Iimpawu ze-Genetic neZendalo zingabangela i-Neural Tube Defects
U-Anencephaly luhlobo lwesiphene sokuzalwa apho iingxenye ezibalulekileyo zengqondo yengqondo kunye neengqungquthela zomntwana zihluleka ukwenza. Ngelishwa, iintsana ezichaphazelekayo nge-anencephaly ziza kuzalwa okanye ziyafa ekuzalweni. Nangona azalwe ephilileyo, iintsana ezinesifo esinomdla zihlala zifa emva kweentsuku ezimbalwa zokuzalwa. Akukho nonyango olungatshintsha ukuhlaziya.
Ukuqonda i-Neural Tube Defects
I-Anencephaly yintlobo yesiphene se- neural tube (NTD), eziyimpembelelo zokuzalwa ezibandakanya ingqondo, umlenze okanye intambo yomgudu.
Le yimiqathango apho i-tube ye-neural yophuhliso ayikuvalwa kakuhle ngexesha lophuhliso lwabantwana ekuqaleni kwekota yokuqala. Iingxaki ze-Neural tube ziba nobubanzi obukhulu, ukusuka kwiinkxalabo zempilo ezincinane ukuya kuma-100 ekhulwini abulalayo.
Uluhlu olunzima lwaloo mbonakalo luxhala, enye yezona ziphumo ezinzima kakhulu ezifunyanwa ngabazali abalindeleyo xa bekhulelwe. Ngelishwa, iintsana ezinesifo esingenakukwazi ukufumana ingqalelo okanye ukufezekisa imisebenzi yobomi ngenxa yokuba zilahlekile iingxenye ezibalulekileyo zobuchopho. Ngenxa yokuba i-gawula nayo ichaphazeleka yintlupheko, iintsana ezinamaxhala zivame ukukhubazeka kwaye iingxenye zengqondo yazo zingabonakaliswa.
Indlela echongwa ngayo
I-Anencephaly ivame ukubonakala kwi-ultrasound yi-trimester yesibini.
Inkcazo yokuqala malunga nokuxilongwa kungase ibe yinto engafanelekanga kwi- alphafetoprotein (AFP) .
Uvavanyo lwe-AFP lunokufumanisa iipesenti ezingama-80 ukuya kwe-90 zeentsana ezinesiphene se-tube.
Amniocentesis ingasetyenziselwa ukuxilongwa kwakhona. Ukuxilongwa kwe-anencephaly akunakwenzeka ukuba yinyani.
Izizathu
I-Anencephaly ibonakala ibangelwa yintlangano yemfuza neyendalo. Ukusebenzisana kwezi zinto kuphazamisa ukuvalwa kwebhanki ye-neural, eyenzeka phakathi kweveki yesithathu neyesine yokukhulelwa.
Iimpawu ezithile ezisebenza emsebenzini kwi-anencephaly kunye nezinye iziphene ze-tube ne-neural aziqondi kakuhle. Nangona singazi izizathu ezichanekileyo zokubangela i-anencephaly, kuye kwafumanisa ezinye izinto ezinobungozi, kubandakanywa ukungena ngokwaneleyo kwe-aclic acid.
I-Folic Acid ne-Neural Tube Defects
Kukho ubungqina bokuthi ukufumana ukutya okwaneleyo kwe-acid ye-folic ngaphambi kokukhulelwa kuya kunciphisa umngcipheko wokuba usana oluchaphazelekayo naluphi na umonakalo we-tube ye-tube, nangona izizathu ezi ziqondwa kakuhle. Yingakho oogqirha bacebisa bonke abafazi bexesha lokubeletha ukuba bathathe izongezo ze-folic acid kwaye badle ukutya okutyebileyo rhoqo. Musa ukulinda uze ukhulelwe. Abagqithisi abaninzi bancomela ukuba iqale i-folic acid isongezelelo ubuncinane inyanga ezintathu ngaphambi kokukhulelwa.
Oko kwathiwa, i-anencephaly iyenzeka nangona xa umama adla ukutya okugqibeleleyo, ngoko akunakunqandeka kwaye akuqinisekanga ukuba akukho nto iphoso xa kwenzeka. Enyanisweni, uvavanyo luka-2015 oluvavanya ukusabalalisa kweephene ze-neural njenge-anencephaly eYurophu, yafumanisa ukuba akuzange kubekho ukunciphisa iziganeko zezi ziphoso, nangona iinqununu ziphakanyisiwe ukwenzela ukwandisa i-folic acid ekhoyo kwindawo emininzi eminyaka.
Ngakolunye uhlangothi, kokubili ukuvela kunye nobukhulu beempazamo zamathambo eziphambano (spina bifida) ziye zabonakala zinciphisa kwiindawo zehlabathi apho ukutya kudla rhoqo nge-folic acid.
Iintshukumo zoMzimba
Sifundile ukufunda ngokuguquka kwemfuyo enokunyusa umngcipheko wokuba nexhala. Ukuthetha nomcebisi wezofuzo kunokukunceda ukuba unqume ukuba ilifa lingaba nendima. Nangona kunjalo, umzekelo wokuba uzuzo luya kuthetha ukuba kukho iimeko zokukhubazeka kwe-neural tube, kodwa kungekhona ukuba olu tshintsho lubangela iziphene ze-neural tube.
Ezinye izinto ezijongene nobungozi
Ezinye izinto ezinokudlala indima ekuphuhliseni i-anencephament zibandakanya isimo sezemfundo, isimo semfundo, iminyaka yobudala, kunye nemeko engqongileyo ngaphezu kwe-folic acid.
Kukho uphando oluqhubekayo kwi-Washington state ehlola iqoqo leintsana ezinomdla kunye nokukhangela izizathu ezinokwenzeka, ingaba ezi zinto ziyimfuza (ezinxulumene neendlela ezahlukahlukeneyo kwi-folic acid path), ukuchithwa kwimiba yendalo okanye i-toxins yomsebenzi, nokunye.
Ingozi yokuphindaphinda
Abazali abanomntwana onesifo sengqondo banokuba neengcipheko ezine ukuya kweyeshumi zokuba nomntwana ochaphazelekayo ngenxa yokukhubazeka kwexesha elizayo, nangona i-defect ye-neural tube defect ayinokuba yi-anencephaly. Oogqirha banokucebisa ukuba bathathe amanani aphezulu e-acid ye-folic ngaphambi kokukhulelwa kwakhona kwaye banokucebisa ukuba isibini sisebenza kunye nomcebisi wezofuzo.
Yintoni oyenzayo emva kokuxilongwa
Isigqibo sento oyenzayo emva kokuxilongwa kwe-anencephaly ingenza ukukhathazeka kwentliziyo.
Abazali abaninzi banquma ukuphelisa ukukhulelwa emva kokufumana ukuxilongwa kwe-anencephaly, eyazi ukuba kunethuba elihle lokuba umntwana uya kuhlala. Ukuphelisa ukukhulelwa kunokunceda abazali baqhube phambili baze baqale inkqubo yokulila. Izibilini ze-Neural ziyinye yezizathu zokuba ukhulelwe unokupheliswa ngenxa yezizathu zonyango .
Abanye abazali banokuba neenkolo ezinqamlekileyo okanye ezinye iinkolelo zabo malunga nokukhipha isisu, kwaye banokukhetha ukuthwala ukukhulelwa kwisithuba kunye nolwazi olupheleleyo lokuba umntwana akayi kuphila ngaphezu kweentsuku ezimbalwa.
Ukuba ujongene nalolu khetho olunzima, qiniseka ukuba uthathe ixesha lakho ukwenza isigqibo kwaye wenze oko kuvakalelwa kukufanele wena kunye neqabane lakho. Zinike ikamelo lokukhalazela ukulahlekelwa ngumntwana .
Ukujamelana Nexesha Xa umntwana Efunyanwa Ngayo
Kulungile ukuthukuthela, ukudabuka, okanye ukufumana ezinye iimvakalelo. Isibhedlele sakho sinokufumana abacebisi bentlungu, kwaye kukho amaqela amaninzi asekelayo kwi-intanethi ejolise kwiibini ezijongene nokuxilongwa kwe-anencephaly diagnosis. Amacandelo enkxaso yokukhusela i-anencephaly athambekele ekujoliswe kwinkqubo ethile yokusebenza ngokukhulelwa-nokuba oko kuthetha ukunqanda ukukhulelwa okanye ukuthwala ixesha elide-ukuze ufune ukujonga ngaphaya ukuze ufumane olufanelekileyo ngokufanelekileyo.
Iintsapho kunye nabahlobo bomzali
Ukuba uyilungu losapho okanye umhlobo womntu ojongene nokukhulelwa nge-anencephaly, umthandayo uya kufuna yonke inkxaso onokuyenza. Naluphi na uhlobo lokulahleka, nokuba oko kuthetha ukusalelwa kwesisu, ukutshatyalaliswa, okanye ukufa komntwana osandul 'ukuzalwa, kunzima, kodwa i-anencephaly yongeza enye imilinganiselo. Ukuva malunga ne-acidi ye-folic kunye nolo hlobo kunokukhokelela abazali ukuba bazigwebe ngokwabo, kwaye iindlela ezinokuthi zithethwayo, zifana nokuzama ukwenza ukhetho phakathi kokuthatha ilungelo lokujika kumanzi omhlophe onkatha, okanye ukushiya kwesobunxele kube yingwenya egcwele umlambo.
Njengesiqunto esinceda kakhulu, zama UKUBA uvelise izizathu ezinokubangela ukuba unomnxeba nomthandayo. Le mibuzo ibalulekile, kodwa kufuneka ishiywe kunye nalabo abaphanda izizathu, kungekhona umama onomvandalo. Unokuqiniseka ukuba abathandekayo bakho sele bathuthumele ngokwaneleyo kunye nezizathu ezinokwenzeka. Ngesandla esifanayo, nceda ungaziphakamisi izihloko ezinjengomngcipheko wokuthi i-defect ye-neural tube defect ingenzeka kwakhona. Abathandekayo bakho bayabuhlungu, kwaye badinga eli xesha ukujamelana nentlungu ngokwenene namhlanje.
Ekugqibeleni, nokuba unokwenza ukhetho olukhethekileyo ukuba oko bekukukhulelwa kwakho, umzekelo, ukuba unokukhetha ukuya kwikota kwaye umthandayo uya kuphelisa, okanye ukuba uya kugqiba kodwa umhlobo wakho ukhetha ukuya ukuya kwekota, khumbula ukuba oku akusisigqibo sakho sokwenza. Kwaye, sinethemba lokuba awusoze ufune ukwenza eso sigqibo, kuba, njengokuba siyazi kakuhle, abantu badla ukuba baya kukhetha unyango olulodwa xa bejonga imeko ukusuka kude, kodwa ukhethe indlela eyahlukileyo xa ujongene nesigqibo esifanayo ubomi bo kwenene. Abathandekayo bakho kufuneka benze ukhetho olungcono kubo, kungekhona omnye umntu. Kungakhathaliseki ukuba zikhetha ntoni zifuna inkxaso kunye nenkathalo.
Imithombo:
Barron, S. Anencephaly: Uphando oluqhubekayo eWashington State. I-American Journal of Nursing . 2016. 116 (3): 60-6.
Khoshnood, B., Loane, M., de Walle, H. et al. Ixesha lexesha elide ekuqhubekeni kwee-Neural Tube Defects eYurophu: UFundo oluSebenzi lwaBantu. BMJ . 2015. 351: h5949.
Laharwal, M., Sarmast, A., Ramzan, A. et al. I-epidemiology yee-Neural Tube Defects eKashmir Valley. I-Journal ye-Needisciences yezilwanyana . 2016. 11 (3): 213-218.
Singh, N., Kumble Bhat, V., Tiwari, A. et al. I-Homozygous Mutation kwi-TRIM36 Iingxaki ze-Autosomal I-Anosphaly In Family Family. Human Molecular Genetics . 2017 Jan 13. (Epub ngaphambi kokuprinta).