Chii chinokonzera Down Syndrome ? Kune marudzi akasiyana here? Pane chimwe chinhu chingaita kuderedza ngozi iyo uchange uine mwana ane Down Syndrome? Unogona here kufanotaura nezvehutano hwako hunobva pazera rako? Izvi zvinongova mashomanana emibvunzo yevabereki-uye-uye vamwe vanobvunza.
Chii Chinonzi Syndrome?
Down syndrome inoreva zvimwe zviitiko zvinowanikwa kuvana nevakuru vane nhamba isingaenzaniswi yenhamba 21 dzechromosomes.
Sevanhu, tine ma chromosomes makumi mana kana makumi maviri nemaviri emakromosomes. 22 mapato maviri anonzi autosomes, uye rimwe divi inonzi chromosomes zvepabonde-kana XY yemukomana uye XX yemusikana.
Down syndrome-trisomy 21-inoitika kana pane 3 pane pane 2 nhamba 21 ma chromosomes (saka, trisomy 21).
Kunzwisisa Genetics
Rudzi rwakanyanya kupfuura rweArt syndrome-yakakwana trisomi 21-inoitika semugumisiro wegadziriro inonzi nondisjunction. Apo sero rinoparadzanisa, chimwe chezvikamu zviviri zvema chromosomes inoenda kumwanasikana mumwe nomumwe. Neine nondisjunction, ma chromosomes maviri emuviri haaparadzani zvakanaka izvo zvinoguma mumakopi maviri echromosome kuenda kune rimwe sero uye hapana kopi inoenda kune imwe sero. Sero inogamuchira 2 makopi echromosome 21 inokonzera Down's syndrome.
Nguva yakawanda yenguva (teremu 3 ma chromosomes) hazvienderani nehupenyu. Muvanhu vakuru, trisomy 21 inoguma mu Down syndrome.
Kune mamwe maitiro pamwe chete . Vacheche vane trisomy 18 , Edwards syndrome, iye zvino dzimwe nguva vanopona paudiki. Klinefelter's syndrome (47 XXY) inowanikwa muna 1 muvana vana mazana mashanu.
Aina
Kuti uchinzwisise zviri nani mazamu eArt syndrome zvakakosha kutanga kutsanangura maitiro akasiyana.
Complete Trisomy 21 - Complete trisomy 21 inoitika sezvinotsanangurwa pamusoro, nenzira inonzi nondisjunction.
Translocation Down syndrome kana Translocation Trisomy 21 -Kurongwa kwekuparadzanisa Down syndrome kunowanzotangira mushure mokuberekwa kwemubereki wemwana ane rudzi urwu rwe Down syndrome.
Mune shanduko, chikamu chimwe che chromosome chinoputika uye chinobatanidzwa kune imwe chromosome munguva yeiiosis-iyo nzira yekuparadzaniswa kwemasero inowanikwa pakuumbwa kwamazai nemumvuri. Izvi zvinoguma mumakopi matatu e-chromosome 21, asi imwe kopi inowanikwa kune imwe chromosome, kazhinji kromosome 14. Nemamwe mazwi, mwana (mubereki ndiye) anopedzisira ane 45 chromosomes, asi anorarama uye anoshanda kazhinji nokuti mazita ekuberekwa anodiwa pa chromosome yechi21 achiripo. Vabereki ava vane "maitiro akaenzana" havakwanise kuve nemafungiro eArt syndrome.
Apo vabereki ava vane vana, zvisinei, vana vanopedzisira vava nemakopi matatu e-chromosome 21, asi kusiyana nedzimwe nondisjunction trisomy, iyo chromosome inowanikwa kune imwe chromosome. Dzidza zvakawanda pamusoro pekutsvaga .
Mosaic Down Syndrome - Mosaic Down syndrome ndiyo inonyanya kufanana neA Down syndrome uye inowanikwa semagumisiro ekuchinja kwemajini anowanikwa mushure mekuberekwa. Mune vana vane masiyo Down syndrome, kwete masero ose ane makopi matatu echromosome 21.
Zviratidzo izvo mwana anezvo zvichange zvichienderana nezana remasero emumumuviri ane chromosome yakawedzerwa.
Maitiro eTrisomy 21 Anoitika
Sezvakataurwa pamusoro apa, trisomy 21 inogona kuitika kuburikidza nekugadzirisa nondisjunction kana kutengesa panguva yekuparadzaniswa kwemasero. Hapana anoziva kuti nei "zviitiko" izvi zviri muchikamu chinoparadzanisa zvichiitika, uye chaizvoizvo, tichifunga nezvehuwandu hwakawanda hwemasero ekuparadzanisa anowanikwa kubva pakuumbwa kwe gametes (sperm nemazai) kumwana achangoberekwa, zvinoshamisa kuti izvi hazviiti zvinoitika kakawanda.
Mukushamwaridzana, kune inenge 90% yevana, iyo yakawanda yekromosome inobva kuna amai (yai).
Inenge 4% yenguva iyo inobva kuna baba (chirume) uye nguva yose inowanikwa mushure mekuberekwa.
Risk Factors
Iyo chete inozivikanwa panjodzi inokonzera Down syndrome panguva ino inosanganisira:
- Kuwedzera kwemakore ekuberekwa
- Kuva nemwana akapfuura ane Down syndrome
- Kuva nemhuri yeArt syndrome
Zvakakosha kucherechedza kuti chechipiri yezvipingamupinyi zvinokonzerwa nehutachiona chete yekutengesa trisomy 21, uye saka zvinowanzoisa njodzi pasi pe5% yezvirwere zve Down syndrome.
Zvakakoshawo kuziva kuti hapana mamiriro okunze (zvakadai seaikisi, makemikari, nezvimwewo) kana maitiro ehutano akabatanidzwa nekuvandudzwa kweArt syndrome. Zvimwe pane kukura nemakore ekuzvarwa, zvinoita sokuti zvinowanzoitika.
Maternal Age
Chiitiko cheA Down syndrome chinowedzera zvakajeka nemakore ekuberekwa, asi zvakakosha kuziva kuti inenge 80% yevana vane Down syndrome vanoberekerwa vakadzi vari vaduku kune makore makumi matatu.
Ngozi ye Down syndrome nezera ndeyekuti:
- Zera 25 - 1 muna 1,200
- Zera 30 - 1 muna 900
- Zera 35 - 1 muna 350
- Zera 40 - 1 mu100
- Zera 45 - 1 muna 30
- Zera 49 - 1 mu10
Kuwedzera Kungozi Nekuzvarwa Kwemangwana
Kana vabereki vane mwana ane Down syndrome, njodzi iyi yekuve nemumwe mwana ane Down syndrome inokwana 1 mu100. Asi zvichienderana nerudzi rwe Down syndrome iyi njodzi inogona kunge yakakwirira kana yakaderera.
Apo mwana aine kutapudza Down syndrome, mazano ekurapa mazita anogona kubatsira kubatsira kana amai, baba, kana kuti vasati vari vatakuri uye saka ingozi mumangwana ekuzorora.
Inhaka Here?
Rudzi rumwe chete rweArt syndrome-kutumirwa Down syndrome-kunoonekwa serhaka. Sezvo rudzi urwu rweArt syndrome runongotarisa chete 4% yezvirwere zve Down syndrome, uye ipapo, chikamu chechitatu chete chevana ava chinofungidzirwa kuti chakagara nhaka ye translocation, chete inenge 1% yeArt syndrome iye zvino "inowanikwa."
Kune vabereki vemwana ane Down syndrome nekuda kwekuendesa, zvinogona kuva nehuwandu hweArt syndrome munguva yekuzorora. Izvi ndezvokuti mumwe wevabereki vaviri angave ari munyanzvi anotakura wekutumira. Dzimwe nguva, kana mubereki wemwana ane kutapudza trisomy 21, ndiye mutakuri anofambisa, uye mumamiriro ezvinhu akadaro hakusi kuwedzerwa njodzi yeArt syndrome munguva inotevera pamuviri. Nezvekupa mazano ekurapa, zvakakoshawo kuti vabereki vemwana vane kutengesa vanoziva kuti vamwe vana vavo vanogona kutakura vatengesi vanoita shanduko, uye ivo pachavo vanogona kuva pangozi yekuva nevana vane Down syndrome mune ramangwana.
Kuedzwa kwepabonde
Vakawanda vanovhiya vanovimbisa kuti vakadzi vanotora pamuviri pazera remakore makumi matatu nemashanu kana kupfuura vanongororwa neArt syndrome. Iyi ichisarudzo chairo pachake uye inongova mutungamiri. Vakaroorana vanogona kusarudza kuongororwa pazera remuduku kana kuongororwa kwepamberi pazera remakore.
Genetic Counseling
Zvichienderana nezviedzo zvinongororwa, uye nhoroondo yemhuri uye yemhuri yehutano, vamwe vakaroorana vanosarudza kuenda kuburikidza nekupa mazano ekugadzira mazita. Izvi zvinobatsira nenzira shomanana
- Zera remadzimai roga roga haringatauri zvakajeka makumi masere ekuberekwa kwevana vane vana vane Down syndrome, kune rumwe rutivi, uye kune zvimwe zvinetso zvekuzvitakura kune vakadzi vanopfuura makore makumi matatu nemashanu.
- Kune dzimwe zvirwere zvepabonde, zvakadai sepabonde chromosome kusagadzikana kunogona kuwanika kune vamwe, asi kwete dzimwe, miedzo inowanzoitirwa Down syndrome.
- Zvimwe zvirwere zvepabonde zvinomhanya mumhuri dzatisingaedzi kuedza.
Mumwe mubvunzo unokosha unobvunzwa usati waedzwa ndewokuti unoda kuziva kana mwana wako ane Down syndrome. Iwe ungaita chimwe chinhu zvakasiyana here? Iwe unofunga kuti zvingakubatsira iwe kugadzirira ramangwana here? A mazano mazano anogona kukubatsira kubvunza mibvunzo iyi uye kuita zvisarudzo zvakakunakira iwe nezvekuedza.
Testing Options
Kune huwandu hutsva hwekuedza hunowanika kune Down syndrome, imwe neimwe yakaitwa panguva yakasiyana yekudzivirira, uye kuva nehutano hwakasiyana hwekunzwisisa, humwe, uye maonero ereve (mazwi ekurapa anonyanya kureva kukwanisa kutora chimwe chinhu pasina vabereki vanotya pasina chikonzero .) Zvimwe zviedzo zvinowanikwa zvinosanganisira:
- Serum alpha-fetoprotein kuedza - Dzidza nezvemakakatanwa e-alpha-fetoprotein, katatu, quad, kana penta kuongorora.
- Ultrasound kuedza - Nuchal fold kuongorora kwepasi syndrome inowanzoitwa pakati pevhiki nesvondo gumi nemana.
- Amniocentesis - Amniocentesis yeArt syndrome inowanzoitwa pakati pevhiki ne20.
- Chorionic villus sampling - Chornionic villus sampling inowanzoitwa pakati pevhiki ne12.
Pasi Pasi
Kana uri mubereki achifunga nezvekuongororwa neA Down syndrome, izvi zvinogona kuva nguva inonetsa. Hapana chimwe chinokosha kwatiri kune utano uye mufaro wevana vedu nevana remangwana. Tichifunga izvi, funga kufunga kumwe usati waenda.
Kana uine mwana ane Down syndrome, mwana uyu angafara here? Zvechokwadi, kunyanya nezvimwe zvezvinetso zvehutano zvinosanganiswa , kuva nevana neArt syndrome kunogona kuva kwakaoma kuvabereki. Izvo zvinopera pasina kutaura. Asi iwe unogona kuona kuseka here? Unowanzoona vana (uye vanhu vakuru) vane Down syndrome inyemwerera? Vazhinji venyu munoti "kazhinji." Iye zvino chimbofunga nezvevamwe vana nevakuru vekuchenjera kwepamusoro avo vanonyanya kushanda. Unoona sevanhu vakawanda vanoseka here?
Aya mazwi haafaniri kutarisirwa kurega kutya kupi zvako. Izvo zvinotyisa ndezvechokwadi uye zvakakosha kubuda pachena. Asi sevabereki, tinowanzoti tariro yedu huru ndeyokuti vana vedu vachava ne "hupenyu" hunofadza uye kuti mufaro hausi nguva dzose unotarisana nekuva neIQ yakakwirira, kana kutarisa semumwe munhu wese. Kutaura zvazviri, vana vakawanda uye vanhu vakuru vane Down syndrome vanoita sevanogona kunyemwerera panguva dzisingakanganwi nevaya vasina chirwere, zvakadai sokupenya pamusoro pezvinhu zvatisingagoni kuchinja munguva yakapfuura kana kufunganya pamusoro pezvo kana kutya ramangwana.
Mukuwedzera, pasinei nehutano hwakabatana neA Down syndrome, vanenge 80% yevana vakaberekwa neArt syndrome nhasi vanotarisirwa kusvika kune makore makumi matanhatu.
Kana uri kufunga nezvekuongorora, kana wakadzidza kuti unogona kuva nemwana ane Down syndrome, tora nguva kuti uverenge tsamba iyi kumubereki mutsva ane mwana ane Down syndrome.
Sources:
National Institute of Child and Human Development. Chii chinokonzera Down syndrome? Updated 01/17/14.