Zvirwere zveChenenital zvinosanganiswa nekuputsa kwenhamba yekromosomes kuchengetedza ruzivo rwehutano inowanikwa munenge 1% yevana vachangoberekwa, asi vanenge 20% yezvokuvhiringidzika kwepakutanga kwepakutanga kunokonzerwa nechigadzirwa chisina kujairika che chromosomes mumamashi. IPatau syndrome imwe yezvromosomal pathologies inopesana nehupenyu hwehupenyu.
Patau Syndrome - chirwere ichi chii?
IPatau syndrome inoratidzwa nekuvapo mumasero ewedzerwa nhamba yekromosome gumi nematatu, i.e. Panzvimbo pezvimwe zvechiromosomes homologous yerudzi urwu, pane zvitatu zvakadaro. Anomaly inotsanangurwawo neshoko rokuti "trisomy 13". Kazhinji, chigadzirwa che chromosomes mumasero emuviri womunhu (chinowanzo karyotype) chinomiririrwa nematanho makumi mana (23 mapaundi), ayo maviri maviri ane basa rekuita zvepabonde. Paunenge uchidzidza karyotype mumasero eropa, kuchinja muhutano hwemakromosomes asingasviki hutano hwake hunogona kuonekwa mumunhu chero upi zvake, asi anokwanisa kuzviita ivo mumadzinza.
Patau Syndrome - rudzi rwemhaka
Kana uchitaridzika se "Patau syndrome", karyotype inoratidzirwa nenzira yakadai: 47 XX (XY) 13+. Muchiitiko ichi, matatu makopi ekromosome yegumi nematatu inogona kuva mumasero ose emuviri, mune dzimwe nguva chimwe chromosome yakagadzirwa inongowanikwa mune mamwe masero. Izvi zvinokonzerwa nekukanganisa kwekuparadzaniswa kwemasero pakutanga kwekuvandudzwa kwema embryo mushure mekubatanidzwa kweii uye hurau, iyo inowanikwa pasi pesimba reimwe mukati kana kunze kwezvazvinoita. Uyezve, imwe chromosome inogona kuuya kubva kumadzimai nababa, vasina vana vanokanganisa.
Mukuwedzera, kune mamiriro apo imwe nhamba yekromosome yechi13 inogona kusanganiswa kune imwe chromosome muii kana chirume chemaini, chinonzi translocation. Iyi ndiyo chete nzira yePatau syndrome inogona kuparadzirwa kubva kune mumwe wevabereki. Vanhu vari vatakuri vezvinhu zvakashandurwa zvema genetic uye vasingaratidze zviratidzo zvezvirwere vanogona kuzvitumira kuvana vanozvarwa vachirwara.
Ngozi yeTrisomy 13
Ipatau syndrome mu fetus inowanzova nengozi inorwadza, iyo pasina munhu anoponeswa. Munguva pfupi yapfuura, vakawanda vakaroorana vanokurudzirwa kuti vaite karyotyping vasati vamboita zvirongwa, kunyange kana njodzi yakakura yePatau syndrome kana zvimwe zvromosomal zvisiri izvo zvisati zvasimbiswa. Iyi nzira inodzidza mararamiro echromosomes emukadzi uye murume, inoratidza kusiyanisa kwakasiyana-siyana. Pachinono, nekuda kwekudzidza kwema genome yevabereki, zvinokwanisika kufanotaura kana pane mukana wekuzvarwa kwehutano hwehutano.
Kufanana nedzimwe dzakawanda dzechirwere chromosomal, chirwere chinenge chichiongororwa muzviitiko zvakawanda chinowanikwa mumwana ane mimba nevakadzi vakwegura kudarika makore makumi mashanu nemashanu kusvika makumi mashanu nemashanu. Saka, pakutanga kwekudzivirira kunorayirwa kana kune ngozi yakawanda yePatau syndrome, amniocentesis ndiko kuongorora fetal masero kwekuvapo kwemafuro ekuremera. Kuongorora kwakadaro kunoitwa kuburikidza nekushandiswa kwechirwere chechibereko chekuita uterine uye kuunganidzwa kweamniotic fluid nekuvapo kwemaonda mashoma emucheche.
Patau syndrome - frequency of occurrence
Iyo karyotype, inozivikanwa nePatau syndrome, inyoreswa kamwechete kune imwechete yevana 7 kusvika ku14 000 vanoberekwa vari vapenyu. Izvi zvinoitika kune vakomana nevanasikana zvakafanana. Mukuwedzera, kutora pamuviri nekuputsika kwakadaro mumucheche ndeyeboka riri pangozi yekusununguka pamuviri kana kuberekwa. Muna 75% yezviitiko, vabereki vevana vane chirwere ichi havana chromosomal kusakanganiswa, zvikamu zvakasara zvinosanganiswa nenhaka-nekuda kwekuendeswa kwehamba nhamba yechromosome 13 kubva kune mumwe wevabereki.
Patau Syndrome - zvikonzero zve
Zvisizvo zvisina maitiro ehutachiona hazvive nezvikonzero zvakakwana zvekutanga, chidzidzo chekugumbura chinoda kutsvakurudza kwakaoma. Kusvika iye zvino, hazvina kunyatsosimbiswa panguva iyo kukanganisa kunowanikwa - apo kuumba masero epabonde kana kana kuumba zygote. Zvinotendwa kuti chromosome yakawanda inoita kuti zvive zvakaoma kuverenga ma genome nemasero, izvo zvinova chipingamupinyi kune zvakajairika kuumbwa kwemasukisi, kubudirira nekugadziriswa kwenguva nenguva kwekukura kwavo nekukura.
Masayendisiti anoratidza kuti chikonzero chePatau syndrome chinogona kusanganiswa nezvinhu zvakadaro:
- kutarisana nemirairo yeioni;
- toxic effects;
- zvirwere zvinotapukira;
- kusagadzikana kwezvinhu zvakasikwa;
- miitiro yakaipa yaamai.
Patau syndrome - zviratidzo
Mune zvimwe zviitiko, apo kwete chete nhamba yemasero mumuviri inokanganiswa, kwete kunyanya kuzivikanwa uye kwete kukurumidza kukura kusakanganisika kunoonekwa, asi kazhinji kupotsa kunokosha. Uyezve, kunze kwekunetseka kwekunze kunogona kuonekwa mumufananidzo, iyoPatau syndrome inoratidzika nehuwandu hwekusawirirana kwenhengo dzomukati. Kunyanya kukanganisa hakugoneki.
Ngatitaurirei kuti zviratidzo zvePatau's syndrome ndezvipi:
1. Kushamwaridzana nehurongwa hwemagetsi:
- kuderedza musoro ivhu;
- kuputsa kwekuumbwa kwemakumbo ehemispheres;
- kukanganisa kwekuvandudza pfungwa;
- kukanganisa motani kukura;
- cerebrospinal defect;
- kusaona kwekuona;
- cataract;
- optic nerve hypoplasia;
- microphthalmia;
- detachment ye retina.
2. Musculoskeletal, ganda risina kunaka:
- shortened neck;
- kukanganisa chimiro chevashandi;
- kukanganiswa kwetsoka;
- umbilical hernia;
- kusavapo kweganda nemvere;
- kuvapo kweminwe isina simba pamaoko kana ruoko nemakumbo kana zviputi;
- kushandura mafungiro emakwenzi;
- bhujiro rinoputika remhepo;
- mhumhi muromo ;
- cleft lip .
3. Zviratidzo zveUrogenital:
- cysts mu cortical layer yeimpso;
- bifurcation of ureters;
- anomalies yemakumbo.
4. Zvimwe zvisingaiti:
- zvikanganiso zvepakati-cardiac septums;
- kuchinja kwezvikepe zvikuru;
- kushungurudzika kwekusuruvara kwehomoni;
- kushanduka kwepancreas;
- kushanduka kusina kwemukati;
- kuwedzera spleen, nezvimwewo.
Patau's syndrome - maitiro ekuongororwa
Mushure mokuberekwa kwemwana, kuongororwa kwePatau's syndrome hakuratidzi matambudziko nekuonekwa kunoonekwa. Kuti kusimbise kuongororwa, kuongororwa kweropa kunoitwa kuti ione genotype yePatau syndrome, ultrasound. Genetic analysis inoitwawo mumamiriro ekufa kwechecheche, izvo zvinoita kuti zvive nyore kuwana chimiro chechirwere, kunzwisisa kana iri nhaka (inokosha kuti urambe uchironga vana).
Syndrome Patau - miedzo
Icho chinonyanya kukosha kutsanangura nenzira yakakodzera panguva yekutsauka mumatambo ekutanga ekudzivirira, izvo zvinogona kuitwa kusvika kumagumo ekutanga kwetatu. Pamberi pokuberekwa kweTrisomy 13 chromosome inogona kuonekwa nokuongorora masero kubva kumamoniotic fluid (amniotic fluid) yakawanikwa panguva ye amniocentesis kana kubva kumasero akawanikwa necharion biopsy.
Kuongorora kwepabonde kunogona kuitika kana vabereki vari pangozi yekuvandudza hutano hwekuzvarwa uye pakuongorora mazita ekuzvarwa kwevana vane pamuviri. Panguva dzakasiyana-siyana, nzira dzakadaro dzokuenzanisa dzinoshandiswa kuitira chinangwa chekuwandisa kwehuwandu fluorescent polymerase chain reaction method:
- kubva masvondo 8-12 - kutora chiduku chechirion (embryonic membrane);
- kubva mavhiki 14-18 - kusarudzwa kweamniotic fluid ine fetal cell masero kuburikidza nemadziro emukati pe peritoneum;
- mushure memavhiki makumi maviri nemakumi maviri - kuvhara kwemukati weropa mumutsara wembilical.
Syndrome Patau pa ultrasound
Kutanga nevegumi nembiri vhiki yekuzvitakura, kukura kwekukanganisa mu fetus kunogona kuonekwa ne ultrasound kuongororwa. Patau's syndrome inoratidzwa nekuvapo kwezviratidzo zvinotevera:
- polyhydramnios muvakadzi vane pamuviri ;
- chinhu chiduku chisina kukwana mumucheche;
- zvigunwe zviduku pamakumbo;
- kuwedzerwa kwezveruzhinji;
- kuwandisa kwepfungwa, zvimwe.
Kurapa kwePatau syndrome
Zvinosuruvarisa kuti izvi zvinogona kumira, asi vana vane Patau syndrome vanorwara zvachose, nokuti havasi kurwara. hazvibviri kugadzirisa chromosomal kusagadzikana. Syndrome Patau zvinoreva chidimbu chakakura cheIdiocy, kukwana kwakakwana. Vabereki avo vakasarudza kubereka mwana ane kusakadza kwakadaro vanofanira kutaridzirwa kuti achada kugara nekuchengetwa uye kurapwa. Kupindira kwekuvhiya uye mishonga yekurapa zvinogona kuitwa kuitira kugadzirisa kushanda kwehurongwa hunokosha uye nhengo, chirongwa chepurasitiki, kudzivirira kwehutachiona nekuputika.
Patau's syndrome - kufungidzira
Kune vana vanorwara nePatau's syndrome, kutarisira upenyu muupenyu huzhinji hahupfuuri gore rimwechete. Kakawanda vana vakadaro vanowirwa kufa mumavhiki ekutanga kana mwedzi mushure mokuberekwa. Vasi pasi pe15% yevana vanorarama kusvika makore mashanu, uye munyika dzakabudirira dzine huwandu hwehutano hwehutano, anenge 2% yevarwere vanopona kusvika kumakore gumi. Muchiitiko ichi, kunyange avo varwere vasina ruzivo rwakakura rwemuviri, havagoni kuzvienzanisa uye kuzvitarisira ivo pachavo.