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Chii chinonzi trisomy 18, kana Edwards syndrome?
Panguva yekusangana, ovum nembeu zvinobatana kuita sero rimwe chete, zai-sero. Uyu anowanzo kupihwa machromosomes makumi maviri nematatu (rutsigiro rweiyo genetic nhaka) anobva kuna amai, uye makumi maviri nematatu echromosomes kubva kuna baba. Tinobva tawana 23 mapeya emachromosomes, kana 23 pamwe chete. Nekudaro, zvinoitika kuti kusanzwisisika mukugovaniswa kweiyo genetic nhaka kunoitika, uye kuti trinomial yemakromosomes inoumbwa panzvimbo peviri. Tinobva tataura nezve trisomy.
Edwards syndrome (inonzi mushure meiyo geneticist yakaiwana muna 1960) inokanganisa vaviri 18. Munhu ane trisomy 18 saka ane machromosome matatu 18 pane maviri.
Chiitiko chetrisomy 18 chinonetsa pakati mumwe muvana vatanhatu vakazvarwa uye mumwe chete muvana 6 vakazvarwa, pamusoro pe1 mu400 paavhareji yetrisomy 21. Kusiyana neDown syndrome (trisomy 21), trisomy 18 inoguma nekufa muchibereko mu95% yezviitiko, zvirinani maererano ne portal yezvirwere zvisingawanzo Nherera.
Zviratidzo uye kufungidzira kwetrisomy 18
Trisomy 18 inonzi trisomy yakaoma, nekuda kwezviratidzo zvainokonzera. Vana vachangozvarwa vane trisomy 18 varipo vasina tsandanyama toni (hypotonia, iyo inobva yafambira mberi kusvika ku hypertonia), hyporesponsiveness, kunetseka kuyamwa, minwe mirefu inopindirana, mhino yakasimudzwa, muromo muduku. Intrauterine uye postnatal kukura retardation inowanzoonekwa, pamwe ne microcephaly (yakaderera musoro circumference), hurema hwepfungwa uye matambudziko emotokari. Mamiriro acho akawanda uye anowanzoitika: maziso, mwoyo, gadziriro yekugaya, shaya, itsvo uye weti… Pakati pezvimwe zvingangove zvichinetsa pautano, tinogona kutaura muromo wakatsemuka, tsoka dzetsinga dzakaiswa demo reaizi, nzeve dzakadzika, dzakavharwa zvakaipa uye angular (“mhuka”), spina bifida. (neural tube closure abnormality) kana musana nhete.
Nekuda kwemoyo wakakomba, neurological, digestive kana renal malformations, Vachangozvarwa vane trisomy 18 vanowanzofa mugore ravo rekutanga rehupenyu. Panyaya ye "mosaic" kana "translocation" trisomy 18 (ona pasi apa), tarisiro yehupenyu yakareba, asi haipfuuri kukura.
Nekuda kwematambudziko ese ehutano aya akabatana nechromosomal abnormality, chirevo chetrisomy 18 hachina kunaka: ruzhinji rwevacheche vanobatwa (90%) vanofa vasati vasvika zera rekutanga, nekuda kwematambudziko.
Cherechedza zvisinei kutikurarama kwenguva refu dzimwe nguva kunogoneka, kunyanya kana trisomy iri chidimbu, kureva kuti kana masero ane 47 chromosomes (kusanganisira 3 chromosomes 18) anogara nemasero ane 46 chromosomes, kusanganisira 2 chromosomes 18 (mosaic trisomy), kana kuti chromosome 18 mukuwedzera inobatanidzwa neimwe peya pane pair 18 (translocation). Asi vanhu vanosvika pakukura vanobva varemara zvakaipisisa, uye havagoni kutaura kana kufamba.
Nzira yekuona sei trisomy 18?
Trisomy 18 inowanzo fungidzirwa pa Ultrasound, paavhareji pasvondo rechigumi nenomwe reamenorrhea (kana kuti vhiki yegumi neshanu yekuzvitakura), nekuda kwekukanganisika kwe "fetus" (mumoyo uye muuropi kunyanya), nuchal translucency yakakora, kunonoka kukura ... Ziva kuti serum. mamakisi anoshandiswa kuongorora trisomy 17 dzimwe nguva haana kujairika, asi izvi handizvo zvinogara zvakadaro. Saka Ultrasound inonyanya kunaka pakuita kuongororwa kwetrisomy 15. A fetal karyotype (kurongeka kwemakromosomes ose) inobva yaita kuti zvikwanisike kusimbisa kana kwete Edwards syndrome.
Trisomy 18: kurapwa kupi? Support yei?
Nehurombo, hapana kurapwa kusvika nhasi kurapa trisomy 18. Maererano nenzvimbo Nherera, kuvhiyiwa kurapwa kwekukanganisa hakugadziri zvakanyanya kufungidzira. Pamusoro pazvo, kumwe kushata kwakakura zvekuti haakwanise kuvhiyiwa.
Iyo manejimendi ye trisomy 18 saka ine pamusoro pezvose kutsigira uye kunyaradza kutarisira. Chinangwa ndechekuvandudza hupenyu hwevacheche vakabatwa zvakanyanya sezvinobvira, semuenzaniso physiotherapy. Artificial ventilation uye gastric tube inogona kuiswa panzvimbo yekudya zviri nani uye oxygenation. Kutungamira kunoitwa neboka rekurapa rakasiyana-siyana.