Xa ukhulelwe, ugqirha ukucela ukuba wenze iimvavanyo ezahlukeneyo, akunjalo? Ngamanye amaxesha xa usiva amagama ezi mvavanyo zonyango, uziva usoyika kwaye unomdla. Kwabaninzi abantu, uvavanyo olungaziwayo kancinci, kodwa olubaluleke kakhulu, lubizwa ngokuba luvavanyo lwe-karyotype. Abanye abantu balubiza ngokuba luvavanyo lwemfuza, uvavanyo lwe-chromosome, okanye uhlalutyo lwe-cytogenetic. Ungakhathazeki, la magama abhekisa kuvavanyo olufanayo. Namhlanje, siza kuthetha ngale nto ngokulula, ngendlela onokuyiqonda.
Yintoni kanye kanye le Karyotype Test?
Ngamafutshane, uvavanyo lwe-karyotype lujonga ngokusondeleyo ii-chromosomes ezingaphakathi kwiiseli zomzimba wethu. Cinga ngezi chromosomes njengomzobo wendlela umzimba wethu oza kwakhiwa ngayo. Olu vavanyo lujonga naluphi na utshintsho okanye ukungaqheleki kolu mzobo.
Ngexesha lokukhulelwa kwakho, ugqirha wakho usenokuyalela uvavanyo lokuhlolwa ukuze kuhlolwe iimeko ezithile zemfuza kunye neze-chromosome ngexesha le-trimester yokuqala kunye ne-trimester yesibini. Uninzi lwexesha, iziphumo zezi vavanyo zingaphakathi koluhlu oluqhelekileyo. Akukho mfuneko yolunye uvavanyo.
Nangona kunjalo, ukuba ezo mvavanyo zokuqala zibonisa ukuba kunokubakho ingxaki, ugqirha wakho unokucebisa ukuba wenze olunye uvavanyo, njengovavanyo lweKaryotype. Oku kunokuqinisekisa ngokuqinisekileyo ukuba umntwana okhulela esibelekweni unengxaki yemfuza okanye ye-chromosome.
Uvavanyo lwe-karyotype lujonge ntoni?
Ngokwesiqhelo, umntu ophilileyo unee-chromosomes ezingama-46. Usana lufumana ezingama-23 kwezi kumama kwaye ezinye ezingama-23 zifunyanwa nguyise.
Ngamanye amaxesha, umntwana unokuba ne-chromosome eyongezelelweyo, i-chromosome enye ilahlekile, okanye kunokubakho utshintsho olungaqhelekanga kwenye yee-chromosomes. Uvavanyo lwe-karyotype lunokubonisa ngqo ukuba oku kunjalo na. Ezi zezinye zeemeko oogqirha abazijonga kakhulu kolu vavanyo.
| Imeko | Icacisiwe ngokulula |
|---|---|
| I-Down syndrome (i-Down syndrome - iTrisomy 21) | Umntwana uneechromosome ezintathu (ezongezelelweyo) endaweni yezimbini kwichromosome 21. Oku kuchaphazela inkangeleko yomntwana kunye nokukwazi kwakhe ukufunda. |
| Isifo sikaEdwards (isifo sikaEdwards - iTrisomy 18) | Usana lune-chromosome eyongezelelweyo eyi-18. Aba bantwana badla ngokuba neengxaki ezininzi zempilo, kwaye uninzi lwabo aluphili ngaphezu konyaka. |
| Isifo sikaPatau (iTrisomy 13) | Usana lune-chromosome eyongezelelweyo 13. Aba bantwana badla ngokuba nesifo sentliziyo kunye nokukhubazeka kwengqondo okukhulu. Uninzi lwabo aluphili ngaphezu konyaka. |
| Isifo seKlinefelter | Umntwana oyinkwenkwe une-chromosome X eyongezelelweyo (efana ne-XXY). Ukufikisa kwabo kunokulibaziseka, kwaye abantwana banokulahlekelwa ngamandla okuba nabantwana. |
| I-Turner syndrome | Umntwana oyintombazana usenokuba nenye yeekromosomu zakhe ze-X engekhoyo okanye eyonakeleyo. Oku kunokubangela isifo sentliziyo, iingxaki zentamo, kunye nobude obufutshane. |
Uvavanyo lwe-karyotype alusetyenziselwa kuphela ukubona iziphene zemfuza kumntwana ngexesha lokukhulelwa, kodwa lunezinye izibonelelo.
- Ukuba unengxaki yokukhulelwa umntwana , okanye uphunyelwe zizisu izihlandlo ezininzi, ugqirha wakho angenza olu vavanyo ukujonga naziphi na iingxaki ngeekromosomu zakho okanye zeqabane lakho.
- Fumanisa ukuba ungakwazi na ukudlulisela imeko yemfuza kumntwana wakho.
- Ukuba umntwana ozelwe eswelekile, qinisekisa ukuba unobangela yingxaki yemfuza .
- Fumana unobangela weengxaki zomzimba okanye zophuhliso umntwana wakho okanye umntwana omncinci anokuba nazo.
- Kwimeko engaqhelekanga apho isini sosana olusandul’ ukuzalwa singacacanga, qinisekisa oko.
- Ezinye iintlobo zomhlazaUmhlaza unokubangela utshintsho kwiikhromosomu. Uvavanyo lwe-karyotype lunokunceda ekufumaneni unyango olufanelekileyo.
Ziziphi ezi ntlobo zovavanyo lweKaryotype kwaye zenziwa nini?
Olu vavanyo lunokwenziwa kuphela kwiiveki ezithile zokukhulelwa. Ugqirha wakho uya kugqiba ukuba loluphi uvavanyo olukulungeleyo, kuxhomekeke ekubeni ukhulelwe ixesha elingakanani kunye nezinto ezikubangela umngcipheko.
Umntwana unokuba nengxaki ye-chromosome kancinci kwiimeko ezilandelayo:
- Ukuba uneminyaka engaphezu kwama-35 ubudala.
- Ukuba sele unomntwana onesifo se-chromosome , okanye ukuba kukho umntu kusapho lwakho onayo le meko.
- Ukuba wena okanye iqabane lakho ninee-chromosomes ezingaqhelekanga.
- Ukuba ukhe waphunyelwa zizisu ngaphambili okanye wazala umntwana oswelekileyo.
Kukho iintlobo ezimbini eziphambili zovavanyo ezenziwayo:
1. Isampuli yeChorionic Villus (CVS)
Kule meko, ugqirha usebenzisa inaliti ende ukususa isampuli encinci kakhulu yezicubu kwi-placenta , enika umntwana ukutya. Ezi seli zithunyelwa kwilebhu ukuze zivavanyelwe. Oku kunokunceda ekuqinisekiseni ukuba umntwana uneengxaki zemfuza ezifana ne-Down syndrome, i-trisomy 13, okanye i-trisomy 18.
- Ixesha lokukwenza oku: Phakathi kweeveki ezili-10 ukuya kwezili-13 zokukhulelwa.
- Iingozi: Kukho umngcipheko omncinci kakhulu wokuphuphuma kwesisu ngenxa yolu vavanyo (malunga nomntu omnye kwabasetyhini abali-100 abenza uvavanyo). Kukwakho nomngcipheko othile kumntwana, ngoko oogqirha bacebisa kuphela ukuba kukho umngcipheko omkhulu wokuba umntwana abe nengxaki.
2. I-Amniocentesis
Kolu vavanyo, ugqirha ufaka inaliti ende esiswini sakho aze athathe inani elincinci lolwelo lwe-amniotic olujikeleze umntwana osesibelekweni. Iiseli zomntwana kolu lwelo zithunyelwa ukuba zivavanywe. Ngaphezu kwazo zonke iingxaki zemfuza ezijongwa luvavanyo lwe-CVS, lunokufumanisa neemeko ezinzulu ezichaphazela ingqondo yomntwana okanye umqolo (iingxaki zetyhubhu ye-neural).
- Ixesha lokukwenza oku: Phakathi kweeveki ezili-15 nezingama-20 zokukhulelwa.
- Umngcipheko: Kusenokubakho umngcipheko omncinci wokuphuma kwesisu, kodwa uphantsi kune-CVS (malunga ne-1 kwabasetyhini abangama-200 abavavanyiweyo).
Ngaba kukho naziphi na iingozi kwezi mvavanyo?
Ewe, njengoko besitshilo ngaphambili, kukho iingozi ezithile ezinxulumene neendlela ezisetyenziswayo ukufumana ezi seli. I-CVS okanye i-Amniocentesis azinakubangela ukuphuphuma kwesisu . Kukwakho nethuba elincinci lokopha kakhulu okanye usulelo. Ugqirha wakho uza kuxoxa nawe ngazo zonke ezi zinto ngokweenkcukacha. Ngoko ke ngaphambi kokuba woyike, buza ugqirha wakho nayiphi na imibuzo onokuba nayo.
Kwenzeka ntoni emva kokuba iziphumo zovavanyo zifikile?
Le yeyona nto ibalulekileyo. Iziphumo zovavanyo lwe-karyotype zicacile kakhulu. Oko kukuthi, xa iziphumo zifunyenwe, unokwazi ngokuqinisekileyo ukuba umntwana 'unengxaki' yemfuza okanye 'akanayo'.
Oku akufani novavanyo lwangaphambili lokuhlola. Bathi kuphela ukuba umngcipheko 'uphezulu' okanye 'uphantsi'. Kodwa iziphumo zovavanyo lweKaryotype azikho nje ukuqikelela, kodwa zisiqinisekiso.
Wakuba ufumene iziphumo, ugqirha wakho uza kuxoxa nawe ngokweenkcukacha aze akuchazele amanyathelo ekufuneka uwathathe ngokulandelayo.
Umyalezo Wokuya Ekhaya
- Uvavanyo lwe-karyotype luvavanyo olukhethekileyo lwemfuza olujonga iingxaki kwii-chromosomes kwiiseli zethu.
- Ukuba uvavanyo lokuqala ngexesha lokukhulelwa lubonisa nayiphi na ingozi, olu vavanyo lwenziwa ukuqinisekisa ngokuqinisekileyo ukuba zikhona na iimeko ezifana neDown syndrome.
- Iindlela ezifana neCVS kunye neAmniocentesis, eziqokelela iiseli ngenxa yesi sizathu, zinomngcipheko omncinci kakhulu wokuphuma kwesisu, ngoko ke zenziwa kuphela kwiimeko ezigqithisileyo.
- Isiphumo sovavanyo lwe-karyotype asikuko ukuqikelela okufana "nomngcipheko ophezulu/ophantsi", kodwa yimpendulo ecacileyo ethi "kukho ingxaki/akukho ngxaki".
- Zive ukhululekile ukucela ugqirha wakho ukuba akucacisele nantoni na ocinga ngayo ngolu vavanyo, iingozi zalo, kunye neziphumo zalo.
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