I-Trisomy 21, ebizwa nangokuthi i-Down Syndrome, isifo esibangelwa ukungavamile kuma-chromosome (izakhiwo zamaseli eziqukethe izakhi zofuzo zomzimba). Abantu abane-Down's syndrome banama-chromosome amathathu 21 esikhundleni sepheya eyodwa nje. Lokhu kungalingani ekusebenzeni kwe-genome (lonke ulwazi lwefa olukhona kumangqamuzana omuntu) kanye nomzimba kubangela ukukhubazeka kwengqondo okungapheli kanye nokulibaziseka kokukhula.

I-Down's syndrome ingahluka ngobukhulu. I-syndrome iya ngokuya yaziwa kakhulu futhi ukungenelela kusenesikhathi kungenza umehluko omkhulu kukhwalithi yempilo yezingane kanye nabantu abadala abanalesi sifo. Ezimweni eziningi, lesi sifo akusona ifa, okusho ukuthi asisuleli kubazali kuya ezinganeni zabo.

Izimbangela

Ingqamuzana ngalinye lomuntu linama-chromosome angu-46 ahlelwe ngamapheya angu-23 okutholakala kuwo izakhi zofuzo. Lapho iqanda nesidoda kuhlanganiswa nesidoda, umzali ngamunye udlulisela ama-chromosome angu-23 enganeni yakhe, ngamanye amazwi, ingxenye yezakhi zayo zofuzo. I-Down's syndrome ibangelwa ukuba khona kwe-chromosome 21 yesithathu, okubangelwa ukungavamile phakathi nokuhlukana kwamaseli.

I-Chromosome 21 incane kakhulu kuma-chromosome: inezakhi zofuzo ezingaba ngu-300. Ezimweni ezingu-95% ze-Down's syndrome, le chromosome eyeqile itholakala kuwo wonke amaseli omzimba walabo abathintekile.

Izinhlobo ezingavamile ze-Down syndrome zibangelwa okunye okungavamile ekuhlukaneni kwamaseli. Cishe ku-2% wabantu abane-Down's syndrome, ama-chromosome amaningi atholakala kuphela kwamanye amangqamuzana omzimba. Lokhu kubizwa nge-mosaic trisomy 21. Cishe ku-3% wabantu abane-Down's syndrome, ingxenye kuphela ye-chromosome 21 eyeqile. Lena trisomy 21 by translocation.

Ukuvama

E-France, i-trisomy 21 iyimbangela ehamba phambili yokukhubazeka kwengqondo kwemvelaphi yofuzo. Kukhona cishe abantu abangama-50 abane-Down's syndrome. Le pathology ithinta i-000 ku-21 kuya ku-1 yokuzalwa.

Ngokusho koMnyango Wezempilo waseQuebec, i-Down's syndrome ithinta cishe izingane ezingama-21 koyedwa ozelwe. Noma yimuphi owesifazane angaba nomntwana one-Down's syndrome, kodwa amathuba ayanda ngokuya ngeminyaka. Lapho eneminyaka engu-1, owesifazane angaba nengozi engama-770 kwangu-21 yokuba nengane ene-Down's syndrome. Eminyakeni engu-20, ingozi ingu-1 kwabangu-1500. Le ngozi izokwehla isuka kowoku-30 ku-1 iye onyakeni ongu-1000 futhi isuke ku-1 eminyakeni engu-100 iye ko-40.

kwesifo

Ukuxilongwa kwe-Down syndrome kuvame ukwenziwa ngemva kokuzalwa, lapho ubona izici zengane. Kodwa-ke, ukuze uqinisekise ukuxilongwa, kuyadingeka ukwenza i-karyotype (= ukuhlolwa okuvumela ukutadisha ama-chromosomes). Isampula legazi lomntwana lithathwa ukuze kuhlaziywe ama-chromosome kumaseli.

Ukuhlolwa kwangaphambi kokubeletha

Kunezinhlobo ezimbili zokuhlola ngaphambi kokubeletha ezingaxilonga i-trisomy 21 ngaphambi kokuzalwa.

The ukuhlolwa kokuhlolwa ezihloselwe bonke abesifazane abakhulelwe, hlola ukuthi amathuba noma ingozi yokuthi ingane izoba ne-trisomy 21 iphansi noma iphezulu. Lokhu kuhlola kuqukethe isampula yegazi bese kuba nokuhlaziywa kwe-nuchal translucency, okusho ukuthi isikhala phakathi kwesikhumba sentamo kanye nomgogodla we-fetus. Lokhu kuhlolwa kwenzeka ngesikhathi se-ultrasound phakathi kwamaviki ayi-11 nayi-13 okukhulelwa. Iphephile ku-fetus.

The izivivinyo zokuxilonga okuhloselwe abesifazane abasengozini enkulu, kubonisa ukuthi umbungu unaso yini lesi sifo. Lezi zivivinyo zivame ukwenziwa phakathi kwe-15^st futhi 20^st isonto lokukhulelwa. Ukunemba kwalezi zindlela zokuhlola i-Down syndrome cishe ku-98% kuya ku-99%. Imiphumela yokuhlolwa itholakala emavikini angu-2-3. Ngaphambi kokwenza noma yikuphi kwalokhu kuhlolwa, owesifazane okhulelwe kanye nowakwakhe bayelulekwa ukuthi bahlangane nochwepheshe bezofuzo ukuze baxoxe ngobungozi nezinzuzo ezihambisana nalokhu kungenelela.

I-Amniocentesis

THEi-amniocentesis inganquma ngokuqiniseka ukuthi umbungu une-Down's syndrome. Lokhu kuhlola kuvamise ukwenziwa phakathi kwama-21^st futhi 22^st isonto lokukhulelwa. Isampula ye-amniotic fluid evela esibelethweni sowesifazane okhulelwe ithathwa kusetshenziswa inaliti encane efakwe esiswini. I-Amniocentesis ithwala izingozi ezithile zezinkinga, ezingafinyelela ekulahlekelweni kombungu (owesifazane oyedwa kwabangama-1 uyathinteka). Ukuhlolwa kunikezwa ikakhulukazi kwabesifazane abasengozini enkulu ngokusekelwe ekuhlolweni kokuhlolwa.

Isampula ye-chorionic villus.

Isampula (noma i-biopsy) ye-chorionic villi (PVC) yenza kube nokwenzeka ukunquma ukuthi ingabe ingane inokungajwayelekile kwe-chromosomal njenge-trisomy 21. Le nqubo ihlanganisa ukukhipha izingcezu ze-placenta ezibizwa ngokuthi i-chorionic villi. Isampula ithathwa ngodonga lwesisu noma ngesitho sangasese sowesifazane phakathi kwe-11^st futhi 13^st isonto lokukhulelwa. Le ndlela inengozi yokuphuphuma kwesisu ka-0,5 kuya ku-1%.

Imiphumela emndenini

Ukufika emndenini wengane ene-Down's syndrome kungase kudinge isikhathi sokulungisa. Lezi zingane zidinga ukunakekelwa okukhethekile nokunakwa okwengeziwe. Zinike isikhathi sokujwayelana nengane yakho futhi umenzele indawo emndenini. Ingane ngayinye ene-Down's syndrome inobuntu bayo obuhlukile futhi idinga uthando nokusekelwa njengabanye.