Ngaba wakha wazibuza ukuba sizifumana njani izinto ezifana nombala wamehlo ethu, umbala wolusu, kunye nokumila kweenwele? Konke oku kuxhomekeka kwiijini esizizuza kumama notata. Ezi jini zipakishwe kakuhle kwiikromosomu. Ngoko ke, ngamanye amaxesha kunokubakho utshintsho oluthile, ukongezwa, okanye ukuncitshiswa kwezi kromosomu. Yiyo loo nto sibiza uvavanyo olukhethekileyo olukhangela olo tshintsho.
Ngamafutshane, yintoni uvavanyo lweKaryotype?
Khawuthelekelele ukuba ngaphakathi kwiseli nganye emzimbeni wakho kukho ishelufu yeencwadi enolwazi olupheleleyo ngawe. Iincwadi ezikweli shelufu yeencwadi zibizwa ngokuba ziichromosomes. Ngokomyinge, umntu ophilileyo unezibini ezingama-23 zezi ncwadi, okanye iincwadi ezingama-46. Sifumana isiqingatha sazo kumama wethu kwaye esinye isiqingatha sifumana kubaba wethu.
Uvavanyo lwe-karyotype luvavanyo olukhupha ezi chromosomes kwiiseli zakho luze luthathe "umfanekiso" wazo. Emva koko sinokubona ngokuchanekileyo,
- Ngaba kukho iichromosome ezingama-46 ngqo?
- Ngaba inani leekhromosomu linciphile? Okanye linyukile?
- Ngaba kukho naziphi na izinto ezingaqhelekanga kwimilo yazo, ubungakanani bazo, okanye indlela ezihlelwe ngayo?
Kwiimeko ezinjalo ezingaqhelekanga, sinokufumana ulwazi malunga nezinye izifo zemfuza.
Ngubani ofuna olu vavanyo? Kuphantsi kwaziphi iimeko?
Olu vavanyo lunokuba lubalulekile kwiimeko ezahlukeneyo. Masibone ukuba zithini.
| Iqela labantu elifunekayo | Isizathu kunye nengcaciso |
|---|---|
| Kwabantu abadala |
|
| Kumntwana osesiswini |
|
| Kwiintsana nabantwana abancinci | Olu vavanyo lwenziwa ukuqinisekisa ukuba umntwana ubonisa naziphi na iimpawu zokulibaziseka kokukhula okanye isifo semfuza. |
Ngaba kufuneka uzilungiselele ngaphambi kovavanyo?
Ngokwesiqhelo, olu vavanyo aludingi kulungiselela okuninzi. Nangona kunjalo, ukuba usandul' ukufakelwa igazi, kufuneka uxelele ugqirha wakho . Angakucela ukuba ulinde iintsuku ezimbalwa ngaphambi kokuba wenze uvavanyo.
Kwezinye iimeko, ugqirha wakho unokukucebisa ukuba uzile ukutya (ungatyi okanye usele) iiyure ezimbalwa ngaphambi kovavanyo. Kungoko ke, kungcono ukubuza ugqirha wakho ukuba kukho nayiphi na imiyalelo ekhethekileyo ekufuneka uyilandele ngaphambi kovavanyo.
Eyona nto ibalulekileyo kukuba isigqibo sokwenza olu hlobo lovavanyo sesakho ngokupheleleyo. Iziphumo zovavanyo, ingakumbi olubandakanya umntwana ongekazalwa, zinokubachaphazela kakhulu ngokweemvakalelo abazali. Ke ngoko, kubaluleke kakhulu ukuthetha nomcebisi wezofuzo okanye ugqirha wakho ukuze uqonde ngokupheleleyo izinto ezilungileyo, iingxaki kunye nemiphumo enokubakho yolu vavanyo.
Iindlela ezahlukeneyo zokwenza uvavanyo lwe-karyotype
Kukho iindlela ezahlukeneyo zokufumana isampuli yeseli efunekayo kolu vavanyo, kuxhomekeke kwiimfuno zakho nemeko yakho.
- Uvavanyo lwegazi: Le yindlela esetyenziswa kakhulu. Isetyenziswa kubantu abadala, iintsana, kunye nabantwana abancinci.
- Ukuphefumla kunye neBiopsy yeBone Marrow: Kuthathwa isampulu yomongo wethambo ize ivavanywe kubantu abanomhlaza okanye izifo ezinxulumene negazi ezifana ne-leukemia.
- I-Amniocentesis: Ngexesha lokukhulelwa, kuthathwa isampulu yolwelo lwe-amniotic olujikeleze umntwana esibelekweni ize ivavanywe.
- I-Chorionic Villus Sampling (CVS): Uvavanyo oluthatha isampuli yeeseli kwi-placenta, enika umntwana ukutya, ngexesha lokukhulelwa.
Kwenzeka ntoni ngexesha lovavanyo lwegazi?
Oku kulula kakhulu kwaye kungagqitywa ngemizuzu embalwa.
1. Kwilabhoratri, igazi elincinci liza kuthathwa kumthambo osengalweni yakho kusetyenziswa inaliti encinci.
2. Uziva intlungu encinci ehlabayo.
3. Qokelela igazi kwityhubhu, susa inaliti, uze ufake ibhandishi encinci kuloo ndawo.
Uthatha njani isampuli yomongo wethambo?
Oku kudla ngokwenziwa ngugqirha ogxile kumhlaza (umhlaza) okanye izifo zegazi (i-hematologist).
1. Abanye abantu banikwa amayeza okubenza bazive benxilile.
2. Uza kujika ulale ecaleni okanye esiswini sakho uze ulale phantsi.
3. Ngokwesiqhelo, iyeza lokudambisa iintlungu lifakwa kwinxalenye ephezulu yethambo lesinqe.
4. Emva koko kufakwa inaliti encinci ngethambo ukuze kuthathwe isampuli yolwelo lomongo wethambo kunye neqhekeza lesicwili. Usenokuziva uxinzelelo okanye intlungu encinci ngeli xesha.
Kwenzeka ntoni ngexesha lovavanyo lwe-amniocentesis?
Oku kudla ngokwenziwa phakathi kweeveki ezili-15 nezingama-20 zokukhulelwa.
1. Uza kulaliswa phantsi kwaye kuya kwenziwa i-scan (ultrasound).
2. Ngethuba ujonga iskeni, kufakwa inaliti encinci esibelekweni sakho ngesisu, ulumke ungalimazi umntwana.
3. Le naliti ifakwa kwi-amniotic sac, kuthathwa isampuli yolwelo, ize ikhutshwe inaliti. Usenokuziva utshile okanye urhawuzelelwa kancinci ngeli xesha.
Yenziwa njani iChorionic Villus Sampling (CVS)?
Oku kudla ngokwenziwa phakathi kweeveki ezili-10 ukuya kwezili-13 zokukhulelwa.
1. Oku kwenziwa nangokujonga kwiskeni.
2. Zimbini iindlela zokwenza oku. Enye kukuthatha isampuli ye-placenta ngokufaka ityhubhu encinci edlula kwilungu lobufazi ize ingene emlonyeni wesibeleko.
3. Enye indlela, efana ne-amniocentesis, ibandakanya ukufaka inaliti esiswini kunye nokuthatha isampuli yeseli kwi-placenta.
Ngaba kukho naziphi na iingozi kwezi mvavanyo?
Njengakuvavanyo lwezonyango, kukho iingozi ezincinci ezibandakanyekayo. Kodwa ungakhathazeki, iingozi ezinkulu azixhaphakanga.
- Ngexesha lovavanyo lwegazi: Kunokubakho imikrwelo, ukopha kancinci, okanye intlungu kwindawo ebhoboziweyo.
- Ngexesha lokuthathwa kwesampuli yomongo: Ukopha, ukukrweleka, usulelo, okanye intlungu zinokwenzeka kwindawo apho inaliti ibhobokileyo khona.
- Ngovavanyo lwe-amniocentesis okanye lwe-CVS: Kukho umngcipheko omncinci kakhulu wokopha okuncinci, ukukrweleka, kunye nosulelo lwesibeleko. Kukwakho nomngcipheko ongaqhelekanga kakhulu wokuphuma kwesisu (malunga nomnye kwi-100 abane-CVS, ngaphantsi komnye kwi-200 abane-amniocentesis).
Ugqirha wakho uza kukuchazela ezi ngozi ngokweenkcukacha.
Kuthatha ixesha elingakanani ukufumana iziphumo? Zithetha ukuthini iziphumo?
Kudla ngokuthatha iiveki ezininzi ukuba iziphumo zovavanyo zibuye. Buza ugqirha wakho ngeli xesha.
Ukuba isiphumo "singaqhelekanga," kuthetha ukuba kukho utshintsho kwiichromosomes zakho okanye zomntwana wakho. Oku kunokunceda ekuchongeni ezinye iimeko zemfuza. Umzekelo:
- I-Down Syndrome (i-Down Syndrome okanye i-Trisomy 21): Imeko ebangela ukulibaziseka ekuphuhlisweni kwengqondo nasekukhuleni komzimba.
- I-Edwards Syndrome (i-Edwards Syndrome okanye i-Trisomy 18): Imeko ebangela iingxaki ezinkulu kwimiphunga, kwizintso nakwintliziyo.
- I-Patau Syndrome: Imeko ebonakaliswa kukungakwazi ukukhula kakuhle kunye nobunzima obuphantsi bokuzalwa esibelekweni.
- I-Turner Syndrome: Imeko ethintela ukuphuhliswa kweempawu zesondo kumantombazana.
Eyona nto ibalulekileyo kukuba le ngxelo yeziphumo inokuba nzima kuwe ukuyiqonda wedwa. Ke ngoko, thetha nogqirha wakho kuphela malunga neziphumo kunye namanyathelo alandelayo . Uza kukuchazela yonke into aze akunike ulwalathiso olufunekayo.
Umyalezo Wokuya Ekhaya
- Uvavanyo lwe-karyotype luvavanyo oluthatha "umfanekiso" wee-chromosomes zakho kwaye lujonge naziphi na iingxaki.
- Oku kunceda ekuchongeni iingxaki zokuzala, ezinye iintlobo zomhlaza, kunye neengxaki zemfuza kumntwana osesibelekweni.
- Olu vavanyo lungenziwa kusetyenziswa iindlela ezahlukeneyo, ezifana nesampuli yegazi, isampuli yomongo wethambo, okanye ulwelo lwe-cerebrospinal.
- Ngaphambi kokuba wenze olu vavanyo, kubalulekile ukuxoxa nogqirha wakho ngeengenelo, iingxaki kunye neengozi.
- Kubaluleke kakhulu ukufuna iingcebiso zonyango kunye neengcebiso ukuze uqonde iziphumo kunye nokulawula uxinzelelo oluhambelana nazo.
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