Munguva yepamuviri, vanaamai vekuzotevera vanoongorora kusati vaona kutora maitiro ekutanga kwemafuro emucheche. Chimwe chezvirwere zvakakomba zveboka iri ndiro chirwere chakatsanangurwa naJohn Edwards muna 1960. Mukurapa, inozivikanwa se trisomy.
Edwards Syndrome - chii chiri mumashoko mashoma?
Munhengo yakanaka yevarume nemadzimai ekuberekwa kune chiyero kana haploid yekromosomes muchikamu chezvikamu 23. Mushure mekubatana vanogadzira kiti yega-karyotype. Iye sechirongwa cheDNA-pasipoti, ine iga ye genetic data pamusoro pomwana. Ichinyakare kana kuti diploid karyotype ine 46 chromosomes, 2 yemhando imwe neimwe, kubva kuna amai nababa.
Nechirwere chiri mubvunzo, mumapiro gumi nemana pane chimwe chechipiri chinowanikwa. Uyu trisomy kana Edwards syndrome - karyotype, ine ma 47 chromosomes panzvimbo yezvikamu 46. Dzimwe nguva chikamu chechitatu che chromosome 18 chiripo zvishoma kana kuti hazviitiki mumasero ose. Maitiro akadaro haawanzoongororwa (anenge 5%), mavara aya haaiti maitiro ehutachiona.
Edwards Syndrome - zvikonzero zve
Geneticists havasati vaona kuti nei vamwe vana vachikura izvo zvakatsanangurwa chromosomal mutation. Zvinotendwa kuti zvinongoerekana zvangoitika, uye hapana zvipingamupinyi zvekudzivirira kuti zvakagadzirwa. Dzimwe nyanzvi dzinobatanidza kunze kwezvinhu uye Edwards syndrome - zvikonzero, zvinofanirwa kugovera pakuvandudzwa kwemasinga:
- kushandisa kwenguva refu zvinodhaka, doro, fodya;
- hutano;
- age kana amai kana baba vanopfuura 45;
- hutachiona hwemadzimai edzimba;
- kushandiswa kwenguva refu kwemishonga inobatsira maitiro ezvirwere zvemuviri, endocrine uye maitiro ekubereka;
- kusvibiswa kwemaharaactive radiation.
Edwards Syndrome - Genetics
Kubva pamigumisiro yeongororo dzechangobva kuitika mu 18 chromosome ine 557 DNA zvikamu. Vanokomberedza marudzi anopfuura 289 emapurotini mumuviri. Mune chikamu cheizvi 2,5-2.6% yeiyo genetic, saka ye 18 chromosomes yakanyanya kukanganiswa nekukura kwe fetus - Syndrome Edwards inokuvadza mapfupa ehenya, mwoyo uye genito-urinary systems. Kushandurudza kunokanganisa zvimwe zvikamu zveuropi uye nedzimwe nhengo dzemawere plexuses. Kune murwere ane Edwards syndrome, karyotype inomiririrwa, sezvinoratidzwa mumufananidzo. Anonyatsoratidza kuti mashese ose akabatanidzwa, kunze kwemasere 18.
Kuwedzerwa kweEdwards syndrome
Izvi zvirwere hazviwanzoitiki, kunyanya kana zvichienzaniswa neyakanyanyozivikaniswa maitiro ekusaremara. Disease Edwards syndrome inowanikwa mune mumwe mwana achangoberekwa nevana 7 000 vane utano hwakanaka, kunyanya mumusikana. Hazvikwanisi kutaridzirwa kuti nguva yebaba kana nyaya inobatsira zvikuru kuitika kwekuitika kwetrisomy 18. Edwards syndrome inowanikwa muvana chete 0.7% kakawanda kana vabereki vane makore anopfuura makumi mashanu. Iyi chromosomal mutation inowanikwawo pakati pevana vaduku vanoberekwa vachiri vaduku.
Edwards Syndrome - zviratidzo
Chirwere chinenge chichifungidzirwa chine chiitiko chechirwere chechirwere chinobvumira kutsanangura zvakarurama trisomy 18. Pane mapoka maviri ezviratidzo zvinowirirana neEdwards syndrome - zviratidzo zvinowanzoiswa mukati mechikwata chemukati chisina kusimba uye kupererwa kwekunze. Rudzi rwekutanga rwekuratidzira runosanganisira:
- umbilical, inguinal hernia;
- kuberekwa kwemwoyo kusakwana ;
- kusavapo kwekuyamwisa uye kumedza reflex;
- diverticulum yeMeckel ;
- gastroesophageal reflux;
- atresia we anus kana esophagus;
- hypertrophy ye clitoris;
- kudzivirirwa kwekorpus callosum, cerebellum;
- cryptorchidism ;
- nzvimbo isina kunaka yemukumbo;
- hypospadias;
- kuwirirana kwevanyori;
- atrophy kana kupera kwe cerebral convolutions;
- kugoverwa kana mafungiro akafanana nemabhiza;
- asina kufanirwa mavari;
- twisted spine;
- muscular dystrophy;
- Kuderera kwemuviri (anenge 2 kg pakuberekwa).
Kunze, zvakare, zviri nyore kuziva Edwards syndrome - mufananidzo wevana vane trisomy 18 inoratidza kuvapo kwezviratidzo zvinotevera:
- disproportionate small head;
- kukanganiswa chiso chiso;
- glottis shoma uye shoma;
- akaremara, akadzika-nzeve (akatambanudzwa zvakananga);
- kusabatwa kwelobes, dzimwe nguva - tragus uye kunyange nzeve yekanzwi;
- chikamu chidiki uye chakafara;
- tsvina yakaderera yakadzika;
- muromo maduku, kazhinji kacho kuvharwa kwetatu kunokonzerwa nehutachiona hwepamusoro pamuromo;
- Yakabudiswa bhiriji yakawedzerwa yemhino;
- "Kudonha-kumisa";
- zviputi pakati peminwe kana fusion yavo (zviputi-semakumbo);
- high palate, dzimwe nguva nechinangwa;
- Mutsipa mutsva uye unozivikanwa collar peta;
- migwagwa inofamba-famba uye scallops pamichindwe;
- hemangiomas uye mapillomas paganda;
- ptosis ye maziso;
- strabismus;
- kupfuurira occiput uye pasi pasi.
Edwards Syndrome - Kuziva
Iyo yakatsanangurwa chirwere chema genetic inoratidza zvakananga kubvisa pamuviri. Vana vane Edwards syndrome havazombokwanisi kurarama zvizere, uye hutano hwavo huchakurumidza kupera. Nokuda kwechikonzero ichi, zvakakosha kufungidzira trisomy 18 pamusi wekutanga. Kuti aongorore hutachiona huno, huwandu hwekuongorora maitiro hwakagadzirwa.
Kuongorora kweEdwards Syndrome
Kune nzira dzisingasviki uye dzisingaiti dzekudzidza zvinhu zvehupenyu. Rudzi rwechipiri rwekuongororwa runofunga kuti rwakanyanya kuvimbika uye rwakavimbika, runobatsira kuziva Edwards syndrome mu fetus pamavambo ekutanga. Izvo-hazvina kuvhiringidza ndeyekuenzanisira kusati kwasangana kwekutanga kweropa raamai. Nzira dzinosanganisa dzokuongorora dzinosanganisira:
- Chorionic villus biopsy. Chidzidzo chinoitwa kubva kumavhiki masere. Kuita kuongorora, chidimbu chepaccenta shell inodururwa, nokuti chimiro chayo chinenge chakanyatsopindirana neye fetal tissue.
- Amniocentesis . Panguva yekuedzwa, muenzaniso we amniotic fluid inotorwa. Iyi nzira inogadzirisa chirwere cheEdwards kubva kumavhiki 14 ekugumira.
- Cordocentesis. Iko kuongorora kunoda kamuviri kamuviri kedopa re fetus, saka nzira iyi yekuongorora inoshandiswa chete pamagumo ekupedzisira, kubva kumavhiki makumi maviri.
Ngozi yeEdwards Syndrome muByrochemistry
Kuongororwa kwepabonde kunoitwa mumutambo wekutanga wekuita pamuviri. Amai vemazuva ano vanofanira kupa ropa munguva yegumi nemasere yevhiki yegumi nemasere ekugadzirisa kwehupenyu hwehupenyu. Kubva pamigumisiro yekutsanangurira chiyero che chorionic gonadotropin uye plasma proteiniti A, njodzi yeEdwards syndrome mu fetus inoverengwa. Kana iri yakakwirira, mukadzi wacho anounzwa muboka rakakodzera pane imwe nhanho yekutsvakurudza (inowanikwa).
Edwards syndrome - zviratidzo zve ultrasound
Izvi zvinowanzoshandiswa, kunyanya mumamiriro ezvinhu apo mukadzi ane pamuviri asina kutarisana nemararamiro ekuongorora. Evha's syndrome pamusoro pe ultrasound inogona kuonekwa mumangwana akazotevera, apo fetus inenge yakanyatsoumbwa. Zviratidzo zviratidzo zveTrisomy 18:
- intrauterine kusagadzikana kwemwoyo nematomu uye genitourinary system;
- anomalies ye musculoskeletal zvivako;
- hutano hwemapfupa ehenya uye zvinyoro zvinyoro zvemusoro.
- Zviratidzo zvisingaoneki zvechirwere pa ultrasound:
- bradycardia;
- kunonoka pakukura kwe fetus;
- imwe ariti mumutsara wembilical (panofanira kuva maviri);
- a hernia mudumbu remuviri;
- Kuonekwa kusipo kwemapfupa emhino.
Edwards Syndrome - kurapwa
Kurapa kwekuchinja kwemuviri kunongororwa kunoratidzira kuderedza zviratidzo zvaro nekufambisa hupenyu hwechecheche. Sora Edward's syndrome uye uone kuti mwana akazadza zvakakwana haagoni. Basa rezvekurapa rinobatsira:
- dzorerazve chikafu chezvokudya neatresia ye anus kana mumukumbo;
- kuronga kudyisa kuburikidza nepurogiramu kurwisana nemamiriro ekusavapo kwekuyamwisa uye kumedza mafungiro;
- kugadzirisa kushanda kwemwoyo yematambudziko;
- kuisa muitiro wekubuda kwemuti.
Kazhinji Edward 'syndrome yevana vachangoberekwa inowedzera kushandiswa kwezvokurwisa-kupisa, antibacterial, hormonal nedzimwe mishonga yakasimba. Izvo zvakakosha pakurapa kwakanyanya panguva yakakodzera yezvirwere zvose zvinosangana, izvo zvinoita kuti:
- Wilms tumor ;
- conjunctivitis;
- pneumonia;
- otitis media;
- pulmonary hypertension;
- sinusitis;
- urino-genital zvirwere;
- frontitis;
- kukwirira kweropa uye vamwe.
Edwards Syndrome - kufungidzira
Mhembera yakawanda neyeiyo inotsanangurwa maitiro ekufa inenge ichifa panguva yekuita gumbo nekuda kwekurambwa nemuviri wemusana muduku. Mushure mokuberekwa, chiitiko chacho chinonyadzisa zvakare. Kana Edwards syndrome ichiongororwa, vangani vana vakadaro vanogara, tichatarisa muzvikamu:
- 60% - kwete mwedzi mitatu;
- 7-10% - 1 gore;
- inenge 1% - kusvika pamakore gumi.
Muzviitiko zvakasiyana-siyana (trisomy isina kukodzera kana kuti 18), zvikamu zvinogona kusvika pakukura. Kunyange mumamiriro ezvinhu akadaro, chirwere cheJohn Edwards chicharamba chichifambira mberi. Vana vakuru vane chirwere ichi vanoramba vari oligophrenic nokusingaperi. Zvose zvavanokwanisa kudzidziswa:
- simudza musoro wako;
- kuseka;
- zvimirepo ipapo;
- kuti vaone denderedzwa revanhu vashoma.