I-karyotype ye-fetal kubantu iyinhlanganisela yezibonakaliso zesethi yayo ye-chromosomal. I-chromosome yomuntu ingama-46, angu-22 kuwo angama-autosomes ne-pair of chromosomes yobulili. Ukuze unqume i-karyotype yomuntu, amangqamuzana ayo asetshenziselwa ukuwagcoba ngamadaysi, ukudweba nokuhlola ama-chromosomes nge-microscopy. Ngesikhathi esifanayo, inani lama-chromosomes, ubukhulu bawo nezici zokuziphatha zifundwa. Izifo eziningi ze-chromosomal zingatholakala ngoshintsho kwinombolo yama-chromosomes (ikakhulukazi ama-chromosomes ngokocansi), noma nganoma yikuphi ukulungiswa kabusha kwe-intrachromosomal kanye ne-interchromosomal.
I-karyotyping ye-fetus?
I-karyotyping enganeni ngaphambi kokubeletha iyadingeka ukuze kutholakale izifo ze-chromosomal. Ngenxa yalokhu, amangqamuzana e-fetal ayadingeka: i-chorion villi noma i-amniotic fluid.
Ukuhlolwa okuphelele noma okuyingxenye ye-karyotype ye-fetal kungenziwa. Ekucwaningeni okugcwele, isethi yonke yama-chromosomes we-fetus ahlaziywa, kodwa isikhathi sokutadisha side isikhathi eside - izinsuku ezingu-14. Futhi ngokutadisha okuyingxenye izinsuku ezingu-7, kuphela lawo ma-chromosomes, kuphela izinkinga ezibonisa izifo zofuzo ( Down's Syndrome , Patau noma Edwards). Ngokuvamile kungama-21, 13, 18 ama-chromosomes nama-chromosomes ocansi.
Ukufundwa kwama-chromosomes ocansini
Abazali abaningi bafuna ukwazi ubulili bomntwana ngaphambi kokuzalwa, futhi i-ultrasound ayibonisi njalo lokhu ngokuthembekile, kodwa i-karyotyping inquma ubulili ngokunembile. Kodwa i-karyotyping nokucwaninga kwama-chromosomes ocansi akukwenziwe nakancane ngalokhu. I-carotid evamile yengane 46 i-karyotype yentombazane, kodwa uma i-chromosome ye-X ingaphezu kwamabili (ngokuvamile kaningi i-trisomy X, noma ngaphezulu kuka-3 yi-polysomy X), khona-ke lokhu kuyingozi yokuzilahla kwengqondo, ingqondo. Kodwa i-monosomy X (eyodwa ye-X-chromosome) i-karyotype ye-Shershevsky-Turner syndrome.
I-karyotype evamile yengane ye-46 XY i-karyotype yomfana. Kodwa ingane ene-karyotype ye-XXU (i-polyomi ye-X chromosome emadodeni) izozalwa nge-Klinefelter's syndrome, futhi umfana onesifo se-polysomy ku-Y chromosome uyoba nokukhula okuphezulu, ukuphuza kwengqondo nokunyuka okukhulu.
Izinkomba ze-karyotyping yesisu
Izinkomba ze-karyotyping ngaphambi kokubeletha ziyi:
- iminyaka yabazali abadala kunama-35, ubudlelwano babo begazi;
- kulo mndeni kukhona kakade abantwana abanezinkinga noma ukukhulelwa okufriziwe kwezingane ezinokukhubazeka, ukuphazamiseka okuzenzekelayo, ukuphazanyiswa kokukhulelwa ngenxa yokuhlonza okungahambi kahle kokuthuthukiswa komntwana wesibalo;
- izimo zokusebenza eziyingozi nokuphila kwabazali, imikhuba emibi (ukulutha izidakamizwa noma ukuphuza utshwala);
- izifo zengculazi ku-trimester yokuqala yokukhulelwa;
- ukusola kwezifo ezitholayo ngokuphenywa kwe-ultrasound ngo-1 no-2 trimester wokukhulelwa.