Trisomie 18 ni iki? Reka tubiganireho mu buryo bworoshye.

Ni ibisanzwe kumva ubwoba bwinshi n'impagarara iyo wumvise ijambo utazi nka "Trisomy 18" iyo uganira na muganga wawe ku mwana wawe uri mu nda. Ni iyihe ndwara, kuki ibi bibaho, kandi hari ikintu kitari cyiza cyaje mu mutwe wanjye? Ntugahangayike. Uyu munsi, reka dusobanukirwe indwara yitwa Trisomy 18 mu buryo bworoshye, nk'aho twavuganye n'inshuti.

Trisomiya 18 ni iki mu by'ukuri?

Muri make, trisomie 18 ni indwara iterwa n'ikibazo cya chromosomes zitwara amakuru yerekeye imiterere y'umubiri wacu. Irindi zina ry'iyi ndwara ni syndrome ya Edwards , mu rwego rwo guha icyubahiro umuganga wasobanuye bwa mbere iyo ndwara.

Tekereza umubiri wacu nk'inyubako nini. Igishushanyo mbonera cy'iyi nyubako kiri mu bintu nk'ibitabo byitwa chromosomes. Ingirabuzimafatizo ziri muri ibi bitabo ni amabwiriza y'uko buri gice cy'umubiri wacu, kuva ku ibara ry'umusatsi wacu kugeza ku mikorere y'umutima wacu, kigomba gukura.

Ubusanzwe, umwana muzima ahabwa chromosomes 23 na nyina na 23 na se. Zose hamwe ni 46. Izi zitondetse mu buryo bubiri. Ibyo bivuze ko hari kopi ebyiri za chromosome 1, kopi ebyiri za chromosome 2, n'ibindi, kugeza kuri 23.

Ese hari ubwoko bwa trisomie 18?

Yego, hari ubwoko butatu ahanini:

1. Trisomie yuzuye 18 : Iyi ni yo ndwara ikunze kugaragara cyane. Aha, buri selile mu mubiri w'umwana ifite chromosome ya 18 y'inyongera.

2. Trisomie y'igice cya 18: Ibi ni gake cyane. Aho kugira chromosome y'inyongera yuzuye, igice cya chromosome y'inyongera cya 18 ni cyo cyonyine kiba kiri mu turemangingo. Iki gice cy'inyongera gishobora kandi gushyirwa ku yindi chromosome (translocation).

3. Mosaic Trisomie 18: Iyi nayo ni indwara idasanzwe. Aha, hari uturemangingo tumwe na tumwe two mu mubiri w'umwana dufite chromosome y'inyongera. Utundi turemangingo ni ibisanzwe. Ni nk'aho uturemangingo dutandukanye tuvangwa nk'udupira twa mosaic.

Iyi ndwara ikunze kugaragara gute?

Indwara ya kabiri ikunze kugaragara cyane mu mikurire y'uturemangingo ni trisomiya 18. Iya mbere ni indwara izwi cyane ya Down syndrome , cyangwa trisomiya 21.

Dukurikije imibare, umwana umwe mu bana 5.000 bavutse ashobora kuba afite trisomie 18. Muri abo, abakunze kuvugwa cyane ni abakobwa. Ariko, mu by'ukuri, abana benshi bavutse bagerwaho n'iyi ndwara. Ariko, kubera ko ingorane zijyanye n'iyi ndwara ziba zikomeye, akenshi abo bana babura mu nda igihe batwite.

Ni ibihe bimenyetso by'umwana urwaye trisomie 18?

Abana bavukanye trisomie 18 akenshi baba ari bato cyane kandi bafite intege nke . Bashobora kugira ibibazo bikomeye by'ubuzima ndetse n'impinduka mu mubiri. Bimwe muri ibyo biravugwa mu mbonerahamwe iri hepfo.

Ni iki kibitera? Ni nde uri mu kaga?

Iki ni ikibazo ababyeyi benshi bibaza. "Ese iri ni ikosa ryanjye?"

Ariko, ibyago byo kugira ubu busembwa bwa chromosome byiyongera gato uko umubyeyi agenda akura (cyane cyane nyuma y'imyaka 35). Ariko, umubyeyi w'imyaka iyo ari yo yose ashobora kubyara umwana ufite trisomie 18.

Niba ufite umwana ufite trisomiya 18, ibyago byo kurwara iyi ndwara mu gihe utwite ubutaha biri hagati ya 0.5% na 1%. Ariko, niba wowe cyangwa umukunzi wawe mufite impinduka mu miterere y'umubiri (translocation) itera trisomiya 18, nk'uko twabivuze, ibyago bishobora kuba byinshi kurushaho. Ni ngombwa cyane kuvugana na muganga wawe kuri ibi, kandi nibiba ngombwa, ukareba umujyanama mu by'imiterere y'umubiri.

Ese ibi bishobora kugaragara mu gihe utwite?

Yego, birashoboka rwose. Muganga azabanza gufata amaraso ya nyina ( ikizamini cyo gupima ). Nubwo ibi bidashobora kwemezwa 100%, bishobora kumenya niba umwana afite ibyago byinshi byo kugira inenge ya chromosome nka trisomie 18.

Iyo iki kizamini kigaragaje ko hari ibyago, hari ibindi bizamini byemezwa.

• Gupima Viliyonike (CVS): Icyitegererezo gito cya placenta gifatwa kikapimwa mu byumweru bya mbere byo gutwita (ibyumweru 10-13).
• Amniocentesis: Nyuma y'ibyumweru 15, hafatwa icyitegererezo cy'amazi y'imyororokere akikije umwana hanyuma kigapimwa.

Ibi bizamini byombi bishobora kubara neza chromosomes z'umwana no kwemeza neza niba afite trisomie 18 cyangwa ntayo.

Byongeye kandi, gupima ultrasound nyuma y'ibyumweru 12 bishobora gutera amakenga kuri iyi ndwara urebye ibintu nk'imikurire y'umwana, imiterere y'umutima we, n'aho ingingo ze zihagaze.

Ese hari uburyo bwo kuvura? Ejo hazaza h'umwana ni he?

Iyi ni ingingo ikomeye cyane yo kuganiraho. Nta muti uraboneka wa trisomie 18. Ibi biterwa nuko ari impinduka mu ngirabuzimafatizo ziba muri buri turemangingo tw'umubiri w'umwana.

Ariko, kubura ubuvuzi ntibivuze ko nta kintu na kimwe gishobora gukorwa ku mwana. Ubuvuzi bushobora gutangwa kugira ngo umwana agire imibereho myiza kandi agire ubuzima bwiza uko bishoboka kose.

• Kubagwa ibintu bimwe na bimwe, nk'indwara z'umutima.
• Gutanga imiti ikenewe.
• Kugaburira imiyoboro iyo bigoye kunywa amata.
• Inkunga ku bibazo byo guhumeka.

Ababyeyi bamwe, aho kuvura abana babo ububabare, bahitamo kubagumana akanya gato, babigiranye urukundo n'impuhwe. Ibi byitwa kwita ku buzima busanzwe . Ibi byemezo ni iby'umuntu ku giti cye. Ni ngombwa kuganira na muganga wawe ku bwumvikane kuri ayo mahitamo yose.

Ikibabaje ni uko bitewe n’ibibazo bikomeye by’ubuzima bizanwa n’iyi ndwara, abana benshi babaho igihe gito cyane. Kimwe cya kabiri cy’abana bavutse bapfa mu cyumweru cya mbere. Abatageze kuri 10% babaho bizihiza isabukuru yabo ya mbere y’amavuko. Ndetse n’abana barokotse bakeneye ubuvuzi buhoraho.

Kwita ku mwana nk'uyu bishobora kunaniza ababyeyi mu mutwe no mu mubiri, bityo ni ngombwa kugira ubufasha kuri wowe ubwawe n'umuryango wawe muri uru rugendo.