-Down syndrome: kungakhathaliseki indlela yokwelashwa kutholakala?

Zherom Lezhen - waseFrance ngubani kwamashumi amahlanu edlule ithole iphutha kuma-chromosome obhekene okuvela-Down syndrome. Lejeune, owashona ngo-1994, wayengumKatolika oshisekayo, futhi washaqeka lapho eqaphela ukuthi lokhu ayekutholile kuzoholela ukuhlolwa ngaphambi kokuba umuntu azalwe futhi izisu okwalandela. Ngokubona kwakhe, kwaba ukuqedwa iziguli, kunokuba ukwelashwa. Wayeqiniseka ukuthi ngelinye ilanga ikhambi lizotholakala. Wabhala: "Sizokwenza uwine lesi sifo. Akwamukelekile ukuthi asinawo. Lokhu kuzodinga ingasaphathwa umzamo bokusungula kuka ngokuthumela abantu enyangeni. "

ukuhlolwa ngaphambi kokuba umuntu azalwe

Diana Bianchi, omunye edume kakhulu Melika zofuzo ezisanda kubelethwa, liye lagcina incwadi evela Lejeune, okuyinto manje kuthé luhlaka ehhovisi lakhe. Yena waziwa futhi ahlonishwe ngoba eye iqhaza esethulweni non-koda ukuhlolwa ngaphambi kokuba umuntu azalwe, kanye ukuthi ibhalwe ngokuningiliziwe ngokucophelela ngobuhle nangobubi bawo zokuhlola. Ukuhlolwa kwegazi, okuyinto siphenywa, ayathuthuka indlela ukuthola amaphutha kuma-chromosome, ezifana-Down syndrome - ezivamile azalwa naso isici zofuzo kuholela akahlakaniphile. Njengoba lolu vivinyo kwakuyizinto ezazisetshenziswa kwa-2011, bavalelwa for abayizithulu abangaphezu kwezigidi ezimbili.

isinqumo esinzima

Lolu vivinyo kuqondile kakhulu futhi kungathola-Down syndrome e fetus in senyanga yokuqala. Nokho, amathuba yezokwelapha ekutholeni umphumela omuhle enqubeni ongahlola ngazo namanje okulinganiselwe kakhulu, njengoba kwakunjalo ezinsukwini zika Lejeune. Kuphakathi unina evala ukukhulelwa noma ebeletha umntwana oyoba ntshashintshe yokukhubazeka. Ayisithupha ukuba amaphesenti angamashumi ayisikhombisa sabesifazane abangakaze ekuhlonzweni ibonisa ukuthi ingane yabo ngeke babe Down syndrome bekhetha ukusikhipha isisu.

ukugxekwa okungasekelwe

Yingakho ingxenye enkulu Bianchi e ekusakazekeni ngokushesha ukuhlolwa non-koda nokuba ilitshe elibanjwa esuka kubantu abaningi, ikakhulukazi labo abagulayo abane-Down syndrome nabazali bazo, abathi bayajabula ngakho iziphi. Kulabo ugxeke Bianchi kuwebhu futhi ubeka usongo ekhasini wakhe esibhedlela e-Facebook, ngenhloso eyodwa kubonakala sengathi ucwaningo ehle abantu abane-Down syndrome. Nokho, kulabo Uyalalelisisa, cabanga ngemininingwane linikeza umbono ohlukile. Ngemva Bianchi uthi ukusheshe kuhlolelwe kuzovumela umzamo wokuqala ukuba aphathe Down Syndrome. Uma kungenzeka, thola Down Syndrome ku-fetus kungakapheli isonto lweshumi ukuhlolwa ukunikeza ithuba lokuthuthukisa izidakamizwa ezingathinta izinyathelo engqondweni yethu kakade ngaphakathi esibelethweni. "Abantu abaningi abanezingane ezine-Down syndrome, bakholelwa ukuthi enhle njengoba benjalo, - uthi Bianchi. - Nokho, zikhona eziningi abantu, uma ethola ithuba, angakhetha ekwelapheni izingane zabo ". Wabuye wathi abagxeki abamelene isivivinyo, musa ukubona isithombe esigcwele cha, abaqondi ukuthi kwesibalo kukhona enye ingxenye.

ukutholakala kwezidakamizwa

Ngo-laboratory, lapho ayesebenza Bianchi, baqhuba izifundo in amagundane, lapho kukhona izimpawu yalesi sifo, efana Down syndrome kubantu. Umama amagundane ziphathwa izidakamizwa ezaziwayo - kubikwa ukuthi esikhathini esizayo esiseduze kungenziwa inhlanganisela ihlolwe, kodwa okwamanje bazama into eyodwa ngezindawo. Lokhu experiment - ngomzamo ukwandisa izinga lokukhula neuronal nawamagundane abasha lapho idlule i yisigaba esibaluleke kobuchopho. Thola imithi efanele kodwa ahlale amancane kakhulu umzamo, njengoba Bianchi sigxila ekuboniseni indlela ukuthola imithi ephephile futhi kungase kutholakale engasetshenziswa esibelethweni. Kodwa kuyiqiniso futhi ukuthi uzinake ukuthi lokhu Bianchi hhayi kuphela - abanye baye baqala sinake kungenzeka kokuphatha-Down syndrome. Ngokwesibonelo, esibhedlela e-Texas ilungiselela ukuhlola Prozac ukwelashwa komama, imibungu Down syndrome.. Usosayensi eCornell iphenya ithonya choline izakhamzimba, izakhi ezibalulekile. Lokhu ehlobo Bianchi umhlangano e-Paris unentshisekelo yokuthola ikhambi-Down syndrome, yavuma ukuthi ngisho ezama ugovuze isithakazelo zokwelapha bheka, lokhu kuyimpumelelo enkulu endleleni kube nemiphumela emibi kakhulu.