Nzeve chinhu chakakosha chinogashira mumuviri wemunhu, chinoita basa mukuchengeta kunzwa kwekunzwa uye kuenzana kwemuviri.Kuremara kwekunzwa kunoreva kukanganiswa kwehupenyu kana kushanda kwekutapurirana kwenzwi, kurira kwekunzwa, uye nzvimbo dzekunzwa pamatanho ese muhurongwa hwekunzwa, zvichikonzera madhigirii akasiyana ekurasikirwa kwekunzwa.Zvinoenderana nedata rakakodzera, kune vanhu vangangosvika 27.8 miriyoni vane hurema hwekunzwa uye mutauro muChina, pakati pavo vana vachangozvarwa ndiro boka guru revarwere, uye vanosvika zviuru makumi maviri vachangozvarwa vanotambura nekusanzwa zvakanaka gore rega rega.
Hudiki inguva yakakosha pakukura kwekunzwa uye kutaura kwevana.Kana zvakaoma kugashira masaini akapfuma masaini panguva ino, zvinozotungamira mukusakwana kwekutaura kwekutaura uye kuve kwakashata pakukura kwevana.
1. Kukosha kwekuongorora majini kune matsi
Parizvino, kurasikirwa nekunzwa chirema chakajairika pakuzvarwa, chinoiswa pekutanga pakati pehurema hushanu (kusanzwa, kusaona, kuremara, hurema hwenjere, uye hurema hwepfungwa).Maererano nenhamba dzisina kukwana, kune vanenge 2 kusvika ku3 vana vasinganzwi muvana 1 000 vachangobva kuberekwa muChina, uye chiitiko chekurasikirwa kwekunzwa muvana vachangoberekwa i2 kusvika ku3%, iyo yakakura zvikuru kupfuura yezvimwe zvirwere muvana vachangoberekwa.Inenge 60% yekurasikirwa kwekunzwa kunokonzerwa nemararamiro ematsi, uye kuchinja kwemajini ematsi kunowanikwa mu70-80% yevakagara nhaka matsi.
Naizvozvo, kuongororwa kwemajini kwekusanzwa kunosanganisirwa muzvirongwa zvekuongororwa kwevasati vazvarwa.Kudzivirirwa kwekutanga kwekusanzwa kwenhaka kunogona kuitika kuburikidza nekuongororwa kwepamuviri kwemajini ematsi muvakadzi vane pamuviri.Sezvo chiyero chepamusoro chekutakura (6%) chezvakajairwa kushanduka kwemajini ematsi muChinese, vakaroorana vechidiki vanofanira kuongorora jena rematsi mukuongororwa kwewanano kana kuti vasati vasununguka kuitira kuti vakwanise kuona vanhu vasinganzwi nezvinodhaka zvinokonzeresa uye avo vese vanotakura zvakafanana. matsi mutation gene couple.Vakaroorana vane mutation gene carriers vanogona kunyatsodzivirira kusanzwa kuburikidza nekutevera mazano uye kupindira.
2. Chii chinonzi genetic screening yematsi
Kuongorora matsi (Genetic testing) ongororo yeDNA yemunhu kuti paonekwe kana pane gene rekusanzwa.Kana pane nhengo dzinotakura majini ematsi mumhuri, mamwe matanho anowirirana anogona kutorwa kudzivirira kuberekwa kwevana matsi kana kudzivirira kuitika kwematsi muvana vachangoberekwa maererano nemhando dzakasiyana dzematsi.
3. Chiverengero chinoshanda kune matsi genetic screening
-Pre-pregnancy and early pregnancy couples
-Vachangozvarwa
-Varwere matsi uye nhengo dzemhuri yavo, cochlear implant kuvhiyiwa varwere
-Vanoshandisa ototoxic zvinodhaka (kunyanya aminoglycosides) uye avo vane nhoroondo yemhuri-induced matsi.
4. Mhinduro
Macro & Micro-Test yakagadzira kiriniki yakazara exome (Wes-Plus kuonekwa).Kuenzaniswa neyechinyakare kutevedzana, yakazara exome sequencing inoderedza zvakanyanya mutengo uku uchikurumidza kuwana ruzivo rwemajini ematunhu ese eexonic.Kuenzaniswa neyese genome sequencing, inogona kupfupisa kutenderera uye kuderedza huwandu hwekuongororwa kwedata.Iyi nzira inodhura uye inowanzoshandiswa nhasi kuratidza zvikonzero zvezvirwere zvemajini.
Zvakanakira
-Kuonekwa kwakazara: Muedzo mumwe panguva imwe chete unovheneka zviuru makumi maviri zvemazana enyukireya emunhu uye mitochondrial genomes, zvinosanganisira zvirwere zvinopfuura 6,000 mudura reOMIM, kusanganisira SNV, CNV, UPD, dynamic mutations, fusion genome, mitochondrial genome variations, HLA kutaipa uye mamwe mafomu.
-Kurongeka kwepamusoro: mhedzisiro ndeyechokwadi uye yakavimbika, uye yekuona nzvimbo yekuvhara inopfuura 99.7%
-Yakanaka: kuona otomatiki uye kuongorora, tora mishumo mumazuva makumi maviri nemashanu
Nguva yekutumira: Mar-03-2023