Oko kufuneka ukwazi ngaphambi kokuba ube nomntwana: Uvavanyo lwe-Carrier ngokufutshane

Ngaba wena neqabane lakho nicinga ngokuba nomntwana? Okanye sele nikhulelwe? Ngoko ke oko siza kuthetha ngako namhlanje kuya kuba yinto ebaluleke kakhulu kuni. Ngamanye amaxesha, nokuba siphilile ngokupheleleyo, sinokuba notshintsho olufihlakeleyo emizimbeni yethu, oko kukuthi, kwiijini zethu, ezinxulumene nezifo ezithile. Kulapho kuthiwa 'singabathwali' besifo esithile. Namhlanje siza kuthetha 'ngokuhlolwa kwabathwali', okwenziwa ukuze kufunyaniswe ukuba singabathwali na.

Ngamafutshane, kuthetha ukuthini ukuba 'ngumthwali'?

Cinga ngako oku, kuzo zonke iimpawu emzimbeni wethu (umz. umbala weenwele, umbala wamehlo), sineekopi ezimbini zejini. Enye siyifumana kumama wethu, enye isuka kutata wethu. 'Umthwali' ngumntu onesiphako okanye utshintsho oluncinci (utshintsho olubangelwa yi-pathogenic) kwenye yeekopi ezimbini zejini ezinxulumene nesifo esithile.

Kodwa, ngenxa yokuba enye ikopi yejini iphilile, 'iyawuthoba' umsebenzi walowo unesiphako. Ngoko awubonisi zimpawu. Uphilile. Kodwa unako ukudlulisela le jini inesiphako ebantwaneni bakho. Yiloo nto ubizwa ngokuba 'ngumthwali'.

Uninzi lwexesha, olu vavanyo lwabathwali lukhangela izifo ezizuzwa njengelifa ngendlela 'yokugulisa umzimba' . Oku kuthetha ukuba ukuze umntwana abe nesi sifo, bobabini abazali kufuneka babe ngabathwali besifo. Kwiimeko ezininzi, akukho mntu waziyo ukuba ungumthwali. Oku kungenxa yokuba akukho mntu kusapho unokuba nesi sifo.

Ukongeza, kukho udidi lwezifo zemfuza ezibizwa ngokuba ziimeko 'ezidityanisiweyo' . Ezi zizuzwa njengelifa ngeechromosomes zesini. Ezi zikwavavanywa naziimvavanyo ezithile zokuthwala.

Olu vavanyo lwenziwa nini? Kutheni lubalulekile?

Elona xesha lifanelekileyo nelifanelekileyo lokwenza olu vavanyo kungaphambi kokuba ucebe ukukhulelwa. Ngale ndlela, unexesha elaneleyo lokwenza izigqibo ngekamva lakho ngokusekelwe kwiziphumo, ngaphandle kokukhathazeka kwaye unoxolo lwengqondo.

Khawucinge nje, ukuba nifumanise ukuba nobabini ninezifo ezifanayo, ninokucinga ngeendlela ezahlukeneyo.

• Ukudala umntwana kusetyenziswa iqanda okanye isidoda somnye umntu (i-IVF kusetyenziswa amaqanda okanye isidoda somnye umntu).
• Uvavanyo lwemfuza ngaphambi kokufakelwa kweqanda lubandakanya ukuvavanya iimfuza zeqanda lombungu kunye nokufaka kuphela iqanda eliphilileyo kwisibeleko.
• Ukwamkelwa komntwana.

Ukuba awukwazanga ukwenza olu vavanyo ngaphambi kokuba ukhulelwe, usenokwenza oko kwikota yokuqala yokukhulelwa kwakho. Nangona kunjalo, uya kuba nethuba lokucwangcisa ukukhulelwa kwakho kwixesha elizayo ngokusekelwe kwiziphumo kwaye, ukuba kuyimfuneko, wenze ezinye iimvavanyo, ezifana ne -amniocentesis, ukuqinisekisa imeko yomntwana.

Lolu vavanyo lukhangela izifo ezinjani?

Uvavanyo lwe-carrier lujonga izifo ezininzi eziqhelekileyo zemfuza. Ezinye zazo zezi:

• Icystic fibrosis
• Isifo seSickle cell
• I-Thalassemia - Le yimeko eqhelekileyo eSri Lanka.
• Isifo sikaTay-Sachs
• Isifo seFragile X

Ukongeza kwezi, ngoku kukho iimvavanyo ezibizwa ngokuba yi -'Expanded carrier testing' ezinokuvavanya ezinye izifo ezininzi ngaxeshanye. Ukuba umntu kusapho lwakho unesifo esithile sofuzo, ungenza uvavanyo olujoliswe kweso sifo (Targeted carrier screening). Ungaxoxa ngazo zonke ezi zinto nogqirha wakho uze wenze isigqibo.

Uvavanyo lwenziwa njani? Ingaba yinto enkulu?

Olu vavanyo ludla ngokwenziwa kusetyenziswa enye yezi ndlela zilandelayo:

• Uvavanyo lwegazi: Kuthathwa igazi elincinci engalweni yakho.
• Uvavanyo lwamathe: Inani elincinci lamathe akho liqokelelwa kwityhubhu.
• Uvavanyo lwethishu: Kusetyenziswa iswabhu encinci ukufunxa ingaphakathi lesidlele sakho .

Ukuba kuthathwa isampuli kumathe okanye kwi-cheek swab, ungacetyiswa ukuba uyeke ukutya okanye ukusela ixesha elifutshane ngaphambi kovavanyo. Ngaphandle koko, akukho mfuneko yokulungiselela okukhethekileyo.

Zithini iziphumo? Siyiqonda njani loo nto?

Isampulu yakho ithunyelwa kwilabhoratri ekhethekileyo yemfuza ukuze ivavanywe. Kungathatha iintsuku okanye iiveki ezimbalwa ukuba iziphumo zibuye.

Ukuba isiphumo 'sibi'...

Oku kuthetha ukuba iziphene zemfuza ezinxulumene nezifo ozivavanyelwe zona azifumanekanga kuwe. Oku kuthetha ukuba umngcipheko wokuba abantwana bakho bafumane ezo zifo uphantsi kakhulu. Kodwa akunakutshiwo ukuba yi-100% zero, kuba ezi mvavanyo zisenokungakwazi ukubamba zonke iziphene zemfuza. Kodwa ukwazi ukuba umngcipheko uphantsi kakhulu kunokukunika ukuphumla okukhulu.

Ukuba isiphumo 'Silungile'...

Oku kuthetha ukuba unesifo esinye okanye ezingaphezulu zemfuza. Musa ukoyika xa usiva oku. Oku akuthethi ukuba unesifo. Usesempilweni.

Kodwa eyona nto ibalulekileyo omawuyenze ngeli xesha kukuvavanya isifo neqabane lakho.

Kuthekani ukuba nobabini ninezifo ezifanayo?

Kulapho kufuneka sigxile khona. Ukuba wena neqabane lakho nobabini ninezifo ezifanayo ze-autosomal recessive disease, nantsi amathuba okuba umntwana ngamnye eninaye achaphazeleke:

Wakuba ufumene ezi ziphumo, ugqirha wakho uza kukuthumela kwiNgcebiso yezeMvelo , umntu oqeqeshwe ngokukodwa nolwazi ngezifo zezeMvelo. Uza kukuchazela ngakumbi imeko, aphendule imibuzo yakho, aze axoxe ngamanyathelo alandelayo anokwenzeka.

Ngaba kukho naziphi na iingozi kolu vavanyo?

Ngokwasemzimbeni, akukho mingcipheko mikhulu ngaphandle kokuva intlungu encinci xa kutsalwa igazi.

Kodwa kufuneka ucinge nangecala lengqondo. Abanye abantu banokuziva bexinezelekile kwaye bexhalabile malunga nokuvavanywa nokufumana iziphumo. Kwaye kunqabile kakhulu, unokufumanisa ukuba awungomntu othwala esi sifo kuphela, kodwa ukwanaso nohlobo oluncinci kakhulu lwesi sifo. Ngoko ke thetha ngokukhululekileyo ngayo yonke le nto nogqirha wakho ngaphambi kovavanyo. Ukuba uziva ungakhululekanga ngokweemvakalelo, ungathandabuzi ukuxelela ugqirha wakho ngayo.