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Edwards ciwo - cuta ta biyu mafi yawan al'ada bayan Down syndrome, hade da chromosomal aberrations. Tare da ciwo na Edwards, akwai cikakkiyar trisomy ko partially na chromosome na 18, wanda sakamakon haka an samar da ƙarin kwafinsa. Wannan yana haifar da rikice-rikice na jiki da ba za a iya jurewa ba, waɗanda a mafi yawan lokuta ba su dace da rayuwa ba. Yawan faruwar wannan Pathology shine shari'ar guda ɗaya a cikin yara 5-7, yayin da yawancin jarirai tare da alamar Edwards 'yan mata ne. Masu bincike sun ba da shawarar cewa yara maza suna mutuwa a lokacin haihuwa ko lokacin haihuwa.
Masanin ilimin halittu Edwards ne ya fara bayyana cutar a cikin 1960, wanda ya gano alamun fiye da 130 waɗanda ke nuna wannan ilimin. Edwards ciwo ba a gaji ba, amma sakamakon maye gurbi ne, wanda yiwuwarsa shine 1%. Abubuwan da ke haifar da cututtuka sune bayyanar radiation, haɗin kai tsakanin uba da uwa, kamuwa da nicotine na yau da kullum da barasa a lokacin daukar ciki da ciki, hulɗa da abubuwa masu haɗari.
Edwards ciwo cuta ce ta kwayoyin halitta wacce ke da alaƙa da rabe-raben chromosomes mara kyau, saboda wanda aka samu ƙarin kwafin chromosome na 18. Wannan yana haifar da rikice-rikice masu yawa na kwayoyin halitta, waɗanda ke bayyana ta hanyar cututtuka masu tsanani na jiki kamar rashin hankali, zuciya mai haihuwa, hanta, tsarin juyayi na tsakiya, da lahani na musculoskeletal.
Abubuwan da ke faruwa na cutar ba su da yawa - 1: 7000 lokuta, yayin da yawancin jariran da ke fama da cutar Edwards ba sa rayuwa bayan shekara ta farko ta rayuwa. Daga cikin manya marasa lafiya, yawancin (75%) mata ne, tun da ƴan tayin da ke da wannan cututtukan suna mutuwa ko da a lokacin ci gaban tayin, wanda ciki ya ƙare a cikin ɓarna.
Babban haɗari ga ci gaban ciwon Edwards shine shekarun mahaifiyar, tun da rashin daidaituwa na chromosomes, wanda shine dalilin cututtukan tayi, a mafi yawan lokuta (90%) yana faruwa a cikin kwayar cutar mahaifa. Sauran kashi 10% na lokuta na ciwon Edwards suna da alaƙa da canzawa da rashin daidaituwa na chromosomes na zygote yayin tsagewa.
Ciwon Edwards, kamar Down syndrome, ya fi zama ruwan dare a cikin yaran da iyayensu mata ke yin ciki sama da shekaru arba'in. (karanta kuma: Dalilai da alamun rashin lafiya)
Don ba da kulawar likita a kan lokaci ga yaran da ke fama da nakasar haihuwa wanda ke haifar da rashin daidaituwa na chromosomal, ya kamata a duba jariran da likitan zuciya, likitan neurologist, likitan urologist da likitan kasusuwa. Nan da nan bayan haihuwa, jaririn yana buƙatar gwajin gwaji, wanda ya haɗa da duban dan tayi na ƙashin ƙugu da ciki, da kuma echocardiography don gano cututtuka na zuciya.
Alamomin Edwards Syndrome
Hanyar pathological na ciki yana daya daga cikin manyan alamun kasancewar ciwon Edwards. Dan tayin baya aiki, rashin isashen mahaifa, polyhydramnios, jijiya na cibiya daya tilo. A lokacin haihuwa, jariran da ke fama da cutar Edwards suna da ƙarancin nauyin jiki, koda kuwa an jinkirta jinkirin ciki, asphyxia nan da nan bayan haihuwa.
Yawancin cututtukan cututtuka na jarirai tare da ciwo na Edwards suna haifar da gaskiyar cewa yawancin su suna mutuwa a farkon makonni na rayuwa saboda matsalolin zuciya, rashin yiwuwar numfashi na al'ada da narkewa. Nan da nan bayan haihuwa, ana aiwatar da abinci mai gina jiki ta hanyar bututu, tun da ba za su iya tsotsewa da haɗiye ba, ya zama dole don shayar da huhu.
Yawancin alamun ana iya gani da ido, don haka ana gano cutar kusan nan da nan. Bayyanar cututtukan Edwards na waje sun haɗa da: gajeriyar sternum, ƙwallon ƙafa, rarrabuwar kwatangwalo da tsarin haƙarƙari mara kyau, ƙetare yatsu, fata wanda aka rufe da papillomas ko hemangiomas. Bugu da ƙari, jariran da aka haifa tare da wannan ilimin cututtuka suna da ƙayyadaddun tsarin fuska - ƙananan goshi, ƙananan wuyansa tare da ƙullun fata mai yawa, ƙananan baki, lebe mai laushi, ƙuƙwalwar ƙuƙwalwa da microphthalmia; kunnuwa sun yi ƙasa da ƙasa, magudanar kunne sun yi kunkuntar, ƙwanƙwasa sun lalace.
A cikin yara masu fama da ciwo na Edwards, akwai cututtuka masu tsanani na tsarin juyayi na tsakiya - microcephaly, cerebellar hypoplasia, hydrocephalus, meningomyelocele da sauransu. Duk waɗannan ɓarna suna haifar da cin zarafi na hankali, oligophrenia, zurfin rashin hankali.
Alamun bayyanar cututtuka na Edwards sun bambanta, cutar tana da bayyanar cututtuka daga kusan dukkanin tsarin da gabobin - lalacewa ga aorta, septa na zuciya da bawuloli, toshewar hanji, fistulas esophageal, umbilical da inguinal hernias. Daga tsarin genitourinary a cikin jarirai maza, ƙananan ƙwayoyin da ba a kwance ba suna da yawa, a cikin 'yan mata - hypertrophy na clitoral da mahaifa bicornuate, da kuma cututtuka na yau da kullum - hydronephrosis, gazawar koda, diverticula mafitsara.
Dalilan Edwards Syndrome
Cututtukan chromosomal da ke haifar da bayyanar cutar Edwards suna faruwa ko da a matakin samuwar ƙwayoyin ƙwayoyin cuta - oogenesis da spermatogenesis, ko kuma suna bayyana lokacin da zygote da ƙwayoyin ƙwayoyin cuta guda biyu suka ƙirƙira ba su da kyau sosai.
Hadarin da ke tattare da ciwon Edward iri daya ne da na sauran cututtukan chromosomal, galibi iri daya ne da na ciwon Down.
Yiwuwar faruwar cututtukan cututtukan ƙwayar cuta yana ƙaruwa a ƙarƙashin tasirin abubuwa da yawa, waɗanda ɗayan manyan su shine shekarun mahaifiyar. Yawan cutar Edwards ya fi yawa a cikin matan da suka haihu sama da shekaru 45. Fuskantar radiation yana haifar da rashin daidaituwa na chromosomal, da kuma yawan amfani da barasa, kwayoyi, kwayoyi masu karfi, da shan taba suna taimakawa ga wannan. Hana daga munanan halaye da kuma guje wa fallasa abubuwan da ke tattare da kemikal a wurin aiki ko yankin zama ana ba da shawarar ba kawai lokacin daukar ciki ba, har ma da watanni da yawa kafin daukar ciki.
Binciken cututtukan Edwards
Ainihin ganewar asali yana ba da damar gano cutar chromosomal a farkon matakan ciki da yanke shawara akan shawarar kiyaye shi, la'akari da duk rikice-rikice masu yuwuwa da nakasar ɗan tayi. Binciken duban dan tayi a cikin mata masu juna biyu ba ya samar da cikakkun bayanai don gano cutar Edwards da sauran cututtuka na kwayoyin halitta, amma zai iya ba da bayani game da yanayin ciki. Bambance-bambance daga al'ada, irin su polyhydramnios ko ƙaramin tayin, yana haifar da ƙarin bincike, haɗa mace a cikin ƙungiyar haɗari da haɓaka iko akan yanayin ciki a gaba.
Nunawar haihuwa hanya ce mai inganci don gano rashin lafiya a matakin farko. Ana yin nuni ne a matakai biyu, na farko ana yinsa ne a mako na 11 na ciki kuma ya ƙunshi nazarin sigogin jini na biochemical. Bayanai game da barazanar cutar Edwards a cikin farkon trimester na ciki ba su ƙare ba, don tabbatar da amincin su, dole ne a wuce mataki na biyu na nunawa.
An shawarci matan da ke cikin haɗarin kamuwa da cutar Edwards da su yi gwajin gwaji don tabbatar da ganewar asali, wanda ke taimakawa wajen bunkasa dabarun haɓaka.
Sauran alamun da ke nuna ci gaban ciwon Edwards su ne rashin lafiyar tayin da aka gano akan duban dan tayi, yawan ruwan amniotic tare da karamin mahaifa, da agenesis na jijiyar cibiya. Bayanan Doppler na wurare dabam dabam na uteroplacental, duban dan tayi da kuma daidaitaccen bincike na iya taimakawa wajen gano cutar ta Edwards.
Bugu da ƙari, alamomi na yanayin tayin da tsarin ilimin cututtuka na ciki, dalilan shigar da mahaifiyar gaba a cikin rukuni mai haɗari shine shekaru fiye da 40-45 da kiba.
Don ƙayyade yanayin tayin da kuma halaye na tsarin ciki a matakin farko na nunawa, dole ne a sami bayanai game da yawan adadin furotin PAPP-A da beta na chorionic gonadotropin (hCG). HCG tana samuwa ta amfrayo da kanta, kuma yayin da yake tasowa, ta wurin mahaifar da ke kewaye da tayin.
Mataki na biyu yana farawa daga mako na 20 na ciki, ya haɗa da tarin samfurori na nama don nazarin tarihin tarihi. Jinin igiya da ruwan amniotic sun fi dacewa da waɗannan dalilai. A wannan mataki na gwajin mahaifa, yana yiwuwa a iya yanke shawara game da karyotype na yaro tare da isasshen daidaito. Idan sakamakon binciken ya kasance mara kyau, to, babu rashin daidaituwa na chromosomal, in ba haka ba akwai dalilai na yin ganewar cutar ta Edwards.
Maganin cutar Edwards
Kamar yadda yake tare da wasu cututtuka na kwayoyin halitta da ke haifar da rashin daidaituwa na chromosomal, tsinkayen yara masu fama da cutar Edwards ba shi da kyau. Yawancinsu suna mutuwa nan da nan lokacin haihuwa ko kuma cikin ƴan kwanaki, duk da taimakon jinya da ake bayarwa. 'Yan mata na iya rayuwa har zuwa watanni goma, maza suna mutuwa a cikin biyu ko uku na farko. Kashi 1 cikin XNUMX na jarirai ne ke rayuwa har zuwa shekaru goma, yayin da 'yancin kai da daidaita zamantakewar al'umma ba su da matsala saboda munanan nakasu na hankali.
Mafi kusantar su tsira a cikin watanni na farko a cikin marasa lafiya tare da nau'in mosaic na ciwo, tun da lalacewar ba ta shafi dukkanin kwayoyin halitta ba. Siffar mosaic tana faruwa ne idan rashin daidaituwar chromosomal ya faru a matakin rabon zygote, bayan haɗuwar ƙwayoyin ƙwayoyin cuta na maza da mata. Sa'an nan kuma tantanin halitta a cikinsa akwai rashin daidaituwa na chromosomes, saboda abin da aka samu trisomy, a lokacin rarraba yana haifar da kwayoyin da ba su da kyau, wanda ke haifar da duk abubuwan da suka faru na pathological. Idan trisomy ya faru a matakin gametogenesis tare da ɗayan ƙwayoyin ƙwayoyin cuta, to, duk ƙwayoyin tayin za su zama mara kyau.
Babu wani magani da zai iya ƙara yiwuwar dawowa, tun da har yanzu bai yiwu a tsoma baki a matakin chromosomal a cikin dukkanin kwayoyin halitta na jiki ba. Abinda kawai maganin zamani zai iya bayarwa shine maganin bayyanar cututtuka da kuma kiyaye lafiyar yaron. Gyara abubuwan da ke tattare da cututtukan cututtukan cututtukan cututtukan cututtukan cututtukan cututtukan cututtukan cututtukan cututtukan cututtukan cututtukan cututtukan cututtukan cututtukan cututtukan cututtukan cututtukan cututtukan cututtukan cututtukan cututtukan cututtukan cututtukan cututtukan cututtukan cututtukan cututtukan cututtukan cututtukan cututtukan cututtukan cututtukan cututtukan cututtukan cututtukan cututtukan cututtukan cututtukan cututtukan cututtukan cututtukan cututtukan cututtukan Edwards na iya haɓaka ingancin rayuwar mara lafiya da tsawaita rayuwarsa. Ba a ba da shawarar yin aikin tiyata don rashin lafiyar mahaifa ba, saboda yana haifar da babban haɗari ga rayuwar majiyyaci kuma yana da matsaloli da yawa.
Marasa lafiya tare da ciwon Edwards daga farkon kwanakin rayuwa ya kamata a lura da likitan yara, saboda suna da rauni sosai ga masu kamuwa da cuta. Daga cikin jariran da ke da wannan ilimin cututtuka, conjunctivitis, cututtuka na tsarin genitourinary, otitis media, sinusitis, da ciwon huhu suna da yawa.
Iyaye na yaro tare da ciwon Edwards sau da yawa suna damuwa game da tambayar ko zai yiwu a sake haifuwa, menene yiwuwar cewa ciki na gaba kuma zai zama pathological. Nazarin ya tabbatar da cewa haɗarin sake dawowar cutar Edwards a cikin ma'aurata ɗaya ya yi ƙasa sosai, ko da idan aka kwatanta da matsakaicin yiwuwar 1% na lokuta. Yiwuwar samun wani yaro mai nau'in ilimin halitta shine kusan 0,01%.
Domin a gano ciwon Edwards a kan lokaci, an shawarci iyaye mata masu ciki da su gudanar da gwaje-gwaje a lokacin daukar ciki. Idan an gano cututtukan cututtuka a farkon matakan ciki, zai yiwu a zubar da ciki don dalilai na likita.