Izakhi ze-Genetic and Environmental zingase zenze i-Neural Tube Defects
I-Anencephaly uhlobo lokukhubazeka okuzalwa lapho izingxenye ezibalulekile zobuchopho nengane zezingane zingakwazi ukwenza. Ngeshwa, izingane ezithinteka yi-anencephaly zizalwa noma zifa ngesikhathi zizalwa. Ngisho noma bezalwa bephila, izinsana ezine-anencephaly ziyafa zingakapheli izinsuku ezimbalwa zokuzalwa. Ayikho ukwelashwa okungashintsha ukubikezela.
Ukuqonda Izinkinga Ze-Neural Tube
I-Anencephaly uhlobo lwe- neural tube defect (NTD), okuyiziphambeko zokuzalwa ezihilela ubuchopho, umgogodla noma intambo yomgogodla.
Lezi yizimo lapho ithebhu ye-neural ethuthukayo ingavali kahle ngesikhathi sokukhula komntwana ekuqaleni konyaka wokuqala. Amaphutha we-Neural tube anesibindi esikhulu, kusukela ekukhathazeni kwezempilo okuncane kuphela kuze kube yi-100% ebulalayo.
Emkhakheni omkhulu we-spectrum u-anencephaly, esinye sezifo ezihlukumeza kakhulu abazali abalindayo abangayithola ngesikhathi sokukhulelwa. Ngeshwa, izinsana ezine-anencephaly azikwazi ukuthola ulwazi noma zenze imisebenzi yempilo ngoba zingekho izingxenye ezibalulekile zobuchopho bazo. Ngenxa yokuthi i-skull nayo iyathinteka yi-disorder, izinsana ezine-anencephaly ngokuvamile zikhubazekile futhi izingxenye zobuchopho bazo zingabonakaliswa.
Indlela Ebonwa Ngayo
Ngokuvamile i-anencephaly ibonakala e-ultrasound yi-trimester yesibili.
Isiqalo sokuqala mayelana nokuxilongwa kungase kube okungavamile ekuhlolweni kwegazi le- alphafetoprotein (AFP) .
Ukuhlolwa kwe-AFP kungabonisa amaphesenti angama-80 kuya kwangu-90 ezinsana ezine-neural tube defect.
I-Amniocentesis ingasetshenziselwa ukuxilongwa. Ukuxilongwa kwe-anencephaly akunakwenzeka ukuba kube yinto enamanga.
Izimbangela
I-Anencephaly ibonakala ibangelwa ukuhlanganiswa kwezakhi zofuzo nezendalo. I-interplay yalezi zici iphazamisa ukuvalwa kwe-tube ye-neural, eyenzeka phakathi kwesonto lesithathu nelesine lokukhulelwa.
Okushiwo yizici ezisebenzayo nge-anencephaly nezinye iziphutha zamathambo we-neural azikaqondi kahle. Yize singazi izimbangela eziqondile ze-anencephaly, kunezici ezithile eziyingozi eziye zabonwa, kuhlanganise nokudla okungenele kwe-folic acid.
I-Folic Acid ne-Neural Tube Defects
Kukhona ubufakazi bokuthi ukutholakala ngokwanele kwe-folic acid ngaphambi kokukhulelwa kuzonciphisa ingozi yokuba nengane ethinteke yikuphi ukukhubazeka kwamathambo we-neural, yize izizathu zalokhu zingaqondakali kahle. Yingakho odokotela beluleka bonke abesifazane besikhathi sokubeletha ukuthatha izithako ze-folic acid futhi badle ukudla okucebile okujwayelekile. Ungalindi kuze kube yilapho usuvele ukhulelwe. Izithakazelo eziningi zincoma ukuthi ziqale ukufaka isilwane se-folic acid okungenani izinyanga ezintathu ngaphambi kokukhulelwa.
Lokho kusho ukuthi, ukungenwa kwesibindi kungenzeka ngisho nalapho omama bedla ukudla okuphelele, ngakho akunakuvinjelwa ngempela futhi akulona neze iphutha lomuntu uma kwenzeka. Eqinisweni, ukutadisha kuka-2015 okuhlola ukusabalalisa kweziphambeko ze-neural tube ezifana ne-anencephaly eYurophu, kutholakale ukuthi akuzange kube khona ukunciphisa izigameko zalezi ziphutha, naphezu kwezincomo eziphakanyisiwe zokwandisa i-folic acid ekhona ezindaweni ezingamashumi eminyaka.
Ngakolunye uhlangothi, kokubili okwenzekayo kanye nobukhulu bezintambo ze-spinal bifump (spina bifida) ziye zabonakala zinciphisa ezindaweni ezingaphansi komhlaba lapho ukudla kuqhubeka khona nge folic acid.
I-Genetic Mutations
Sisaqala ukufunda ngezakhi zofuzo ezingase zande ingozi yokuzikhukhumeza. Ukukhuluma nomeluleki wezofuzo kungakusiza ukuthi ubone ukuthi ifa lingase lidlale indima. Kodwa lokho kusho ukuthi i-pattern yefa ingase isho ukuthi kunezinto ezikhona zokukhubazeka kwe-neural tube, kodwa hhayi ukuthi lezi zinguquko zenza amaphutha we-neural tube.
Ezinye izimbangela zeengozi
Ezinye izici ezingase zibe nendima ekuthuthukiseni i-anencephaly zihlanganisa isimo sezenhlalo, isimo semfundo, iminyaka yobudala, kanye nezimo zemvelo ngaphezu kwe-folic acid.
Kukhona okwamanje uphenyo oluqhubekayo esifundazweni saseWashington kuhlola isigaba sabantwana abanesifo esibucayi futhi sifuna izimbangela ezingaba khona, kungakhathaliseki ukuthi lokhu kungaba nezakhi zofuzo (ezihlobene nezinhlobonhlobo ze-folic acid endleleni), ukuvezwa kwemithi yobungozi bemvelo noma ngaphezulu.
Ingozi Yokuphindaphindiwe
Abazali abanengane ene-anencephaly bangase babe nengozi engamaphesenti amane ukuya kweyishumi okuba nengane ethinteke yiziphambeko ze-neural tube esikhathini esizayo sokukhulelwa, nakuba i-neural tube tube defect kungenzeka ingabi yi-anencephaly. Odokotela bangase bacebise ukuthatha amanani aphezulu e-folic acid ngaphambi kokukhulelwa futhi futhi bangancoma ukuthi lo mbhangqwana usebenza nomeluleki wezakhi zofuzo.
Okufanele Ukwenze Ngemva Kokuthola I-diagnosis
Isinqumo sokwenza ngemuva kokuxilongwa nge-anencephaly singase sikhathazeke inhliziyo.
Abazali abaningi banquma ukuqeda ukukhulelwa ngemuva kokuthola ukuxilongwa kwe-anencephaly, bazi ukuthi kukhona ithuba lokuthi umntwana aphile. Ukuqeda ukukhulelwa kungasiza abazali ukuba baqhubeke futhi baqale inqubo yokulila. Izibhamu ze-Neural zingenye yezizathu zokukhulelwa okungase kupheliswe ngenxa yezizathu zezokwelapha .
Abanye abazali bangase babe nezinkolelo zenkolo noma ezinye izinkolelo eziphathelene nokukhipha isisu, futhi bangakhetha ukuphatha ukukhulelwa kuze kube yisikhathi ngolwazi olugcwele lokuthi ingane ngeke iphile ngaphezu kwezinsuku ezimbalwa kakhulu.
Uma ubhekene nalolu khetho olunzima, qiniseka ukuthi uthatha isikhathi sakho ukwenza isinqumo futhi wenze lokho okukuzwa kahle wena nomlingani wakho. Zinike ikamelo lokudabuka ukulahlekelwa kwengane .
Ukubhekana Nengane Lapho Iqhathaniswa Nezingane
Kulungile ukuthukuthela, ukudabuka, noma ukuzwa noma yimiphi imizwa. Isibhedlela sakho singaba nabeluleki besisindo, futhi kunamaqembu amaningi asekelayo atholakalayo kwi-intanethi eqondisa imibhangqwana esebenzelana nokuxilongwa kwe-anencephaly. Amaqembu asekela anencephaly athambekele ekuhlosweni kwendlela ethile yokubhekana nokukhulelwa-kungakhathaliseki ukuthi lokho kusho ukunqanda ukukhulelwa noma ukuthwala isikhathi eside-ngakho kungase kudingeke ubheke nxazonke ukuze uthole okuhambisana nezidingo zakho.
Umndeni Nabangani Bomzali
Uma uyilunga lomndeni noma umngane womuntu obhekene nokukhulelwa nge-anencephaly, othandekayo wakho uzodinga konke ukusekela ongayinikeza. Noma yiluphi uhlobo lokulahlekelwa, kungakhathaliseki lokho kusho ukususwa kwesisu, isisu, noma ukufa komntwana osanda kuzalwa kunzima, kodwa i-anencephaly inezela ngaphezulu. Ukuzwa mayelana ne-folic acid futhi okunjalo kungabangela abazali ukuba bazibeke icala, futhi izindlela ezingase zibe yizimo ezithinta imizwa, njengokuzama ukwenza ukhetho phakathi kokuthatha ilungelo lokuphendukela emanzini amhlophe ashisayo, noma ukuphenduka kwesokunxele sibe yingwenya egcwele umfula.
Njengengqikithi ewusizo kakhulu, zama UKUQALA ukuveza izimbangela ezingabangela ukukhathazeka ngothandekayo wakho. Le mibuzo ibalulekile, kodwa kufanele ishiywe nalabo abacwaninga izimbangela, hhayi umama odabukisayo. Ungaqiniseka ukuthi abathandekayo bakho sebevele bazihlupha ngokwanele ngezimbangela ezikhona. Ngesandla esifanayo, sicela ungenise izihloko ezinjengengozi yokuthi i-neural tube defect ingase iphinde futhi. Abathandekayo bakho bayabuhlungu, futhi badinga lesi sikhathi ukuze babhekane nokuhlupheka kwabo kwangempela namuhla.
Okokugcina, noma ngabe ungakhetha okuhlukile uma lokhu kungukukhulelwa kwakho, isibonelo, uma ungakhetha ukuya esikhathini futhi othandekayo wakho ukhetha ukuqeda, noma uma uzoqeda kodwa othandayo ukhetha ukuya kuze kube yisikhathi, khumbula ukuthi lesi akusona isinqumo sakho sokwenza. Futhi, ngokuqinisekile, ngeke neze uzenzele lesi sinqumo, ngoba, njengoba siyazi kahle, abantu bavame ukuthi bazokhetha ukwelashwa okulodwa lapho bebuka isimo esivela kude, kodwa bakhethe indlela ehlukile lapho bebhekene nesinqumo esifanayo ngokwabo empilweni yangempela. Abathandekayo bakho badinga ukukhetha okungcono kubo, hhayi omunye umuntu. Kungakhathaliseki ukukhetha kwabo badinga ukwesekwa okugcwele nokukhathalelayo.
Imithombo:
UBarron, S. Anencephaly: UPhenyo oluqhubekayo eWashington State. I-American Journal of Nursing . 2016. 116 (3): 60-6.
Khoshnood, B., Loane, M., de Walle, H. et al. Izitatimende Zesikhathi Eside Ukutholakala Kwezinguquko Ze-Neural Tube EYurophu: Isifundo Esiyisisekelo Sabantu. BMJ . 2015. 351: h5949.
Laharwal, M., Sarmast, A., Ramzan, A. et al. I-epidemiology ye-Neural Tube Defects eKashmir Valley. I-Journal ye-Needisciences yezingane . 2016. 11 (3): 213-218.
Singh, N., Kumble Bhat, V., Tiwari, A. et al. I-Homozygous Mutation ku-TRIM36 I-Causes Autosomal I-Recessive Anencephaly Emndenini waseNdiya. I-Human Molecular Genetics . 2017 Jan 13. (Epub ngaphambi kokuphrinta).