Kuqhelekile ukuba uzive uloyiko olukhulu kunye nexhala xa usiva igama elingaziwayo elifana nelithi "Trisomy 18" xa uthetha nogqirha wakho ngomntwana wakho ongekazalwa. Luhlobo luni lwesimo esi, kutheni oku kwenzeka, kwaye kukho into engalunganga endiyicingayo? Ungakhathazeki. Namhlanje, masiqonde imeko ebizwa ngokuba yiTrisomy 18 ngokulula, ngokungathi sithetha nomhlobo.
Yintoni kanye kanye iTrisomy 18?
Ngamafutshane, i-trisomy 18 yimeko ebangelwa yingxaki yee-chromosomes ezithwala ulwazi lwezakhi zofuzo emizimbeni yethu. Elinye igama lale nto yi -Edwards syndrome , ukuhlonela ugqirha owaqala ukuchaza le meko.
Cinga ngemizimba yethu njengesakhiwo esikhulu. Isicwangciso sale sakhiwo sifumaneka kwizinto ezifana neencwadi ezibizwa ngokuba zii-chromosomes. Iijini ezingaphakathi kwezi ncwadi ziyimiyalelo yendlela ekufuneka iphuhlise ngayo yonke inxalenye yomzimba wethu, ukususela kumbala weenwele zethu ukuya kwindlela esebenza ngayo intliziyo yethu.
Ngokwesiqhelo, umntwana ophilileyo ufumana iichromosome ezingama-23 kumama kunye nezingama-23 kutata. Zizonke zingama-46. Ezi zihlelwe ngababini. Oko kuthetha ukuba kukho iikopi ezimbini zechromosome 1, iikopi ezimbini zechromosome 2, njalo njalo, ukuya kuthi ga kuma-23.
Nangona kunjalo, kwimeko ye-trisomy 18, endaweni yeekopi ezimbini eziqhelekileyo ze-chromosome 18, kukho ikopi eyongezelelweyo, oko kukuthi, iikopi ezintathu, kwiiseli zomntwana. Igama elithi "Tri" lithetha ezintathu. Yiyo loo nto ibizwa ngokuba yi "trisomy 18." Le chromosome eyongezelelweyo inokubangela iingxaki ezahlukeneyo ekuphuhlisweni kwamalungu amaninzi emzimbeni womntwana.
Ngaba kukho iintlobo ze-trisomy 18?
Ewe, kukho iintlobo ezintathu ikakhulu:
1. I-Full Trisomy 18 : Olu lolona hlobo luqhelekileyo. Apha, yonke iseli emzimbeni womntwana ine-chromosome ye-18 eyongezelelweyo.
2. I-Partial Trisomy 18: Le yinto engaqhelekanga kakhulu. Endaweni ye-chromosome eyongezelelweyo epheleleyo, yinxalenye ye-chromosome eyongezelelweyo 18 kuphela ekhoyo kwiiseli. Le nxalenye eyongezelelweyo inokuncamathiselwa kwenye i-chromosome (translocation).
3. I-Mosaic Trisomy 18: Le yimeko engaqhelekanga. Apha, ziiseli ezithile kuphela emzimbeni womntwana ezine-chromosome eyongezelelweyo. Ezinye iiseli ziqhelekile. Kufana neeseli ezahlukeneyo ezixutywe kunye njengeethayile ze-mosaic.
Ixhaphake kangakanani le meko?
Isifo sesibini esixhaphakileyo se-chromosome yi-trisomy 18. Esokuqala yi- Down syndrome eyaziwayo, okanye i-trisomy 21.
Ngokwezibalo, malunga nomntwana omnye kwabangama-5,000 ozelweyo usenokuba ne-trisomy 18. Kwaba, uninzi lwabo luxelwa ngamantombazana. Nangona kunjalo, eneneni, uninzi lwabantwana abasandul’ ukuzalwa luchaphazeleka yile meko. Nangona kunjalo, ngenxa yokuba iingxaki ezinxulumene nale meko zinzima, uninzi lwexesha abo bantwana balahleka esibelekweni ngexesha lokukhulelwa.
Ziziphi iimpawu zomntwana one-trisomy 18?
Iintsana ezizalwa zine-trisomy 18 zihlala zincinci kakhulu kwaye zibuthathaka . Zinokuba neengxaki ezininzi zempilo kunye notshintsho lomzimba. Ezinye zezi zidweliswe kwitheyibhile engasezantsi.
| Ilungu lomzimba | Iimpawu ezibonakalayo |
|---|---|
| Intloko nobuso | Intloko encinci kuneqhelekileyo (i-microcephaly), umhlathi omncinci (i-micrognathia), iindlebe ezisezantsi, kunye nenkalakahla eqhekekileyo. |
| Izandla neenyawo | Izandla ezixineneyo (iminwe igoqwe phezu komnye nomnye), iinyawo ezithambileyo nezisezantsi. |
| Intliziyo | Imingxunya ephakathi kwamagumbi entliziyo (i-atrial septal defect okanye i-ventricular septal defect). |
| Ezinye izitho zomzimba | Iziphene zemiphunga, izintso, kunye nesisu/amathumbu. |
| Imeko ngokubanzi | Ukukhula kuhamba kancinci kakhulu.(ukukhula okucothayo), ubunzima bokutya, ukukhala okubuthathaka, kunye nokulibaziseka okukhulu kwengqondo nophuhliso. |
Yintoni ebangela oku? Ngubani osengozini?
Lo ngumbuzo obuzwa ngabazali abaninzi. "Ingaba le yingxaki yam?"
Nceda uqonde ukuba i-trisomy 18 ayibangelwa yimpazamo kamama okanye katata, okanye kukutya, isiselo, okanye ukuziphatha. Yimpazamo yokwahlulahlula ii-chromosome eyenzeka xa kwakheka iqanda okanye isidoda. Akukho nto sinokuyenza ukuyithintela.
Nangona kunjalo, umngcipheko wezi ziphene ze-chromosome uyanda kancinci njengoko umama ekhula (ingakumbi emva kweminyaka engama-35). Nangona kunjalo, umama walo naluphi na ubudala unokuba nomntwana one-trisomy 18.
Ukuba sele unomntwana one-trisomy 18, umngcipheko wokuba nale meko ekukhulelweni kwakho okulandelayo uphakathi kwe-0.5% kunye ne-1%. Nangona kunjalo, ukuba wena okanye iqabane lakho ninotshintsho lwemfuza (ukutshintshwa kwe-trisomy 18) olubangela i-trisomy engaphelelanga 18, esithethe ngayo, umngcipheko unokuba phezulu nangakumbi. Kubaluleke kakhulu ukuthetha nogqirha wakho ngale nto kwaye, ukuba kuyimfuneko, ubone umcebisi wemfuza.
Ngaba oku kungafunyanwa ngexesha lokukhulelwa?
Ewe, ngokuqinisekileyo kunokwenzeka. Ugqirha uza kuqala athathe isampuli yegazi kumama ( uvavanyo lokuhlola ). Nangona oku kungenakuqinisekwa ngokupheleleyo, kunokubonisa ukuba umntwana usemngciphekweni omkhulu wokuba nesiphene se-chromosome esifana ne-trisomy 18.
Ukuba olu vavanyo lubonisa ukuba kukho umngcipheko, kuya kubakho olunye uvavanyo lokuqinisekisa imeko.
- Isampuli yeChorionic Villus (CVS): Kuthathwa isampuli encinci yeplacenta ize ivavanywe kwiiveki zokuqala zokukhulelwa (iiveki 10-13).
- I-Amniocentesis: Emva kweeveki ezili-15, kuthathwa isampulu yolwelo lwe-amniotic olujikeleze umntwana ize ivavanywe.
Zombini ezi mvavanyo zinokubala ngokuchanekileyo iichromosomes zomntwana kwaye ziqinisekise ngokuqinisekileyo ukuba ngaba une-trisomy 18 okanye akunjalo.
Ukongeza, i-ultrasound scan eyenziwa emva kweeveki ezili-12 inokubangela amathandabuzo malunga nale meko ngokujonga izinto ezifana nokukhula komntwana, ukuma kwentliziyo, kunye nendawo ami kuyo amalungu omzimba.
Ingaba kukho unyango? Liyintoni ikamva lomntwana?
Le yingongoma ebucayi kakhulu ekufuneka ithethwe ngayo. Okwangoku akukho nyango lwe-trisomy 18. Oku kungenxa yokuba lutshintsho lwemfuza olukhoyo kwiseli nganye yomzimba womntwana.
Nangona kunjalo, ukungabikho konyango akuthethi ukuba akukho nto inokwenziwa kumntwana. Unyango oluxhasayo lunokunikwa ukuqinisekisa ukuba umntwana ukhululekile kwaye uphilile kangangoko kunokwenzeka.
- Utyando lwezinto ezithile, ezifana neziphene zentliziyo.
- Ukubonelela ngamayeza afunekayo.
- Ukutyisa iityhubhu xa kukho ubunzima ekuseleni ubisi.
- Inkxaso yobunzima bokuphefumla.
Abanye abazali, endaweni yokunyanga abantwana babo ngentlungu, bakhetha ukubagcina bekhululekile okwethutyana, ngothando nothando. Oku kubizwa ngokuba lukhathalelo lwentuthuzelo . Ezi zigqibo zezomntu ngamnye. Kubalulekile ukuthetha ngokukhululekileyo ngazo zonke ezi ndlela nogqirha wakho.
Ngelishwa, ngenxa yeengxaki zempilo ezinzulu ezihambisana nale meko, abantwana abaninzi baphila ubomi obufutshane kakhulu. Malunga nesiqingatha sabo bonke abantwana abazalwayo bayafa kwiveki yokuqala. Ngaphantsi kwe-10% baphila ukubhiyozela usuku lwabo lokuzalwa lokuqala. Kwanabo bantwana basindayo bafuna unyango oluqhubekayo.
Ukunyamekela umntwana onje kunokubadinisa engqondweni nasemzimbeni abazali, ngoko ke kubalulekile ukuba ube nenkxaso kuwe nakwintsapho yakho kolu hambo.
Umyalezo Wokuya Ekhaya
- I-Trisomy 18 yimeko yemfuza ebangelwa kukuba nekopi eyongezelelweyo ye-chromosome number 18.
- Oku akubangelwanga yimpazamo yabazali. Sisiphene esivele ngokungacwangciswanga kwimfuza.
- Le meko inokuchongwa ngeeskeni kunye novavanyo lwegazi olukhethekileyo ngexesha lokukhulelwa.
- Nangona kungekho ndlela ithile yonyango lwale meko, kukho iindlela zokuxhasa umntwana ezinokunceda.
- Kubaluleke kakhulu kubazali abajongene nale meko ukuba bafune inkxaso yengqondo koogqirha, abacebisi, kunye namanye amalungu osapho. Thetha ngokukhululekileyo nogqirha wakho ngayo nayiphi na into.
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