Fetal karyotype rau tib neeg yog ib qho ua ke ntawm cov cim ntawm nws cov teeb chromosomal. Ib tug neeg chromosome yog 46, 22 ntawm lawv yog autosomes thiab ib khub ntawm kev sib deev chromosomes. Los txiav txim rau tib neeg karyotype, nws lub hlwb siv, staining lawv nrog dyes, photographing thiab kuaj cov chromosomes los ntawm microscopy. Nyob rau tib lub sijhawm, cov naj npawb ntawm chromosomes, lawv cov nta thiab cov yam ntxwv muaj zog yog kawm. Cov kab mob chromosomal muaj peev xwm kuaj tau los ntawm kev hloov ntawm cov chromosomes (tshwj xeeb tshaj yog kev sib deev chromosomes), los yog lwm yam intrachromosomal thiab interchromosomal rearrangements.
Yuav ua li cas ua karyotyping ntawm fetus?
Kaujotyping ntawm fetus yog tsim nyog rau kev kuaj mob ntawm chromosomal kab mob. Rau qhov no, cov me nyuam hauv plab yuav tsum tau muaj: chorion villi los yog amniotic kua.
Ib qho kev ntsuam xyuas tag nrho los sis ib nrab ntawm tus me nyuam hauv plab karyotype tuaj yeem ua tau. Ntawm kev tshawb fawb tag nrho, tag nrho cov txheej ntawm chromosomes ntawm fetus yog soj ntsuam, tab sis lub sij hawm kawm yog ntev heev - 14 hnub. Thiab nrog ib nrab txoj kev kawm rau 7 hnub, tsuas yog cov chromosomes, cov teeb meem uas qhia tias cov kab mob caj ces ( Down's Syndrome , Patau lossis Edwards). Feem ntau nws yog 21, 13, 18 khub ntawm chromosomes thiab sib deev chromosomes.
Kawm kev sib deev ntawm chromosomes
Ntau tus niam txiv xav paub txog tus me nyuam ntawm tus me nyuam ua ntej yug tus me nyuam, thiab ultrasound tsis tas pom qhov no, tab sis karyotyping txiav txim tias tus txiv neej zoo heev. Tab sis karyotyping nrog rau txoj kev tshawb no ntawm kev sib deev chromosomes tsis tau ua txhua yam rau qhov no. Qee tus menyuam hauv plab carotid 46 XX yog karyotype ntawm ib tug ntxhais, tab sis yog hais tias X chromosome ntau tshaj ob (feem ntau 3 yog trisomy X, los yog ntau tshaj 3 yog polysomy X), ces qhov no yog qhov kev pheej hmoo ntawm hlwb ruamqauj, psychosis. Tab sis monosomy X (ib X-chromosome) yog karyotype ntawm Shershevsky-Turner syndrome.
Cov menyuam hauv plab hnyuv laus ntawm 46 XY yog karyotype ntawm ib tug tub. Tab sis ib tug me nyuam uas muaj karyotype ntawm XXU (polysomy ntawm X chromosome rau cov txiv neej) yuav yug los nrog Klinefelter tus syndrome, thiab ib tug tub nrog polysomy rau Y chromosome yuav muaj kev loj hlob, qee lub hlwb ruamqauj thiab nce aggression.
Cov kev qhia rau fetal karyotyping
Cov kev qhia rau karyotyping prenatal yog:
- lub hnub nyoog ntawm cov niam txiv laus dua 35, lawv cov kev sib raug zoo nrog ntshav;
- hauv tsev neeg no muaj cov menyuam yaus uas muaj kev sib deev los yog muaj kev xeeb tub ntawm cov menyuam yaus uas muaj kev sib deev, tsis tuaj yeem ua rau tus menyuam, tsis tuaj yeem cuam tshuam rau kev xeeb tub los ntawm kev paub txog kev tsis haum xeeb ntawm tus menyuam hauv plab;
- teeb meem ua haujlwm raug mob thiab niam txiv lub neej, kev coj cwj pwm phem (quav yeeb quav tshuaj los yog quav dej caw);
- kis kab mob nyob rau hauv thawj peb lub hlis ntawm cev xeeb tub;
- suspicions ntawm congenital kab mob nrog ultrasound tshawb xyuas nyob rau hauv 1 thiab 2 trimester ntawm cev xeeb tub.