Wake wazibuza ukuthi sizithola kanjani izinto ezifana nombala wamehlo ethu, umbala wesikhumba, kanye nokuthungwa kwezinwele? Konke lokhu kunqunywa izakhi zofuzo esizizuza kumama nobaba bethu. Lezi zakhi zofuzo zihlanganiswe kahle kuma-chromosome. Ngakho-ke, ngezinye izikhathi kungaba nezinguquko ezithile, ukwengezwa, noma ukususwa kula ma-chromosome. Yingakho sibiza ukuhlolwa okukhethekile okubheka izinguquko ezinjalo.
Kalula nje, kuyini ukuhlolwa kwe-Karyotype?
Cabanga ukuthi ngaphakathi kweseli ngalinye emzimbeni wakho kukhona ishelufu lezincwadi elinolwazi oluphelele ngawe. Izincwadi ezikuleli shelufu lezincwadi zibizwa ngama-chromosome. Ngokwesilinganiso, umuntu ophilile unezibhangqa ezingu-23 zalezi zincwadi, noma izincwadi ezingu-46. Sithola ingxenye yalezi kumama wethu kanti enye ingxenye kubaba wethu.
Ukuhlolwa kwe-karyotype kukhipha la ma-chromosome emaseli akho bese kuthatha "isithombe" sawo. Bese sibona kahle,
- Ingabe kukhona ama-chromosome angu-46 ngqo?
- Ingabe inani lama-chromosome linciphile? Noma likhuphukile?
- Ingabe kukhona ukungalingani ngesimo, usayizi, noma ukuhlelwa kwazo?
Kusukela kulezo zimo ezingavamile, singathola izinkomba mayelana nezinye izifo zofuzo.
Ubani odinga lolu vivinyo? Kuziphi izimo?
Lokhu kuhlolwa kungabaluleka ezimweni ezahlukene. Ake sibone ukuthi ziyini.
| Ithimba labantu elidingekayo | Isizathu kanye nencazelo |
|---|---|
| Kwabantu abadala |
|
| Ngomntwana osesiswini |
|
| Kwabantwana abancane kanye nezingane ezincane | Lokhu kuhlolwa kwenziwa ukuqinisekisa ukuthi ingane ikhombisa noma yiziphi izimpawu zokulibaziseka kokukhula noma isifo sofuzo. |
Ingabe udinga ukulungiselela ngaphambi kokuhlolwa?
Ngokuvamile, lokhu kuhlolwa akudingi ukulungiselela okuningi. Kodwa-ke, uma usanda kumpontshelwa igazi, kufanele utshele udokotela wakho . Angase akucele ukuthi ulinde izinsuku ezimbalwa ngaphambi kokwenza ukuhlolwa.
Kwezinye izimo, udokotela wakho angase akucebise ukuthi uzile ukudla (ungadli noma uphuze) amahora ambalwa ngaphambi kokuhlolwa. Ngakho-ke, kungcono ukubuza udokotela wakho ukuthi kukhona yini imiyalelo ekhethekile okudingeka uyilandele ngaphambi kokuhlolwa.
Into ebaluleke kakhulu ukuthi isinqumo sokwenza lolu hlobo lokuhlolwa singesakho ngokuphelele. Imiphumela yokuhlolwa, ikakhulukazi okuhilela umbungu, ingaba nomthelela omkhulu ngokomzwelo kubazali. Ngakho-ke, kubaluleke kakhulu ukukhuluma nomeluleki wezakhi zofuzo noma udokotela wakho ukuze uqonde ngokugcwele izinzuzo, ububi, kanye nemiphumela engaba khona yalolu vivinyo.
Izindlela ezahlukene zokwenza isivivinyo se-karyotype
Kunezindlela eziningana zokuthola isampula yeseli edingekayo kulolu vivinyo, kuye ngezidingo zakho nesimo sakho.
- Ukuhlolwa Kwegazi: Lena yindlela evame ukusetshenziswa kakhulu. Isetshenziselwa abantu abadala, izinsana, kanye nezingane ezincane.
- Ukuphefumula Komnkantsha Wamathambo Nokuhlolwa Kwegazi: Kuthathwa isampula yomnkantsha wamathambo futhi ihlolwe kubantu abanomdlavuza noma izifo ezihlobene negazi njenge-leukemia.
- I-Amniocentesis: Ngesikhathi sokukhulelwa, kuthathwa isampula yoketshezi lwe-amniotic oluzungeze umntwana esibelethweni bese luhlolwa.
- Ukusampula Kwe-Chorionic Villus (CVS): Ukuhlolwa okuthatha isampula yamaseli avela ku-placenta, enikeza umntwana ukudla okunempilo, ngesikhathi sokukhulelwa.
Kwenzekani ngesikhathi sokuhlolwa kwegazi?
Lokhu kulula kakhulu futhi kungaqedwa ngemizuzu embalwa.
1. Elabhorethri, kuzothathwa igazi elincane emthanjeni osengalweni yakho kusetshenziswa inalithi encane.
2. Uzwa ubuhlungu obuncane obuhlabayo.
3. Qoqa igazi ngepayipi, susa inaliti, bese ufaka ibhandishi elincane endaweni.
Uthatha kanjani isampula yomnkantsha?
Lokhu kuvame ukwenziwa udokotela ogxile kumdlavuza (udokotela wezifo zomdlavuza) noma izifo zegazi (udokotela wegazi).
1. Abanye abantu banikezwa imithi yokubenza bazizwe bedakiwe.
2. Uzophendulwa ulale ohlangothini noma esiswini sakho.
3. Ngokuvamile, umuthi wokubulala izinzwa ufakwa engxenyeni engenhla yethambo lesinqe.
4. Inaliti encane ibe isifakwa ngethambo ukuze kuthathwe isampula yoketshezi lomnkantsha kanye nengxenye yezicubu. Ungase uzizwe ucindezelekile noma ubuhlungu obuncane ngalesi sikhathi.
Kwenzekani ngesikhathi sokuhlolwa kwe-amniocentesis?
Lokhu kuvame ukwenziwa phakathi kwamasonto ayi-15 nama-20 okukhulelwa.
1. Uzolaliswa phansi bese kwenziwa i-scan (ultrasound).
2. Ngesikhathi ubheka ukuhlolwa, kufakwa inaliti encane esibelethweni sakho ngesisu, kuqikelelwe ukuthi ingane ayilimali.
3. Le naliti ifakwa esikhwameni se-amniotic, kuthathwa isampula yoketshezi, bese inaliti isuswa. Ungase uzizwe umuzwa omncane wokushisa noma wokuhlaba ngalesi sikhathi.
Kwenziwa kanjani ukuhlolwa kwe-Chorionic Villus Sampling (CVS)?
Lokhu kuvame ukwenziwa phakathi kwamasonto ayi-10 kuya kwayi-13 okukhulelwa.
1. Lokhu kwenziwa nangokubheka iskena.
2. Kunezindlela ezimbili zokwenza lokhu. Enye iwukuthatha isampula ye-placenta ngokufaka ipayipi elincane elidlula esithweni sangasese sowesifazane bese lingena emlonyeni wesibeletho.
3. Enye indlela, efana ne-amniocentesis, ihilela ukufaka inaliti esiswini bese uthatha isampula yeseli kusuka ku-placenta.
Ingabe zikhona izingozi kulezi zivivinyo?
Njenganoma yikuphi ukuhlolwa kwezokwelapha, kunezingozi ezincane ezihilelekile. Kodwa ungakhathazeki, izingozi ezinkulu azivamile.
- Ngesikhathi sokuhlolwa kwegazi: Kungase kube nokuklwebheka, ukopha okuncane, noma ubuhlungu endaweni yokubhoboza.
- Ngesikhathi sokuhlolwa komnkantsha: Kungase kube nokopha, ukuklwebheka, ukutheleleka, noma ubuhlungu endaweni yokubhoboza.
- Ngokuhlolwa kwe-amniocentesis noma kwe-CVS: Kukhona ingozi encane kakhulu yokopha okuncane, ukuklwebheka, kanye nokutheleleka kwesibeletho. Kukhona futhi ingozi engavamile kakhulu yokuphuphuma kwesisu (cishe oyedwa kwabayi-100 abane-CVS, ngaphansi koyedwa kwabayi-200 abane-amniocentesis).
Udokotela wakho uzokuchazela kabanzi ngalezi zingozi.
Kuthatha isikhathi esingakanani ukuthola imiphumela? Isho ukuthini imiphumela?
Ngokuvamile kungathatha amasonto ambalwa ukuthi imiphumela yokuhlolwa ibuye. Buza udokotela wakho ngalesi sikhathi.
Uma umphumela "ungavamile," kusho ukuthi kukhona ushintsho kuma-chromosome akho noma engane yakho. Lokhu kungasiza ekuboneni ezinye izimo zofuzo. Isibonelo:
- I-Down Syndrome (i-Down Syndrome noma i-Trisomy 21): Isimo esibangela ukubambezeleka ekukhuleni kwengqondo nasekukhuleni ngokomzimba.
- I-Edwards Syndrome (i-Edwards Syndrome noma i-Trisomy 18): Isimo esibangela izinkinga ezinkulu ngamaphaphu, izinso kanye nenhliziyo.
- I-Patau Syndrome: Isimo esibonakala ngokubambezeleka kokukhula ngaphakathi kwesibeletho kanye nesisindo esiphansi sokuzalwa.
- I-Turner Syndrome: Isimo esivimbela ukuthuthukiswa kwezici zocansi emantombazaneni.
Into ebaluleke kakhulu ukuthi lo mbiko wemiphumela ungase ube nzima ngawe ukuwuqonda wedwa. Ngakho-ke, khuluma nodokotela wakho kuphela ngemiphumela nezinyathelo ezilandelayo . Uzokuchazela konke futhi akunike isiqondiso esidingekayo.
Umlayezo Wokuya Nawe Ekhaya
- Ukuhlolwa kwe-karyotype kuwukuhlolwa okuthatha "isithombe" sama-chromosome akho bese kubheka noma yikuphi ukukhubazeka.
- Lokhu kusiza ekuboneni izinkinga zokuzala, eminye imidlavuza, kanye nezinkinga zofuzo enganeni esibelethweni.
- Lokhu kuhlolwa kungenziwa kusetshenziswa izindlela ezahlukene, njengesampula yegazi, isampula yomnkantsha, noma uketshezi lomgogodla.
- Ngaphambi kokwenza lokhu kuhlolwa, kubalulekile ukuxoxa ngezinzuzo, ukungalungi, kanye nezingozi nodokotela wakho.
- Kubaluleke kakhulu ukufuna iseluleko sezokwelapha kanye nokwelulekwa ukuze uqonde imiphumela futhi ulawule ukucindezeleka okuhambisana nakho.
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