Ingaba unokuba ngumthwali weenqwelo-moya? Masithethe 'ngokuHlola abathwali'!

Ngaba uceba ukuqala usapho? Okanye sele ulindele umntwana? Ngoko ke ngokuqinisekileyo kufuneka uqaphele olu vavanyo lubizwa ngokuba yi-'Carrier Screening'. Oku kunokukunceda ufumane kwangaphambili malunga nokuba kunokwenzeka ukudlulisela izifo ezithile zofuzo kumntwana wakho ngawe. Makhe sithethe ngale nto ngokweenkcukacha ezithe vetshe, akunjalo? Oku kuya kukunceda wenze izigqibo ezibalulekileyo malunga nosapho lwakho.

Yintoni kanye kanye 'umthwali'?

Ngamafutshane, 'umthwali' ngumntu onotshintsho oluncinci kwijini , okanye masithi uhlobo oluthile lwesifo, emzimbeni wakho olunxulunyaniswa nemeko ethile yempilo. Kodwa okumangalisayo kukuba, uninzi lwexesha, aba bathwali ababonisi zimpawu okanye iimpawu zesifo. Isizathu soku kukuba sineekopi ezimbini zejini nganye, enye evela kumama wethu kunye nenye evela kubaba wethu. Okwenzekayo kumthwali kukuba nangona enye ikopi inesiphene, enye ikopi ephilileyo iyayicinezela impembelelo yayo. Ngoko ke awukhuli esi sifo. Nangona kunjalo, kukho ithuba lokuba umntwana wakho adlulisele esi siphene sejini, ngakumbi ukuba iqabane lakho nalo likwangumthwali wesifo esifanayo.

Xa uvavanywa olu vavanyo, iziphumo zigcinwa ziyimfihlo ngokupheleleyo kwiirekhodi zakho zonyango. Akukho mntu unokukunika olo lwazi ngaphandle kwemvume yakho. Kwakhona, ngokomthetho, iinkampani zeinshorensi yezempilo okanye umqeshi wakho akanakukucalula kuba iziphumo zovavanyo lwemfuza olufana nolu aziqhelekanga, ingakumbi ukuba usempilweni.

Ukuhlolwa komthwali kudla ngokusetyenziswa ukuvavanya izifo ezibangelwa yi-autosomal recessive . Oku kunokuvakala njengegama lesayensi, kodwa ngokulula, ukuze umntwana abe nesifo, bobabini abazali kufuneka babe ngabathwali besifo. Oku kuthetha ukuba bobabini abazali kufuneka babe nekopi enye yejini enesiphene. Abantu abaninzi abazi nokuba bangabathwali, kuba akukho mntu kusapho lwabo onokuba nesifo.

Ukongeza, kukwakho neqela leemeko ezibizwa ngokuba yi-'X-linked' . Ezi zidibene ne-X chromosome. Ngokwesiqhelo, umntu obhinqileyo (oqhele ukuba yi-XX) unokuba ngumthwali wale meko. Kodwa zihlala zineempawu ezimbalwa okanye zingabi nazo kwaphela. Oku kungenxa yokuba zine-X chromosomes ezimbini. Ukuba kukho ingxaki kwenye, enye iyayilawula. 'Fragile X syndrome' yenye yeemeko ezinjalo 'X-linked', kwaye idla ngokubandakanywa kwiiphaneli 'zovavanyo lweCarrier'.

Olu vavanyo lwenziwa nini?

Ukuba ucinga ngokuba nomntwana, licebo elihle ukwenza olu 'Hlolo loMthwali'. Enyanisweni , kungcono ukwenza olu vavanyo ngaphambi kokuba ukhulelwe.Emva koko unokwazi kwangaphambili ukuba kunokwenzeka kangakanani ukuba abantwana bakho bexesha elizayo babe nesifo esithile semfuza. Xa uvavanywa ngale ndlela, unexesha lokucinga ngeendlela ezahlukeneyo zokuqala usapho. Umzekelo:

• Ukwamkelwa komntwana sisenzo sokukhulisa umntwana.
• Ukujika kwindlela 'yokuchumisa nge-in vitro' (IVF - ukuchumisa nge-in vitro) kusetyenziswa amaqanda okanye isidoda esinikelwayo.
• Uvavanyo lwemfuza ngaphambi kokufakelwa: Oku kuquka ukuvavanya ukwakheka kwemfuza yeembumba ezenziwe ngamaqanda kunye nesidoda sesibini ngaphambi kokuba zifakwe esibelekweni sikamama.

Ukuba awukwazi ukwenza oku ngaphambi kokuba ukhulelwe, ugqirha wakho unokucebisa ukuba wenze uvavanyo lokuhlolwa komthwali ngexesha le-trimester yokuqala . Nje ukuba wenze olu vavanyo ngexesha lokukhulelwa, ungacwangcisa ukhathalelo lwakho lwempilo yonke imihla yokukhulelwa kwakho. Ungadinga novavanyo olongezelelweyo, olufana ne -amniocentesis okanye i-chorionic villus sampling (CVS) , ukuze kuqinisekiswe ngakumbi impilo yomntwana. Ugqirha wakho unokucwangcisa naziphi na iimfuno ezikhethekileyo umntwana wakho anokuba nazo emva kokuzalwa.

Ngubani ngokwenene olu vavanyo olufunekayo?

Enyanisweni, licebo elihle ukuba isibini ngasinye esicinga ngokuqala usapho sicinge ngokuhlolwa kwabantwana abanesifo. Ngokubanzi, kuqhelekile ukuba umntu abe nesifo esithile semfuza. Amaqela amaninzi eentlanga anokuba nesifo esinye semfuza.

Abantu abalandelayo ngokukodwa banokuba semngciphekweni omkhulu wokuba ne-HIV:

• Ukuba umntu kusapho (nokuba ngumntwana wangaphambili okanye isalamane) unesifo semfuza, nokuba sisifo esibangelwa yi-autosomal recessive okanye isifo esidityaniswe ne-X.
• Okanye, ukuba kukho umntu kusapho osele esaziwa ukuba unesifo esibangelwa lufuzo.

Ngubani owenza olu vavanyo lokuhlola abathwali?

Ungenza olu vavanyo 'lokuHlola abathwali' ngaba gqirha:

• Ingcali yokuzala.
• Umcebisi ngezemfuza okanye ingcali yezemfuza kwezonyango.
• Ingcali yokubelekisa kunye ne-gynecologist (i-OB/GYN).

Zeziphi iintlobo zezifo ezihlolwayo ngokuhlolwa kwesifo somthwali?

Ukuhlolwa komthwali kudla ngokujonga iimeko ezimbalwa eziqhelekileyo zokuxinana kwe-autosomal. Ezinye zezi ziquka:

• Icystic fibrosis
• Isifo seFragile X (esi sisifo esidityaniswe ne-X)
• Isifo seSickle cell
• Isifo sikaTay-Sachs
• I-Thalassemia

Yintoni i-Expanded Carrier Testing?

Ukuba uyafuna, ungaba 'novavanyo olunwetshiweyo lokuthwala' . Olu vavanyo luvavanya uluhlu olubanzi lwezifo kunovavanyo olulinganiselweyo olukhankanyiweyo ngaphambili. Ngoku, oogqirha badla ngokucebisa olu vavanyo lunwetshiweyo. Lunokugubungela ezinye izifo ezininzi, mhlawumbi amashumi amaninzi, ukongeza kwizifo ezikhankanyiweyo apha ngasentla. Nazi ezinye imizekelo:

• 'I-Congenital adrenal hyperplasia (CAH)' `(I-Congenital adrenal hyperplasia (CAH))`
• Ukuwohloka kwemisipha yomgogodla
• I-Turner syndrome
• Isifo sikaWilson

Yintoni i-Targeted Carrier Screening?

Khawucinge ukuba kukho izifo ezithile zemfuza kusapho lwakho. Kwimeko enjalo, ukuba awufuni ukwenza uvavanyo olwandisiweyo lwabathwali, ungenza 'uvavanyo olujoliswe kubathwali' . Oko kukuthi, sijonga kuphela ezo zifo zithile zibalulekileyo kusapho lwakho.

Kwakhona, ezinye iimeko zinokubachaphazela ngakumbi abantu abanomnombo othile. Ukuba kunjalo kuwe, ugqirha wakho unokucebisa 'iphaneli yokuhlolwa kwabathwali' egubungela ezo meko kuphela.

Lwenziwa njani olu vavanyo (uHlolo lwabathwali)?

Uvavanyo loMthwali lufuna isampuli encinci yegazi lakho, amathe, okanye iswab esidleleni sakho . Ngokuxhomekeke kwiimfuno zakho, ugqirha wakho uza kukhetha enye yezi ndlela:

• Uvavanyo lwegazi.
• Uvavanyo lwamathe.
• Ukuthatha isampuli yethishu ngaphakathi esidleleni nge-swab (Uvavanyo lwethishu).

Ngaba kufuneka ulungiselele oku ngokukodwa?

Ukuba uvavanywa amathe okanye uvavanywa izicubu, ungacelwa ukuba uyeke ukutya okanye ukusela ixesha elifutshane ngaphambi kovavanyo. Ngaphandle koko, akukho lungiselelo likhethekileyo lidla ngokufuneka ukuze kuhlolwe umntu onesifo.

Kwenzeka ntoni emva kovavanyo? Xa iziphumo zifunyenwe?

Ugqirha wakho uza kuthumela isampuli yegazi, amathe, okanye izicubu ezivela kuwe ziye kwilebhu ekhethekileyo yemfuza ukuze zihlalutywe. Ngokuxhomekeke kuhlobo lovavanyo olwenzileyo, uza kufumana iziphumo kwiintsuku ezimbalwa okanye kwiiveki ezimbalwa .

Emva kokuba ufumene iziphumo zakho, ugqirha wakho angakuthumela kumcebisi wezemfuza . Aba ngabantu abafumene uqeqesho olukhethekileyo kwiimeko zemfuza. Banoku:

• Phendula nayiphi na imibuzo onayo malunga nokuba ngumthengisi.
• Ukuba unqwenela, nceda unikeze ulwazi olufunekayo ukuze wazise usapho lwakho malunga nemeko yakho yenkampani.
• Nika ulwazi malunga neendlela zokucwangcisa usapho.
• Thumela kwabanye ababoneleli ngeenkonzo zempilo ukuba kuyimfuneko.

Ngaba kukho naziphi na iingozi ngolu vavanyo?

Xa utsalwa igazi lakho, usenokuva intlungu encinci xa kufakwa inaliti, okanye uzive unamanxeba amancinci emva koko. Oku kuqhelekile.

Ngaphambi kokuba uhlolwe umntu onesifo, thetha nogqirha wakho malunga neenzuzo kunye nemida yolu vavanyo. Umzekelo, kukho ithuba elincinci lokuba ungabi ngulowo unesifo kuphela, kodwa unokuba nohlobo oluncinci lwesifo (oku kunqabile). Abanye abantu banokuziva bexinezelekile okanye bexhalabile malunga nolu vavanyo. Thetha nogqirha wakho malunga noloyiko lwakho kunye nezinto ezikuxhalabisayo. Fumana uncedo lwempilo yengqondo ukuba kuyimfuneko.

Zithini iziphumo?

• Iziphumo ezingezizo: Oku kuthetha ukuba uvavanyo aluzange lubone naziphi na iinguqulelo zemfuza ezaziwayo emzimbeni wakho. Kwimeko enjalo, umngcipheko wokuba abantwana bakho bafumane isifo semfuza uphantsi kakhulu. Nangona kunjalo, uhlolo lwabathwali alunakukwazi ukubona i-100% yabathwali besifo ngasinye. Ke ngoko, iziphumo ezingezizo aziqinisekisi ukuba abantwana bakho abayi kuba naso nasiphi na isifo semfuza .

• Iziphumo ezilungileyo: Ukuba uvavanyo lwakho lwe-Carrier Screening luveza iziphumo ezilungileyo, oko kuthetha ukuba ungumthwali wesifo esinye okanye ezingaphezulu zemfuza. Ukuba iziphumo zakho zilungile, kuya kufuneka ucinge ngokuthatha iqabane lakho lokuzala livavanywe .

Khawuthelekelele ukuba wena neqabane lakho nobabini ninesimo esifanayo se-autosomal recessive . Emva koko umntwana ngamnye eninaye unethuba elilandelayo:

• Kukho ithuba elingama-25% (inye kwabane) lokufumana zombini ii-genes ezineziphene (esinye esivela kumama nesinye esivela kutata) kwaye uzalwe enale meko .
• Kukho ithuba elingama-50% (inye kwababini) lokufumana i-gene enye enesiphako (kumama okanye kutata) kwaye ibe yi-carrier . Kodwa loo mntwana akayi kuba nesi sifo.
• Kukho ithuba eliyi-25% (inye kwezine) lokufumana zombini ii-genes eziphilileyo, ekubeni zingekho ngumthwali okanye zingenaso esi sifo .

Kuthatha ixesha elingakanani ukwazi iziphumo?

Uvavanyo lwemfuza ludla ngokuthatha iintsuku ezimbalwa ukuya kwiiveki ezimbalwa ukugqitywa. Buza ugqirha wakho ukuba ungalindela nini iziphumo zakho.

Ngaba kufuneka ndiphinde ndiye kugqirha?

Nxibelelana nogqirha wakho kwezi meko zilandelayo:

• Ukuba awufumani ziphumo ngaphakathi kwexesha enivumelene ngalo.
• Nangona sele uzifumene iziphumo zakho, usenemibuzo ngazo.
• Ukuba ufuna ukuthetha ngeendlela onokukhetha kuzo ukuqala usapho.

Okokugqibela, ezona zinto zibalulekileyo ekufuneka uzikhumbule

Ngoko ke, ndiyathemba ukuba ngoku uluqonda ngcono olu vavanyo olubizwa ngokuba yi-'Carrier Screening'. Eyona nto inkulu oza kuyifumana koku kukuba uza kuba namandla okwenza izigqibo ezinolwazi malunga nomntwana wakho ozayo. Kwakhona, mhlawumbi oku kuya kukunceda ukususa naluphi na uloyiko kunye namathandabuzo onokuba nawo kwaye ufumane uxolo lwengqondo .

Khumbula, ungaze ungathandabuzi ukuthetha nogqirha wakho, kwaye ukuba kuyimfuneko, nomcebisi wezemfuza, malunga nendlela yokuqhubeka nezi ziphumo. Impilo yakho yengqondo nayo ibaluleke kakhulu, ngoko funa inkxaso kuloo nto ukuba uyayifuna. Konke oku kungenxa yosapho olusempilweni nolonwabileyo.

Uvavanyo lomthwali wezakhi zofuzo , ukuhlolwa komthwali, izifo ezidluliselwa kwilifa, uvavanyo lwezakhi zofuzo, ukukhulelwa, ucwangciso-ntsapho, iingcebiso ngezakhi zofuzo