Dab tsi yog qhov ua rau cov pathologies no thiab dab tsi yog qhov uas yuav muaj tus me nyuam nrog trisomy nyob rau hauv 21 18 18 13 chromosome - cia peb sim paub.
Pathophysiology ntawm Kab Mob
Cov kab mob kis tau zoo tshaj plaws hauv lub cev - trisomy rau 13, 18, los yog 21 chromosomes tshwm sim los ntawm cov khoom tsis zoo ntawm cov khoom siv hauv cov txheej txheem ntawm cell division. Hauv qab no, tus me nyuam hauv plab los ntawm niam txiv los ntawm ob qho kev sib tshooj chromosomes, thiab ib daim ntxiv ntawm 13, 18 los yog 21 chromosomes tsis pub kom muaj kev puas hlwb thiab lub cev loj hlob.
Raws li kev txheeb cais, trisomy rau ntawm 21st chromosome (Down's cider) tshwm sim ntau ntau dua li trisomy rau chromosomes 13 thiab 18. Thiab lub neej kev cia siab ntawm cov me nyuam yug los nrog Patau thiab Edwards syndromes, raws li txoj cai, tsawg tshaj li ib xyoos. Thaum cov nqa ntawm peb daim qauv ntawm 21st chromosome ciaj sia mus rau cov laus laus.
Tab sis txhua zaus, cov me nyuam uas muaj kev sib thooj sib luag zoo tsis tuaj yeem ua neeg koom nrog zej zog, peb tuaj yeem hais tias lawv raug kev kho siab thiab kev txom nyem. Yog li, cov poj niam cev xeeb tub uas, tom qab ua tiav kev ntsuam xyuas biochemical, pom tias muaj kev pheej hmoo siab ntawm trisomy rau lub 13th, 18th, 21st chromosome, ntxiv mus kuaj. Yog tias tus mob paub tseeb hais tias, lawv yuav raug hais kom tsis txhob muaj menyuam hauv plab.
Trisomy 21 18 13: kev txheeb xyuas ntawm kev soj ntsuam
Txoj kev pheej hmoo ntawm muaj menyuam yaus nrog trisomy ntawm 21, 18, lossis 13th chromosome nce nrog lub hnub nyoog nrog leej niam, tab sis qhov no tsis tuaj yeem raug tshem tawm ntawm cov ntxhais hluas. Yuav kom txo tau cov menyuam yaus uas yug los nrog cov kab mob no, cov kws tshawb fawb tau tsim cov kev qhia tshwj xeeb uas cia ib tug xav tias ib yam dab tsi tsis yog thaum cev xeeb tub.
Thaum thawj theem ntawm kev kuaj mob, cov niam txiv yav tom ntej, cov kws kho mob tau pom zoo kom xeem dhau cov kev ntsuam xyuas, tshwj xeeb tshaj yog, kev ntsuam xyuas peb lub xeem. Txij li ntawm 15-20 lub lim piam, tus poj niam muab ntshav ntsuas, raws li qib uas tau txiav txim siab: AFP (alpha-fetoprotein), estriol, hCG thiab inhibin-A. Lub tom kawg yog cov cwj pwm ntawm kev loj hlob thiab kev mob ntawm tus me nyuam hauv plab.
Txhawm rau tsim kom muaj qhov kev pheej hmoo ntawm trisomy rau ntawm 21, 18, 13 chromosome, lub hnub nyoog kev cai sib piv cov cim tau. Nws paub hais tias cov poj niam muaj feem yuav tsim tau tus mob fetal Down syndrome:
- nyob rau hauv hnub nyoog ntawm 25 1: 1250;
- nyob rau hauv 30 xyoo - 1: 1000;
- hauv 35 xyoo - 1: 400;
- nyob rau hauv 40 xyoo - 1: 100;
- nyob rau hauv cov poj niam cev xeeb tub tshaj 45, txoj kev pheej hmoo ntawm kev mob ntawm lub cev qeeb zuj zus - 1 txog 40 xyoo.
Piv txwv, yog tias qhov kev ntsuam xyuas ntawm tus poj niam muaj hnub nyoog 38 xyoos yog 1:95, qhov no qhia tau tias yuav muaj kev pheej hmoo siab ntxiv thiab xav tau kev ntsuam xyuas ntxiv. Rau qhov kawg kev kuaj, txoj kev xws li chorion biopsy , amniocentesis , cordocentesis, placentocentesis yog siv.
Qhov kev vam khom ntawm txoj kev pheej hmoo ntawm kev muaj me nyuam nrog trisomy 13, 18, nyob ntawm lub hnub nyoog ntawm leej niam, nws tseem siv, tab sis nws tsis qhia tau tsawg tshaj li ntawm trisomy 21. Nyob rau hauv 50%, lub deviations yog visualized thaum lub caij ultrasound. Rau ib tus kws kho mob tshwj xeeb, nws tsis yooj yim los txiav txim siab Edwards los yog Patau syndrome los ntawm yam ntxwv.
