Mukati
Trisomy 21 (Down Syndrome)
Trisomy 21, inonziwo Down Syndrome, chirwere chinokonzerwa nekusajairana nemakromosomes (macell structures ane genetic material yemuviri). Vanhu vane Down's syndrome vane machromosome matatu 21 pane peya imwe chete. Uku kusaenzana mukushanda kwegenome (ruzivo rwese rwenhaka rwuri mumasero emunhu) uye chipenyu chinoita kuti pfungwa dzipere uye kunonoka kwekukura.
Down's syndrome inogona kusiyana mukuomarara. Chirwere chacho chiri kuwedzera kuzivikanwa uye kupindira kwepakutanga kunogona kuita mutsauko mukuru muhutano hwevana nevakuru vane chirwere. Muzviitiko zvakawanda, chirwere ichi hachisi chenhaka, kureva kuti hachiparadzirwe kubva kuvabereki kuenda kuvana vavo.
Mongolism, Down Syndrome uye Trisomy 21 Down Syndrome ine zita rayo kuna chiremba wechiRungu John Langdon Down uyo akaburitsa muna 1866 tsananguro yekutanga yevanhu vane Down's syndrome. Pamberi pake, vamwe vanachiremba veFrance vakanga vazviona. Sezvo vanorwara vacho vaine hunhu hweMongol, ndiko kuti, musoro mudiki, chiso chakatenderera uye chakati sandara chine maziso akarereka uye akatsvuka, hosha iyi yainzi "Mongoloid idiocy" kana kuti Mongolism. Nhasi, dhinominesheni iyi iri kunyanya kupejera. Muna 1958, chiremba wechiFrench Jérôme Lejeune akaziva chikonzero cheDown syndrome, kureva, imwe chromosome pa21.st maviri echromosomes. Kekutanga, chinongedzo chakasimbiswa pakati pekuremara kwepfungwa uye chromosomal abnormality. Kuwanikwa uku kwakavhura mikana mitsva yekunzwisisa uye kurapwa kwezvirwere zvepfungwa zvakawanda zvemajini. |
Zvinokonzera
Sero rega rega remunhu rine machromosomes 46 akarongwa ari maviri maviri maviri panowanikwa majini. Apo zai nembeu zvinosangana, mubereki mumwe nomumwe anopfuudza machromosome 23 kumwana wake, namamwe mashoko, hafu yemavara avo okugara nhaka. Down's syndrome inokonzerwa nekuvapo kwechromosome 23 yechitatu, inokonzerwa nekusagadzikana panguva yekuparadzaniswa kwesero.
Chromosome 21 ndiyo idiki pane machromosomes: ine mazana matatu emajini. Mu300% yezviitiko zveDown's syndrome, iyi chromosome yakawandisa inowanikwa mumaseru ese emuviri weavo vakabatwa.
Rarer mafomu eDown syndrome anokonzereswa nezvimwe zvisizvo muchikamu chesero. Munenge 2% yevanhu vane Down's syndrome, machromosome akawandisa anowanikwa mune mamwe masero emuviri chete. Izvi zvinonzi mosaic trisomy 21. Muinenge 3% yevanhu vane Down's syndrome, chikamu chekromosome 21 chete ndicho chakawandisa. Iyi trisomy 21 by translocation.
Kuwanda
MuFrance, trisomy 21 ndiyo inotungamira honzeri yehurema hwepfungwa hwemabviro. Kune vanhu vangangosvika makumi mashanu vane Down's syndrome. Iyi pathology inobata 50 mu000 kusvika ku21 kuberekwa.
Sekureva kweQuebec Ministry of Health, Down's syndrome inobata vangangoita makumi maviri nerimwe mumunhu mumwe chete anozvarwa. Chero mukadzi anogona kuita mwana ane Down's syndrome, asi mukana unowedzera nezera. Pazera remakore 21, mukadzi angave ane 1 mu770 njodzi yekuva nemwana ane Down's syndrome. Pazera re21, njodzi ndeye 20 mu1. Iyi njodzi yaizoderera kubva pa1500 mu30 kusvika ku1 makore uye kubva pa1000 mu1 kusvika 100 makore.
chirwere
Kuongororwa kweDown syndrome kunowanzoitwa mushure mekuzvarwa, paunoona maitiro emwana. Zvisinei, kuti usimbise kuongororwa, zvakakosha kuita karyotype (= muedzo unobvumira kuongorora makromosomes). Muenzaniso weropa remwana unotorwa kuti uongorore machromosome ari mumasero.
Prenatal tests
Kune marudzi maviri ekuongororwa kwepamuviri anokwanisa kuongorora trisomy 21 asati aberekwa.
The kuongorora bvunzo iyo inoitirwa vakadzi vese vane pamuviri, ongorora kana mukana kana njodzi yekuti mwana ave netrisomy 21 yakaderera kana yakakwirira. Muedzo uyu une sampuli yeropa uyezve kuongororwa kwe nuchal translucency, kureva nzvimbo iri pakati peganda remutsipa uye musana we "fetus". Muedzo uyu unoitika panguva yeultrasound pakati pemasvondo gumi nerimwe negumi nematatu ekuzvitakura. Yakachengeteka kune fetus.
The diagnostic bvunzo izvo zvakagadzirirwa vakadzi vari pangozi yakakura, zvinoratidza kana fetus ine chirwere. Iyi miedzo inowanzoitwa pakati pe15st uye 20st vhiki yekuzvitakura. Kurongeka kwemaitiro aya ekuongorora Down syndrome kunosvika 98% kusvika 99%. Miedzo mhinduro inowanikwa mumavhiki e2-3. Vasati vaita ongororo idzi, mudzimai akazvitakura newavakaroorana naye vanoyambirwawo kuti vasangane nenyanzvi munyaya dzezvemadzinza kuti vakurukure njodzi nemabhenefiti ane chekuita nekupindira uku.
Amniocentesis
THEamniocentesis inogona kuona nechokwadi kana chibereko chine Down's syndrome. Muedzo uyu unowanzoitwa pakati pemakumi maviri nerimwest uye 22st vhiki yekuzvitakura. Muenzaniso weamniotic fluid kubva muchibereko chemukadzi ane pamuviri unotorwa pachishandiswa tsono nhete inopinzwa mudumbu. Amniocentesis inotakura dzimwe njodzi dzezvinetso, izvo zvinogona kusvika kusvika pakurasikirwa kwe fetus (1 muvakadzi mazana maviri inobatwa). Muedzo unopihwa zvakanyanya kuvakadzi vari panjodzi huru zvichienderana nekuongororwa bvunzo.
Chorionic villus sampling.
Sampling (kana biopsy) yechorionic villi (PVC) inoita kuti zvikwanise kuziva kana fetus ine chromosomal abnormality se trisomy 21. Nzira iyi inosanganisira kubvisa zvidimbu zve placenta zvinonzi chorionic villi. Muenzaniso unotorwa kuburikidza nemadziro emimba kana kuti vaginally pakati pe11st uye 13st vhiki yekuzvitakura. Iyi nzira inotakura njodzi yekubva pamuviri ye0,5 kusvika 1%.
Nhau dzazvino paPasseport Santé, bvunzo nyowani yekuona 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 |
Mamwe matrisomies Izwi rekuti trisomy rinoreva kuti chromosome yese kana chidimbu chekromosome chinomiririrwa nekatatu pane maviri. Pakati pemakumi maviri nematatu emakromosomes aripo mumasero emunhu, mamwe anogona kunge ari nyaya yematrisomies akazara kana chidimbu. Zvakadaro, vanopfuura 23% vevana vanobatwa nechirwere ichi vanofa vasati vazvarwa kana mushure memavhiki mashoma ekurarama. La trisomy 18 (kana Edwards syndrome) ichromosomal abnormality inokonzerwa nekuvapo kweimwe chromosome 18. Chiitiko chacho chinofungidzirwa pa1 mu6000 kusvika ku8000 yekuzvarwa. La trisomy 13 is a chromosomal abnormality inokonzerwa nekuvapo kwekuwedzera 13 chromosome. Zvinokonzera kukanganisa kuuropi, nhengo nemaziso, pamwe nekusanzwa. Chiitiko chayo chinofungidzirwa pa1 mu8000 kusvika ku15000 kuberekwa. |
Migumisiro pamhuri
Kusvika mumhuri yemwana ane Down's syndrome kungada nguva yekugadzirisa. Vana ava vanoda kuchengetwa kwakakosha uye kutarisirwa zvakanyanya. Tora nguva yekuziva mwana wako uye kumuitira nzvimbo mumhuri. Mwana wega wega ane Down's syndrome ane hunhu hwake hwakasiyana uye anoda rudo rwakakura nekutsigirwa sevamwe.