Sonke siyazi ukuba abantwana bazuza izinto ezifana nenkangeleko kunye netalente kubazali babo. Ngokufanayo, ngamanye amaxesha, ngaphandle kokuba siqaphele, abantwana bethu banokuzuza nemfuza ezinxulumene nezifo ezithile. Ezinye zezi zifo zixhaphake kakhulu phakathi kwamaqela athile eentlanga ehlabathini. Namhlanje sithetha ngovavanyo olunjalo lwemfuza. Oku kubaluleke kakhulu kubantu bomnombo wamaJuda aseAshkenazi, abavela kwiindawo ezithile zaseYurophu.
Ngamafutshane, yintoni le Ashkenazi Jewish Genetic Panel?
Okokuqala, makhe sijonge ukuba ngoobani la maJuda ase-Ashkenazi. NgamaJuda avela kumazwe aseMbindini okanye eMpuma Yurophu. Izifundo zifumanise ukuba olu luntu lunezifo ezithile zemfuza ezingaphezulu komndilili.
Kubaluleke kakhulu ukuqonda igama elithi "umthwali" apha. Khawuthelekelele ukuba une-gene yesifo esithile emzimbeni wakho, kodwa awunazo iimpawu zeso sifo. Uphilile. Kodwa ungadlulisela loo gene kumntwana wakho. Yiloo nto siyibiza ngokuba "ngumthwali" womntu onjalo.
Okubangel’ umdla kukuba, kufunyaniswe ukuba malunga nomntu omnye kwabane abazalwa kwi-Ashkenazi basenokuba ngabathwali besi sifo semfuza. Ngoko ke, eli candelo lovavanyo lwemfuza lenzelwe ukuqikelela umngcipheko wokuba ngabathwali.
Zeziphi izifo eziphambili ezijongwa lolu vavanyo?
Olu vavanyo lwemfuza lujolise kwizifo ezininzi ezinzulu ezinokuchaphazela ubomi bomntwana kakhulu. Nangona ezinye zezi zineendlela zonyango, azinyangeki ngokupheleleyo. Kwezinye iimeko, ezi zinokubulala.
Makhe sijonge ezinye zezifo eziphambili kwitheyibhile engezantsi.
| Igama leSifo | Kwenzeka ntoni ngale nto? (Ingcaciso elula) |
|---|---|
| Isifo seBloom | Umngcipheko wokuba nomhlaza uphezulu kakhulu. Iimpawu ziquka umzimba omfutshane, ilizwi elivakalayo, kunye nolusu olutsha lula elangeni. |
| Isifo saseCanavan | Isifo esichaphazela inkqubo yemithambo-luvo ephakathi. Ukuxhuzula kunye nokuphazamiseka kwengqondo kunokwenzeka. |
| Icystic fibrosis | Ichaphazela kakhulu inkqubo yokuphefumla neyesisu, nto leyo ebangela iimpawu ezinzima ezifana nokuxinana kwesifuba kunye nokukhwehlela rhoqo. |
| I-Fanconi anemia | Esi sisifo esinxulumene negazi. Kukho umngcipheko okhulayo wokuba nomhlaza ofana ne-leukemia. |
| Isifo seGaucher | Iingxaki zesibindi kunye ne-spleen, i-anemia, ukopha, kunye nentlungu yamathambo zinokubakho. |
| Isifo sikaNiemann-Pick (Uhlobo A) | Iphazamisa amandla omzimba okuqhekeza amafutha kunye ne-cholesterol. Iimpawu ziquka ukwanda kwesibindi kunye ne-spleen kwiintsana ezincinci. Ingonakalisa nenkqubo yemithambo-luvo. |
| Isifo sikaTay-Sachs | Isifo esonakalisa inkqubo yemithambo-luvo. Sinokubangela ukuxhuzula, ukulahleka kombono nokuva, ubuthathaka bemisipha, kunye nobunzima bokuginya. |
Ukongeza, kwenziwa uvavanyo lwezinye izifo ezininzi ezifana neFamilial Dysautonomia, iMucolipidosis type IV, iGlycogen Storage 1a, kunye nesifo seMaple syrup urine.
Ngubani ofanele abhale olu vavanyo? Liliphi ixesha elifanelekileyo?
Ngoku usenokuba uzibuza, "Ngaba nam kufuneka ndilwenze olu vavanyo?" Olu vavanyo lubaluleke kakhulu ukuba wena, iqabane lakho, okanye nobabini nivela kwimvelaphi yamaJuda angama-Ashkenazi .
Elona xesha lilungileyo lokwenza olu vavanyo kungaphambi kokuba ucebe nokuba nomntwana.
Kutheni kunjalo? Kuba ke ngoko uya kuba nexesha elaneleyo lokufunda ngeziphumo, ucinge ngazo, kwaye uxoxe kwaye uthathe isigqibo sokuba zeziphi izigqibo oza kuzithatha ngaphandle koxinzelelo.
Lwenziwa njani uvavanyo kwaye zithetha ukuthini iziphumo?
Olu luvavanyo olulula kakhulu. Ngamanye amaxesha kuthathwa isampuli yegazi , ngamanye amaxesha kusetyenziswa isampuli yamathe . Ugqirha wakho angakuthumela kolu vavanyo. Kudla ngokuthatha iiveki ezimbalwa ukuba iziphumo zibuye emva kokuba unike isampuli.
Ngoku makhe sibone ukuba iziphumo zithini.
- Ukuba iziphumo zithi azikho: Oku kuthetha ukuba awungomntu ophethe naziphi na izifo ezivavanyiweyo. Ezi ziindaba ezimnandi kakhulu. Akukho nto imbi onokuyenza.
- Ukuba liqabane elinye kuphela elinomthwali: Ukuba nobabini nivavanyiwe kwaye mnye kuphela kuni onomthwali, umntwana wakho akakho semngciphekweni wokufumana esi sifo. Nangona kunjalo, kukho amathuba angama-50% okuba umntwana naye abe ngumthwali. Oku kuthetha ukuba umntwana angadlulisela esi jini kumntwana wakhe kwixesha elizayo.
- Ukuba amaqabane omabini anesi sifo: Kulapho kufuneka sikhathazeke kakhulu khona. Ukuba nobabini ninesi sifo esifanayo, ngexesha ngalinye lokukhulelwa, kukho umngcipheko we-25%, okanye omnye kwabane, wokuba umntwana afumane esi sifo . Kwakhona, kukho ithuba le-50% lokuba umntwana abe nesi sifo kunye nethuba le-25% lokuba umntwana angachaphazeleki.
Ukuba sobabini singabathwali beenkonzo, zeziphi iindlela esinokukhetha kuzo?
Kuqhelekile ukuba uzive ulusizi kwaye uxhalabile xa ufumana iziphumo ezinje. Kodwa eyona nto ibalulekileyo kukwazi ukuba awuwedwa kwaye uneendlela ezininzi onokukhetha kuzo. Kubalulekile ukuthetha nogqirha wakho ngazo zonke ezi zinto.
Nazi ezinye zeendlela eziphambili onokukhetha kuzo:
1. Ukusebenzisa amaqanda okanye isidoda esinikelwayo: Amaqanda okanye isidoda esifunyenwe kumntu ongengomthwali wesifo sinokusetyenziselwa ukukhulelwa umntwana.
2. Ukwamkelwa komntwana: Ukuthatha isigqibo sokwamkelwa komntwana lolunye ukhetho olufanelekileyo.
3. Ukugqiba ekubeni ungabi nabantwana: Ezinye izibini zisenokugqiba ekubeni zingabi nabantwana kuba zingafuni ukuthatha le ngozi.
4. Ukuxilongwa Kwemfuza Ngaphambi Kokufakelwa Kwesibeleko (PGD): Oku kwenziwa ngetekhnoloji ye-IVF. Ngamafutshane, amaqanda kamama kunye nesidoda sikatata zidityaniswe kwilebhu ukwenza iimbumba ezininzi. Emva koko, nganye kwezo zimbumba iyavavanywa, kwaye kuphela iimbumba eziphilileyo ezingenayo i-gene yesifo ezikhethwayo kwaye zifakwe kwisibeleko sikamama.
5. Ukuhlolwa ngexesha lokukhulelwa: Abanye abantu abathandanayo bakhetha ukuvavanya umntwana wabo kwiinyanga zokuqala zokukhulelwa, emva kokuba bekhulelwe ngendlela eqhelekileyo. Oku kunokunceda ekuqinisekiseni ukuba umntwana uchaphazelekile sesi sifo okanye akunjalo.
Kwimeko enjalo , umcebisi wezemfuza, oko kuthetha ukuba kubaluleke kakhulu ukubona umcebisi ofumene uqeqesho olukhethekileyo kwizifo zofuzo kunye novavanyo. Banokuchaza ngokucacileyo ukuba zeziphi iindlela ezifanelekileyo kuwe kunye nento omawuyenze ngokulandelayo, ngokusekelwe kwiziphumo zakho.
Umyalezo Wokuya Ekhaya
- Izifo ezithile zemfuza zixhaphake kakhulu phakathi kwamaqela athile eentlanga, njengamaJuda aseAshkenazi.
- Ukuba "ngumthwali" kuthetha ukuba awunaso esi sifo, kodwa une-gene yesifo emzimbeni wakho. Ungayidlulisela kumntwana wakho.
- Ukuba bobabini abazali banesimo esifanayo, kukho umngcipheko we-25% (umnye kwabane) wokuba umntwana afumane eso simo rhoqo xa ekhulelwe.
- Ixesha elifanelekileyo lovavanyo lwemfuza olufana nolu ngaphambi kokuba umntwana akhulelwe.
- Ukuba wena neqabane lakho nifunyaniswe ukuba ninesi sifo, kubalulekile ukuba ningoyiki nize nixoxe ngeendlela eninokukhetha kuzo nogqirha wenu kunye nomcebisi wezemfuza.
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