Video: Puas yog kev kuaj mob rau Down syndrome?
2024 Tus sau: Edward Hancock | [email protected]. Kawg hloov kho: 2023-12-16 01:32
Counsyl Prelude™ Prenatal Screen: Tshawb nrhiav, thaum ntxov lub limtiam thib kaum ntawm cev xeeb tub, yog tias tus menyuam muaj kev pheej hmoo ntxiv rau cov mob chromosome xws li Down syndrome , thiab tuaj yeem txo qhov kev xav tau rau kev tawm tsam kuaj zoo li amniocentesis. Counsyl Prelude Prenatal Screen yog yav tas los hu ua Informed Pregnancy Screen.
Yog li ntawd, lub counsyl test rau dab tsi?
Lub tuam txhab, Counsyl , yog muag a xeem uas nws hais tias tuaj yeem qhia cov khub niam txiv seb lawv puas muaj kev pheej hmoo ntawm kev muaj menyuam nrog ntau yam kab mob, suav nrog cystic fibrosis, Tay-Sachs, spinal muscular atrophy, sickle cell disease thiab Pompe disease (tus uas cuam tshuam rau cov menyuam hauv yeeb yaj kiab).
Ib tug kuj yuav nug, dab tsi tuaj yeem ua rau qhov tsis zoo Down syndrome kuaj? Tab sis qee tus poj niam muaj DNA ntxiv ntawm cov chromosomes hauv nqe lus nug, cov kws tshawb fawb pom, uas ua rau tag nrho cov suav, tsim kom muaj qhov sib txawv. cuav - zoo tshwm sim. Lwm yam ua rau ntawm cuav - kuaj qhov zoo suav nrog qhov hu ua vanishing ntxaib syndrome ,” nyob rau hauv uas ib qho ntawm ntau lub fetuses yog nchuav.
Nyob rau hauv no hais txog, yuav ua li cas yog lub prelude xeem?
Counsyl Prelude ™ suav tias yog ntau dua raug dua li kev kuaj niam ntshav nrog qis xeem tsis ua hauj lwm tus nqi ntawm 0.1% thiab ua tau zoo txo qhov yuav tsum tau rau invasive txheej txheem xws li chorionic villus sampling (CVS) los yog amniocentesis.
Qhov kev xeem MaterniT21 yog qhov tseeb npaum li cas rau poj niam txiv neej?
Peb tuaj yeem ua qhov no xeem nyob ib ncig ntawm 10 lub lis piam, yog li nws tseem ntxov heev thaum cev xeeb tub, koj tab tom kuaj pom qhov tseeb DNA thiab cov qhov tseeb ntawm cov no kuaj yog hais txog 99% hais tias Dr. Mazin Abdullah, tus kws kho mob endocrinologist. xeem tseem yuav kuaj xyuas seb puas muaj teeb meem chromosome thaum ntxov, xws li downs syndrome.
Pom zoo:
Hom kev hlub twg yog kev sib koom ua ke ntawm kev mob siab rau kev sib raug zoo thiab kev mob siab rau lub sijhawm?
Kev hlub tshua
Puas yog Down syndrome tshwm sim los ntawm kev hloov pauv rau DNA?
Down syndrome yog ib qho chromosomal (txog rau koj cov DNA) teeb meem uas atypical cell division ua rau ib feem ntxiv ntawm chromosome 21 kom muaj nyob rau hauv ib co los yog tag nrho ntawm ib tug neeg lub hlwb
Puas yog txhua yam ntawm Down syndrome vim yog Nondisjunction?
Puas muaj ntau hom Down Syndrome? Down syndrome feem ntau tshwm sim los ntawm kev ua yuam kev hauv kev faib cell hu ua "nondisjunction." Nondisjunction ua rau lub embryo nrog peb daim ntawv luam ntawm chromosome 21 es tsis txhob ntawm ob li niaj zaus. Hom Down syndrome no, uas suav txog 95% ntawm cov neeg mob, hu ua trisomy 21
Dab tsi yog cov tsos mob ntawm Down syndrome hauv ultrasound?
Qee yam kev kuaj pom thaum lub sijhawm kuaj ultrasound thib ob yog cov cim cim rau Down's Syndrome, thiab lawv suav nrog lub paj hlwb ventricles, tsis tuaj los yog lub qhov ntswg me me, nce tuab ntawm sab nraub qaum ntawm caj dab, cov hlab ntsha txawv txav mus rau sab sauv sab sauv, ci ntsa iab hauv qhov chaw. lub plawv, 'caj' plab, me ntsis
Kev kuaj mob neuropsychological kuaj mob dab tsi?
Kev ntsuam xyuas neuropsychological, tseem hu ua kev ntsuam xyuas neuropsychological, yog kev ntsuas qhov tob ntawm cov txuj ci thiab lub peev xwm txuas nrog lub hlwb ua haujlwm. Kev ntsuas ntsuas xws li kev saib xyuas, kev daws teeb meem, kev nco, lus, I.Q., kev txawj pom kev pom, kev txawj ntse, thiab kev ua haujlwm ntawm kev xav