Trisomy pa chromosome yechi21, kana kuti Down's Syndrome, ndiyo inowanzojairika yejenomic patholo inowanikwa munenge 1 pavana vana vakaberekerwa. Masayendisiti akawana kuti chirwere chacho chinokonzerwa nekupararira kusina kukodzera kwemakromosomes, zvichikonzera murwere, panzvimbo pemakopi maviri echromosome yechi21, pane zvitatu. Kutarisira kuti kuonekwa kwehutachiona hazvibviri, zviri pachena kuti rimwe-trisomy mu chromosome yechi21 harisi chimwe chinhu kunze kwekunyanya kwepfungwa, kwepanyama uye yehutano inovhiringidza nekugadzirisa kwekugara nekuvapo kwemwana anorwara.
Maererano nepamusoro apa, zvakaoma kurondedzera kukosha kwekutariswa kwepabonde, zvichiita kuti utero uone njodzi ye trisomy 21 nezviratidzo zvinoratidza.
Kutanga kutarisa katatu
Inotsanangura nzira dzisiri dzisina kuvhiringidza uye dzinosanganisira ultrasound uye kuongorora kwehupenyu hwemai amai. Nguva yakakodzera yekutarisa kusati yatanga kutarisana kwemavhiki 12-13.
Munguva yei ultrasound kuongororwa, nyanzvi dzinoteerera kuhukuru hwekomba yekomba, iyo inoratidza chimiro chekuvapo kwechimwe chinhu. Izvozvi, zvichienderana nevhiki ripi rekudzivirira uye chimiro chinowirirana naro, chiratidzo che trisomy 21 chingave kuwedzerwa kwemirasi nzvimbo inopfuura 5 mm.
Nekudaro, ropa romukadzi uyu rinongororwa mahomoni maviri: b-b-HCG uye RARR-A. Nokuti chikwata chekuyera kwezvikwangwani zvidzidzo zvinotora - MoM. Maitiro anowanikwa akaenzaniswa neanowanzokosha: Trisomy 21 inogona kuratidza kuwedzera kwemahara b-hCG - kupfuura 2 M0Ma, uye kuongororwa kwePAPP-A kunopfuura 0.5MM.
Zvisinei, zvichienderana nemigumisiro yekutanga kuongorora, hazvibviri kutora mhedziso yakagadziriswa, nokuti iyi inongova chiratidzo chinogadziriswa chisingaiti nguva dzose kutarisa zvimwe zvikonzero zvinokonzera kuwanda kwemahomoni aya. Kwavari zvinokwanisika kutakura: zvisingazivikanwi nguva yekutora pamuviri, kuyerwa kwemaamai, kukurudzirwa kwehuputi, kusvuta.
Kuongorora kwechipiri kusati kwatanga
Muchikamu chemavhiki masvondo makumi maviri nemakumi maviri nemashanu, kuedza kwechipiri kunoitwa kuti uongorore maitiro ekurwisa muviri. Iyi nguva inonzi inokurudzira, nokuti kukanganisa kwakawanda kunogona kuonekwa munguva ye ultrasound. Semuenzaniso, mumucheche ane trisomy pamakromosomes 21 akasiyana kubva pachimiro: kureba kwemashurusi uye femur, ukuru hwebhiriji yemhino, ukuru hwemheta yemapenzi, uye dzimwe nguva kuoneka kwepfungwa dzemwoyo, maitiro emimba kana kristi yeplexus plexus yeuropi.
Ropa romudzimai ane pamuviri rinoongororwa kuti rive nhengo ye AFP, iyo inopenya yakajeka yehupenyu hwehutachiwana hwomukomana. Kana, semugumisiro wekuongorora kwechipiri, AFP yakawanika kunge isiri pasi, saka izvi zvinogona kuratidza kuvapo kwetrisomy pama 21 chromosomes.
Zvibereko zvawanikwa zvakaenzaniswa nemigumisiro yekudzidza kwekutanga, kana njodzi dzakakwana zvakakwana, mukadzi ane pamuviri anopiwa dzimwe nzira dzekuongorora.
Nzira dzinopindira dzekugadzirisa chromosomal kusagadzikana
Zvimwe zvakarurama, asiwo nzira dzakaipa zvikuru dzekuona zvirwere zvemajini ndezvekuti:
- amniocentesis - zvinoreva kuputika kwemuviri mudumbu neine nheyo shoma uye fence ye amniotic fluid, inotsvakurudzwa mune ramangwana;
- Chiriyori chinyorwa inzira yakanyatsodzidzisa. Sekutonga, sampuli yevillioni nemascenta masero anoitwa masvondo gumi nemasere, kuburikidza nekuboora mimba yemimba, kana kushandisa katheter kuburikidza nemudzimai;
- umbilical cord ropa sampling, inoitwa zvisati zvaitika kune vhiki 18 yekuzvitakura.
Nzira dzinopindira, kunyange zvazvo dzichibvumira kutsunga kwakarurama kwekuvapo kwema genomic anomaly, asi panguva imwechete inotakura dambudziko rekuregedza kubvisa pamuviri.