Mwana wako ari kutambura nechirwere ichi here? Ngatikurukurei nezveEdwards Syndrome kana Trisomy 18.

Kune avo vari kutarisira kuva amai, kana kuti vari kutarisira nhengo itsva kuti ibatane nemhuri yenyu, izvi zvinganzwika sezvine musoro. Zvisinei, pane zvimwe zvinhu zvatisingade kunzwa dzimwe nguva, asi zvakakosha kuziva. Nhasi tichataura nezvechimwe chezvirwere zvakadaro. Ndiyo Edwards Syndrome, inozivikanwawo seTrisomy 18, chirwere chakakomba zvikuru chemajini.

Chii chinonzi Edwards Syndrome?

Zvichitaurwa zviri nyore, Edwards Syndrome chirwere chemajini chinokanganisa zvakanyanya kukura nekukura kwemwana . Vana vanozvarwa vane chirwere ichi vanowanzozvarwa vaine huremu hushoma. Vanewo zvikanganiso zvakasiyana-siyana zvekuzvarwa nazvo uye hunhu hwakasiyana hwemuviri. Zvakajairika kunzwa kusuruvara nekutya paunonzwa izvi. Asi ngatitaurei nezvazvo zvakadzama, zvakanaka here?

Ndiani anogona kurwara neEdwards Syndrome (Trisomy 18)?

Kutaura zvazviri, chirwere cheEdwards Syndrome (Trisomy 18) chinogona kuitika kumwana wemunhu wese . Chinoitika netsaona, zvichireva kuti hazvifungidzirwe, kana kopi yechromosome 18 yakawanikwa mumasero emwana. Zvisinei, zvakaonekwa kuti kana amai vakura, kureva kuti, kana amai vaine makore anopfuura 35 panguva yekuzvitakura, njodzi yechirwere ichi inowedzera . Asi yeuka, kana mwana mumwe aine chirwere ichi, mukana wekuti mwana anotevera ave nacho wakaderera zvikuru (pasi pe1%).

Chirwere cheEdwards Syndrome (Trisomy 18) chakajairika zvakadii?

Dambudziko iri, rinonzi Edwards Syndrome (Trisomy 18), rinowanikwa mumwana mumwe chete pavana 5,000 kusvika 6,000 vanozvarwa vari vapenyu. Zvisinei, panguva yekuzvitakura, dambudziko iri rinowanzoonekwa, richiitika mumwana mumwe chete pavana 2,500. Zvinosuwisa kuti matambudziko anokonzerwa nekuongororwa uku anowanzoita kuti mwana asabereke mudumbu (kubvisa pamuviri) kana kuti azvarwe akafa .

Chirwere cheEdwards Syndrome (Trisomy 18) chakawanikwa riini?

Dambudziko iri, rinonzi Edwards syndrome (Trisomy 18), rakatanga kuwanikwa muna 1960 naJohn Hilton Edwards nechikwata chake. Vakariwana pavaiongorora mwana achangoberekwa aive nematambudziko akasiyana-siyana ekuzvarwa nawo uye matambudziko ekukura kwepfungwa. Vakati dambudziko iri rakakonzerwa nekuwedzerwa kwekopi yechitatu yechromosome 18 (ndosaka ichinzi trisomy 18).

Ndezvipi zviratidzo zveEdwards Syndrome (Trisomy 18)?

Zviratidzo zvemwana ane chirwere cheEdwards syndrome (Trisomy 18) zvinowanzoonekwa mwana asati aberekwa uye mushure mekuzvarwa . Zviratidzo zvikuru zvinosanganisira kukura kushoma, kutadza kuberekwa zvakanaka, uye kunonoka kukura kana kusakwanisa kudzidza .

Zviratidzo zvinoonekwa panguva yekuzvitakura

Chiremba wako achatsvaga zvinhu izvi panguva yekuongorora ultrasound panguva yekuzvitakura:

• Kufamba-famba kwemwana ari mudumbu kushoma kwazvo.
• Tambo yako yerukuvhute ine tsinga imwe chete (kazhinji kacho dzinenge dziri mbiri).
• Chipfukuto chidiki kwazvo.
• Kuvapo kwezvirema zvakasiyana-siyana zvekuzvarwa nazvo.
• Mvura yakawanda yeamniotic yakakomberedza mwana inonzi "polyhydramnios".

Kunyange hazvo vamwe vacheche vane Edwards Syndrome vachiberekwa vari vapenyu, kazhinji vanobvisa pamuviri kana kufa mumwedzi mitatu yekutanga yekuzvitakura .

Zviratidzo zvinoonekwa mushure mekusununguka

Mushure mekunge mwana azvarwa, mwana ane chirwere cheEdwards syndrome (Trisomy 18) anogona kunge aine zviratidzo zvinotevera:

• Kuderera kwetsinga dzemuviri (hypotonia) - mwana anonzwa akapfava zvikuru.
• MaEarlobes akaiswa pasi pane zvakajairika.
• Nhengo dzemukati (dzakadai semwoyo nemapapu) dzinogona kusaumbwa zvakanaka kana kuti mashandiro adzo anogona kuchinja.
• Matambudziko ekukura kwepfungwa (kazhinji akanyanya kuoma ).
• Zvigunwe zvakaiswa pamusoro pezvimwe uye/kana tsoka dzakadhonzwa pamwe chete (`(makumbo echikwata)`).
• Muviri, musoro, muromo, neshaya zvidiki kwazvo.
• Kuchema kwakaderera zvikuru uye kusapindura zvakanaka kana manzwi anzwika .

Zviratidzo zvakakomba zveEdwards syndrome (Trisomy 18)

Nekuti muviri wemwana ane Edwards Syndrome (Trisomy 18) hausati wakura zvakakwana, migumisiro yechirwere ichi yakakomba zvikuru, kazhinji inoisa hupenyu panjodzi . Mimwe yacho inosanganisira:

• Chirwere chemwoyo chekuzvarwa nacho uye chirwere cheitsvo.
• Kutadza kufema zvakanaka (kutadza kufema zvakanaka).
• Matambudziko nezvirwere zvekuzvarwa nazvo mudumbu (`(Matumbu)`) uye madziro edumbu.
• Hernias (`(Hernias)`).
• Kurwara neScoliosis.

Funga izvi: Vacheche vanosvika 90% vane chirwere chemwoyo chinonzi Edwards Syndrome (Trisomy 18). Ichi ndicho chikonzero chikuru chekufa kwevana ava nguva isati yakwana, mushure mekukundikana kufema.

Chii chinokonzera Edwards Syndrome (Trisomy 18)?

Zvichitaurwa zviri nyore, chirwere cheEdwards syndrome (Trisomy 18) chinokonzerwa nekuvapo kwemakopi matatu echromosome 18 pachinzvimbo che maviri akajairika .

Zvino, tarisai, tese tine machromosomes makumi mana nematanhatu mumiviri yedu, akakamurwa kuita mapeya makumi maviri nematatu. Machromosomes aya ane DNA yedu (mirairo iyo muviri wedu unoda kuti ukure uye ushande). Tinowana seti imwe yemachromosomes aya kubva kuna amai vedu uye imwe kubva kuna baba vedu.

Kana masero aumbwa, anotanga ari masero akabatanidzwa munhengo dzekubereka (mbeu muvarume, mazai muvakadzi). Masero aya anopatsanurana (munzira inonzi ``meiosis'') uye anokopana kuti aite maviri. Sero rinobuda rine hafu yehuwandu hweDNA sesero rekutanga, kureva, makumi maviri nematatu emachromosomes makumi mana nematanhatu. Peya imwe neimwe yemachromosomes ine nhamba.

Kana ma chromosome maviri aya achifanirwa kupatsanurana panguva yekuumbwa kwemazai nembeu, dzimwe nguva ma chromosome maviri haaparadzani zvakanaka (sechinhu chinonamira), uye makopi ese ari maviri anoguma ari muzai rimwe chete kana mbeu imwe chete. Zvadaro, pakusangana kwembeu, anobatana nekopi imwe kubva kune mumwe mubereki, zvichiita makopi matatu . Kusawirirana kwemhando iyi kwema chromosome hakuna kurongeka, hakufungidzike, uye hakukonzerwi nechinhu chero chipi zvacho chakaitwa nevabereki vasati vasvika kana panguva yekuzvitakura .

Kana kopi yechitatu yechromosome painowedzerwa, inonzi trisomy. Trisomy zvinoreva chimwe chinhu chakaita se "miviri mitatu." Munhu ane Edwards Syndrome ane kopi yechitatu yechromosome 18 mumasero ake.

Chirwere cheEdwards Syndrome (Trisomy 18) chinoonekwa sei?

Kuongororwa kweEdwards Syndrome (Trisomy 18) kunowanzotanga panguva yekuzvitakura . Kuongororwa kwechirwere kunonyatsosimbiswa mwana asati aberekwa kana kuti mushure mekunge aberekwa. Chiremba wako anowanzoita ultrasound scan kuti aone zviratidzo zveEdwards Syndrome (Trisomy 18) nekutarisa kufamba kwemwana, huwandu hwemvura yeamniotic, uye saizi yeplacenta. Kana zviratidzo zvechirwere ichi zvikawanikwa, chiremba wako anokurudzira kuongororwa kwakawedzerwa kuti asimbise chirwere chacho.

Ndezvipi zviedzo zvinoshandiswa kuongorora chirwere cheEdwards Syndrome (Trisomy 18)?

Panguva yekuzvitakura, kana mwana akaratidza zviratidzo zveEdwards Syndrome (Trisomy 18), chiremba anogona kukurudzira bvunzo dzakasiyana-siyana kuti asimbise chirwere ichi, dzakadai se:

• Amniocentesis : Pakati pemavhiki gumi nemashanu kusvika makumi maviri epamuviri, chiremba wako achatora sampuli diki yemvura yeamniotic oiedza kuti aone hutano hwemwana wako.
• Kuongororwa kweChorionic villus sampling (CVS) : Pakati pemavhiki gumi kusvika gumi nematatu ekuzvitakura, chiremba wako anotora sampuli diki yemasero kubva muplacenta oaedza kuti aone kana aine majini.
• Kuongororwa : Mushure memavhiki gumi ekuzvitakura, sampuro yeropa rako inogona kuongororwa kuti ione kana mwana wako aine zvirwere zve chromosome zvakajairika, zvakaita se trisomy 18.

Kana mwana azvarwa, chiremba achaongorora moyo wemwana ne ultrasound scan, obva aona matambudziko emwoyo angave akakonzerwa nekuongororwa uku, uye otora matanho ekurapa.

Chirwere cheEdwards Syndrome (Trisomy 18) chinorapwa sei?

Kazhinji, chirwere ichi chakanyanya kuipa zvekuti vana vanozvarwa vari vapenyu vanowana rubatsiro rwakanaka.Izvi zvinoreva kubatsira mwana kuti anzwe akasununguka uye asununguke kubva pakurwadziwa. Zvisinei, kurapwa kweEdwards Syndrome (Trisomy 18) kwakasiyana kune mwana wega wega, zvichienderana nekuoma kwechirwere . Hapana mushonga weEdwards Syndrome (Trisomy 18) .

Kurapa kweEdwards syndrome (Trisomy 18) kunogona kusanganisira:

• Kurapa chirwere chemwoyo : Vacheche vanenge vese vane chirwere cheEdwards syndrome (Trisomy 18) vanobatwa nechirwere chemwoyo. Kunyange hazvo vasiri vacheche vese vanogona kuvhiyiwa, vamwe vanogona.
• Rutsigiro rwekudyisa : Vacheche vane chirwere cheEdwards syndrome (Trisomy 18) vanogona kunetseka kudya zvakanaka nekuda kwekunonoka kukura. Vangangoda kudyiswa kuburikidza nechubhu yekudyisa kuti vabatsire nematambudziko ekudyisa vachiri vadiki.
• Kurapa kwemapfupa : Vacheche vane chirwere cheEdwards syndrome (Trisomy 18) vanogona kunge vaine matambudziko emusana, akadai sescoliosis. Izvi zvinogona kukanganisa kufamba kwemwana. Kurapa kwemapfupa kunogona kusanganisira kusungirirwa kana kuvhiyiwa.
• Rutsigiro rwepfungwa nerwemagariro evanhu : Kuva nemwana ane chirwere cheEdwards Syndrome (Trisomy 18) kunoda rutsigiro kwauri, kumhuri yako, nerwemwana wako. Uchada rutsigiro kuti utsungirire kusuruvara kwekurasikirwa nemwana wako, kunyanya kana ukarasikirwa nemwana wako, kana kuti utsungirire chirwere chakaoma chemwana wako.

Ndingaderedza sei njodzi yekuti mwana wangu ave nechirwere cheEdwards Syndrome (Trisomy 18)?

Sezvo Edwards syndrome (Trisomy 18) iri mhedzisiro yekuchinja kwemajini, hapana nzira yekudzivirira chirwere ichi . Zvisinei, kana uchikodzera kuongororwa kwemajini uye kuongororwa kwe embryo (preimplantation genetic testing) ne in vitro fertilization (IVF), unogona kuderedza zvakanyanya mukana wekuva nemwana ane Edwards syndrome (Trisomy 18). Kana uchironga kuva nepamuviri, taura nachiremba wako nezvemajini ekupa mazano kuti uzive nezvenjodzi yekuva nemwana ane chirwere chemajini.

Chii chinoitika kana uine mwana ane Edwards Syndrome (Trisomy 18)?

Hapana mushonga weEdwards Syndrome (Trisomy 18). Mimba zhinji dzinoguma nekubviswa kwepamuviri kana kuberekwa kwemwana akafa . Pamiviri inorarama kusvika pachikamu chechitatu chemwedzi mitatu, vanenge 40% yevana vane Edwards Syndrome (Trisomy 18) havararami vachiberekwa, uye vanenge chikamu chimwe muzvitatu cheavo vanorarama vanoberekwa nguva isati yakwana.

Mwero wekurarama kwevana vanozvarwa neEdwards Syndrome (Trisomy 18) ndewekuti:

• Pakati pe60% ne75% vanorarama vhiki yekutanga.
• Pakati pe20% ne40% vanorarama mwedzi wekutanga.
• Vanhu vanopfuura 10% havapembereri zuva ravo rekutanga rekuzvarwa.

Vacheche vanozvarwa vaine Edwards Syndrome (Trisomy 18) vanoda kutarisirwa kwakakosha mushure mekuzvarwa, zvichienderana nezviratidzo zvavo.Mikana yekupona yakaderera zvikuru, kunyanya kana mwana akanonoka kukura kwenhengo dzemuviri kana kuti akaremara mwoyo. Pavanhu gumi muzana vanorarama zuva ravo rekutanga rekuzvarwa, vamwe vana vanorarama hupenyu hunogutsa vachitsigirwa zvikuru nemhuri dzavo nevanovachengeta. Asi kazhinji havambodzidzi kufamba kana kutaura.

Ndinofanira kuona chiremba rini?

Kana mwana ane chirwere cheEdwards syndrome (Trisomy 18) ari mudumbu, pane njodzi yekubuda pamuviri kana kurasikirwa nepamuviri. Kana uine pamuviri, enda kuna chiremba nekukasika kana uine zviratidzo zvekubuda pamuviri :

• Marwadzo emudumbu.
• Kana uchinzwa dzihwa uye uine fivha.
• Kurwadziwa kwemusana.
• Kana uchibuda ropa rakawanda kupfuura zvakajairika (kubuda ropa rakawanda).
• Kurwadziwa kwedumbu repazasi.

Ndinofanira kuenda kuchipatara riini?

Kana mwana wako akazvarwa aine Edwards Syndrome (Trisomy 18) aine chimwe chezviratidzo izvi, muendesei kuchipatara nekukasika, kana kufonera 1990 :

• Kana uri kufema nekukurumidza kana kuti zvishoma nezvishoma, kana kuti usingafemere zvachose.
• Kana ganda kana miromo zvikashanduka kuita bhuruu kana pepuru.
• Kana kurova kwemoyo kuchikurumidza zvikuru.
• Kana zvakaoma kudya.
• Kana muviri wese wakazvimba.

Mibvunzo ipi yandinofanira kubvunza chiremba wangu?

Mumamiriro ezvinhu akadai, ungave nemibvunzo yakawanda. Bvunza chiremba wako nezvezvinhu zvakaita se:

• "Ndezvipi njodzi dzangu dzekuva nemwana ane chirwere chemajini?"
• "Ndeapi marapirwo angapihwa ezviratidzo zvemwana wangu?"
• "Ndingaitei kuti ndive nechokwadi chekuti mwana wangu ane hutano panguva yekuzvitakura?"

Kuongororwa kweEdwards Syndrome (Trisomy 18) kunogona kuva kwakaoma zvikuru. Matambudziko anouya nechirwere ichi anogona kukuremera. Chiremba wako achakubatsira iwe nemhuri yako murwendo urwu , kungave kuri kubata nekuongororwa kwemwana wako kana kutsungirira kurasikirwa nemwana wako. Kana uchironga kubata pamuviri, taura nachiremba wako nezvemazano ezvemajini kuti uzive nezvenjodzi yako yekuva nemwana ane chirwere chemajini.

Zvinhu zvakakosha zvekurangarira (Mharidzo Yekuenda Kumba)

Zvakanaka, saka, regai ndipfupise zvimwe zvezvinhu zvatataura nezvazvo zvandinofunga kuti zvichave zvakakosha kwauri:

• Edwards Syndrome, kana kuti Trisomy 18, chirwere chakakomba chemajini .
• Izvi zvinokonzerwa nekopi yekuwedzera yechromosome 18. Izvi zvinoitika netsaona, kwete mhosva yevabereki.
• Izvi zvinogona kuonekwa kuburikidza nekuskena uye dzimwe bvunzo dzakagadzirwa (`(Amniocentesis)`, `(CVS)`) dzinoitwa panguva yekuzvitakura.
• Hapana mushonga wechirwere ichi, kurapwa kwakanangana nekudzora zviratidzo uye kuita kuti mwana anzwe akasununguka.
• Vacheche vazhinji havararame kwenguva refu , asi vamwe vana vanorarama nerudo nerutsigiro rwemhuri dzavo.
• Kana uine pamuviri uyeKana uri kuratidza zviratidzo zvekubuda kwepamuviri, tsvaga rubatsiro rwechiremba nekukasika.
• Kana wakamboonekwa uine chirwere ichi, hausi wega . Tsvaga rubatsiro kubva kuna vanachiremba, mhuri, uye kune vanopa mazano.

Ndinovimba ruzivo urwu ruchakubatsira. Zvakaoma kutaura nezvenyaya dzakadaro dzinonetsa, asi zvakakosha kuziva.

Edwards Syndrome, Trisomy 18, Zvirwere zveMajini, Machromosome, Pamuviri, Hutano hweMwana, Zvirwere zveKuberekwa