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Trisomy 21 (Ciwon Down syndrome)
Trisomy 21, wanda kuma ake kira Down Syndrome, cuta ce da ke haifar da rashin daidaituwa a cikin chromosomes (tsarin tantanin halitta da ke dauke da kwayoyin halittar jiki). Mutanen da ke fama da ciwon Down suna da chromosomes guda uku 21 maimakon guda biyu. Wannan rashin daidaituwa a cikin aiki na kwayoyin halitta (duk bayanan gadon da ke cikin kwayoyin jikin mutum) da kwayoyin halitta suna haifar da jinkirin tunani na dindindin da jinkirin ci gaba.
Ciwon Down na iya bambanta da tsanani. Ciwon daji yana ƙara zama sananne kuma sa hannu na farko zai iya yin babban bambanci a rayuwar yara da manya masu cutar. A mafi yawan lokuta, wannan cuta ba ta gado, wato ba ta kamuwa da ita daga iyaye zuwa ga ’ya’yansu.
Mongolism, Down Syndrome da Trisomy 21 Down Syndrome yana da sunansa ga likitan Ingila John Langdon Down wanda ya buga a cikin 1866 bayanin farko na mutanen da ke fama da Down's syndrome. A gabansa, wasu likitocin Faransa sun lura da shi. Kamar yadda masu fama da wannan cuta ke da siffofi irin na Mongols, wato, ƙaramin kai, zagaye da lumshe fuska mai ɗimbin idanuwa, wannan cuta da ake kira “Mongoloid idiocy” ko kuma Mongolism. A yau, wannan ɗarikar tana da ma'ana. A cikin 1958, likitan Faransa Jérôme Lejeune ya gano dalilin Down syndrome, wato, ƙarin chromosome akan 21.st biyu na chromosomes. A karon farko, an kafa hanyar haɗi tsakanin rashin hankali da rashin daidaituwa na chromosomal. Wannan binciken ya buɗe sabon damar don fahimta da kuma kula da yawancin cututtukan hauka na asalin kwayoyin halitta. |
Sanadin
Kowane tantanin halitta ya ƙunshi chromosomes 46 da aka tsara a cikin nau'i-nau'i 23 waɗanda aka samo kwayoyin halitta a kansu. Lokacin da kwai da maniyyi suka hadu, kowane iyaye suna aika da chromosomes guda 23 ga yaronsu, ma'ana, rabin kayan jikinsu. Down's syndrome yana faruwa ne ta hanyar kasancewar chromosome 21 na uku, wanda ya haifar da rashin daidaituwa yayin rarraba tantanin halitta.
Chromosome 21 shine mafi ƙanƙanta na chromosomes: yana da kusan kwayoyin halitta 300. A cikin kashi 95 cikin XNUMX na cututtukan Down syndrome, ana samun wannan chromosome da ya wuce gona da iri a cikin dukkan ƙwayoyin jikin waɗanda abin ya shafa.
Siffofin da ba a sani ba na Down syndrome suna haifar da wasu rashin daidaituwa a cikin rabon tantanin halitta. A cikin kusan kashi 2% na mutanen da ke fama da ciwon Down, ana samun ƙarin chromosomes a cikin wasu ƙwayoyin jiki kawai. Ana kiran wannan mosaic trisomy 21. A cikin kusan kashi 3% na mutanen da ke fama da ciwon Down, wani ɓangare na chromosome 21 ne kawai ya wuce gona da iri. Wannan shine trisomy 21 ta hanyar fassarawa.
Tsarin jima'i
A Faransa, trisomy 21 shine babban dalilin rashin tunani na asalin kwayoyin halitta. Akwai kusan mutane 50 masu fama da ciwon Down. Wannan cutar ta shafi 000 a cikin 21 zuwa 1 haihuwa.
A cewar Ma'aikatar Lafiya ta Quebec, ciwon Down yana shafar kusan 21 a cikin 1 haihuwa. Kowace mace na iya samun jariri mai ciwon Down, amma yiwuwar yana karuwa da shekaru. A shekaru 770, mace za ta sami kashi 21 cikin 20 na haɗarin haihuwa tare da Down's syndrome. A shekaru 1, haɗarin shine 1500 a cikin 30. Wannan haɗarin zai ragu daga 1 a cikin 1000 zuwa shekaru 1 kuma daga 100 a cikin 40 zuwa 1 shekaru.
bincike
Ana gano cutar Down syndrome yawanci bayan haihuwa, lokacin da kuka ga sifofin jariri. Duk da haka, don tabbatar da ganewar asali, dole ne a yi karyotype (= gwajin da ke ba da damar nazarin chromosomes). Ana ɗaukar samfurin jinin jariri don tantance chromosomes a cikin sel.
Gwajin haihuwa
Akwai nau'ikan gwaje-gwajen ciki guda biyu waɗanda zasu iya tantance trisomy 21 kafin haihuwa.
The gwajin gwaji wanda aka yi niyya ga duk mata masu juna biyu, tantance ko yuwuwar ko kasadar da jariri zai samu trisomy 21 ya ragu ko babba. Wannan gwajin ya ƙunshi samfurin jini sannan kuma bincike na nuchal translucency, wato sarari tsakanin fata na wuyansa da kashin bayan tayin. Ana yin wannan gwajin a lokacin duban dan tayi tsakanin makonni 11 zuwa 13 na ciki. Lafiya lau tayi.
The gwaje-gwaje na bincike wanda aka yi nufin mata a cikin haɗari mai yawa, suna nuna ko tayin yana da cutar. Ana yin waɗannan gwaje-gwaje yawanci tsakanin 15st kuma 20st satin ciki. Daidaiton waɗannan fasahohin don gwajin Down syndrome ya kai kusan 98% zuwa 99%. Ana samun sakamakon gwajin a cikin makonni 2-3. Kafin a yi ko ɗaya daga cikin waɗannan gwaje-gwaje, ana kuma shawarci mai juna biyu da matar ta su gana da wani mai ba da shawara kan kwayoyin halitta don tattauna haɗari da fa'idodin da ke tattare da waɗannan ayyukan.
Amniocentesis
THEamniocentesis zai iya sanin tabbas ko tayin yana da Down syndrome. Yawancin lokaci ana yin wannan gwajin tsakanin 21thst kuma 22st satin ciki. Ana daukar samfurin ruwan amniotic daga mahaifar mai juna biyu ta hanyar amfani da siririyar allura da aka saka a ciki. Amniocentesis yana ɗaukar wasu haɗari na rikice-rikice, wanda zai iya zuwa har zuwa asarar tayin (1 cikin 200 mata ya shafi). Ana ba da gwajin da farko ga matan da ke cikin haɗari mai yawa dangane da gwajin gwaji.
Chorionic villus samfurin.
Samfurin (ko biopsy) na chorionic villi (PVC) yana ba da damar sanin ko tayin yana da rashin daidaituwa na chromosomal kamar trisomy 21. Dabarar ta ƙunshi cire gutsuttsuran matsewar mahaifa da ake kira chorionic villi. Ana ɗaukar samfurin ta bangon ciki ko a cikin farji tsakanin 11st kuma 13st satin ciki. Wannan hanya tana ɗaukar haɗarin zubar da ciki na 0,5 zuwa 1%.
Labarai na yanzu akan Passeport Santé, sabon gwaji mai alƙawarin gano cutar Down's syndrome https://www.passeportsante.net/fr/Actualites/Nouvelles/Fiche.aspx?doc=nouveau-test-prometteur-pour-detecter-la-trisomie-21 https://www.passeportsante.net/fr/Actualites/Nouvelles/Fiche.aspx?doc=un-test-prenatal-de-diagnostic-de-la-trisomie-21-lifecodexx-a-l-essai-en-france https://www.passeportsante.net/fr/Actualites/Nouvelles/Fiche.aspx?doc=depistage-precoce-de-la-trisomie-21-vers-une-alternative-aux-tests-actuels-20110617 |
Sauran trisomies Kalmar trisomy tana nufin gaskiyar cewa gabaɗayan chromosome ko guntun chromosome ana wakilta a cikin nau'i uku maimakon biyu. Daga cikin nau'i-nau'i 23 na chromosomes da ke cikin kwayoyin jikin mutum, wasu na iya zama batun cikakken trisomies ko partial. Duk da haka, fiye da kashi 95% na 'yan tayin suna mutuwa kafin a haife su ko kuma bayan 'yan makonni na rayuwa. La trisomy 18 (ko Edwards Syndrome) cuta ce ta chromosomal wacce ta haifar da kasancewar ƙarin chromosome 18. An kiyasta abin da ya faru a 1 a cikin 6000 zuwa 8000 haihuwa. La trisomy 13 rashin daidaituwa ne na chromosomal wanda ke haifar da kasancewar ƙarin chromosome 13. Yana haifar da lalacewa ga kwakwalwa, gabobin jiki da idanu, da kuma kurma. An kiyasta abin da ya faru a cikin 1 a cikin 8000 zuwa 15000 haihuwa. |
Tasiri kan iyali
Zuwan gidan jariri mai ciwon Down na iya buƙatar wani lokaci na daidaitawa. Waɗannan yaran suna buƙatar kulawa ta musamman da ƙarin kulawa. Ɗauki lokaci don sanin ɗanku kuma ku sanya masa wuri a cikin iyali. Kowane yaro da ke da ciwon Down yana da nasu hali na musamman kuma yana buƙatar ƙauna da goyon baya kamar sauran.