Ese uhangayikishijwe gato n'uturemangingo tw'umwana wawe? Reka tuvuge kuri Trisomie!

Ushobora kuba warumvise ijambo "Trisomi" cyangwa muganga wawe akaba yarabivuze. Ni ibisanzwe kumva ibi ugize ubwoba kandi ukagira amatsiko. Trisomi ni iki? Kuki bibaho? Bizagira izihe ngaruka ku mwana? Reka tubiganireho byose mu buryo bworoshye ushobora gusobanukirwa.

Trisomie ni iki? Mu magambo make...

Tekereza ko umubiri wacu ugizwe n'uturemangingo duto tubarirwa muri za miriyoni. Muri buri karemangingo, hari ahantu nk'aho ari ho hagenzurirwa ako karemangingo, aho twita nucleus . Muri ako karemangingo harimo ibintu byitwa `Chromosomes` . Ibi bimeze nk'ibitabo. Ibintu byose ku mubiri wacu, buri kintu cyose kidutandukanya n'abandi (nk'uburebure, ibara, ibara ry'umusatsi, ibara ry'amaso) byanditswe muri ibi bitabo byitwa chromosomes. Aya makuru ni yo twita `DNA` .

Ubusanzwe, buri karemangingo mu muntu muzima gafite ibice 23 by'izi chromosomes. Ibyo byose hamwe ni chromosomes 46. Kimwe cya kabiri cy'izi, 23, gikomoka kuri mama wacu, naho ikindi gice, 23, gikomoka kuri data.

Noneho, dore icyo trisomie isobanura: Hari igihe, uretse imwe muri izo chromosomes ebyiri, hongerwaho chromosome y'inyongera. Hanyuma umubare wose wa chromosomes uba 47 aho kuba 46. "Tri" bivuze bitatu, naho "somy" bivuze ikintu gisa n'umubiri. Rero, trisomie ni ukugira chromosomes eshatu aho zigomba kuba ebyiri.

Nubwo umwana ufite iyi chromosome y'inyongera ashobora kuvuka mu gihe cyuzuye, rimwe na rimwe bishobora gutera gukuramo inda mu mezi atatu ya mbere yo gutwita.

Ni ubuhe bwoko bw'ingenzi bwa trisomie?

Abaganga basuzuma iyi ndwara ya trisomie bashingiye ku gice cy’inyuma cya chromosome chromosome iriho. Kubera ko buri gice cy’inyuma cya chromosome gifite uruhare rwihariye mu mubiri wacu, imiterere y’uturemangingo tw’umwana izatandukana bitewe n’aho chromosome y’inyongera yongewe.

Indwara za trisomie zikunze kugaragara cyane ni izi:

• Trisomie 21 : Iyi ni indwara twese tuzi nka Down syndrome . Hari chromosome y'inyongera muri chromosome ya 21.
• Trisomie 18 : Iyi yitwa kandi indwara ya Edward .
• Trisomie 13 : Iyi yitwa Patau syndrome .

Mu buryo nk'ubwo, chromosomes ebyiri za 23 mu miterere yacu ya gene zigena igitsina cyacu. Izi zitwa `XX` ku mugore na `XY` ku mugabo. Iyo uturemangingo twigabanyijemo ibice, hari n'ibitagenda neza muri izi chromosomes z'igitsina, bigatera trisomies. Ingero zabyo ni izi:

• Trisomi X (`Trisomi X` cyangwa `XXX`)
• Indwara ya Klinefelter (`Klinefelter syndrome` cyangwa `XXY`)
• Indwara ya Yakobo (`Indwara ya Yakobo` cyangwa `XYY`)

Ni nde ushobora kwibasirwa cyane n'iyi ndwara ya trisomie?

Mu by’ukuri, trisomie ishobora kubaho mu gihe icyo ari cyo cyose cyo gutwita. Ariko, byagaragaye ko ibyago biba byinshi kurushaho iyo abagore barengeje imyaka 35 batwite . Ariko, igitangaje ni uko abana benshi bavukana trisomie bavuka ku babyeyi bari munsi y’imyaka 35. Ibi biterwa n’uko, mu mibare, abana benshi bavuka ku bantu bari munsi y’imyaka 35.

Igikuru: Trisomie si ikintu kibaho bitewe n'ikosa rya nyina cyangwa se. Ni impinduka mu buryo bw'uturemangingo zibaho ku buryo butunguranye.

Trisomie ikunze kugaragara gute?

Ubwoko bwa trisomie bukunze kugaragara cyane ni trisomie 21, cyangwa Down syndrome. Urugero, muri Leta Zunze Ubumwe za Amerika honyine, abana bagera ku 6.000 bavuka bafite Down syndrome buri mwaka. Ni ukuvuga ko umwe mu bana 700 avuka.

Ni ibihe bimenyetso bya trisomie mu gihe utwite?

Mu gihe cyo gusuzuma ultrasound utwite, muganga wawe azareba ibimenyetso bya trisomie. Bimwe mu bimenyetso birimo:

• Ingano y'amazi akikije umwana (amniotic fluid) ni nto cyane.
• Umugozi w'umwana ufite umutsi umwe gusa aho kuba umubare usanzwe w'imitsi.
• Placenta ntoya ugereranyije n'ibisanzwe.
• Imigendere y'umwana (kwizunguza) isa nkaho ari mike.
• Umwana asa n'umuto ugereranije n'imyaka ye nyayo.
• Hari ibintu bimwe na bimwe bitagenda neza ku mubiri, urugero nk'ibibazo bimwe na bimwe by'umutima cyangwa indwara y'akanwa gacitse.

Ni ibihe bimenyetso bigaragara nyuma yo kuvuka k'umwana?

Ibimenyetso umwana ashobora kugira bishobora gutandukana bitewe n'ubwoko bwa trisomie. Bimwe mu bimenyetso bisanzwe birimo:

• Kuba mugufi ugereranije n'ibisanzwe (uburebure bugufi).
• Isura izengurutse n'isura irambuye.
• Isura igaragara ku maso.
• Akanwa gacitse.
• Kutamera neza kw'ingingo z'imbere (nk'umutima, ibihaha, impyiko) cyangwa ibibazo mu mikorere yazo.
• Gutinda mu mikurire n'ubumuga bwo mu mutwe.

Kuki iyi trisomie ibaho? Ibisobanuro bya siyansi cyane...

Chromosomes mu mibiri yacu ikorwa mu buryo bwihariye. Uru rukurikirane rw'uturemangingo rumeze nk'"igishushanyo mbonera" cy'abo turi bo. Iyo uturemangingo tw'imyanya myibarukiro tukozwe (intanga ngabo mu bagabo, amagi mu bagore), dutangirana n'akaremangingo kamwe gafite intanga ngabo. Aka karemangingo gahita kanyura mu nzira yitwa meiosis . Aha niho akaremangingo kamwe kigabanya kabiri, kagakora uturemangingo tune. Buri karemangingo gashya gafite kimwe cya kabiri cya ADN mu karemangingo k'umwimerere, cyangwa chromosomes 23.

Iyi ni inzira yo kwigabanyamo ibice by'uturemangingo (meiosis).Hari igihe ingirabuzimafatizo zishobora kwigabanyamo ibice bitari byo. Iyo ibyo bibaye, kopi y'inyongera y'ingirabuzimafatizo iraza igahuza ingirabuzimafatizo ebyiri. Ubusanzwe, hagomba kuba hari ingirabuzimafatizo ebyiri muri buri ngirabuzimafatizo. Ariko hano, ingirabuzimafatizo ya gatatu irakora kandi igahuza izo ngirabuzimafatizo. Ibyo byitwa trisomie.

Trisomie ibaho mu gihe cyo gusama . Iki ni ikintu gitunguranye, kidaterwa n'ikintu cyose umubyeyi yakoze mu gihe atwite. Ariko, nk'uko byavuzwe mbere, ibyago byo kurwara inda biri hejuru gato ku bantu batwite bamaze imyaka 35.

Trisomie ipimwa ite?

Gupima imiterere y’uturemangingo mu gihe cyo gutwita bishobora gutanga ibimenyetso by’uko hari trisomie. Nyuma yo kuvuka k’umwana, ikibazo cyemezwa n’isuzuma ry’umubiri n’ikindi gipimo cya chromosome y’uturemangingo hakoreshejwe ingero z’amaraso y’umwana.

Ni ibihe bipimo bikoreshwa mu gusuzuma trisomie?

Mu gihe cyo gutwita, muganga wawe ashobora gusaba ko umubyeyi wawe apimwa amaraso ndetse akanasuzumwa. Nkuko byavuzwe mbere,suzumwa rizareba ibintu nk'amazi menshi akikije umwana, ubushobozi bwo kugaragara neza kw'inyuma y'uruhinja , n'uburebure bw'ingingo z'umwana. Ibi bishobora kuba ibimenyetso by'uko umwana afite ikibazo mu miterere ye.

Nyuma y'ibi bizamini by'ibanze, hari ibindi bizamini byihariye kugira ngo byemeze indwara:

• Gupima intanga ngore (CVS): Hagati y'ibyumweru 10 na 13 by'inda, hafatwa ingero nto y'uturemangingo mu nyababyeyi kugira ngo hasuzumwe imiterere y'uturemangingo n'igitsina cy'umwana.
• Amniocentesis: Hagati y'ibyumweru 15 na 20 byo gutwita, hafatwa urugero ruto rw'amazi y'imyororokere akikije umwana kugira ngo harebwe niba hari ibibazo by'ubuzima bishobora kubaho.
• Gupima amaraso y'uruhinja hakoreshejwe PUBS: Hafatwa amaraso make mu muyoboro w'uruhinja kugira ngo harebwe ubuzima bw'umwana.
• Gupima umwana utwite bitanyuze mu maraso (NIPT): Nyuma y'ibyumweru 10 umubyeyi atwite, amaraso ya nyina arapimwa kugira ngo harebwe niba umwana afite ibibazo mu ngirabuzimafatizo.

Indwara za trisomie zivurwa zite?

Trisomie ni indwara ibaho ubuzima bwose. Kubwibyo, ubuvuzi bwigihe kirekire burakenewe kugira ngo ugabanye ibimenyetso bijyana n'iyi ndwara. Uburyo bwo kuvura abana bavutse bafite trisomie burimo:

• Kubagwa kugira ngo hakosorwe ibibazo by'umubiri.
• Gutanga inkunga mu burezi .
• Imvugo, imyitwarire n'ubuvuzi bw'umubiri .
• Imiti yo kugenzura ibimenyetso by'izindi ndwara zishobora kugaragara uko igihe kigenda gihita.

Ese hari uburyo bwo kugabanya ibyago byo kurwara trisomie?

Mu by’ukuri, indwara za genetiki nka trisomie ntizishobora kwirindwa. Kubera ko inenge ya chromosome ibaho mu buryo butunguranye mu gihe cy’igabanyuka ry’uturemangingo, ushobora kugabanya ibyago byo kubyara umwana ufite ikibazo cya genetiki ukora ibi bikurikira:

• Gusobanukirwa ingaruka zo gutwita niba urengeje imyaka 35.
• Gusuzuma imiterere y'umubiri mbere yo gutwita.
• Kwirinda ikoreshwa ry'itabi n'inzoga.
• Irinde ubuzima bwawe urya indyo yuzuye kandi ugakora siporo buri gihe.

Ni gute iyi trisomie izagira ingaruka ku mwana wanjye?

Kubera ko chromosome y'inyongera ihindura "icyerekezo" cy'umwana, ishobora gutera ubusembwa umwana avukana ( nk'imiterere yihariye mu maso) n'ubumuga bwo mu mutwe. Abana benshi bavukanye trisomy 12 bazahura n'ibindi bibazo by'ubuzima (nk'indwara zo mu matwi zikunze kwandura, indwara z'umutima, no guhumeka mu gihe cyo gusinzira) nyuma yo kumenyekana iyo ndwara. Ariko, iyo umwana avuwe neza, ashobora kubaho ubuzima bwiza kandi bushimishije .

Ariko, abana bavutse bafite indwara nka Trisomy 18 cyangwa Trisomy 13 baba bafite amahirwe make yo kurokoka nyuma y'ibyumweru bike bya mbere by'ubuzima (igihe cyo kubyara) bitewe n'ubukana bw'iyi ndwara (cyane cyane gutinda cyangwa ibitagenda neza mu mikurire y'ingingo). Muganga wawe azasuzuma ubuzima bw'umwana wawe kandi atange ubuvuzi kugira ngo yongere amahirwe yo kurokoka ku bana bavutse bafite izi ndwara.

Ni ryari ngomba kujya kwa muganga?

Ingaruka imwe ya trisomie ni ibyago byo gukuramo inda . Ibi bikunze kubaho mu mezi atatu ya mbere yo gutwita. Niba ufite kimwe mu bimenyetso byo gukuramo inda (byavuzwe hepfo), hita ubonana na muganga wawe:

• Kubabara mu nda yo hasi, kuribwa mu nda.
• Kubabara umugongo wo hasi.
• Ububabare bwo mu nda.
• Kuva amaraso make cyangwa menshi.
• Kurwara ibicurane no kurwara umuriro.

Ni ibihe bibazo by'ingenzi ugomba kubaza muganga?

Niba ufite ikindi kibazo kuri ibi, ntutinye kubaza muganga wawe. Dore bimwe mu bibazo ushobora kubaza:

• Nigute nagabanya ibyago byo kubyara umwana ufite indwara ya genetiki nka trisomie?
• Ni ibihe bipimo by'igihe cyo kubyara mwangira inama yo kwemeza niba umwana wanjye afite ikibazo cy'uturemangingo?
• Ese nshobora gutwita neza nyuma yo gusama indwara ya trisomie?

Ni irihe tandukaniro riri hagati ya Trisomie na Monosomie?

Ibi byombi ni indwara ziterwa n'uturemangingo.

• Trisomi ni ukuba hari kopi y'inyongera ya chromosome.
• Monosomy ni ukubura kopi imwe ya chromosome (ni ukuvuga kubura chromosome imwe).

Izi ndwara zombi ziterwa n’impinduka mu miterere y’uturemangingo ziba mu gihe cy’igabanyuka ry’uturemangingo. Ibi bintu bidasanzwe ntibishobora kwirindwa ko bibaho mu gihe cy’igabanyuka ry’uturemangingo.

Icyo ugomba kwibuka mu byo twaganiriyeho (Ubutumwa bwo kujyana mu rugo)

Kubera ko nta buryo bwo kwirinda indwara ziterwa n’uturemangingo nka trisomie, niba uteganya gutwita, ganira na muganga wawe ku bijyanye no gupima uturemangingo kugira ngo urebe ibyago byo kubyara umwana ufite ikibazo cy’uturemangingo.

Niba usanzwe urwaye indwara ya trisomie mu gihe utwite, ntugatinye. Hari ubufasha bwinshi n'ibikoresho byinshi bigufasha wowe n'umwana wawe kubaho ubuzima bwiza kandi bushimishije. Ubujyanama mu by'uturemangingo bushobora kugufasha gusobanukirwa imimerere y'umwana wawe no kumutaho no kumushyigikira akeneye uko agenda akura. Wibuke ko utari wenyine.

Trisomie , chromosomes, genes, Down syndrome, gutwita, gupima gene, Patau syndrome, Edward syndrome