Ese hari ikibazo kiri kuri chromosomes z'umwana wawe? Reka tuvuge kuri Aneuploidy mu magambo make!

Ni ibisanzwe kuri wowe, utegereje kuba umubyeyi, kugira impungenge nyinshi n'ubwoba kuri ibintu muri iki gihe. Cyane cyane iyo utekereje ku buzima bw'umwana uri mu nda yawe. Hari igihe dusaba abaganga, cyangwa ndetse n'abantu bari munsi yacu, ku "ndwara z'uturemangingo" cyangwa "ibibazo bya chromosomes." Ibyo nibyo tugiye kuvugaho uyu munsi, indwara yitwa Aneuploidy . Izina rishobora kumvikana nk'ikintu gikomeye, ariko ntugahangayike. Tuzabivugaho mu buryo bworoshye, mu buryo ushobora kumva.

Chromosomes ni iki? Reka tubisobanukirwe mu buryo bworoshye.

Tekereza, buri karemangingo gato mu mubiri wacu gafite utubumbe duto tw’imigozi imbere muri ko. Ni cyo twita chromosomes . Muri izi chromosomes harimo ADN yacu, ikaba ari ingenzi cyane. Kimwe na porogaramu iri muri mudasobwa, iyi ADN irimo amabwiriza n'amakuru yose umubiri wacu ukeneye kugira ngo ukure, ukure, no gukora byose. Ayo mabwiriza tuyahabwa na ba mama na ba data. Niyo mpamvu rimwe na rimwe tumera nka ba mama, rimwe na rimwe tukamera nka ba data, kandi rimwe na rimwe tukagira uruvange rwabyo byombi.

Wowe nanjye, twese twahawe chromosomes 23 na mama wacu na 23 na data, byose hamwe bikaba chromosomes 46. Izi zitondetse mu turemangingo twacu; ni ukuvuga 23. Muri zo, 22 ni zimwe kuri buri wese. Impande ya nyuma niyo igena niba turi abagore cyangwa abagabo. Ubusanzwe, niba ari umukobwa, itondetse nka XX , naho niba ari umuhungu, itondetse nka XY .

Uturemangingo tw’umubiri wacu duhora dusimburwa. Iyo uturemangingo dushaje dupfuye, uturemangingo dushya turaremwa. Ibi tubyita igabanywa ry’uturemangingo . Ni inzira yoroshye, nko iyo 'ukoporoye' no 'gushyira' kuri mudasobwa. Iyo uturemangingo twigabanyije muri ubu buryo, uturemangingo twavuze tuba dusa neza neza, kandi tujya mu turemangingo tubiri dushya tuba twaremwe. Ibi bibaho mu buzima bwacu bwose. Nanone, iyo uturemangingo tw’ibanze dukenewe kugira ngo habeho umwana mushya, ni ukuvuga igi rya nyina n’intanga ngabo za se, iri gabanywa ry’uturemangingo naryo ribaho. Ariko, rimwe na rimwe hashobora kubaho amakosa mato n’ibisembwa muri iri gabanywa rya uturemangingo. Umubare nyawo wa uturemangingo tugomba kugabanywa ushobora kuba utari umwe. Iyo bibaye, uturemangingo tumwe na tumwe ntitubona umubare nyawo wa uturemangingo tugomba kugabanywa. Iyo ni yo mpamvu nyamukuru y’indwara za genetiki nka (Turner syndrome) cyangwa (Down syndrome) .

None se, iki ni iki (aneuploidy)?

Mu magambo make, aneuploidy ni ukubura umubare ukwiye wa chromosomes mu turemangingo twacu, ari wo 46. Akenshi, iyi ndwara iterwa n'ikosa rito ribaho iyo intanga za nyina cyangwa se zivutse. Hanyuma, uko umwana atangiye gukura, bitangirana n'impinduka mu mubare wa chromosomes.

Hari ibintu bibiri bishobora kubaho muri ibi:

1.Trisomi: Ibi bivuze ko hari kopi y'inyongera ya chromosome imwe, bigatuma habaho chromosome 47 zose hamwe.

2. Monosomy: Ibi bivuze ko chromosome imwe ibura, bigatuma habaho chromosome 45 zose hamwe.

Iyo umwana asamwe afite ubu bwoko bwa chromosomes butari bwiza, akenshi inda ntirangira neza. Hari ibyago byinshi byo gukuramo inda . Mu by'ukuri, ubushakashatsi bwagaragaje ko iyi ndwara (aneuploidy) ari yo itera hafi kimwe cya kabiri cy'inda zose zikura mu gihembwe cya mbere cy'umubyigano.

Ni ubuhe bwoko bw'ingenzi bwa aneuploidy?

Nkuko twabivuze mbere, hari ubwoko bubiri bw'ingenzi bwa aneuploidy: Trisomie na Monosomie.

Trisomie

Trisomie bivuze ko umwana afite chromosome y'inyongera. Ibi bituma umubare wose wa chromosomes ugera kuri 47. Hari ibintu byinshi by'ingenzi bishobora guterwa n'ibi:

• Down syndrome: Iyi ni yo ndwara twumva cyane. Ikibaho hano ni uko hari kopi y'inyongera ya chromosome 21. Ibyo bivuze ko hari kopi eshatu za chromosome 21. Iyi nanone yitwa (Trisomie 21) .
• (Trisomie 18) Trisomie 18: Aha niho hari kopi y'inyongera ya chromosomee 18. Iyi ndwara yahoze yitwa syndrome ya Edwards , ishobora gutera ibibazo byinshi by'ubuzima ku bana bavukanye iyi ndwara.
• (Trisomie 13) Trisomie 13: Aha niho hari kopi y'inyongera ya chromosomee 13. Mbere izwi nka Patau syndrome , iyi nayo ni indwara itera ibibazo bikomeye by'ubuzima.

Monosomy

Monosomy bivuze ko umwana ahabwa chromosome imwe igabanuka. Ibi bituma habaho chromosome 45 zose hamwe. Ibintu by'ingenzi bikomoka kuri ibi ni ibi:

• Turner syndrome: Iyi ni indwara ya chromosome y'igitsina. Ubusanzwe, umwana w'umukobwa aba afite chromosome ebyiri za X (XX). Umwana w'umukobwa ufite Turner syndrome aba afite chromosome imwe ya X gusa. Iyi yitwa (Monosomy X) . Kubera ko nta chromosome ya Y ibaho, aba bana bavuka ari abakobwa.

Ni nde ushobora kugira ingaruka kuri iki kibazo?

Mu by’ukuri, indwara yitwa aneuploidy ishobora kugira ingaruka ku mwana uwo ari we wese . Bibaho ku buryo butunguranye. Ariko, hari ubushakashatsi bwagaragaje ko ibyago byiyongera gato uko umubyeyi agenda akura . Urugero, umubyeyi w’imyaka 20 afite amahirwe angana na 1.480 yo kubyara umwana ufite ikibazo cy’uturemangingo tw’amaraso, mu gihe umubyeyi w’imyaka 40 afite amahirwe angana na 1 kuri 65. Ariko, ibi ntibivuze ko ababyeyi bato badahura n’ikibazo. Ku bijyanye na syndrome ya Turner, bivugwa ko imyaka idakora cyane.

Niyo mpamvu, niba urimo gutekereza kubyara, vugana na muganga kandi ubone inama ku bijyanye n'uturemangingo.Ni ingenzi cyane kubibona. Hanyuma ushobora kumenya ibi bibazo mbere y'igihe, ukumva ingaruka zawe, ndetse ukavuga no ku bizamini bikenewe.

Ese hari isano iri hagati yo gukuramo inda?

Ubudasa bw'inda mu maraso n'uturemangingo tw'amaraso ni byinshi kurusha uko tubitekereza. Bibaho hafi ku nda imwe muri 150. Aneuploidy kandi ni yo nyirabayazana w'inda hafi 50% z'inda zivuka hakiri kare . Ibi bivuze ko akenshi kamere ikuraho inda idafite ubusumbane mu maraso aho kuyikomeza.

Ni gute aneuploidy ishobora kugira ingaruka ku gutwita?

Kugira chromosome y'inyongera (Trisomie) cyangwa kutagira chromosomes (Monosomie) byombi bishobora kugira ingaruka ku gutwita mu buryo butandukanye.

Trisomie:

Inda nyinshi ziterwa na trisomie zirangira zikuyemo inda . Ubushakashatsi bwerekana ko hafi 35% by'inda zose ziterwa na trisomie. Ariko, ni gake cyane, hafi 1% by'abana bavukana indwara za trisomie. Muri zo, izikunze kugaragara cyane ni abana bafite (Trisomie 21) cyangwa (Down syndrome). Iyo umwana avutse afite iyo ndwara ya trisomie, igipimo cyo kubaho k'umwana gishobora kuba kiri hasi ugereranije n'umwana usanzwe. Ibi biterwa n'ingorane zitandukanye n'ubusembwa bw'umwana avukana.

Monosomi:

Indwara za monosomy ni gake cyane ugereranyije na trisomies. Nkuko bizwi, Monosomy X, cyangwa Turner syndrome, ni yo yonyine ituma umuntu avuka ari muzima. Turner syndrome ibaho iyo hari chromosome X imwe gusa. Kubera ko nta chromosome Y ihari, abo bana bavuka ari abakobwa.

Ni ibihe bimenyetso bya aneuploidy?

Ikimenyetso gikunze kugaragara cya aneuploidy ni ugukuramo inda . Ibi bibaho iyo gutwita kurangiye hagati mu gihembwe. Ibi bikunze kubaho mu gihembwe cya mbere cy'amezi atatu, ariko rimwe na rimwe bishobora kubaho nyuma. Ibimenyetso by'ugukuramo inda birimo:

• Kugira ububabare mu nda yo hasi no mu mugongo.
• Kubabara mu nda nko mu gihe cy'imihango.
• Wenda gato, wenda kuva amaraso menshi.

Icy'ingenzi: Niba ubona ko ufite ibi bimenyetso, ugomba guhita ubonana na muganga.

Nubwo hafi 50% by'inda ziterwa n'impamvu za genetiki nka aneuploidy, abana bashobora kuvukana iyi ndwara rimwe na rimwe. Bene abo bana bakunze kugira ibibazo byo kuvukana , ndetse no gutinda mu mikurire no mu bwenge .

Kuki ibi (aneuploidy) bibaho? Ni izihe mpamvu?

Aneuploidy ni ubusembwa bw’uturemangingo. Akenshi, ubu busembwa bubaho mbere y’uko intanga ya nyina n’intanga za se zihurira, ni ukuvuga mu gihe cy’ikorwa ry’igi n’intanga. Twavuze mbere ku kwigabanya kw’uturemangingo. Amagi n’intanga biremwa n’uburyo bwihariye bwo kwigabanyamo uturemangingo bwitwa meiosis . Aha, akaremangingo gafite chromosomes 46 kigabanyamo kabiri, kagakora uturemangingo tune (amagi cyangwa intanga) buri kamwe gafite chromosomes 23. Aneuploidy ibaho iyo chromosomes ebyiri zidatandukanye neza muri iyi meiosis, kandi amagi cyangwa intanga zimwe na zimwe zifite chromosomes nyinshi cyane cyangwa nke cyane.

Iki ni ikintu kibaho mu buryo butunguranye kandi butunguranye . Nk'uko icyuma gicapa mu biro rimwe na rimwe gihagarara gukora mu buryo butunguranye, cyangwa urupapuro rugacapwa ahantu hatandukanye, ADN yacu nayo ishobora kugira amakosa nk'aya. Nta muntu ushobora kuvuga igihe cyangwa uko bizagenda. Niba ushaka kumenya byinshi kuri ibi, ni byiza kuvugana na muganga ukabona inama ku bijyanye n'imiterere y'umubiri.

Ese hari ibizamini bishobora kugaragaza aneuploidy mu gihe cyo gutwita?

Yego, hari ibizamini byinshi bishobora gukorwa mu gihe utwite kugira ngo hamenyekane niba umwana afite indwara yitwa aneuploidy. Bimwe muri ibyo ni ibizamini byo gusuzuma, ibindi ni ibizamini byo gusuzuma.

• Gupima mbere yo kubyara bidakoreshejwe mu buryo busanzwe (NIPT) / Gupima mbere yo kubyara bidakoreshejwe mu buryo busanzwe (NIPS): Iki ni ikizamini cyoroshye cy'amaraso gishobora gukorwa nyuma y'ibyumweru 10 atwite. Gifata icyitegererezo cy'amaraso y'umubyeyi kigashaka ADN y'umwana kugira ngo harebwe niba ashobora kurwara indwara nka Down syndrome, Trisomy 18, na Trisomy 13. Ibi bikubwira gusa ibyago, ntabwo ari impamvu nyayo.
• Gupima Viliyonike (CVS): Iki ni ikizamini gikorwa hagati y'ibyumweru 10 na 13 byo gutwita. Aha, muganga afata urugero ruto cyane rw'uturemangingo two mu nyababyeyi maze akadupima niba hari indwara za genetiki. Ibi bishobora kumenya neza indwara nka aneuploidy. Ariko, bifite ibyago bike cyane byo gukuramo inda.
• Amniocentesis: Iki ni ikizamini gikunze gukorwa hagati y'ibyumweru 15 na 20 byo gutwita. Aha, muganga afata urugero ruto rw'amazi y'umwana akikije umwana agasuzuma uturemangingo tw'umwana turimo. Ibi bishobora kandi kumenya neza indwara nka aneuploidy n'izindi ndwara zimwe na zimwe zo kuvukana. Hari kandi ibyago bike cyane byo gukuramo inda.

Mbere yo gufata icyemezo kuri ibi bipimo, ni ngombwa cyane kuganira na muganga wawe witonze no gusobanukirwa ibyiza n'ibibi.

Aneuploidy ivurwa ite?

Mu by’ukuri, nta buryo bwihariye bwo kuvura iyo ndwara (Aneuploidy).. Indwara nyinshi zo kutagira amaraso menshi mu mubiri zihitana umwana, cyangwa zigatera ibibazo bikomeye nk'ubumuga bwo mu mutwe n'ubumuga bw'umubiri. Kubwibyo, ubuvuzi bugamije kuvura ibimenyetso n'ingorane za buri mwana. Ibyo bivuze gushyiraho gahunda y'ubuvuzi ijyanye na buri mwana kandi ikamurinda indwara.

Niba utwite, hari ibyago byo gukuramo inda bitewe na (aneuploidy). Gukuramo inda ni ikintu kigoye cyane ku mugore, haba ku mubiri no mu byiyumvo. Ibi nibibaho, ugomba kwiha umwanya wo gukira.

Niba urimo gutekereza gushinga umuryango, ganira na muganga ku bijyanye no gupima imiterere y'umubiri n'uburyo bwo kongera amahirwe yo gutwita neza.

Ese hari icyo twakora kugira ngo tugabanye ibyago byo kurwara aneuploidy?

Aneuploidy ntishobora kwirindwa burundu kuko ari inenge iterwa n’uturemangingo. Ariko hari ibintu byinshi dushobora gukora kugira ngo tugabanye ibyago byo kubyara umwana:

• Kurya indyo yuzuye: Kurya ibiryo bifite intungamubiri ni ingenzi cyane mu gihe cyo gutwita.
• Jya gupima imiterere y'umubiri mbere yo guteganya gutwita: Cyane cyane niba hari umuntu wo mu muryango wawe ufite indwara y'imiterere y'umubiri, cyangwa niba ufite imyaka irenga 35.
• Kureka kunywa itabi n'inzoga burundu.
• Gufata vitamine zo mu gihe cyo kubyara byasabwe na muganga wawe neza: cyane cyane vitamine zirimo aside folike.

Niba inda yawe yavuyemo kubera aneuploidy, ushobora kongera gusama?

Yego, akenshi birashoboka . Amahirwe yo gukuramo inda bitewe na aneuploidy yongeye kubaho ni make cyane. Kuko, nk'uko twabivuze mbere, ibi bibaho mu buryo butunguranye. Abagore benshi babyaye abana bazima nyuma yo gukuramo inda bitewe na aneuploidy. Ariko, ni byiza kuganira na muganga wawe ku ngaruka zawe n'ibizamini bishobora gukorwa mbere yo kugerageza kongera gusama.

Ni iki wakwitega niba ufite umwana ufite aneuploidy?

Akenshi, iyo hagaragaye ikibazo (aneuploidy), ababyeyi bagomba guhura n’ikibazo cyo gukuramo inda. Iki ni ikintu kibabaje cyane. Ariko icy’ingenzi gusobanukirwa ni uko ibi byatewe n’ubumuga bw’uturemangingo bwabayeho mu gihe cyo gusama, atari ukubera ikintu cyose umubyeyi yakoze mu gihe cyo gutwita. Muganga wawe azagufasha gukira mu buryo bw’umubiri no mu byiyumvo nyuma yo gukuramo inda.

Iyo umwana avutse afite aneuploidy, uwo mwana ashobora guhura n'ibibazo byo kudakura neza , kuba mugufi, kuba afite inenge, ndetse n'ubumuga bwo mu mutwe mu buzima bwe bwose. Kubwibyo, ni ngombwa cyane kugenzura ubuzima bw'umwana buri gihe kwa muganga no kumuvura no kumushyigikira bikenewe. Nta muti wuzuye wa aneuploidy uhari.

Ni ryari ukwiye kujya kwa muganga?

• Ufite ibimenyetso by'inda yavuyemo.Niba ufite ibimenyetso (ububabare bwo mu nda, ububabare bw'umugongo, kuva amaraso), hita ubonana na muganga. Azakubwira niba ukeneye kujya kwa muganga cyangwa utagomba kujyayo.
• Nyuma yo gukuramo inda, niba ubonye kimwe muri ibi bimenyetso, hita ubonana na muganga kuko bishobora kuba ikimenyetso cy'ubwandu:
• Niba ufite ibicurane n'umuriro (Ubukonje, Umuriro)
• Niba uva amaraso menshi (kuva amaraso menshi)
• Niba ukunze kugira ububabare n'ingorane

Ni ibihe bibazo by'ingenzi ugomba kubaza muganga wawe?

Iyo uganiriye na muganga kuri ibi, ntukibagirwe kubaza ibi bibazo:

• Ese mfite ibyago byo kubyara umwana ufite indwara y’uturemangingo?
• Nyuma yo gukuramo inda kubera aneuploidy, umubiri wanjye umeze neza bihagije ku buryo nabyara undi mwana?
• Niba mfite ibyago byo kubyara umwana ufite indwara y’uturemangingo, ese murangira inama yo gupimwa mbere yo kubyara?

Ni irihe tandukaniro riri hagati ya (Aneuploidy) na (Polyploidy)?

Aneuploidy na polyploidy byombi ni indwara za gene ziterwa n'impinduka mu mubare wa chromosomes muri ADN y'umwana. Ariko hari itandukaniro rito.

• Aneuploidy ni ukuba hari chromosome imwe y'inyongera (urugero: 47) cyangwa chromosome imwe nkeya (urugero: 45). Ni gake cyane, chromosome nyinshi zishobora kubura/kongerwamo.
• Polyploidy ni ikibazo cyo kugira izindi chromosomes (ni ukuvuga chromosomes 23). Urugero, niba uzungura chromosomes 23 kuri nyoko na chromosomes 46 kuri so (ni ukuvuga inshuro ebyiri z'umubare usanzwe), byitwa Triploidy. Izi ni indwara zidasanzwe kandi akenshi zihitana.

Amaherezo, ibintu byo kuzirikana (Ubutumwa bwo kujyana mu rugo)

Aneuploidy ishobora gutera ubwoba iyo ubyumvise. Ariko ibuka ko akenshi bibaho mu buryo butunguranye, atari ikosa ryawe bwite. Nk'uko mudasobwa dukoresha ihita ihagarara gukora, ndetse n'iyo uturemangingo twacu twigabanyijemo ibice, hari igihe amakosa mato ashobora kubaho.

Igikuru ni ukumenya ko utari wenyine. Hari abaganga, umuryango, n'inshuti bashobora kuganira kuri ibi, bakakugira inama, kandi bakagufasha. Niba uteganya gutwita, cyangwa usanzwe utwite, ganira na muganga wawe ku mugaragaro kuri ibi. Shaka inama ku ngirabuzimafatizo. Ibi bizagufasha gusobanukirwa indwara nka aneuploidy, ibyago byawe, n'ibizamini bishobora gukorwa. Nanone, niba ugomba guhura n'ibintu bibabaje nko gukuramo inda, ntutindiganye kubona ubufasha ukeneye kugira ngo ukire mu buryo bw'umubiri no mu buryo bw'amarangamutima.

Turizera ko byose bizagenda neza!

` Chromosomes, aneuploidy, genes, gutwita, gukuramo inda, Down syndrome, Turner syndrome, trisomie, monosomy, isuzuma ry'uturemangingo, inenge zo kuvuka, ADN, igabanyuka ry'uturemangingo