Mukati
Edwards syndrome - yechipiri inowanzozivikanwa chirwere chemajini mushure meDown syndrome, yakabatana nechromosomal aberrations. Ne Edwards syndrome, kune yakazara kana chidimbu trisomy ye18th chromosome, semhedzisiro iyo imwe kopi yayo inogadzirwa. Izvi zvinomutsa kuwanda kwekusagadzikana kwemuviri, izvo kazhinji zvisingaenderane nehupenyu. Kuwanda kwekuitika kwechirwere ichi inyaya imwe pavana zviuru zvishanu-5, nepo ruzhinji rwevacheche vane chiratidzo cheEdward vasikana. Vatsvakurudzi vanoti vana vechirume vanofa panguva yekusununguka kana kuti panguva yekusununguka.
Chirwere ichi chakatanga kutsanangurwa na geneticist Edwards muna 1960, uyo akacherechedza zviratidzo zvinopfuura 130 zvinoratidza chirwere ichi. Edwards syndrome haina kugarwa nhaka, asi mhedzisiro yekuchinja, mukana weiyo 1%. Zvinhu zvinokonzera pathology kuratidzwa kwemwaranzi, kuwirirana pakati pababa naamai, kugara vachisangana nechikakananda nedoro panguva yekubata pamuviri uye nepamuviri, kusangana nemakemikari ane hukasha.
Edwards Syndrome chirwere chemajini chinobatanidzwa nekuparadzaniswa kusiri kwemaitiro emakromosomes, nekuda kwekuti imwe kopi ye18th chromosome inogadzirwa. Izvi zvinotungamira kune akati wandei genetic kusagadzikana, iyo inoratidzwa neakakomba pathologies emuviri senge kuderera kwepfungwa, congenital moyo, chiropa, central nerve system, uye musculoskeletal defects.
Chiitiko chechirwere hachiwanzoitiki - 1: 7000 zviitiko, asi vazhinji vachangoberekwa vane Edwards syndrome havararami kupfuura gore rokutanga rehupenyu. Pakati pevarwere vakuru, ruzhinji (75%) ndevakadzi, sezvo madzimai echirume ane chirwere ichi vanofa kunyange panguva yekukura kwe fetus, nekuda kwekuti mimba inopera mukuparara.
Chinhu chikuru chengozi yekukura kweEdward syndrome izera raamai, sezvo kusabatana kwekromosomes, iyo ndiyo inokonzera fetal pathology, kazhinji (90%) inoitika mumasero emadzimai. Iyo yakasara 10% yezviitiko zveEdward syndrome zvinosanganiswa nekuchinjika uye kusapatsanurwa kwezygote chromosomes panguva yekucheka.
Edwards syndrome, senge Down syndrome, inowanzoitika muvana vanaamai vanova nepamuviri vanopfuura makore makumi mana. (verenga zvakare: Zvinokonzera uye zviratidzo zve Down syndrome)
Kuti vape rubatsiro rwekurapa panguva yakakodzera kuvana vane hutachiona hwekuzvarwa hunotsamwiswa nechromosomal abnormalities, vacheche vanofanirwa kuongororwa necardiologist, neurologist, urologist yevana uye orthopedist. Pakarepo mushure mekuberekwa, mucheche anoda kuongororwa kuongororwa, iyo inosanganisira ultrasound yepelvis uye dumbu, pamwe ne echocardiography kuti aone kukanganisa kwemwoyo.
Zviratidzo zveEdward Syndrome
Iyo pathological course yekuzvitakura ndechimwe chezviratidzo zvikuru zvekuvapo kweEdward syndrome. "Fetus" haishande, haina kukwana placenta size, polyhydramnios, umbilical artery imwe chete. Pakuberekwa, vana vane Edwards syndrome vanoratidzwa nekuderera kwehuremu hwemuviri, kunyange kana pamuviri wakanonoka, asphyxia pakarepo mushure mekuberekwa.
Nhamba dzinoverengeka dzekuzvarwa pathologies dzevacheche vane Edwards syndrome dzinotungamira kune chokwadi chekuti vazhinji vavo vanofa mumavhiki ekutanga ehupenyu nekuda kwematambudziko emoyo, kusakwanisa kwekufema kwakajairika uye kugaya. Pakarepo mushure mekuberekwa, kudya kwavo kunoitwa kuburikidza nechubhu, sezvo vasingakwanise kuyamwa nekumedza, zvinova zvakafanira kuti vagadzirise mapapu.
Zvizhinji zvezviratidzo zvinoonekwa nemaziso, saka chirwere chinowanikwa pakarepo. Zviratidzo zvekunze zveEdward syndrome zvinosanganisira: shortened sternum, clubfoot, kutsemuka kwehudyu uye chimiro chisina kujairika chembabvu, zvigunwe zvakayambuka, ganda rakafukidzwa nemapillomas kana hemangiomas. Mukuwedzera, vacheche vane chirwere ichi vane chimiro chechiso chakananga - huma yakaderera, mutsipa wakapfupika nekuputika kweganda rakanyanyisa, muromo muduku, muromo wakatsemuka, convex nape uye microphthalmia; nzeve dzakadzikira, nzeve dzakanyanya kutetepa, auricles dzakaremara.
Muvana vane Edwards syndrome, kune kukanganisa kwakakomba kwepakati penheyo system - microcephaly, cerebellar hypoplasia, hydrocephalus, meningomyelocele nevamwe. Zvose izvi zvinokanganisa zvinotungamirira mukukanganisa kwenjere, oligophrenia, idiocy yakadzika.
Zviratidzo zve Edwards syndrome zvakasiyana-siyana, chirwere chacho chine zviratidzo kubva kunenge yose maitiro uye nhengo - kukanganisa kune aorta, septa yemwoyo uye mavharuvhu, kuvhara kwematumbo, esophageal fistulas, umbilical uye inguinal hernias. Kubva kune genitourinary system muvana vacheche, zvipembenene zvisingasviki zvinowanzoitika, muvasikana - clitoral hypertrophy uye bicornuate uterus, pamwe chete nezvirwere zvinowanzoitika - hydronephrosis, renal failure, bladder diverticula.
Zvikonzero zveEdward Syndrome
Chromosomal disorders inotungamirira pakubuda kweEdward syndrome inoitika kunyange padanho rekuumbwa kwemasero emagetsi - oogenesis uye spermatogenesis, kana kuonekwa apo zygote inoumbwa nemasero maviri emagetsi asina kunyatsopwanyika.
Ngozi dzeEdward's syndrome dzakafanana kune dzimwe chromosomal abnormalities, zvakanyanya kufanana neaya eDown's syndrome.
Mukana wekuitika kwechirwere chetachiona unowedzera pasi pesimba rezvikonzero zvinoverengeka, pakati peiyo imwe yeiyo huru izera reamai. Chiitiko cheEdward syndrome chakakura kuvakadzi vanosununguka pazera remakore 45. Kuratidzwa kwemwaranzi kunotungamirira kuchromosomal abnormalities, uye kunwa doro kwenguva refu, zvinodhaka, zvinodhaka zvine simba, uye kusvuta kunoparirawo izvi. Kudzivisa tsika dzakaipa uye kudzivisa kutarisana nemakemikari ane utsinye munzvimbo yebasa kana nzvimbo yekugara inokurudzirwa kwete chete panguva yekuzvitakura, asiwo mwedzi yakawanda vasati vabata pamuviri.
Kuongororwa kweEdward syndrome
Kuongororwa panguva yakakodzera kunoita kuti zvikwanise kuziva chromosomal kusagadzikana mumatanho ekutanga epamuviri uye sarudza nezve zano rekuchengetedza, tichifunga nezvese zvinogoneka matambudziko uye congenital malformations ye fetus. Ultrasound kuongororwa muvakadzi vane pamuviri haipe data yakakwana yekuongorora Edwards syndrome uye zvimwe zvirwere zvemajini, asi inogona kupa ruzivo pamusoro pekufamba kwepamuviri. Kutsauka kubva pane zvakajairwa, senge polyhydramnios kana mwana mudiki, zvinopa kuwedzera kumwe kutsvagisa, kuiswa kwemukadzi muboka renjodzi uye kuwedzera kutonga pamusoro penguva yekuzvitakura mune ramangwana.
Prenatal screening inzira inoshanda yekuongorora yekuona kusakwana panguva yekutanga. Kuongorora kunoitika mumatanho maviri, yekutanga iyo inoitwa pavhiki yegumi neimwe yekuzvitakura uye inosanganisira mukudzidza kweiyo biochemical ropa parameter. Dhata pamusoro pekutyisidzirwa kweEdward syndrome mune yekutanga trimester yekuzvitakura haisi mhedziso, kuitira kusimbisa kuvimbika kwavo, zvakakosha kupfuudza chikamu chechipiri chekuongorora.
Vakadzi vari panjodzi yeEdward syndrome vanorayirwa kuti vaongororwe nechisimba kuti vasimbise kuongororwa, izvo zvinobatsira kugadzira imwe nzira yekuzvibata.
Zvimwe zviratidzo zvinoratidza kukura kweEdward syndrome kusaenzana kwe "fetus" inoonekwa paultrasound, kuwanda kweamniotic fluid ine placenta diki, uye agenesis yeguvhu. Doppler data ye uteroplacental circulation, ultrasound uye standard screening inogona kubatsira mukuongororwa kweEdward syndrome.
Mukuwedzera kune zviratidzo zvehutano hwe fetus uye pathological course yekuzvitakura, zvikonzero zvekunyora amai vemangwana muboka repamusoro-soro vane makore anopfuura 40-45 uye kuwandisa.
Kuti uone mamiriro e "fetus" uye maitiro epamuviri padanho rekutanga rekuongororwa, zvakakosha kuwana data pamusoro peiyo PAPP-A protein uye beta subunits yechorionic gonadotropin (hCG). HCG inogadzirwa ne embryo pachayo, uye sezvainokura, ne placenta inopoteredza fetus.
Danho rechipiri rinoitwa kutanga kubva pavhiki rechimakumi maviri rekuzvitakura, rinosanganisira kuunganidzwa kwematishu samples ekuongorora histological. Tambo yeropa uye amniotic fluid inonyatsokodzera izvi zvinangwa. Panguva ino yekuongorora perinatal, zvinokwanisika kutora mhedziso pamusoro pekaryotype yemwana nekururama kwakakwana. Kana chigumisiro chekudzidza chisina kunaka, saka hapana chromosomal abnormalities, kana zvisina kudaro pane zvikonzero zvekuita kuongororwa kwe Edwards syndrome.
Kurapa kweEdward syndrome
Sezvimwe nezvimwe zvirwere zvemajini zvinokonzerwa nechromosomal abnormalities, kufungidzira kwevana vane Edwards syndrome kwakashata. Vazhinji vavo vanofa pakarepo pakuzvarwa kana mukati memazuva mashoma, zvisinei nerubatsiro rwekurapa rwunopihwa. Vasikana vanogona kurarama kusvika mwedzi gumi, vakomana vanofa mukati mekutanga miviri kana mitatu. Chete 1% yevacheche vanopona kusvika pazera regumi, nepo kuzvimirira uye kugadzirisa magariro hazvisi kunze kwemubvunzo nekuda kwehurema hwakanyanya hwepfungwa.
Zvingangoita kuti vararame mumwedzi yekutanga kune varwere vane mosaic fomu yesyndrome, sezvo kukuvara kusingakanganisi masero ese emuviri. Iyo mosaic fomu inoitika kana chromosomal abnormalities yakaitika padanho rezigote division, mushure mekusanganiswa kwemasero echirume neechikadzi. Ipapo sero umo maive nekusabatana kwechromosomes, nekuda kweiyo trisomy yakaumbwa, panguva yekukamukana inopa masero asina kujairika, izvo zvinomutsa zvese pathological phenomena. Kana trisomy yakaitika padanho regametogenesis neimwe masero ejemu, ipapo masero ese e "fetus" anenge asina kujairika.
Iko hakuna mushonga unogona kuwedzera mikana yekupora, nekuti haisati yave kugona kupindira padanho rechromosomal mumasero ese emuviri. Chinhu chimwe chete chinogona kupa mushonga wemazuva ano kurapwa kwechiratidzo uye kuchengetedza kugona kwemwana. Kugadziriswa kwezviitiko zvepathological zvine chekuita neEdward syndrome zvinogona kuvandudza hupenyu hwemurwere uye kurebesa hupenyu hwayo. Kuvhiya kupindira kwekusagadzikana kwekuzvarwa hakukurudzirwe, sezvo kunosanganisira njodzi huru kuhupenyu hwemurwere uye zvine zvakawanda zvinonetsa.
Varwere vane Edwards syndrome kubva pamazuva ekutanga ehupenyu vanofanira kucherechedzwa navanachiremba vevana, sezvo vari pangozi zvikuru kune zvirwere zvinotapukira. Pakati pevacheche vane chirwere ichi, conjunctivitis, zvirwere zvinotapukira zvegenitourinary system, otitis media, sinusitis, uye mabayo zvinowanzoonekwa.
Vabereki vemwana ane Edwards syndrome vanowanzonetseka pamusoro pemubvunzo wekuti kana zvichibvira kubereka zvakare, ndeipi mukana wekuti pamuviri unotevera uchavawo pathological. Zvidzidzo zvinosimbisa kuti njodzi yekudzokororwa kweEdward syndrome mune vakafanana vaviri yakaderera, kunyangwe ichienzaniswa neavhareji mukana we1% wezviitiko. Mukana wekuve nemumwe mwana ane chirwere chimwe chetecho ungangoita 0,01%.
Kuti uongorore panguva yakakodzera Edwards syndrome, vanaamai vane pamuviri vanorayirwa kuti vaende kunoongororwa panguva yekuzvitakura. Kana ma pathologies akaonekwa mumatanho ekutanga ekuzvitakura, zvinokwanisika kubvisa pamuviri nekuda kwezvikonzero zvekurapa.