Trisomy 21

I-Trisomy kuma-chromosomes angama-21 ayikho nto ngaphandle kwe-Down's syndrome (syndrome). Le ntsholongwane i-chromosomal kwaye idibaniswa, okokuqala, ngokuphula umthetho oqhelekileyo wenkqubo ye-fission, i-meiosis yeeseli zesini. Ngenxa yoko, ii-kromosomes ezingaphezulu ezingama-21 zenziwe.

I-trisomy 21 i-chromosomes ayinqabile. Ngokutsho kwedatha yeenkcukacha, loo meko ibonwa 1 ixesha lokuzalwa kwama-600-800. Ngexesha elifanayo, kuboniswa ukuba ubukhulu becala lophuhliso lwe-pathology lukhula kunye nokwanda kwenkwenkwe yowesifazane ohamba phambili.

Ziziphi izizathu zokuphuhlisa i-trisomy 21 i-chromosomes?

Ukuze uqonde oko kuthetha ukuthini i-trisomy 21 i-chromosomes, kuyimfuneko ukwazi izizathu kunye neempawu zale pathologia. Kuze kube ngoku, akukho sizathu esithile sophuhliso lwezilwanyana. Inzululwazi ezininzi zifikelela kwisigqibo sokuba lesi sifo senziwa ngenxa yeendlela ezininzi zokusebenzisana phakathi kwamagciwane, oko ekugqibeleni kukhokelela ekwakheni i-trisomy. Kule meko, izakhi zofuzo ziba nzima. Ngenxa yokungalingani okubonakalayo, ukuphuhliswa okuqhubekayo kwendalo, ngokukodwa kwimiba yengqondo, kuphazamiseka. Kwimizimba engama-400 ekhoyo kuma-chromosomes angama-21, umsebenzi oninzi awunakunikwa, okwenza kube nzima ukufumanisa isizathu.

Kuphela, mhlawumbi, wafunda ingozi yokuphuhliswa kwesi sifo uneminyaka yabazali. Ngoko, ngexesha lophando, kwafunyaniswa ukuba kuma-25 amabhinqa amathuba okuba nomntwana one-Down syndrome ngu-1/1250, eneminyaka engama-35 ukuya kwe-1/400, kwaye ngeminyaka engama-45 ubudala kwaba-1 kwabantwana abazalwa ngoku-30 ​​banalo le pathology. Ngethuba elifanayo, ithuba lokuba nomntwana one syndrome kubazali abane-pathology efanayo i-100%. Nangona kunjalo, ukuba umntwana omnye ene-Down's syndrome wazalwa kwabazali abanempilo, ithuba lokuba nomntwana wesibini onalo-pathology ofanayo ngu-1%.

Uhlolwe njani ukugula?

Ukukhuphela ukungaqhelekanga kunye nokuvela kwama-chrisosomes angama-21 kuma-pregnant women pregnant, okubizwa ngokuba yi- screening kwenziwa kwinqanaba lokuqala lokukhulelwa. Ngexesha elifanayo, wenza i-survey ukuba ingabandakanyi i-trisomy ye-13 ne-18 yama-chromosomes. Ukwenza oku, i-sampuli yegazi iqhutyelwa kwikota ye-10-13. Kuthathwe isampuli ye-biomaterial kufakwe kwisixhobo esikhethekileyo, apho kuvela khona ubukho bempilo.

Ukuqwalaselwa kwe-trisomy 21, ukwenzela ukuba umphumo ochanekileyo, izibonakaliso eziqhelekileyo, kunye neziganeko ezingafaniyo ezifana nobudala, ubunzima, inani lamabele, ubukho okanye ukungabikho kwemikhwa emibi, njl njl. ucebisana ngokucetyiswa ngogqirha.

Nangona kunjalo, iziphumo zolu cwaningo azikwazi ukukhonza njengeyona ndlela efanelekileyo yokufumanisa i-Down's syndrome. Iziphumo zovavanyo zibonisa ukuba uphinde uhlolisise i-fetus usebenzisa iindlela ezingenayo. Ukuba kukho umngcipheko ophezulu wokuphulukisa i-pathology, i-chorion puncture iqhutyelwa rhoqo, kunye ne-amniocentesis kunye nokuhlolwa kofuzo lwezinto eziqokelelweyo.

Uphi na ukuhlolwa kweso sini na?

Ngokuqhelekileyo, uhlalutyo lwe-trisomy 21 i-chromosomes lwenziwa ngo-1 trimester, ngakumbi kwiiveki ezi-10 ukuya kwe-13. Izibonakaliso zokuziphatha kwazo zikho ezi zinto zilandelayo:

• Umfazi okhulelweyo uneminyaka engama-35 nangaphezulu;
• ubukho kwi-anamnesis yeengxaki ezinzima, kunye nokukhulelwa okungachazwanga;
• i-chromosomal pathologies, kunye neengxaki zokuzalwa ezingasemva kokukhulelwa kwangaphambili;
• ubukho kwintsapho yezifo ezizalwayo;
• ezahlukahlukeneyo zidlulise izifo ezithathelwanayo, imisebe yelanga, kunye nokwamkelwa kwinqanaba lokuqala lokukhulelwa kwezidakamizwa ngefuthe le-teratogenic.