Kuvamile ukuzizwa ukwesaba okukhulu nokukhathazeka uma uzwa igama ongalijwayele njengelithi "Trisomy 18" lapho ukhuluma nodokotela wakho ngomntwana wakho ongakazalwa. Luhlobo luni lwesimo lolu, kungani lokhu kwenzeka, futhi kukhona yini okungalungile engikucabangayo? Ungakhathazeki. Namuhla, ake siqonde isimo esibizwa ngokuthi iTrisomy 18 kalula, njengokungathi sikhuluma nomngane.
Iyini ngempela i-Trisomy 18?
Kalula nje, i-trisomy 18 yisimo esibangelwa inkinga ngama-chromosome aphethe ulwazi lwezakhi zofuzo emizimbeni yethu. Elinye igama lalokhu yi- Edwards syndrome , ukuhlonipha udokotela owachaza lesi simo okokuqala.
Cabanga ngemizimba yethu njengesakhiwo esikhulu. Uhlaka lwalesi sakhiwo luqukethwe ezintweni ezifana nezincwadi ezibizwa ngokuthi ama-chromosome. Izakhi zofuzo ezikulezi zincwadi ziyimiyalelo yokuthi yonke ingxenye yomzimba wethu, kusukela embala wezinwele zethu kuya endleleni inhliziyo yethu esebenza ngayo, kufanele ikhule.
Ngokuvamile, ingane enempilo ithola ama-chromosome angu-23 kumama kanye nangu-23 kuyise. Inani eliphelele lingu-46. Lawa ahlelwe ngamabili. Lokho kusho ukuthi kunamakhophi amabili e-chromosome 1, amakhophi amabili e-chromosome 2, njalo njalo, afinyelela ku-23.
Kodwa-ke, endabeni ye-trisomy 18, esikhundleni samakhophi amabili ajwayelekile e-chromosome 18, kukhona ikhophi eyengeziwe, okungukuthi, amakhophi amathathu, emaseli engane. Igama elithi "Tri" lisho amathathu. Yingakho libizwa ngokuthi "i-trisomy 18." Le chromosome eyengeziwe ingabangela ukukhubazeka okuhlukahlukene ekukhuleni kwezitho eziningi emzimbeni wengane.
Ingabe zikhona izinhlobo ze-trisomy 18?
Yebo, kunezinhlobo ezintathu ikakhulukazi:
1. I-Full Trisomy 18 : Lolu uhlobo oluvame kakhulu. Lapha, wonke amaseli emzimbeni womntwana ane-chromosome eyengeziwe ye-18.
2. I-Partial Trisomy 18: Lokhu akuvamile kakhulu. Esikhundleni se-chromosome ephelele eyengeziwe, ingxenye kuphela ye-chromosome eyengeziwe 18 ekhona emaseli. Le ngxenye eyengeziwe ingase futhi ixhunywe kwenye i-chromosome (translocation).
3. I-Mosaic Trisomy 18: Lesi futhi yisimo esingavamile. Lapha, amanye amangqamuzana emzimbeni womntwana kuphela ane-chromosome eyengeziwe. Amanye amangqamuzana ajwayelekile. Kufana namaseli ahlukene axutshwe ndawonye njengamathayela e-mosaic.
Sivame kangakanani lesi simo?
Isifo sesibili esivame kakhulu se-chromosome yi-trisomy 18. Esokuqala yi- Down syndrome eyaziwa kakhulu, noma i-trisomy 21.
Ngokwezibalo, cishe ingane eyodwa kwezingu-5,000 ezizalwayo ingaba ne-trisomy 18. Kulaba, okubikwa kakhulu ngamantombazane. Kodwa-ke, empeleni, izingane eziningi ezisanda kuzalwa zithinteka yilesi simo. Kodwa-ke, ngenxa yokuthi izinkinga ezihlobene nalesi simo zinzima, isikhathi esiningi lezo zingane zilahleka esibelethweni ngesikhathi sokukhulelwa.
Ziyini izimpawu zomntwana one-trisomy 18?
Izingane ezizalwa zine-trisomy 18 zivame ukuba zincane kakhulu futhi zibuthakathaka . Zingaba nezinkinga eziningi zempilo ezinkulu kanye nezinguquko zomzimba. Ezinye zazo zibalwe kuthebula elingezansi.
| Ingxenye yomzimba | Izimpawu ezibonakalayo |
|---|---|
| Ikhanda nobuso | Ikhanda elincane kunelivamile (i-microcephaly), umhlathi omncane (i-micrognathia), izindlebe eziphansi, kanye nolwanga oluqhekekile. |
| Izandla nezinyawo | Izandla ezihlanganisiwe (iminwe igoqwe phezu komunye nomunye), izinyawo ezibushelelezi kakhulu. |
| Inhliziyo | Izimbobo eziphakathi kwamakamelo enhliziyo (i-atrial septal defect noma i-ventricular septal defect). |
| Ezinye izitho zomzimba | Ukukhubazeka kwamaphaphu, kwezinso, kanye nesisu/amathumbu. |
| Isimo esijwayelekile | Ukukhula kuhamba kancane kakhulu.(ukukhula okuhamba kancane), ubunzima bokudla, ukukhala okubuthakathaka, kanye nokubambezeleka okukhulu kwengqondo nokukhula. |
Yini ebangela lokhu? Ubani osengozini?
Lona umbuzo abazali abaningi abawubuzayo. "Ingabe leli yiphutha lami?"
Sicela uqonde ukuthi i-trisomy 18 ayibangelwa yinoma yiliphi iphutha likamama noma likababa, noma ukudla, isiphuzo, noma ukuziphatha. Kuyiphutha lokuhlukaniswa kwama-chromosome elingahleliwe elenzeka lapho kwakheka iqanda noma isidoda. Akukho esingakwenza ukukuvimbela.
Kodwa-ke, ingozi yalezi ziphambeko ze-chromosome iyanda kancane njengoba umama ekhula (ikakhulukazi ngemva kweminyaka engu-35). Kodwa-ke, umama wanoma yimuphi ubudala angaba nengane ene-trisomy 18.
Uma usuvele unengane ene-trisomy 18, ingozi yokuba nalesi simo ekukhulelweni kwakho okulandelayo iphakathi kuka-0.5% no-1%. Kodwa-ke, uma wena noma umlingani wakho ninoshintsho lwezakhi zofuzo (ukudluliselwa kwezakhi zofuzo) olubangela i-trisomy engaphelele 18, esikhulume ngayo, ingozi ingaba phezulu nakakhulu. Kubaluleke kakhulu ukukhuluma nodokotela wakho ngalokhu futhi, uma kudingeka, ubone umeluleki wezakhi zofuzo.
Ingabe lokhu kungatholakala ngesikhathi sokukhulelwa?
Yebo, kungenzeka nakanjani. Udokotela uzoqala ngokuthatha isampula yegazi kumama ( ukuhlolwa kokuhlolwa ). Nakuba lokhu kungenakuqinisekwa ngokuphelele, kungasho ukuthi ingane isengozini enkulu yokuba nesici se-chromosome njenge-trisomy 18.
Uma lokhu kuhlolwa kukhombisa ukuthi kukhona ingozi, kunezinye izivivinyo zokuqinisekisa isimo.
- Ukusampula Kwe-Chorionic Villus (CVS): Kuthathwa isampula encane ye-placenta futhi ihlolwe emasontweni okuqala okukhulelwa (amasonto 10-13).
- I-Amniocentesis: Ngemva kwamasonto angu-15, kuthathwa isampula yoketshezi lwe-amniotic oluzungeze umntwana bese luhlolwa.
Zombili lezi zivivinyo zingabala ngokunembile ama-chromosome engane futhi ziqinisekise ngokuqiniseka ukuthi zine-trisomy 18 noma cha.
Ngaphezu kwalokho, ukuhlolwa kwe-ultrasound okwenziwa ngemva kwamasonto ayi-12 kungavusa izinsolo ngalesi simo ngokubheka izinto ezifana nokukhula komntwana, ukuma kwenhliziyo, kanye nendawo yezitho zakhe.
Ingabe ikhona indlela yokwelapha? Liyini ikusasa lomntwana?
Lesi yisihloko esibucayi kakhulu okufanele sixoxwe ngaso. Okwamanje alikho ikhambi le-trisomy 18. Lokhu kungenxa yokuthi lushintsho lwezakhi zofuzo olukhona kuwo wonke amaseli omzimba womntwana.
Kodwa-ke, ukuntuleka kokwelashwa akusho ukuthi akukho lutho olungenziwa ngengane. Ukunakekelwa kokusekela kunganikezwa ukuqinisekisa ukuthi ingane ikhululekile futhi iphilile ngangokunokwenzeka.
- Ukuhlinzwa kwezinto ezithile, njengokukhubazeka kwenhliziyo.
- Ukuhlinzeka ngemithi edingekayo.
- Amapayipi okuphakela uma kunzima ukuphuza ubisi.
- Ukusekela ubunzima bokuphefumula.
Abanye abazali, esikhundleni sokwelapha izingane zabo ngobuhlungu, bakhetha ukuzigcina zikhululekile isikhashana, ngothando nothando. Lokhu kubizwa ngokuthi ukunakekelwa kwenduduzo . Lezi zinqumo zingezomuntu siqu kakhulu. Kubalulekile ukukhuluma ngokukhululekile ngazo zonke lezi zinketho nodokotela wakho.
Ngeshwa, ngenxa yezinkinga ezinkulu zempilo ezihambisana nalesi simo, izingane eziningi ziphila isikhathi esifushane kakhulu. Cishe ingxenye yazo zonke izingane ezizalwayo ziyafa phakathi nesonto lokuqala. Ngaphansi kuka-10% ziphila ukuze zigubhe usuku lwazo lokuzalwa lokuqala. Ngisho nalezo zingane ezisindayo zidinga ukunakekelwa kwezokwelapha njalo.
Ukunakekela ingane enjengale kungabakhathaza abazali ngokwengqondo nangokomzimba, ngakho-ke kubalulekile ukuba nokusekelwa wena nomndeni wakho kulolu hambo.
Umlayezo Wokuya Nawe Ekhaya
- I-Trisomy 18 yisimo sofuzo esibangelwa ukuba nekhophi eyengeziwe yenombolo ye-chromosome 18.
- Lokhu akubangelwa yiphutha labazali. Kuyiphutha elivela ku-genetic elingavamile.
- Lesi simo singatholakala ngokusebenzisa ama-scan kanye nokuhlolwa kwegazi okukhethekile ngesikhathi sokukhulelwa.
- Nakuba kungekho ikhambi eliqondile lalesi simo, kunezindlela zokunakekela ezisekelayo ezinganikeza impumuzo enganeni.
- Kubaluleke kakhulu kubazali ababhekene nalesi simo ukufuna usizo lwengqondo kodokotela, abeluleki, nakwamanye amalungu omndeni. Khuluma ngokukhululekile nodokotela wakho nganoma yini.
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