Trisomi 13

Gene kukanganisa kunobatsira zvikuru kubatana kwemwana, naizvozvo nyaya iyi inonyanya kunetseka nezvechiremba uye vabereki veramangwana. Chimwe chezvipembenene zvakadaro ndeyePatau syndrome, inokonzerwa neTrisomy pa chromosome 13. Nezvei uye isu tichataura munyaya ino.

Chii chinonzi Trisomy 13?

The Patau syndrome chirwere chisingawanzopfuura kupfuura Down's syndrome uye Edwards syndrome . Inowanikwa anenge 1 nguva ye 6000 - 14000 pamuviri. Asi, shure kwezvose, ndeimwe yezvikamu zvitatu zvakajairika zvegene pathologies. Iyo chirwere inoumbwa nenzira dzinoverengeka:

• semugumisiro wekugadzirwa kwekromosome yakawedzerwa mune maviri - trisomy iri nyore;
• nekuda kwekuchinja, sechikonzero chekusaita masero esirimu kana kufanirwa nhaka - Robertson's translocation.

Uyewo, yakakwana (mumasero ose), marimi (mune dzimwe) uye zvishoma (kuvapo kwezvimwe zvikamu zvekromosomes).

Nzira yekuziva sei trisomy 13?

Kuti uone kuwanda kwema kromosomes mu fetus, chidzidzo chakaoma kwazvo chinodikanwa - amniocentesis , panguva iyo zvishoma amniotic fluid inotorwa kuti iongorore. Iyi nzira inogona kukanganisa kusununguka kwepabonde. Saka, kuongorora njodzi yekuvapo kwetrisomy 13 mu fetus, chirongwa chakaongororwa chokuongorora chinopiwa. Iyo inosanganisira yekuita ultrasound uye sampuli yeropa kubva mumutsipa, kuti uone kushandiswa kwaro kwechimirochemical.

Kuzivikanwa kwezvinetso zve trisomy 13

Mushure mokupa ropa pamasvondo 12-13 uye ultrasound, amai vari mberi vachawana mugumisiro, apo dambudziko rekutanga uye rimwe nerimwe richave rakatsanangurwa zvakajeka. Kana nhamba yechipiri ye trisomi yokutanga 13 (kureva kuti, inowanzo) isingapfuuri yechipiri, ipapo ngozi inenge yakaderera (somuenzaniso: hwaro hwekutanga ndewe1: 5000, uye mumwe chete ndewe 1: 7891). Kana pane zvinopesana, saka kubvunzurudzwa ne geneticist kunodiwa.

Zviratidzo zveTrisomy 13 muvana

Izvi zvinokonzera kukanganisa zvakanyanya mukusimudzirwa kwemwana, izvo zvinogona kuonekwa pane ultrasound:

• chimiro chakaipa chechiso: maziso ari pedyo kwazvo, mhepo yakanyorova, rudiro rutsanga rwepamusoro (zvose muromo uye denga), kukanganisa kwe nzeve nemhino;
• kuvapo kweimwe minwe nezvimwe zvisina kunaka pamakumbo;
• zvikanganiso zvenhengo dzomukati: mwoyo, itsvo, pancreas, nezvimwewo.

Kazhinji kacho, kuberekwa kwakadaro kunosangana ne polyhydramnios uye uremu hudiki hwemucheche. Vana vane chirwere ichi vanowanzofa mumavhiki ekutanga mushure mekusununguka.