Ingabe ungaba ngumthwali wenethiwekhi? Ake sixoxe 'ngokuhlola abathwali'!

Ingabe uhlela ukuqala umndeni? Noma usuvele ulindele umntwana? Ngakho-ke kufanele uqaphele lolu vivinyo olubizwa ngokuthi 'Ukuhlolwa Kokuthwala'. Lokhu kungakusiza ukuthi uthole kusenesikhathi mayelana namathuba okudlulisela izifo ezithile zofuzo enganeni yakho ngawe. Ake sixoxe ngalokhu ngemininingwane ethe xaxa, akunjalo? Lokhu kuzokusiza ukuthi wenze izinqumo ezibalulekile ngomndeni wakho.

Yini ngempela 'isithwali'?

Kalula nje, 'umthwali' ngumuntu onoshintsho oluncane ku- gene , noma ake sithi uhlobo oluthile lwe-pathogenic, emzimbeni wakho oluhlotshaniswa nesimo esithile sempilo. Kodwa ngokumangazayo, isikhathi esiningi, laba bathwali ababonisi zimpawu noma izimpawu zesifo. Isizathu salokhu ukuthi sinamakhophi amabili e-gene ngayinye, eyodwa evela kumama wethu kanye nenye evela kubaba wethu. Okwenzekayo ku-carrier ukuthi yize ikhophi eyodwa inesici, enye ikhophi enempilo iyayicindezela imiphumela yaso. Ngakho-ke awubi naso lesi sifo. Kodwa-ke, kunethuba lokuthi ingane yakho izodlulisela lesi sici sezakhi zofuzo, ikakhulukazi uma umlingani wakho naye engumthwali wesifo esifanayo.

Uma wenza lokhu kuhlolwa, imiphumela igcinwa iyimfihlo ngokuphelele kumarekhodi akho ezokwelapha. Akekho ongakunikeza lolo lwazi ngaphandle kwemvume yakho. Futhi, ngokomthetho, izinkampani zomshuwalense wezempilo noma umqashi wakho ngeke bakubandlulule ngoba umphumela wokuhlolwa kofuzo onjengalona awujwayelekile, ikakhulukazi uma uphilile.

Ukuhlolwa kwesifo sofuba kuvame ukusetshenziselwa ukuhlola izifo ezibangelwa yi-autosomal recessive . Lokhu kungase kuzwakale njengegama lesayensi, kodwa ngamazwi alula, ukuze ingane ibe nalesi sifo, bobabili abazali kumele babe ngabathwali balesi sifo. Lokhu kusho ukuthi bobabili abazali kumele babe nekhophi eyodwa yesakhi sofuzo esinephutha. Abantu abaningi abazi nokuthi bangabathwali baso, ngoba akekho emndenini wabo ongase abe nalesi sifo.

Ngaphezu kwalokho, kukhona neqembu lezimo ezibizwa ngokuthi 'X-linked' . Lezi zixhunywe kwi-chromosome X. Ngokuvamile, owesifazane (ngokuvamile u-XX) angaba ngumthwali walesi simo. Kodwa ngokuvamile banezimpawu ezimbalwa noma abanazo nhlobo. Lokhu kungenxa yokuthi banama-chromosome amabili e-X. Uma kunenkinga ngeyodwa, enye iyayilawula. 'I-Fragile X syndrome' ingenye yezinkinga ezinjalo 'X-linked', futhi ivame ukufakwa kumaphaneli 'okuhlola abathwali'.

Lokhu kuhlolwa kwenkampani yenethiwekhi kwenziwa nini?

Uma ucabanga ngokuba nomntwana, kuwumqondo omuhle ukwenza lokhu 'Ukuhlolwa Kwabathwali'. Eqinisweni , kungcono ukwenza lokhu kuhlolwa ngaphambi kokuba ukhulelwe.. Khona-ke ungazi kusengaphambili ukuthi kungenzeka kangakanani ukuthi izingane zakho zesikhathi esizayo zizoba nesifo esithile sofuzo. Uma uhlolwa kulesi simo, unesikhathi sokucabanga ngezindlela ezahlukene zokuqala umndeni. Isibonelo:

• Ukutholwa kwengane kuyisenzo sokukhulisa ingane.
• Ukuphendukela endleleni 'yokuvundisa ngomchamo' (IVF - ukuvundisa ngomchamo) kusetshenziswa amaqanda noma isidoda esinikelayo.
• Ukuhlolwa kwezakhi zofuzo ngaphambi kokutshalwa: Lokhu kuhilela ukuhlola ukwakheka kwezakhi zofuzo zemibungu eyakhiwe ngamaqanda nesidoda sombhangqwana ngaphambi kokuba itshalwe esibelethweni sikamama.

Uma ungakwazi ukukwenza lokhu ngaphambi kokuba ukhulelwe, udokotela wakho angancoma ukuthi ube nokuhlolwa kokuhlolwa komthwali ngesikhathi se-trimester yokuqala . Uma usukwenzile lokhu kuhlolwa ngesikhathi sokukhulelwa, ungahlela ukunakekelwa kwempilo yakho yonke ingxenye esele yokukhulelwa kwakho. Ungadinga nokuhlolwa okwengeziwe, njenge -amniocentesis noma i-chorionic villus sampling (CVS) , ukuze kutholakale impilo yengane. Udokotela wakho angahlela nanoma yiziphi izidingo ezikhethekile ingane yakho engase ibe nazo ngemva kokuzalwa.

Ubani ngempela odinga lolu vivinyo?

Eqinisweni, kuwumqondo omuhle ukuthi umbhangqwana ngamunye ocabanga ngokuqala umndeni ucabangele ukuhlolwa kwabathwali. Sekukonke, kuvamile ukuthi umuntu abe nesifo esithile sofuzo. Amaqembu amaningi ezinhlanga anamathuba amaningi okuba nesifo esisodwa okungenani sofuzo.

Abantu abalandelayo ikakhulukazi bangase babe sengozini enkulu yokuba yi-carrier:

• Uma othile emndenini (kungaba ingane yangaphambilini noma isihlobo) enesifo sofuzo, kungakhathaliseki ukuthi yisifo esibangelwa yi-autosomal recessive noma isifo esixhunywe ku-X.
• Noma, uma othile emndenini esevele aziwa ukuthi unesifo esibangelwa ufuzo.

Ubani owenza lezi zivivinyo zokuhlola abathwali?

Ungenza lokhu kuhlolwa 'kokuHlola Abathwali' ngalaba odokotela:

• Uchwepheshe wezokuzala.
• Umeluleki wezakhi zofuzo noma isazi sezakhi zofuzo sezokwelapha.
• Udokotela wezifo zokubelethisa kanye nodokotela wezifo zabesifazane (i-OB/GYN).

Yiziphi izinhlobo zezifo ezihlolwa ngokuhlolwa kwenkampani ethwala igciwane?

Ukuhlolwa kwe-carrier kuvame ukubheka izimo ezimbalwa ezivamile ze-autosomal recessive. Ezinye zalezi zifo zifaka:

• I-cystic fibrosis
• I-Fragile X syndrome (lena i-X-linked)
• Isifo se-sickle cell
• Isifo sikaTay-Sachs
• I-Thalassemia

Kuyini Ukuhlolwa Kwesithwali Esinwetshiwe?

Uma ufuna, ungaba futhi 'nokuhlolwa kokuthwala okwandisiwe' . Lokhu kuhlola uhla olubanzi lwezifo kunokuhlolwa okulinganiselwe okukhulunywe ngakho ekuqaleni. Manje, odokotela bavame ukuncoma lokhu kuhlolwa okwandisiwe. Kungahlanganisa izifo eziningi, mhlawumbe eziningi, ngaphezu kwezifo ezishiwo ngenhla. Nazi ezinye izibonelo:

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

Kuyini Ukuhlolwa Kwesithwali Esiqondiwe?

Ake sithi kunezifo ezithile zofuzo emndenini wakho. Uma kunjalo, uma ungafuni ukwenza ukuhlolwa okunwetshiwe kwe-carrier, ungenza 'ukuhlolwa kwe-carrier okuqondiwe' . Okusho ukuthi, sibheka kuphela lezo zifo ezithile eziphathelene nomndeni wakho.

Futhi, ezinye izimo cishe zingathinta abantu abanozalo oluthile. Uma kunjalo kuwe, udokotela wakho angase asikisele 'iphaneli yokuhlola abathwali' ehlanganisa lezo zimo kuphela.

Kwenziwa kanjani lokhu kuhlolwa (Ukuhlolwa Kwabathwali)?

Ukuhlolwa Kwabathwali kudinga isampula encane yegazi lakho, amathe, noma i-swab yesihlathi sakho . Kuye ngezidingo zakho, udokotela wakho uzokhetha enye yalezi zindlela:

• Ukuhlolwa kwegazi.
• Ukuhlolwa kwamathe.
• Ukuthatha isampula yezicubu ngaphakathi kwesihlathi nge-swab (ukuhlolwa kwezicubu).

Ingabe udinga ukulungiselela lokhu ngqo?

Uma uhlolwa ngamathe noma ngezicubu, ungase ucelwe ukuthi uyeke ukudla noma ukuphuza isikhathi esifushane ngaphambi kokuhlolwa. Ngaphandle kwalokho, akudingeki ukulungiselela okukhethekile ukuze kuhlolwe abathwali begciwane.

Kwenzekani ngemva kokuhlolwa? Uma imiphumela itholwa?

Udokotela wakho uzothumela isampula yegazi, amathe, noma izicubu ezivela kuwe ziye elabhorethri ekhethekile yezakhi zofuzo ukuze zihlaziywe. Kuye ngohlobo lokuhlolwa olwenzile, uzothola imiphumela ezinsukwini ezimbalwa noma emavikini ambalwa .

Ngemva kokuthola imiphumela yakho, udokotela wakho angakudlulisela kumeluleki wezakhi zofuzo . Laba ngabantu abathole ukuqeqeshwa okukhethekile ezimweni zofuzo. Bangakwazi:

• Phendula noma yimiphi imibuzo onayo mayelana nokuba ngumthwali wezimpahla.
• Uma ufisa, sicela unikeze ulwazi oludingekayo ukuze wazise umndeni wakho ngesimo senkampani yakho yenethiwekhi.
• Nikeza ulwazi mayelana nezinketho zokuhlela umndeni.
• Ukudlulisela kwabanye abahlinzeki bezempilo uma kudingeka.

Ingabe zikhona izingozi ngalolu vivinyo?

Uma ukhishwa igazi lakho, ungase uzwe ubuhlungu obuncane lapho kufakwa inaliti, noma ungase uzizwe unamanxeba kancane ngemva kwalokho. Lokhu kuvamile.

Ngaphambi kokuba uhlolwe yinkampani ethwala abantu, khuluma nodokotela wakho ngezinzuzo kanye nemikhawulo yalokhu kuhlolwa. Isibonelo, kunethuba elincane lokuthi ungase ungabi yinkampani ethwala abantu kuphela, kodwa futhi ungase ube nohlobo oluncane lwalesi sifo (lokhu akuvamile). Abanye abantu bangase bazizwe becindezelekile noma bekhathazekile ngokwenza lokhu kuhlolwa. Khuluma nodokotela wakho mayelana nokwesaba kwakho kanye nokukhathazeka kwakho. Thola usizo lwezempilo yengqondo uma kudingeka.

Ithini imiphumela?

• Umphumela ongemuhle: Lokhu kusho ukuthi ukuhlolwa akubonanga noma yiziphi izinhlobo zofuzo ezaziwayo emzimbeni wakho. Kulesi simo, ingozi yokuthi izingane zakho zizuze isifo sofuzo iphansi kakhulu. Kodwa-ke, ukuhlolwa kwabathwali akukwazi ukuhlonza u-100% wabathwali besifo ngasinye. Ngakho-ke, umphumela ongemuhle awuqinisekisi ukuthi izingane zakho ngeke zibe nanoma yisiphi isifo sofuzo .

• Umphumela omuhle: Uma uthola umphumela omuhle ekuhlolweni kwakho kwe-Carrier Screening, kusho ukuthi ungumthwali wesifo esisodwa noma ngaphezulu kwezakhi zofuzo. Uma imiphumela yakho inhle, kufanele ucabangele ukuthi umlingani wakho wokuzala naye ahlolwe .

Ake sithi wena nomlingani wakho nobabili ninesimo esifanayo sokukhubazeka kwe-autosomal . Khona-ke ingane ngayinye eninayo inethuba elilandelayo:

• Kukhona ithuba elingama-25% (elilodwa kwabane) lokuthola izakhi zofuzo ezinephutha (elilodwa kumama nelinye kuyise) kanye nokuzalwa unalesi simo .
• Kukhona ithuba elingama-50% (elilodwa kwababili) lokuthola ifa elilodwa nje kuphela elinokukhubazeka (kumama noma kubaba) bese liba yimthwali walo . Kodwa lowo mntwana ngeke abe nalesi sifo.
• Kukhona ithuba elingama-25% (elilodwa kwabane) lokuthola izakhi zofuzo ezinempilo, njengoba zingewona umthwali noma ezingenaso lesi sifo .

Kuthatha isikhathi esingakanani ukwazi imiphumela?

Ukuhlolwa kofuzo kuvame ukuthatha izinsuku ezimbalwa kuya emavikini ambalwa ukuphothulwa. Buza udokotela wakho ukuthi ungalindela nini imiphumela yakho.

Ingabe kufanele ngiphinde ngibone udokotela?

Xhumana nodokotela wakho kulezi zimo:

• Uma ungatholi imiphumela ngaphakathi kwesikhathi enivumelene ngaso.
• Ngisho noma usuyitholile imiphumela yakho, usenemibuzo ngayo.
• Uma ufuna ukukhuluma ngezinketho zakho zokuqala umndeni.

Okokugcina, izinto ezibaluleke kakhulu okufanele uzikhumbule

Ngakho-ke, ngithemba ukuthi manje usunokuqonda okungcono kwalolu vivinyo olubizwa ngokuthi 'Ukuhlolwa Kwabathwali'. Into enkulu ozoyithola kulokhu ukuthi uzokwazi ukwenza izinqumo ezinolwazi mayelana nengane yakho yesikhathi esizayo. Futhi, mhlawumbe lokhu kuzokusiza ukususa noma yikuphi ukwesaba nokungabaza ongase ube nakho futhi uthole ukuthula kwengqondo .

Khumbula, ungalokothi unqikaze ukukhuluma nodokotela wakho, futhi uma kudingeka, nomeluleki wezakhi zofuzo, mayelana nendlela yokuqhubeka nale miphumela. Impilo yakho yengqondo nayo ibaluleke kakhulu, ngakho funa ukwesekwa ngalokho uma ukudinga. Konke lokhu kungenxa yomndeni onempilo nojabulayo.

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