I-Trisomy 21

I-Trisomy kuma-chromosomes angu-21 ayiyona into ngaphandle kwe-Down's syndrome (syndrome). Lezi zifo zitholakala nge-chromosomal futhi zihlotshaniswa, okokuqala, ngokuphulwa kwendima evamile yenqubo ye-fission, i-meiosis yamaseli wesondo. Ngenxa yalokho, kwakhiwa amanye ama-chromosome angama-21.

Ama-chromosomes ama-Trisomy angu-21 ajwayelekile. Ngokusho kwedatha, imininingwane enjalo ibonakala ngesikhathi sokuzalwa kuka-600-800. Ngesikhathi esifanayo, kubonakala ukuthi imvamisa yentuthuko ye-pathology ikhula ngokukhula kowesifazane wesifazane.

Ziyini izimbangela zokuthuthukiswa kwama-chromosomes trisomy 21?

Ukuze uqonde ukuthi kusho ukuthini i-trisomy 21 chromosomes, kubalulekile ukwazi izimbangela kanye nezici zalesi sifo. Kuze kube manje, asikho isizathu esithile sokuthuthukiswa kwezifo. Ososayensi abaningi bafinyelela esiphethweni sokuthi lesi sifo sitholakala ngenxa yokuxhumana okuningi phakathi kwama-genes, okuyinto ekugcineni eholela ekwakheni i-trisomy. Kulokhu, izakhi zofuzo zomuntu ngamunye zisebenza ngokwengeziwe. Ngenxa yokungalingani okubonakalayo, ukuthuthukiswa okuqhubekayo kwezinto eziphilayo, ikakhulukazi isigaba se-psychoemotional, kuphazanyiswa. Emagenjini angu-400 akhona kuma-chromosomes angu-21, umsebenzi omkhulu awusungulwa, okwenza kube nzima ukukhomba imbangela.

Owukuphela, mhlawumbe, wafunda ingozi engozini yokuthuthukiswa kwesifo yisikhathi sabazali. Ngakho-ke, phakathi nocwaningo, kutholakala ukuthi kubesifazane abaneminyaka engama-25 amathuba okuba nengane ene-Down syndrome ingu-1/1250, eneminyaka engu-35 - 1/400, kanti ngeminyaka engu-45 kwezingane ezingu-30 ezizalwa zine-pathology. Ngesikhathi esifanayo, amathuba okuba nengane nale syndrome kubazali abane-pathology efanayo i-100%. Kodwa-ke, uma ingane eyodwa ene-Down's syndrome izalwa kwabazali abanempilo, amathuba okuba nengane yesibili ene-pathology efanayo i-1%.

Ukuhlolwa kwesifo kutholakala kanjani?

Ukukhipha ukungajwayelekile nokutholakala kwama-chrisosome ama-trisomy angu-21 kwabesifazane abakhulelwe, okuthiwa ukuhlolwa kuyenziwa ku-trimester yokuqala yokukhulelwa okukodwa. Ngesikhathi esifanayo, futhi wenza ucwaningo lokukhipha i-trisomy yama-chromosomes angu-13 no-18. Ukuze wenze lokhu, isampula legazi senziwa ngesikhathi sokuphela kwamasonto ayishumi kuya ku-10-13. Isampula esithathiwe se-biomaterial ifakwa kudivayisi ekhethekile, lapho khona ukutholakala kwempilo kunqunywa khona.

Ukuhlolwa kwe-trisomy 21, ukuze kube nomphumela onembile, izinkomba zokujwayelekile, kanye nezici ezingaqondile ezifana nobudala, isisindo, inani lamantombazane, ukutholakala noma ukungabikho kwemikhuba emibi, njll kubalwa. Ngemva kokuqhuba isifundo esigcwele nokubala ingozi yokuthuthukisa i-trisomy. ukubonisana okuhleliwe nomjozi wezifo zogciwane.

Noma kunjalo, imiphumela kuphela yalolu cwaningo ayikwazi ukusebenza njengendlela yokubheka i-Down's syndrome. Imiphumela yokuhlola iyingqikithi yokuhlolwa okuqhubekayo kwe-fetus esebenzisa izindlela ezingavamile. Uma kunengozi enkulu yokuthuthukisa i-pathology, i-chorion puncture iyenziwa kaningi, kanye ne-amniocentesis ene-genetic examination yezinto eziqoqwe.

Ukuhlolwa kwanikezwa nini futhi kubani?

Ngokujwayelekile, ukuhlaziywa kwama-chromosomes ka-trisomy 21 kwenziwa ngo-1 trimester, ikakhulukazi emavikini angu-10-13. Izinkomba zokuziphatha kwazo zikhona izici ezilandelayo zengozi:

• unyaka wesifazane okhulelwe uneminyaka engama-35 nangaphezulu;
• ukuba khona ku-anamnesis wezinkinga ezinkulu, kanye nokukhulelwa okungaqondakali;
• i-chromosomal pathologies, kanye nezinkinga zokuzalwa ezingenasifo ekukhulelweni kwangaphambilini;
• ukutholakala emndenini wezifo ezibelethwe ngokuzalwa;
• izifo ezihlukahlukene ezithintekayo ezithathelwanayo, imisebe yemisebe, kanye nokwamukelwa ezinyangeni zokuqala zokukhulelwa kwezidakamizwa ngomphumela we-teratogenic.