Fetal karyotype ho batho ke motsoako oa lipontšo tsa setho sa eona sa chromosomal. Chromosome ea motho ke 46, 22 ea tsona ke autosomes le li-chromosome tse peli tsa thobalano. Ho tseba karyotype ea motho, lisele tsa eona li sebelisoa, ho li silafatsa ka limela, ho nka lifoto le ho hlahloba li-chromosome ka microscopy. Ka nako e tsoanang, palo ea li-chromosome, boholo ba tsona le likarolo tsa morphological li ithutoa. Maloetse a mangata a chromosomal a ka fumanoa ke phetoho palo ea li-chromosomes (haholo-holo li-chromosome tsa thobalano), kapa ka liphetoho tse ling tsa intrachromosomal le interchromosomal.
Karyotyping ea fetus e joang?
Karyotyping ea pelehi ea lesea e hlokahalang bakeng sa ho fumanoa ka mafu a chromosomal. Bakeng sa sena, lisele tsa fetallo lia hlokahala: chorion villi kapa amniotic fluid.
Ho hlahloba ka botlalo kapa ka tsela e lekaneng ea karyotype ea fetal ho ka etsoa. Ha ho etsoa lipatlisiso ka botlalo, setho se seng sa li-chromosome tsa fetus se hlahlojoa, empa nako ea ho ithuta e telele ka matsatsi a 14. Hape ka thuto e se nang moeli ka matsatsi a 7, ke li-chromosome feela, mathata ao ho oona ho bonang mafu a liphatsa tsa lefutso ( Down's Syndrome , Patau kapa Edwards). Ka tloaelo ho na le li-chromosomes tse 21, 13, 18 tse 18 le li-chromosome tsa thobalano.
Ho ithuta ka li-chromosome tsa thobalano
Batsoali ba bangata ba batla ho tseba boemo ba ngoana pele ho tsoaloa, 'me ha e le hantle, ultrasound ha e bontše sena ka botšepehi, empa karyotyping e khetholla thobalano ka mokhoa o nepahetseng. Empa karyotyping le thuto ea li-chromosome tsa thobalano ha e etsoe ho sena bakeng sa sena. Bothata bo tloaelehileng ba carotid 46 XX ke karyotype ea ngoananyana, empa haeba X ea chromosome e feta tse peli (hangata 3 ke trisomy X, kapa ho feta 3 ke ho hlahloba X), joale ke kotsi ea ho lebala kelellong, psychosis. Empa monosomy X (e le 'ngoe X-chromosome) ke karyotype ea lefu la Shershevsky-Turner.
Karyotype e tloaelehileng ea fetal ea 46 XY ke karyotype ea moshemane. Empa ngoana ea nang le karyotype ea XXU (ho hlahloba X chromosome ho banna) o tla tsoaloa ka lefu la Klinefelter, mme moshanyana ea nang le ts'oaetso ea chromosome ea Y o tla ba le kgolo e kholo, ho lemalloa kelellong le ho eketseha ka mabifi.
Lipontšo tsa fetal karyotyping
Litlhaloso tsa karyotyping ea bakhachane ke:
- lilemo tsa batsoali ba fetang 35, kamano ea bona ea mali;
- malapeng ana moo ho se ho ntse ho e-na le bana ba nang le mathata a mangata kapa ho na le bokhachane bo batang ba bana ba nang le bokooa, ho senyeha ha maikutlo ka nako e le 'ngoe, ho senyeha ha bokhachane ka lebaka la ho khetholla ho se lumellane le ho hōla ha bokhachane;
- maemo a kotsi a sebetsang le bophelo ba batsoali, litloaelo tse mpe (ho lemalla lithethefatsi kapa tahi);
- mafu a tšoaetso ea kokoana-hloko nakong ea pele ea boraro ea bokhachane;
- ho belaella mafu a congenital le lipatlisiso tsa ultrasound ka 1 le 2 trimester ea bokhachane.