Wifuza kumenya ubuzima bw'umwana wawe mbere y'igihe? Reka tuvuge ku isuzuma ry'uturemangingo mbere yo kubyara!

Iyo utegereje kuba umubyeyi, icyifuzo cyawe gikomeye ni ukugira umwana muzima, sibyo? Uyu munsi rero tugiye kuvuga ku buryo bwihariye bwo gupima bugufasha kumenya mbere y'igihe niba umwana afite ibibazo by'uturemangingo cyangwa ibitagenda neza mu gihe akiri mu nda. Ibyo tubyita `(Gupima Genetic Prenatal)`. Ibi bizamini si ikintu buri wese agomba gukora, ariko ni ingenzi cyane ko ubimenya.

Iki ni iki (Ikizamini cy'Ubwiyongere bw'Umubiri w'Umwana Utaravuka)?

Muri make, ibi ni ibizamini bishobora kumenya niba umwana wawe utaravuka afite indwara cyangwa ubusembwa bw'uturemangingo. Bitandukanye n'ibipimo by'ubwoko bw'amaraso, hemoglobine, n'isukari usanzwe ukorerwa mu gihe utwite, ibi bizamini by'uturemangingo ntabwo ari ngombwa kandi bishobora gukorwa gusa iyo ubyifuje . Ushobora kuvugana na muganga wawe kuri ibi hanyuma ugahitamo ibizamini bikubereye.

Ibintu byose biri mu mubiri wacu bigenzurwa na za gene zacu. Izi gene zibikwa mu bintu byitwa chromosomes. Rero, rimwe na rimwe, iyo habayeho impinduka cyangwa inenge muri izi gene cyangwa chromosomes, indwara zitandukanye zishobora kubaho. Ibyo bintu twita "(Indwara zo mu nda)". Ibi bizamini bya gene bishobora kugaragaza zimwe muri izo ndwara mbere yuko umwana avuka.

Ubwo bwoko bubiri bw'ibizamini ni ubuhe? (Gusuzuma no gusuzuma indwara)

Noneho reka turebe. Hari ubwoko bubiri bw'ingenzi bw'"Isuzuma ry'uturemangingo mbere yo kubyara".

1. Ibipimo byo gusuzuma: Ibi bikoreshwa mu kumenya niba umwana wawe afite ibyago byo kurwara indwara runaka. Ibi ntibivuze ko umwana afite iyo ndwara. Ariko, niba ibyago ari byinshi, muganga wawe azakubwira icyo ugomba gukora nyuma yaho.

2. Ibizamini byo gusuzuma: Ibi bizamini bishobora kwemeza niba umwana afite indwara ya genetiki cyangwa adafite. Ibi bikunze gukorwa gusa iyo ikizamini cyo gusuzuma kigaragaje ibyago, cyangwa niba hari ibyago byinshi ku yindi mpamvu.

Noneho reka tuvuge kuri buri bwoko muri ubu buryo mu buryo burambuye.

Reka tubanze turebe 'Ibipimo byo Gupima' (ibipimo bireba ibyago byo kubyara)

Ikintu cy'ingenzi cyo kwibuka ni uko ibi bizamini byo gusuzuma bitavuga neza ko hari indwara y’uturemangingo. Nubwo ibisubizo byaba bidasanzwe, ntibivuze ko umwana azarwara iyo ndwara nta kabuza. Bisobanura gusa ko hari ibyago runaka ugereranyije n'ibindi. Muganga wawe ashobora kugusobanurira ibi bisubizo no kugusobanurira intambwe ugomba gutera nyuma yaho. Hari igihe bashobora no kukugira inama yo gupima indwara.

Hari ubwoko butandukanye bw'ibizamini byo gusuzuma:

1. Gupima umwana urwaye indwara - Ese ufite indwara ishobora kwanduza umwana wawe?

Iki ni ikizamini cy'amaraso wowe n'umukunzi wawe mushobora gukora. Gishaka indwara za gene imwe zishobora gutera indwara zikomeye umwana wawe ashobora kurwara. Urugero, gishobora kumenya indwara nka Cystic Fibrosis, Sickle Cell Disease, na Spinal Muscular Atrophy.

Urugero, niba ikizamini cy'amaraso cyawe cyerekanye ko uri umuntu ufite ibyago bimwe byo kwandura indwara ya genetiki, ni ngombwa cyane ko n'uwo mwashakanye nawe apimwa. Kuko, niba ababyeyi bombi bafite ibyago bimwe byo kwandura indwara ya genetiki, umwana ashobora kurwara indwara ikomeye. Iki kizamini cya "Clearing Screening" gikorwa rimwe gusa mu buzima bwe bwose.

2. Gusuzuma umubare udasanzwe wa chromosome

Nkuko twabivuze, tuzungura chromosomes mu buryo bubiri - imwe iva kuri mama wacu n'indi iva kuri data. Hari igihe, muri iki gikorwa cyo gusama, amakosa karemano ashobora kubaho. Hanyuma ibice by'akaremangingo bishobora kubura cyangwa kongerwamo. Urugero, ``Down Syndrome`` (kuba hari chromosome 21 y'inyongera) na ``Turner's Syndrome`` (kuba hari chromosome X ibura). Ibisubizo by'ibi bizamini bishobora gutandukana bitewe n'inda.

Hari ubwoko butandukanye bw'ibizamini:

• Gupima ADN y'umwana ukiri mu nda nta turemangingo: Ibi kandi byitwa `(Gupima mbere yo kubyara bitarimo abarwayi)` cyangwa `(NIPT)`. Ibi bikubiyemo gufata uduce duto twa ADN y'umwana wawe (`ADN y'umwana ukiri mu nda`) mu maraso yawe no gushaka ibisanzwe bya chromosomes. Ariko, kubera ko ingano ya ADN y'uyu mwana ari nto cyane, iki kizamini gishobora gukorwa gusa nyuma y'ibyumweru 10 atwite.
• Gupima amaraso mu maraso: Iki ni ikizamini gifata icyitegererezo cy'amaraso yawe. Ariko, ntikireba ADN y'umwana mu buryo butaziguye. Ahubwo, gisesengura ingano ya poroteyine zitandukanye mu maraso yawe kugira ngo hamenyekane ibyago byo kugira ibibazo bya chromosomes. Ingero zabyo zirimo `(Gupima urwego rw'itsinda)`, `(Gupima inshuro enye)` na `(Gupima amaraso mu gihembwe cya mbere cy'itsinda)`. Buri kizamini muri ibi bigomba gukorwa mu gihe runaka mu gihe cyo gutwita, bityo ni byiza kubaza muganga wawe ikikubereye. Ibi bizamini ubusanzwe bishobora gukorwa nyuma y'ibyumweru 11 utwite.

3. Gusuzuma indwara z'umubiri

Hari igihe, ubusembwa bw'uturemangingo tw'umubiri bushobora gutera impinduka mu miterere y'umubiri w'umwana. Cyangwa, nubwo uturemangingo tw'umubiri tuba dusanzwe, umwana ashobora kugira ubusembwa bw'umubiri. Ibizamini bya Ultrasound n'amaraso bikorerwa mu gihe atwite bishobora gutanga igitekerezo cy'ibyago by'umwana byo kugira ubwo busembwa bw'umubiri ndetse niba biterwa n'impamvu za genetiki.

• Nuchal Translucency (NT scan):Iki kizamini cya ultrasound gipima ubunini bw'uruhu ruri inyuma y'ijosi ry'umwana uri mu nda. Iyo ubu bunini bukabije, bishobora kugaragaza ibyago byo kutagira imiterere myiza ya chromosomes, ndetse n'ibibazo by'umubiri nko gukura kudasanzwe k'umutima w'umwana. Iki kizamini cya ultrasound gikorwa hagati y'ibyumweru 11 na 14 by'inda.
• Gupima AFP (gupima amaraso y'umubyeyi): Hafatwa icyitegererezo cy'amaraso yawe hanyuma hagapimwa urugero rwa poroteyine yitwa AFP (Alpha-fetoprotein). Iyo uru rugero ruri hejuru cyane, bishobora kugaragaza ko hashobora kuba hari ibibazo bimwe na bimwe mu nda y'umwana, mu maso, cyangwa mu mugongo. Ibi bikorwa hagati y'ibyumweru 15 na 22.
• Gupima inshuro enye: Ibi bipima urugero rw'ibintu bine mu maraso yawe kugira ngo hamenyekane ibyago byo kuba umwana wawe yagira ibibazo bya chromosomes na nervous tube defects. Ibi kandi byitwa "Multiple Marker Screen". Ibi kandi bikorwa hagati y'ibyumweru 15 na 22.
• Gupima imiterere y'umwana uri mu nda: Ibi nibyo abantu benshi bazi nka "Anomaly Scan". Muri ibi, ultrasound ikoreshwa mu gusuzuma imiterere y'umubiri w'umwana, harimo ubwonko bukura, amagufwa, umutima, impyiko, inda, isura n'amaguru. Ubusanzwe iyi ultrasound ikorwa hagati y'ibyumweru 18 na 20 byo gutwita.

Icy'ingenzi: Na none, ibi bizamini byo gusuzuma bigaragaza gusa ko indwara ishobora kuba . Ntabwo bigaragaza neza ko hari indwara.

"Ibipimo byo gusuzuma indwara" ni iki? (Ibipimo byo kumenya neza niba hari indwara)

Ibizamini byo gusuzuma indwara bishobora kwemeza niba umwana afite ikibazo cy’uturemangingo. Ibi bizamini bikorwa gusa iyo ibisubizo by’ikizamini cyo gusuzuma bitameze neza, cyangwa niba ufite izindi mpamvu zituma utekereza ko umwana wawe afite ibyago byinshi byo kurwara indwara y’uturemangingo (urugero, hari umuntu wo mu muryango wawe ufite icyo kibazo).

Ubwoko bubiri busanzwe bw'ibipimo byo gusuzuma indwara ni `(Amniocentesis)` na `(Chorionic Villus Sampling / CVS)`.

• Amniocentesis: Muri iki kizamini, muganga ashyira urushinge ruto mu ruhu rwawe mu mura wawe maze agafata urugero ruto rw'amazi y'imyororokere akikije umwana wawe. Iki kizamini gikorwa hagati y'ibyumweru 16 na 20 byo gutwita.
• Gupima Viliyonike (CVS): Muri iki kizamini, muganga ashyira urushinge mu mura agafata ingero nto z'uturemangingo two mu mura. Muganga ni we uzafata icyemezo cyo gushyira urushinge mu nda cyangwa mu gitsina, bitewe n'uko ari rwo rwiza. Ikizamini cya CVS gikorwa hagati y'ibyumweru 11 na 13 by'inda.

Hanyuma ingero zoherezwa muri laboratwari kugira ngo zisesengurwe. Laboratwari ishobora gukora ibizamini byihariye nka Fluorescence In Situ Hybridization (FISH), Karyotyping isanzwe, na Microarray. Ibizamini bimwe na bimwe byo gusuzuma indwara bishobora gutanga ibisubizo mu masaha 72 gusa, mu gihe ibindi bishobora kumara ibyumweru birenga bibiri.

Ese ibi bizamini by’uturemangingo bigomba gukorwa? Ni nde ukwiye kubikora?

Gusuzuma imiterere y'umubiri mbere yo kubyara cyangwa kutabikora ni icyemezo cyawe bwite. Niba utabizi neza, ushobora kubaza muganga wawe icyo agusaba. Ibisubizo by'ibi bizamini bishobora gutanga amakuru y'ingenzi cyane ku buzima bw'umwana. Ubusanzwe, abagore bose batwite bamenyeshwa ibi bizamini byo gusuzuma imiterere y'umubiri nk'igice cy'ubuvuzi bwabo bwo kubyara.

Impamvu zimwe na zimwe zituma imiryango imwe n'imwe ifata icyemezo cyo gupima indwara ni izi zikurikira:

• Kubona igisubizo kidasanzwe cyavuye mu isuzuma ryakozwe.
• Kugira amateka y'umuryango w'umuntu ufite indwara y'uturemangingo.
• Gutwita urengeje imyaka 35.
• Kuba yarakuyemo inda mbere cyangwa yarabyaye umwana wapfuye.

Ese ni ngombwa gukora ibi bipimo mu gihe utwite?

Oya, ntabwo ari ngombwa. Ni icyemezo gishingiye ku myizerere yawe bwite n'amateka y'ubuvuzi bwawe. Hari ababyeyi bakunda kumenya mbere y'igihe niba umwana wabo azavuka afite ikibazo runaka. Ibi bituma bashobora guteganya uburyo umwana wabo azarerwa mbere y'igihe. Ikibabaje ni uko hari imiryango ishobora kugira ingaruka zibabaje cyane, bityo ikaba igomba gufata icyemezo kitoroshye cyo gukomeza gutwita. Rero, niba ugomba gupimwa cyangwa kutazakorerwa iki kizamini cyo gusuzuma indwara, ni ibyawe n'umuganga wawe.

Ibi bizamini bikorwa bite?

Ibipimo byinshi bya `(Gupima imiterere y'uturemangingo mbere yo kubyara)` bikorerwa ku gipimo cy'amaraso y'umubyeyi utwite. Niba ibisubizo by'ibipimo byagaragaje ko hari ibyago byinshi byo kuvukana inenge, muganga ashobora gukora ibizamini byimbitse (``ibizamini biva mu mubiri``) kugira ngo amenye indwara runaka. Ibi bizamini byimbitse byo gusuzuma ni ``(Amniocentesis)`` na ``(CVS)```.

Ni ibihe bipimo bikorwa mu byumweru bitandukanye byo gutwita?

Iki kandi ni ikibazo ku bantu benshi.

Ibizamini bya mbere by'igihembwe cya mbere (mu mezi 3 ya mbere)

Gupima amaraso mu gihembwe cya mbere cy'amezi atatu, gusuzuma ADN y'umwana ukiri mu nda (NIPT), na ultrasound ya NT byose bikorwa hagati y'ibyumweru 11 na 14 byo gutwita. Ukoresheje amakuru ava muri ibi bipimo by'amaraso na ultrasound, ushobora kubona igitekerezo cy'ibyago byo kurwara indwara zisanzwe za chromosomes nka Down Syndrome.

"Gupima abafata amaraso" bishobora gukorwa igihe icyo ari cyo cyose mu gihe utwite, ndetse no mu byumweru 6-10. Ibi bizamini bireba indwara za "gene imwe" ushobora kwanduza umwana wawe. Ariko, "Gupima abafata amaraso" ntibishobora kugaragaza indwara ziterwa n'ubusembwa bwa chromosome, nka "Down Syndrome".

Gupima ADN y'umwana ukiri mu nda (NIPT) bipima ADN y'umwana mu maraso yawe. Bisuzuma indwara za chromosome nka Down Syndrome, Trisomy 13, na Trisomy 18. Iki kizamini gishobora gukorwa mu byumweru 10 byo gutwita, cyangwa nyuma yaho mu gihe cyo gutwita.

Ibizamini bya kabiri (hagati y'amezi 4-6)

Ibizamini byo gusuzuma mu gihembwe cya kabiri cy'amezi atatu bikorwa hagati y'ibyumweru 15 na 22 by'inda. Ibizamini by'amaraso bikorwa muri iki gihe ni `(Maternal Serum Alpha-Fetoprotein / AFP screen)` na `(Quad screen)`. `(Quad screen)` byitwa kuko bipima ubwoko bune bwa poroteyine (`Alpha-fetoprotein / AFP`, `Estriol`, `Human Chorionic Gonadotropin / hCG` na `Inhibin-A`). Ibi bizamini bifasha muganga wawe kumenya niba umwana wawe afite ibyago byinshi byo kugira ibibazo by'uturemangingo cyangwa imiterere y'umubiri. `(Fetal anatomy ultrasound)` (Anomaly scan) ni ubundi buryo bwo gusuzuma bushobora kureba ibibazo by'uturemangingo cyangwa imiterere y'umubiri ku mwana wawe.

Ese ibi bizamini byo 'gusuzuma' indwara nka Down Syndrome bishobora kuba ari amakosa?

Yego, hari amahirwe ko ikizamini cyo gupimwa cyaba atari cyo. Ni ukuvuga ko hari igihe gishobora kubaho nubwo cyavuga ko nta ngaruka, kandi hari igihe gishobora kubaho nubwo cyavuga ko nta ngaruka (ibi byitwa 'false positive' na 'false negative'). Muganga wawe ashobora gusobanura igipimo cy'ukuri (`accuracy rates`) cy'ikizamini icyo ari cyo cyose cyo gupimwa wakoze mu gihe utwite.

Ese hari ingaruka zishobora guterwa n'ibi bizamini?

Gupima (gufata ikizamini cy'amaraso) ntibifatwa nk'ibintu biteje akaga. Ariko, niba ugiye gupima nka ``Amniocentesis`` cyangwa ``CVS```, hari ibyago bike cyane . Ibyo byago ni ukwandura, kuva amaraso, cyangwa gukuramo inda. Niyo mpamvu ibi bizamini bitakorerwa buri wese muri rusange ``Gupima Genetique`` mbere yo kubyara, ahubwo bikorerwa gusa abantu bakeka cyane.

Bifata igihe kingana iki kugira ngo ibisubizo bigaruke? Ibisubizo bivuze iki?

Ibizamini byo gusuzuma bifata iminsi mike kugira ngo bibone ibisubizo. Ibizamini byo gusuzuma bishobora gufata iminsi mike kugeza ku byumweru bike kugira ngo bibone ibisubizo. Akenshi, ibi bipimo byoherezwa muri laboratwari kugira ngo bipimwe. Muganga wawe azabanza kubona ibisubizo, hanyuma akakubwira ibisubizo.

Ibisubizo by'ibizamini byo gupima bigaragaza gusa ibyago. Ntabwo bikwereka neza niba umwana afite ikibazo cy'uturemangingo.

• Iyo habonetse igisubizo cyiza , bivuze ko umwana ari mu kaga ko kurwara iyo ndwara kurusha abaturage muri rusange.
• Iyo habonetse igisubizo kibi , bivuze ko umwana afite ibyago bike byo kurwara iyo ndwara ugereranyije n'abaturage muri rusange.

Muganga wawe ashobora kukugira inama yo gupima indwara, nka CVS cyangwa amniocentesis. Cyangwa, bashobora kukwohereza ku mujyanama w’uturemangingo, wihariye mu gutwita mu buryo bukomeye no mu ndwara z’uturemangingo. Ntutinye kuvugana n’abaganga bawe ku byo ibisubizo by’ibizamini byawe bivuze ndetse n’ingaruka n’inyungu zo gupima indwara.

Ese igitsina cy'umwana gishobora kumenyekana binyuze muri ibi bizamini?

Uretse gutanga amakuru ku bijyanye n'ingaruka zo kurwara indwara za genetiki, ikizamini cya ""Cell-free ADN screening / NIPT"" gishobora no gutanga amakuru ku gitsina cy'umwana. "Ultrasound" rimwe na rimwe ishobora no kumenya igitsina. Ariko, iyi ni inyungu y'inyongera gusa, ntabwo ari yo mpamvu nyamukuru yo gupima.

Ni iki nabaza muganga kuri ibi bizamini by’uturemangingo?

Gupima no gusuzuma indwara mu gihe utwite ni ibyemezo by'umuntu ku giti cye. Ushobora kuba ufite ibibazo ku bijyanye n'ibizamini byo gusuzuma ugomba gukora cyangwa icyo ibisubizo by'ibizamini byawe bivuze. Ntutinye kubaza ibibazo. Wibuke ko wowe n'umuryango wawe ari mwe mwenyine mushobora guhitamo uburyo bwo guhangana n'ibisubizo byiza bivuye mu bwoko bwombi bw'ibizamini by'uturemangingo.

Ibibazo bimwe na bimwe ushobora kwibaza:

• "Ni ibihe bipimo byo gupimwa wangiriye inama ukurikije amateka y'ubuzima bwanjye?"
• "Niba ibisubizo by'ikizamini cyanjye ari `Positive`, ni izihe ntambwe zikurikiraho?"
• "Ese ibi bipimo by'uturemangingo bishobora kugira ingaruka ku mwana?"
• "Ni ayahe mahirwe yo kugira ibimenyetso bitari byo?"

Amaherezo, ibintu ugomba kwibuka (Ubutumwa bwo kujyana mu rugo)

Nta gisubizo cyiza cyangwa kibi ku isuzuma ry’uturemangingo mbere yo kubyara. Icyemezo ni icyawe n’umuryango wawe. Niba ufite impungenge kuri ibi bizamini, cyangwa niba ushaka gusobanukirwa icyo buri kizamini kizareba, vugana na muganga wawe. Ashobora kukuganiriza ingaruka n’ibyiza bya buri kizamini cy’uturemangingo kandi akagufasha gufata icyemezo cyiza kuri wowe n’umuryango wawe.

Wibuke ko abana benshi bavuka ari bazima. Ariko, ni ngombwa gusobanukirwa amahitamo yawe n'ibipimo by'uturemangingo biboneka kuri wewe. Muganga wawe ni we muyobozi wawe mwiza muri uru rugendo.

Gutwita , gupima imiterere y'umubiri, ubuzima bw'umwana, gupima umwana uri mu nda, gupima, gupima indwara, Down syndrome, ultrasound