwa e-United States azothola ukuhlolwa kwezifo ezingaphansi kuka-10. UMashi weDeses usebenza ukunciphisa lokhu ukungalingani ekuhlolweni okuzalwa okusha ezweni, ngenhloso yokuba zonke izingane zihlolwe izifo ezingu-20 noma ngaphezulu ngo-2008.

Ukuhlolwa okusha okusha emhlabeni jikelele

Ukuhlolwa kwezingcindezi kuyingxenye yokunakekelwa kwempilo esanda kuzalwa kuwo wonke amazwe athuthukile. Amazwe amaningi ahlolisisa i-phenylketonuria, i-hypothyroidism yokuzalwa, ne-cystic fibrosis. Abaningi futhi bahlolisisa i-adrenal hyperplasia, i-galactosemia nesifo se-sickle cell kanye nezinye izifo. I-US National Newborn Screening & Genetics Resource Center inezixhumanisi ezinhlelweni zamazwe omhlaba ukuze uthole olunye ulwazi.

Indlela Izivivinyo Ezenziwa Ngayo

Ezinsukwini ezimbalwa zokuqala zokuphila (phakathi kwamahora angu-24 kuya kwezinsuku ezingu-7 emva kokuzalwa), amaconsi ambalwa egazi athathwa esithende sesana (bona isithombe) futhi abekwe ekhadini elikhethekile. Leli phepha lithunyelwa ebhokisithri ukuze lihlolwe. Imiphumela yokuhlolwa kwegazi ithunyelwa kubantwana besana. Uma ngabe yikuphi ukuhlolwa okubuya emuva okuhle, ukuhlolwa okuqhubekayo kwenziwa ukuze uhlolwe.

Ukuphazamiseka Kubukelwe

Izinkinga ezivame kakhulu izingane ezisanda kuhlolwa zihlanganisa:

Uhlu olugcwele lwezinkinga ezingahlolwa, kufaka phakathi ulwazi mayelana nesifo ngasinye, lutholakala.

> Imithombo:

> "Ukuhlolwa okusha okusha." Izinsiza zokuhlola ezintsha. Isikhungo seNational Screening & Genetics Centre.

> "Abazali - Imininingwane Ejwayelekile." Izinkinga zezezimali, ezokuziphatha, ezomthetho nezenhlalakahle (FELSI). 28 Julayi 2005. Ukuhlola, Ubuchwepheshe Nezokucwaninga Kwezakhi Zamafuzo (STAR-G).

> "Amaphesenti angaba ngu-90% wabantwana abathole izivivinyo ezihlotshaniswayo zokuhlola i-Newborn." I-PeriStats. 11 Julayi 2007. Mashi ka-Dimes.