Kev kuaj mob ua ntej yug menyuam yog dab tsi?

Txhua tus poj niam cev xeeb tub tau nkag mus rau kev kuaj mob ua ntej yug menyuam (peb lub ultrasounds + kuaj ntshav peb lub hlis thib ob). Yog tias kev tshuaj ntsuam xyuas pom tias muaj kev pheej hmoo ntawm kev ua tsis zoo lossis qhov txawv txav rau tus menyuam, kev tshawb fawb ntxiv yog ua los ntawm kev kuaj mob ua ntej yug menyuam. Nws tso cai rau pom lossis tsis suav nrog qee qhov muaj tus menyuam hauv plab anomaly lossis kab mob. Raws li qhov tshwm sim, kev kwv yees tau npaj tseg uas tuaj yeem ua rau kev kho mob tsis pub cev xeeb tub lossis ua haujlwm ntawm tus menyuam thaum yug los.

Leej twg tuaj yeem tau txais txiaj ntsig los ntawm kev kuaj mob ua ntej yug menyuam?

Txhua tus poj niam uas muaj kev pheej hmoo ntawm kev yug menyuam nrog qhov tsis xws luag.

Nyob rau hauv cov ntaub ntawv no, lawv thawj zaug muab ib tug kho mob kev sab laj rau genetic counseling. Hauv kev xam phaj no, peb piav qhia rau cov niam txiv yav tom ntej txog kev pheej hmoo ntawm kev kuaj mob thiab qhov cuam tshuam ntawm qhov tsis zoo ntawm tus menyuam lub neej.

Kev kuaj mob ua ntej yug menyuam: dab tsi yog qhov txaus ntshai?

Muaj cov txheej txheem sib txawv, suav nrog cov txheej txheem uas tsis muaj kev cuam tshuam (tsis muaj kev pheej hmoo rau leej niam thiab tus menyuam hauv plab xws li ultrasound) thiab txoj kev tawm tsam (xws li amniocentesis, piv txwv). Cov no tuaj yeem ua rau mob qog lossis kis kab mob thiab yog li tsis tseem ceeb. Lawv feem ntau tsuas yog ua tiav yog tias muaj cov cim ceeb toom muaj zog ntawm kev puas ntsoog hauv plab.

Puas yog kev kuaj mob ua ntej yug menyuam tau them rov qab?

DPN tau them rov qab thaum nws tau txais kev kho mob. Yog li, yog tias koj muaj hnub nyoog 25 xyoos thiab koj xav ua amniocentesis xwb vim ntshai yug me nyuam nrog Down's syndrome, koj yuav tsis tuaj yeem thov nyiaj rov qab rau amniocentesis, piv txwv li.

Kev kuaj mob ua ntej yug menyuam rau lub cev malformations

Ultrasound. Ntxiv rau peb qhov kev tshuaj ntsuam xyuas ultrasound, muaj qhov hu ua "reference" ntse ultrasounds uas ua rau nws muaj peev xwm mus nrhiav qhov muaj qhov txawv txav ntawm morphological: ceg, plawv lossis lub raum malformations. 60% ntawm kev kho mob txiav tawm ntawm cev xeeb tub yog txiav txim siab tom qab kuaj xyuas no.

Kev kuaj mob ua ntej yug menyuam rau qhov txawv txav ntawm caj ces

Amniocentesis. Ua thaum 15 thiab 19 lub lim tiam ntawm cev xeeb tub, amniocentesis tso cai rau cov kua amniotic sau nrog rab koob zoo, nyob rau hauv kev tswj hwm ultrasound. Yog li peb tuaj yeem nrhiav qhov txawv txav ntawm chromosomal tab sis kuj muaj kev hloov pauv. Nws yog ib qho kev kuaj xyuas thiab kev pheej hmoo ntawm kev tsis sib haum xeeb ntawm cev xeeb tub mus txog 1%. Nws yog tshwj tseg rau cov poj niam uas muaj hnub nyoog 38 xyoo lossis nws cev xeeb tub raug txiav txim siab tias muaj kev pheej hmoo (tsev neeg keeb kwm, kev txhawj xeeb tshuaj ntsuam, piv txwv li). Nws yog nyob deb ntawm cov txheej txheem kuaj mob siv dav tshaj plaws: 10% ntawm cov poj niam hauv Fabkis siv nws.

Lub biopsy ntawm trophoblast. Ib lub raj nyias yog ntxig los ntawm lub ncauj tsev menyuam mus rau qhov chaw chorionic villi ntawm trophoblast (lub neej yav tom ntej placenta) nyob. Qhov no muab kev nkag mus rau tus menyuam DNA txhawm rau txheeb xyuas qhov tshwm sim ntawm chromosomal abnormalities. Qhov kev ntsuam xyuas no tau ua nyob nruab nrab ntawm 10 thiab 11 lub lim tiam ntawm cev xeeb tub thiab qhov kev pheej hmoo ntawm nchuav menyuam yog nyob nruab nrab ntawm 1 thiab 2%.

Kev kuaj ntshav niam. Qhov no yog txhawm rau nrhiav cov hlwb me me uas muaj me me hauv cov ntshav ntawm leej niam-rau-ua. Nrog rau cov hlwb no, peb tuaj yeem tsim kom muaj "karyotype" (genetic map) ntawm tus me nyuam kom kuaj tau qhov chromosomal abnormality. Cov txheej txheem no, tseem sim, yav tom ntej tuaj yeem hloov amniocentesis vim nws tsis muaj kev pheej hmoo rau tus menyuam hauv plab.

Cordocentesis. Qhov no suav nrog kev noj ntshav los ntawm txoj hlab ntaws ntawm txoj hlab ntsha. Ua tsaug rau cordocentesis, ntau cov kab mob tau kuaj pom, tshwj xeeb ntawm daim tawv nqaij, hemoglobin, rubella lossis toxoplasmosis. Cov qauv no tshwm sim los ntawm lub lim tiam 21st ntawm cev xeeb tub. Txawm li cas los xij, muaj qhov pheej hmoo tseem ceeb ntawm kev poob cev xeeb tub thiab cov kws kho mob feem ntau yuav ua amniocentesis.

Sau ntawv cia Ncua