Ndezvipi zvinokonzera zvirwere izvi uye ndeipi ngozi yekuwana mwana ane trisomy mu 21 18 13 chromosome - ngatiedzei kuifunga.
Pathophysiology of Diseases
Iyo inowanzozivikanwa yegene pathologies - trisomy pa13, 18, kana 21 makromosomes anomuka semugumisiro wekuparadzirwa kusina kukodzera kwezvisikwa zvegene mukutengesa kwemasero. Mune mamwe mazwi, fetus inowanikwa kubva kuvabereki panzvimbo yemakromosomes maviri anorayirwa, asi imwe yeropa yemakero 13, 18 kana 21 kana 21 anodzivisa kukura kwepfungwa uye kwemuviri.
Maererano nehuwandu, trisomy pamakemosome 21 (Down cider) anoitika kakawanda kupfuura trisomy pamakromosomes 13 ne18. Uye kutarisira hupenyu kwevana vanozvarwa nevana vaPatau uye Edwards, sekutonga, hafu pasi pegore. Kunyange zvazvo vatakuri vemakopi matatu echromosome 21 vachirarama kusvika pakukwegura.
Asi chero zvakadaro, vana vane mararamiro akadaro havakwanisi kuva nhengo dzakakwana dzevanhu, tinogona kutaura kuti vanorasikirwa kusurukirwa uye kutambura. Nokudaro, vakadzi vane pamuviri avo, mushure mekuita maitiro ekuongorora zvipenyu, vakawana dambudziko guru re trisomy pamakrisomusi 13, 18, 21, anowedzera kuongororwa. Kana kuongororwa kwasimbiswa, vangangobvunzwa kuti vasiye kuberekwa.
Trisomi 21 18 13: kududzira kwekuongorora
Ngozi yekuva nemwana ane trisomy 21, 18, kana 13 chromosome inowedzera dzimwe nguva nezera raamai, asi izvi hazvikwanisi kubviswa kubva kuvasikana vaduku. Nekuda kuderedza nhamba yevana vanoberekwa nemararamiro aya, masayendisiti akagadzira nzira dzinokosha dzekuongorora hunoita kuti munhu afunge kuti pane chimwe chinhu chakaipa panguva yekuzvitakura.
Pachikamu chekutanga chekuongororwa, vanaamai vanouya, vanachiremba vanokurudzirwa zvikuru kuti vapfuure kuongorora maitiro, kunyanya, izvo zvinonzi kuidzwa katatu. Kubva pamasvondo makumi maviri nemakumi maviri nemashanu, mukadzi anopa kuongororwa kweropa, maererano nehutano hwakatemwa: AFP (alpha-fetoprotein), estriol, hCG uye inhibin-A. Izvozvo zvinotevera zvinoratidza zviitiko zvekuvandudza uye chimiro chemucheche.
Kuti kuve nehutano hwetrisomy pane 21, 18, 13, chromosome, zvizvarwa zvekare zvinofanidza zviratidzo zvakawanikwa. Zvinonyatsozivikanwa kuti vakadzi vane mungozi yekudzidzira fetal Down syndrome:
- pasi pezera remakore makumi maviri nemashanu (1: 1250;
- mumakore makumi matatu-1: 1000;
- mumakore 35 - 1: 400;
- mumakore makumi mana-1: 100;
- mumadzimai ane pamuviri anopfuura makumi mashanu, mungozi yekurwara dzimwe nguva inowedzera - 1 kusvika ku40.
Semuenzaniso, kana kuonekwa kwechikonzero chemukadzi wemakore makumi matatu nemasere ane makore makumi mashanu nemashanu, izvi zvinoratidza kuwedzera kwengozi uye kudiwa kwekuwedzera kuongororwa. Nokuda kwekupedzisira kuongororwa, nzira dzakadai sechirion biopsy , amniocentesis , cordocentesis, placentocentesis zvinoshandiswa.
Kuvimba kwekuwedzera mumungozi yekuva nevana vane trisomy 13, 18, zvichienderana nezera remadzimai, rinowanikwawo, asi harina kududzwa kupfuura munyaya ye trisomy 21. Muna 50%, kukanganisa kunoratidzwa panguva ye ultrasound. Kune unyanzvi ane ruzivo, hazvisi zvakaoma kutsanangura Edwards kana Patau syndrome nezviratidzo.
