Lub rau hli ntuj 17, 2011

NEW YORK - Cov poj niam uas muaj hnub nyoog yug me nyuam yuav tsum zoo siab nrog cov xov xwm: Cov tuam txhab Asmeskas tau ua haujlwm txhawm rau txhim kho kev kuaj ntshav rau tus mob Down uas yog qhov tseeb dua li cov uas muaj tam sim no sai li sai tau. Qhov kev xeem no tuaj yeem cawm ntau tus poj niam los ntawm kev muaj amniocentesis.

Qhov kev ntsuam xyuas ua rau nws muaj peev xwm rov qab tau menyuam hauv plab DNA hauv ntshav niam, thaum cuaj lub lim tiam ntawm cev xeeb tub, ua ntej nws pom tseeb rau cov neeg nyob ib puag ncig nws. Txog thaum ntawd, amniocentesis, kev sim uas cuam tshuam nrog tshem cov kua amniotic los ntawm kev txhaj koob tshuaj rau hauv niam lub plab, tuaj yeem ua tiav tsuas yog plaub lub hlis ntawm cev xeeb tub, lossis ntau dua.

Down's syndrome yog kab mob caj ces uas ua rau muaj kev puas siab ntsws thiab lub cev qeeb. Cov neeg uas raug kev txom nyem los ntawm nws muaj lub ntsej muag flattened, caj dab luv, thiab txhais tes thiab taw me dua. Lawv muaj qhov pheej hmoo txaus ntshai ntawm teeb meem, tshwj xeeb yog mob plawv lossis hnov ​​lus. Lawv lub neej nyob ib puag ncig 21 xyoos.

Feem ntau, trisomy 21 tau kuaj pom tom qab yug los, tab sis yog tias qhov kev kuaj ntshav tshiab no tau dav dav, nws yuav ntev ua ntej. Txawm hais tias kev kuaj mob xeeb menyuam tuaj yeem sawv cev rau qhov teeb meem nyuaj rau cov khub niam txiv uas yuav tsum txiav txim siab seb puas yuav rho menyuam tawm. Vim tias niam txiv ntawm menyuam yaus nrog Down's syndrome ntsib teeb meem ob qho tib si hauv kev kawm thiab saib xyuas tus menyuam no uas dhau los ua neeg laus, lub sijhawm nyuaj rau cov niam txiv laus, hais tias tus kws kho mob. Mary Norton, tus xibfwb ntawm kws kho menyuam yaus thiab kws kho mob poj niam ntawm Stanford University.

Rau nws ib feem, Dr. Brian Skotko, tus kws kho mob tshwj xeeb hauv Down's syndrome ntawm Boston Tsev Kho Mob Me Nyuam Yaus, ntseeg tias "feem coob ntawm cov menyuam uas muaj tus mob Down thiab lawv tsev neeg hais tias lub neej no muaj txiaj ntsig heev." Nws yog tus sau kab lus tshawb fawb txog kev siv kws kho mob thiab cuam tshuam nrog kev tshaj tawm txog kev kuaj mob ntawm trisomy.

Thaum xub thawj, cov kws kho mob xav kom khaws qhov kev xeem no rau cov poj niam uas muaj kev pheej hmoo, tshwj xeeb tshaj yog cov muaj hnub nyoog 35 xyoos. Thaum kawg, nws tuaj yeem hloov qhov kev sim niaj hnub muab rau ib tus poj niam cev xeeb tub. Vim tias nws muab tsawg dua qhov ceeb toom tsis tseeb ntau dua li kev sim tam sim no, tsawg dua poj niam yuav raug muab amniocentesis tsis tsim nyog, cov kws tshaj lij hais. Thiab txij li qhov kev pheej hmoo ntawm nchuav menyuam yog xoom, cov poj niam tuaj yeem raug caw tuaj koom kom xa mus rau nws. Vim li ntawd, cov poj niam uas paub tias lawv cev xeeb tub nrog tus menyuam uas muaj tus mob Down tuaj yeem nce ntxiv.

Ob lub tuam txhab hauv xeev California, Sequenom thiab Verinata Health, vam tias yuav muab qhov kev sim rau Asmeskas kws kho mob ua ntej lub Plaub Hlis tom ntej. Cov tuam txhab no cia siab tias lawv yuav tso tawm thaum thawj peb lub hlis xyoo 2012, uas Sequemon muaj txiaj ntsig los ntawm 10 lub lis piam cev xeeb tub, ntawm Verinata, los ntawm yim lub lis piam. Cov txiaj ntsig yuav muaj xya txog kaum hnub tom qab. Rau nws ib feem, LifeCodexx AG, lub tuam txhab German, tshaj tawm tias nws xav ua nws qhov kev xeem muaj rau European kev lag luam txij thaum kawg ntawm 2011, kev sim uas tuaj yeem ua tau ntawm 12^e thiab 14^e lub lim tiam Tsis muaj ib lub tuam txhab no hais txog tus nqi.

Vim tias qhov kev xeem muab cov lus teb thaum ntxov, ua ntej pom tias cev xeeb tub lossis leej niam xav tias nws tus menyuam txav mus los, nws tuaj yeem tso cai rau kev tso tseg cev xeeb tub ua ntej xaus ntawm thawj peb lub hlis twg. Brian Skotko hais ntxiv tias "Tsis muaj leej twg xav paub tias koj cev xeeb tub," Tej zaum koj tseem tsis tau qhia rau koj tus txiv ".

Nancy McCrea Iannone ntawm New Jersey tau yug menyuam ntxhais nrog Down syndrome rau xyoo dhau los. Nws tau hais tias "Kuv yuav tau nyiam qhov kev sim tsis cuam tshuam rau qhov teeb meem ntawm seb puas yuav muaj qhov tsis nco qab," nws hais. Txawm hais tias nws ntshai kev nchuav menyuam thiab "rab koob hauv nws lub plab", thaum kawg nws tau pom zoo los kuaj qhov no. Tam sim no nws qhia tswv yim yav tom ntej ntawm cov menyuam yaus nrog Down's syndrome thiab hais txog qhov xav tau kom paub txog kev kuaj mob ua ntej yug menyuam txhawm rau npaj rau nws.

Xov xwm los ntawm © The Canadian Press, 2011.