Uma ukhulelwe, udokotela ukucela ukuthi wenze izivivinyo ezahlukahlukene, akunjalo? Ngezinye izikhathi uma uzwa amagama alezi zivivinyo zezokwelapha, uzizwa wesaba futhi unelukuluku. Kwabaningi, isivivinyo esingajwayelekile kancane, kodwa esibaluleke kakhulu, sibizwa ngokuthi isivivinyo se-karyotype. Abanye abantu basibiza nangokuthi isivivinyo sofuzo, isivivinyo se-chromosome, noma ukuhlaziywa kwe-cytogenetic. Ungakhathazeki, la magama abhekisela esivivinyweni esifanayo. Namuhla, sizokhuluma ngalokhu kalula, ngendlela ongayiqonda.
Iyini ngempela le Karyotype Test?
Kalula nje, ukuhlolwa kwe-karyotype kubheka kakhulu ama-chromosome angaphakathi kwamaseli omzimba wethu. Cabanga ngala ma-chromosome njengohlelo lwendlela umzimba wethu ozokwakhiwa ngayo. Lolu vivinyo lubheka noma yiziphi izinguquko noma ukungalingani kulolu hlelo lwe-algorithm.
Ngesikhathi sokukhulelwa kwakho, udokotela wakho cishe uzoyala ukuhlolwa kokuhlolwa ukuze ahlole izimo ezithile zofuzo kanye neze-chromosome phakathi ne-trimester yokuqala kanye ne-trimester yesibili. Esikhathini esiningi, imiphumela yalezi zivivinyo ingaphakathi kwebanga elijwayelekile. Akudingeki ukuhlolwa okwengeziwe.
Kodwa-ke, uma lezo zivivinyo zokuqala zibonisa ngandlela thile ukuthi kungase kube nenkinga, udokotela wakho angase akuphakamise ukuthi wenze olunye uvivinyo, njengokuhlolwa kwe-Karyotype. Lokhu kungaqinisekisa ngokuqiniseka ukuthi ingane ekhula esibelethweni inenkinga yofuzo noma ye-chromosome.
Yini efunwa ukuhlolwa kwe-karyotype?
Ngokuvamile, umuntu ophilile unama-chromosome angu-46. Ingane ithola angu-23 kumama kanti amanye angu-23 kubaba.
Ngezinye izikhathi, ingane ingaba ne-chromosome eyengeziwe, i-chromosome eyodwa ilahlekile, noma kungase kube noshintsho olungavamile kwenye yama-chromosome. Ukuhlolwa kwe-karyotype kungabonisa ngqo ukuthi lokhu kunjalo. Lezi ezinye zezimo odokotela abazibheka kakhulu kulokhu kuhlolwa.
| Isimo | Kuchazwe kalula |
|---|---|
| I-Down syndrome (i-Down syndrome - i-Trisomy 21) | Ingane inama-chromosome amathathu (engeziwe) esikhundleni sama-chromosome amabili ku-chromosome 21. Lokhu kuthinta ukubukeka kwengane kanye nekhono lokufunda. |
| I-Edwards syndrome (i-Edwards syndrome - i-Trisomy 18) | Ingane ine-chromosome eyengeziwe engu-18. Lezi zingane zivame ukuba nezinkinga eziningi zempilo, futhi eziningi aziphili isikhathi esingaphezu konyaka. |
| I-Patau syndrome (i-Trisomy 13) | Ingane ine-chromosome eyengeziwe engu-13. Lezi zingane zivame ukuba nesifo senhliziyo kanye nokukhubazeka okukhulu kwengqondo. Eziningi aziphili ngaphezu konyaka. |
| Isifo se-Klinefelter | Ingane yesilisa ine-chromosome X eyengeziwe (njenge-XXY). Ukuthomba kwayo kungase kubambezeleke, futhi izingane zingase zilahlekelwe ikhono lokuthola abantwana. |
| I-Turner syndrome | Ingane yesifazane ingase ibe nenye yama-chromosome ayo angu-X engekho noma eyonakele. Lokhu kungabangela isifo senhliziyo, izinkinga zentamo, kanye nobude obufushane. |
Ukuhlolwa kwe-Karyotype akusetshenziselwa nje kuphela ukuthola amaphutha ofuzo enganeni ngesikhathi sokukhulelwa, kodwa kunezinye izinzuzo.
- Uma unenkinga yokukhulelwa umntwana , noma uke waphuphuma izisu kaningana, udokotela wakho angenza lolu vivinyo ukuze ahlole noma yiziphi izinkinga ngama-chromosome akho noma omlingani wakho.
- Thola ukuthi ungadlulisela yini isimo sofuzo enganeni yakho.
- Uma kwenzeka ukuzalwa kwengane isishonile, qinisekisa ukuthi imbangela iyinkinga yofuzo .
- Thola imbangela yanoma yiziphi izinkinga zomzimba noma zokukhula okungenzeka ukuthi ingane yakho noma ingane encane inazo.
- Esimweni esingavamile lapho ubulili bomntwana osanda kuzalwa bungacacile, qinisekisa lokho.
- Ezinye izinhlobo zomdlavuzaUmdlavuza ungabangela izinguquko kuma-chromosome. Ukuhlolwa kwe-karyotype kungasiza ekunqumeni ukwelashwa okufanele.
Yiziphi lezi zinhlobo zokuhlolwa kwe-Karyotype futhi zenziwa nini?
Lokhu kuhlolwa kungenziwa kuphela emavikini athile okukhulelwa. Udokotela wakho uzonquma ukuthi yikuphi ukuhlolwa okukulungele, kuye ngokuthi usekude kangakanani ekukhulelweni kwakho kanye nezici zakho eziyingozi.
Ingane inamathuba amancane okuba nenkinga ye-chromosome ezimweni ezilandelayo:
- Uma uneminyaka engaphezu kwengu-35 ubudala.
- Uma usuvele unengane enesifo se-chromosome , noma uma othile emndenini wakho enalesi simo.
- Uma wena noma umlingani wakho ninezinkinga ezithile kuma-chromosome abo.
- Uma uke waphuphuma isisu ngaphambilini noma wabeletha ingane isishonile.
Kunezinhlobo ezimbili eziyinhloko zokuhlolwa okwenziwayo:
1. Ukusampula Kwe-Chorionic Villus (i-CVS)
Kulokhu, udokotela usebenzisa inalithi ende ukususa isampula encane kakhulu yezicubu ku-placenta , enikeza umntwana ukudla okunomsoco. Lawa maseli athunyelwa elabhorethri ukuze ayohlolwa. Lokhu kungasiza ekunqumeni ukuthi umntwana unezinkinga zofuzo ezifana ne-Down syndrome, i-trisomy 13, noma i-trisomy 18.
- Isikhathi sokukwenza: Phakathi kwamasonto ayi-10 kuya kwayi-13 okukhulelwa.
- Izingozi: Kukhona ingozi encane kakhulu yokuphuphuma kwesisu ngenxa yalokhu kuhlolwa (cishe owesifazane oyedwa kwabayi-100 abahlolwayo). Kukhona nengozi ethile enganeni, ngakho odokotela bayincoma kuphela uma kunengozi enkulu yokuthi ingane ibe nenkinga.
2. I-Amniocentesis
Kulolu vivinyo, udokotela ufaka inalithi ende esiswini sakho bese ethatha inani elincane loketshezi lwe-amniotic oluzungeze umntwana esibelethweni. Amaseli engane kulolu ketshezi athunyelwa ukuze ahlolwe. Ngaphezu kwazo zonke izinkinga zofuzo ezibhekwa yi-CVS test, ingabona nezimo ezingathi sína ezithinta ubuchopho bomntwana noma umgogodla (iziphambeko ze-neural tube).
- Isikhathi sokukwenza: Phakathi kwamasonto ayi-15 nama-20 okukhulelwa.
- Ingozi: Kusenengozi encane yokuphuphuma kwesisu, kodwa iphansi kune-CVS (cishe owesifazane oyedwa kwabangu-200 ohlolwe).
Ingabe zikhona izingozi kulezi zivivinyo?
Yebo, njengoba sixoxile ngaphambili, kunezingozi ezithile ezihambisana nezindlela ezisetshenziswa ukuthola la maseli. I-CVS noma i-Amniocentesis akuvamile ukubangela ukuphuphuma kwesisu . Kukhona nethuba elincane lokopha kakhulu noma ukutheleleka. Udokotela wakho uzoxoxa nawe ngakho konke lokhu ngokuningiliziwe. Ngakho-ke ngaphambi kokuba wethuke, buza udokotela wakho noma yimiphi imibuzo ongase ube nayo.
Kwenzekani ngemva kokufika kwemiphumela yokuhlolwa?
Lokhu kuyinto ebaluleke kakhulu. Imiphumela yokuhlolwa kwe-karyotype icacile kakhulu. Okusho ukuthi, uma imiphumela isitholiwe, ungazi ngokuqinisekile ukuthi ingane 'inenkinga' yezakhi zofuzo noma 'ayinayo'.
Lokhu akufani nokuhlolwa kokuhlolwa kwangaphambilini. Bakusho kuphela ukuthi ingozi 'iphezulu' noma 'iphansi'. Kodwa umphumela wokuhlolwa kwe-Karyotype awusiwo ukuqagela, kodwa uwukuqinisekisa.
Uma usuthole imiphumela, udokotela wakho uzoxoxa nawe ngayo ngokuningiliziwe futhi akuchazele ukuthi yiziphi izinyathelo okudingeka uzithathe ngokulandelayo.
Umlayezo Wokuya Nawe Ekhaya
- Ukuhlolwa kwe-karyotype kuwukuhlolwa okukhethekile kwezakhi zofuzo okuhlola ukukhubazeka kuma-chromosome emaseli ethu.
- Uma ukuhlolwa kokuqala ngesikhathi sokukhulelwa kubonisa noma iyiphi ingozi, lokhu kuhlolwa kwenziwa ukuqinisekisa ngokuqinisekile ukuthi zikhona yini izimo ezifana ne-Down syndrome.
- Izindlela ezifana ne-CVS kanye ne-Amniocentesis, eziqoqa amaseli ngale njongo, zinengozi encane kakhulu yokuphuphuma kwesisu, ngakho-ke zenziwa kuphela ezimweni ezimbi kakhulu.
- Umphumela wokuhlolwa kwe-karyotype awuyona into yokuqagela efana nokuthi "ingozi ephezulu/ephansi", kodwa impendulo eqondile ethi "kunenkinga/akukho nkinga".
- Zizwe ukhululekile ukucela udokotela wakho ukuthi akucacisele nganoma yini onayo engqondweni mayelana nalolu vivinyo, izingozi zalo, kanye nemiphumela yalo.
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