I-karyotype ye-fetali ebantwini idibanisa impawu ye-chromosomal set set. I-chromosome yomntu ingama-46, i-22 yazo i-autosomes kunye ne-pairs ye-chromosomes yesini. Ukucacisa ikaryotype yabantu, iiseli zayo zisetyenzisiwe, zibahlambela ngeidayi, zifotye kwaye zihlole i-chromosomes nge-microscopy. Ngexesha elifanayo, inani lama-chromosomes, ubukhulu babo kunye neempawu ze-morphological zifundwa. Izifo ze-chromosomal zinokufunyanwa ngenguqu yee-chromosomes (ngokukodwa i-chromosomes zesondo), okanye nayiphi na enye i-intrachromosomal and interchromosomal rearrangements.
I-karyotyping ye-fetus?
I-karyotyping yangaphantsi kokubeletha iyimfuneko yokuxilongwa kwezifo ze-chromosomal. Ngenxa yoko, iiseli ze-fetal ziyadingeka: i-chorion villi okanye i-amniotic fluid.
Uviwo olupheleleyo okanye olukhethekileyo lwekaryotype yesisu lungenziwa. Xa uphando olupheleleyo, isethi yonke yama-chromosomes of the fetus ihlalutyiweyo, kodwa ixesha lokufunda lide lide ezili-14 iintsuku. Kwaye kunye neentsuku ezi-7, kuphela ezo i-chromosomes, iingxaki ezibonisa izifo ze-genetic ( Down's Syndrome , Patau okanye Edwards). Ngokuqhelekileyo yi-21, 13, 18 yezibini ze-chromosomes kunye nama-chromosomes esini.
Ukufunda nge-chromosomes yesondo
Abazali abaninzi bafuna ukwazi ubulili bomntwana ngaphambi kokuzalwa, kwaye i-ultrasound ayisoloko ibonisa oku kuthembekileyo, kodwa i-karyotyping ibeka isondo ngokuchanekileyo. Kodwa i-karyotyping kunye nokufunda i-chromosomes yesondo ayenziwanga konke ngenxa yale nto. Uhlobo lwe-fetal carotid 46 I-karyotype yintombazana, kodwa ukuba i-X i-chromosome ingaphezu kwembini (ininzi i-trisomy X, okanye ngaphezulu kwe-3 i-polysomy X), ke le mngcipheko wokulibala kwengqondo, ingqondo yengqondo. Kodwa i-monosomy X (enye ye-X-chromosome) i-karyotype yesifo seShershevsky-Turner.
I-karyotype ye-fetal eqhelekileyo ye-46 XY yikaryotype yenkwenkwana. Kodwa umntwana onekaryotype ye-XXU (i-polysomy ye-X-chromosome yamadoda) uza kuzalwa kunye ne-Klinefelter's syndrome, kwaye inkwenkwe ene-polysomy kwi-Y chromosome iya kuba nokukhula okuphezulu, ukukhulelwa kwengqondo kunye nokunyusa.
Iimpawu zokutshatyalaliswa komzimba
Izibonakaliso zekaryotyping zokubeletha zi:
- yobudala babazali abangaphezu kwama-35, ubudlelwane babo begazi;
- Kule ntsapho kukho iivele abantwana abanokukhubazeka okanye kukho ukukhulelwa okhatywayo kwabantwana abanokukhubazeka, ukuphazamiseka okungafaniyo, ukuphazamiseka kokukhulelwa ngenxa yokuchonga okungahambelaniyo nokuphuhliswa komntwana;
- Izimo zokusebenza ezinobungozi kunye nokuphila kwabazali, imikhwa emibi (ukusetyenziswa kweziyobisi okanye utywala);
- izifo zentsholongwane kwi-trimester yokuqala yokukhulelwa;
- ukukhankanywa kwezifo ezithintekayo ngokuphenywa kwe-ultrasound kwi-1 ne-2 trimester yokukhulelwa.