Okuqukethwe
Edwards syndrome - isifo sesibili esivame kakhulu sofuzo ngemva kwe-Down syndrome, ehambisana nokushintshashintsha kwe-chromosomal. Nge-Edwards syndrome, kune-trisomy ephelele noma eyingxenye ye-chromosome ye-18, ngenxa yalokho kwakheka ikhophi yayo eyengeziwe. Lokhu kudala izinkinga eziningi ezingalungiseki emzimbeni, ezimweni eziningi ezingahambisani nempilo. Ukuvama kokuvela kwalesi sifo kuyicala elilodwa ezinganeni eziyizinkulungwane ezingu-5-7, kuyilapho iningi lezingane ezisanda kuzalwa ezinezimpawu zika-Edward zingamantombazane. Abacwaningi basikisela ukuthi izingane zabesilisa ziyafa ngesikhathi sokubeletha noma ngesikhathi sokubeletha.
Lesi sifo saqala ukuchazwa yisazi sofuzo u-Edward ngo-1960, owathola izimpawu ezingaphezu kuka-130 ezibonisa lesi sifo. I-Edward syndrome ayizuzwa njengefa, kodwa iwumphumela wokuguqulwa, okungenzeka kube ngu-1%. Izinto ezibangela i-pathology ukuchayeka emisebeni, ukuhlangana phakathi kukababa nomama, ukuchayeka isikhathi eside ku-nicotine notshwala ngesikhathi sokukhulelwa nokukhulelwa, ukuthintana nezinto ezinolaka lwamakhemikhali.
I-Edwards syndrome yisifo sofuzo esihlobene nokuhlukana okungavamile kwama-chromosome, ngenxa yokuthi kwakheka ikhophi eyengeziwe ye-chromosome ye-18. Lokhu kuholela ezinkingeni eziningi zofuzo, okubonakala ngezifo ezingathi sína zomzimba ezifana nokukhubazeka kwengqondo, inhliziyo yokuzalwa, isibindi, isimiso sezinzwa esiyinhloko, nokukhubazeka kwemisipha.
Isigameko salesi sifo asivamile - amacala angu-1: 7000, kuyilapho iningi lezingane ezisanda kuzalwa ezine-Edward syndrome zingaphili unyaka wokuqala wokuphila. Phakathi kweziguli ezikhulile, iningi (75%) ngabesifazane, njengoba izibungu zesilisa ezinalesi sifo ziyafa ngisho naphakathi kokukhula kwengane, ngenxa yokuthi ukukhulelwa kugcina ngokuphuphuma kwesisu.
Isici esiyinhloko esiyingozi ekuthuthukisweni kwe-Edwards syndrome iminyaka kamama, njengoba ukungahlangani kwama-chromosome, okuyimbangela ye-pathology ye-fetus, ezimweni eziningi (90%) kwenzeka engqamuzaneni yegciwane likamama. I-10% esele yezimo ze-Edwards syndrome ihlotshaniswa nokudluliselwa kanye nokungahlukani kwama-chromosome e-zygote ngesikhathi sokuqhekeka.
I-Edward syndrome, njenge-Down syndrome, ivame kakhulu ezinganeni ezinonina abakhulelwa ngaphezu kweminyaka engamashumi amane. (funda futhi: Izimbangela nezimpawu ze-down syndrome)
Ukuze unikeze ukunakekelwa kwezokwelapha okufika ngesikhathi ezinganeni ezinokukhubazeka kokuzalwa okucasulwa ukungahambi kahle kwe-chromosomal, izingane ezisanda kuzalwa kufanele zihlolwe udokotela wenhliziyo, udokotela wezinzwa, udokotela wezingane kanye nodokotela wamathambo. Ngokushesha ngemva kokuzalwa, usana ludinga ukuhlolwa kokuxilonga, okuhlanganisa i-ultrasound ye-pelvis nesisu, kanye ne-echocardiography ukuze kutholakale ukungahambi kahle kwenhliziyo.
Izimpawu ze-Edward Syndrome
Inkambo ye-pathological yokukhulelwa ingenye yezibonakaliso eziyinhloko zokuba khona kwe-Edward syndrome. I-fetus ayisebenzi, usayizi we-placenta onganele, i-polyhydramnios, umthambo owodwa kuphela we-umbilical. Ekuzalweni, izingane ezine-Edwards syndrome zibonakala ngesisindo somzimba esiphansi, ngisho noma ukukhulelwa kubambezelekile, i-asphyxia ngokushesha ngemva kokuzalwa.
Izifo eziningana zokuzalwa kwezinsana ezine-Edward syndrome ziholela eqinisweni lokuthi iningi lazo lifa emasontweni okuqala okuphila ngenxa yezinkinga zenhliziyo, ukungenakwenzeka kokuphefumula okuvamile nokugaya. Ngokushesha ngemva kokuzalwa, ukondliwa kwabo kwenziwa ngeshubhu, njengoba bengakwazi ukuncela nokugwinya, kuba kudingekile ukuba kungene umoya wamaphaphu.
Izimpawu eziningi zibonakala ngeso lenyama, ngakho-ke lesi sifo sitholakala ngokushesha. Ukubonakaliswa kwangaphandle kwe-Edwards syndrome kuhlanganisa: i-sternum efinyeziwe, i-clubfoot, ukukhishwa kwe-hip kanye nesakhiwo esingavamile sezimbambo, iminwe ewela, isikhumba esimbozwe ama-papillomas noma i-hemangiomas. Ngaphezu kwalokho, izingane ezisanda kuzalwa ezinalesi sifo zinesakhiwo esithile sobuso - ibunzi eliphansi, intamo efinyeziwe enesikhumba esiningi kakhulu, umlomo omncane, udebe oluvulekile, i-convex nape kanye ne-microphthalmia; izindlebe zibekwe phansi, izindlebe zincane kakhulu, ama-auricles akhubazekile.
Ezinganeni ezine-Edward syndrome, kukhona ukuphazamiseka okukhulu kwesimiso sezinzwa esiyinhloko - i-microcephaly, i-cerebellar hypoplasia, i-hydrocephalus, i-meningomyelocele nabanye. Konke lokhu kungalungile kuholela ekwephuleni ubuhlakani, i-oligophrenia, idiocy ejulile.
Izimpawu ze-Edward syndrome zihlukahlukene, lesi sifo sinokubonakaliswa cishe kuzo zonke izinhlelo nezitho - ukulimala kwe-aorta, i-septa yenhliziyo nama-valve, ukuvinjelwa kwamathumbu, i-fistula esophageal, i-umbilical kanye ne-inguinal hernias. Kusukela ohlelweni lwe-genitourinary ezinganeni zabesilisa, ama-testicles angapheli ajwayelekile, emantombazaneni - i-clitoral hypertrophy kanye ne-bicornuate uterus, kanye ne-pathologies evamile - i-hydronephrosis, ukwehluleka kwezinso, i-diverticula yesinye.
Izimbangela ze-Edward Syndrome
Ukuphazamiseka kweChromosomal okuholela ekuveleni kwe-Edward syndrome kwenzeka ngisho nasesiteji sokwakheka kwamangqamuzana amagciwane - i-oogenesis ne-spermatogenesis, noma avele lapho i-zygote eyakhiwe amangqamuzana amabili amagciwane ingachotshozwa kahle.
Izingozi ze-Edward's syndrome ziyafana nezinye izinto ezingavamile ze-chromosomal, ngokuyinhloko ziyafana nalezo ze-Down's syndrome.
Amathuba okuba khona kwe-pathology ayanda ngaphansi kwethonya lezici eziningana, phakathi kwazo okuyinhloko iminyaka yomama. Izehlakalo ze-Edwards syndrome ziphakeme kwabesifazane ababeletha ngaphezu kweminyaka engu-45. Ukuchayeka emisebeni kuholela ekuphazamisekeni kwe-chromosomal, futhi ukusetshenziswa kotshwala okungapheli, izidakamizwa, izidakamizwa ezinamandla, nokubhema nakho kunomthelela kulokhu. Ukugwema imikhuba emibi nokugwema ukuchayeka ezintweni ezinolaka lwamakhemikhali endaweni yokusebenza noma endaweni yokuhlala akunconywa kuphela ngesikhathi sokukhulelwa, kodwa futhi nezinyanga ezimbalwa ngaphambi kokukhulelwa.
Ukuxilongwa kwe-Edward syndrome
Ukuxilongwa ngesikhathi kwenza kube nokwenzeka ukuhlonza ukuphazamiseka kwe-chromosomal ezigabeni zokuqala zokukhulelwa futhi kunqume ngokufaneleka kokuyigcina, kucatshangelwa zonke izinkinga ezingenzeka kanye nokukhubazeka kokuzalwa kwengane. Ukuhlolwa kwe-Ultrasound kwabesifazane abakhulelwe akunikezi idatha eyanele yokuxilonga i-Edward syndrome nezinye izifo zofuzo, kodwa inganikeza ulwazi mayelana nenkambo yokukhulelwa. Ukuchezuka kokujwayelekile, okufana ne-polyhydramnios noma umbungu omncane, kubangela ucwaningo olwengeziwe, ukufakwa kowesifazane eqenjini elisengozini kanye nokulawula okwandisiwe ngesikhathi sokukhulelwa esikhathini esizayo.
Ukuhlolwa ngaphambi kokubeletha kuyindlela yokuxilonga esebenzayo yokuthola ukukhubazeka kusenesikhathi. Ukuhlolwa kwenzeka ngezigaba ezimbili, eyokuqala eyenziwa ngeviki le-11 lokukhulelwa futhi iqukethe ukucwaninga kwemingcele yegazi le-biochemical. Idatha mayelana nosongo lwe-Edward syndrome ku-trimester yokuqala yokukhulelwa ayiqiniseki, ukuze kuqinisekiswe ukwethembeka kwabo, kuyadingeka ukudlula isigaba sesibili sokuhlolwa.
Abesifazane abasengozini yokuthola i-Edwards syndrome bayelulekwa ukuthi bahlolwe ukuze kuqinisekiswe ukuxilonga, okusiza ukuthuthukisa elinye isu lokuziphatha.
Ezinye izimpawu ezibonisa ukukhula kwe-Edwards syndrome ukungavamile kombungu okutholwe ku-ultrasound, insada yoketshezi lwe-amniotic olune-placenta encane, kanye ne-agenesis yomthambo wenkaba. Idatha ye-Doppler yokujikeleza kwe-uteroplacental, i-ultrasound kanye nokuhlolwa okujwayelekile kungasiza ekuxilongweni kwe-Edward syndrome.
Ngaphandle kwezinkomba zesimo se-fetus kanye nenkambo ye-pathological yokukhulelwa, izizathu zokubhalisa umama wesikhathi esizayo eqenjini eliyingozi kakhulu zineminyaka engaphezu kwe-40-45 kanye nokukhuluphala ngokweqile.
Ukuze unqume isimo sombungu kanye nezici zenkambo yokukhulelwa esigabeni sokuqala sokuhlolwa, kuyadingeka ukuthola idatha ekugxilweni kwe-PAPP-A amaprotheni nama-beta subunits we-chorionic gonadotropin (hCG). I-HCG ikhiqizwa yi-embryo ngokwayo, futhi njengoba ikhula, i-placenta ezungeze umbungu.
Isigaba sesibili senziwa kusukela evikini lama-20 lokukhulelwa, kuhlanganisa ukuqoqwa kwamasampula ezicubu zokuhlolwa kwe-histological. Igazi lentambo noketshezi lwe-amniotic zifaneleka kakhulu kulezi zinhloso. Kulesi sigaba sokuhlolwa kwe-perinatal, kungenzeka ukuthola iziphetho mayelana ne-karyotype yengane ngokunemba okwanele. Uma umphumela wocwaningo ungemuhle, khona-ke akukho okungavamile kwe-chromosomal, ngaphandle kwalokho kunezizathu zokwenza ukuxilongwa kwe-Edwards syndrome.
Ukwelashwa kwe-Edward syndrome
Njengezinye izifo zofuzo ezibangelwa ukungajwayelekile kwe-chromosomal, ukubikezela kwezingane ezine-Edwards syndrome kubi. Abaningi babo bafa ngokushesha lapho bezalwa noma ezinsukwini ezimbalwa, naphezu kosizo lwezokwelapha olunikezwayo. Amantombazane angaphila kuze kufike ezinyangeni eziyishumi, abafana bafa phakathi nezinyanga ezimbili noma ezintathu zokuqala. I-1% kuphela yezingane ezisanda kuzalwa ezisindayo zize zibe neminyaka eyishumi ubudala, kuyilapho ukuzimela nokuzivumelanisa nenhlalo akubuzwa ngenxa yokukhubazeka okukhulu kwengqondo.
Amathuba amaningi okusinda ezinyangeni zokuqala ezigulini ezinesimo se-mosaic se-syndrome, ngoba umonakalo awuthinti wonke amangqamuzana omzimba. Ifomu le-mosaic lenzeka uma ukungahambi kahle kwechromosomal kwenzeka esigabeni sokuhlukaniswa kwe-zygote, ngemva kokuhlanganiswa kwamaseli egciwane lesilisa nesifazane. Khona-ke ingqamuzana lapho kwakukhona khona ukungahlangani kwama-chromosome, ngenxa yokuthi i-trisomy yakhiwa, ngesikhathi sokuhlukana idala amangqamuzana angavamile, abangela zonke izimo ze-pathological. Uma i-trisomy yenzeka esigabeni se-gametogenesis nelinye lamaseli egciwane, khona-ke wonke amaseli we-fetus ayoba angajwayelekile.
Awukho umuthi ongakhuphula amathuba okuthi alulame, ngoba akukakwazi ukuphazamisa izinga le-chromosomal kuwo wonke amaseli omzimba. Okuwukuphela kwento imithi yesimanje enganikeza ngayo ukwelashwa okunezimpawu nokugcina ukusebenza kahle kwengane. Ukulungiswa kwezimo ze-pathological ezihlobene ne-Edwards syndrome kungathuthukisa izinga lempilo yesiguli futhi kunwebe ukuphila kwaso. Ukungenelela kokuhlinzwa kokukhubazeka kokuzalwa akukhuthazwa, ngoba kuhlanganisa ubungozi obukhulu empilweni yesiguli futhi kunezinkinga eziningi.
Iziguli ezine-Edward syndrome kusukela ezinsukwini zokuqala zokuphila kufanele zibonwe udokotela wezingane, njengoba zisengozini kakhulu kuma-agent athathelwanayo. Phakathi kwezinsana ezisanda kuzalwa ezinalesi sifo, i-conjunctivitis, izifo ezithathelwanayo zesistimu ye-genitourinary, i-otitis media, i-sinusitis, ne-pneumonia zivamile.
Abazali bengane ene-Edward syndrome bavame ukukhathazeka ngombuzo wokuthi kungenzeka yini ukubeletha futhi, yimaphi amathuba okuthi ukukhulelwa okulandelayo kuzoba yi-pathological. Ucwaningo luqinisekisa ukuthi ingozi yokuphinda iphinde yenzeke ku-Edwards syndrome kumbhangqwana ofanayo iphansi kakhulu, ngisho noma iqhathaniswa namathuba amaphakathi angu-1% wamacala. Amathuba okuba nenye ingane ene-pathology efanayo cishe angu-0,01%.
Ukuze kuhlolwe ngesikhathi esifanele i-Edward syndrome, omama abakhulelwe bayelulekwa ukuba benze ukuhlolwa kwangaphambi kokubeletha ngesikhathi sokukhulelwa. Uma ama-pathologies etholakala ezigabeni zokuqala zokukhulelwa, kuzokwazi ukukhipha isisu ngezizathu zezokwelapha.