Thaum koj cev xeeb tub, tus kws kho mob hais kom koj ua ntau yam kev kuaj mob, puas yog? Qee zaum thaum koj hnov cov npe ntawm cov kev kuaj mob no, koj xav ntshai thiab xav paub me ntsis. Rau ntau tus neeg, kev kuaj mob uas tsis tshua paub, tab sis tseem ceeb heev, hu ua kev kuaj karyotype. Ib txhia neeg kuj hu nws ua kev kuaj caj ces, kev kuaj chromosome, lossis kev tshuaj xyuas cytogenetic. Tsis txhob txhawj, cov npe no hais txog tib qho kev kuaj mob. Hnub no, peb yuav tham txog qhov no yooj yim heev, hauv txoj kev uas koj tuaj yeem nkag siab.
Qhov kev xeem Karyotype no yog dab tsi tiag?
Hais yooj yim xwb, kev kuaj karyotype saib ze ze rau cov chromosomes hauv peb lub cev cov hlwb. Xav txog cov chromosomes no ua daim phiaj qhia txog seb peb lub cev yuav tsim li cas. Daim phiaj no nrhiav seb puas muaj kev hloov pauv lossis qhov tsis zoo hauv daim phiaj no.
Thaum koj cev xeeb tub, koj tus kws kho mob yuav xaj kom kuaj xyuas qee yam mob caj ces thiab chromosomal thaum lub sijhawm peb lub hlis thawj zaug thiab peb lub hlis thib ob. Feem ntau, cov txiaj ntsig ntawm cov kev kuaj no yog nyob rau hauv qhov ntau thiab tsawg ib txwm muaj. Tsis tas yuav kuaj ntxiv lawm.
Txawm li cas los xij, yog tias cov kev kuaj thawj zaug qhia tau tias tej zaum yuav muaj teeb meem, koj tus kws kho mob yuav hais kom koj ua lwm yam kev kuaj, xws li kev kuaj Karyotype. Qhov no tuaj yeem lees paub tseeb tias tus menyuam uas loj hlob hauv plab puas muaj teeb meem caj ces lossis chromosomal.
Kev kuaj karyotype nrhiav dab tsi?
Feem ntau, ib tug neeg noj qab nyob zoo muaj 46 lub chromosomes. Ib tug me nyuam tau txais 23 ntawm cov no los ntawm niam thiab lwm 23 los ntawm txiv.
Qee zaum, tus menyuam mos muaj ib qho chromosome ntxiv, ib qho chromosome ploj lawm, lossis tej zaum yuav muaj kev hloov pauv tsis zoo hauv ib qho ntawm cov chromosomes. Kev kuaj karyotype tuaj yeem qhia tau meej tias qhov no puas yog qhov tseeb. Cov no yog qee yam mob uas cov kws kho mob feem ntau nrhiav nrog kev kuaj no.
| Mob | Piav qhia yooj yim xwb |
|---|---|
| Mob Down (Down syndrome - Trisomy 21) | Tus me nyuam muaj peb (ib qho chromosomes ntxiv) es tsis yog ob ntawm chromosome 21. Qhov no cuam tshuam rau tus me nyuam qhov tsos thiab lub peev xwm kawm. |
| Edwards syndrome (Edwards syndrome - Trisomy 18) | Tus me nyuam muaj ib qho chromosome 18 ntxiv. Cov me nyuam no feem ntau muaj ntau yam teeb meem kev noj qab haus huv, thiab ntau tus tsis muaj sia nyob ntau tshaj ib xyoos. |
| Patau syndrome (Trisomy 13) | Tus me nyuam muaj ib qho chromosome 13 ntxiv. Cov me nyuam no feem ntau muaj kab mob plawv thiab kev puas hlwb loj heev. Muaj ntau tus neeg nyob tsis dhau ib xyoos. |
| Klinefelter syndrome | Ib tug menyuam tub muaj ib lub X chromosome ntxiv (ua XXY). Lawv lub hnub nyoog yuav laus zuj zus qeeb, thiab cov menyuam yuav poob peev xwm muaj menyuam. |
| Turner syndrome | Ib tug ntxhais me nyuam yuav muaj ib qho ntawm lawv cov X chromosomes ploj lawm lossis puas lawm. Qhov no tuaj yeem ua rau muaj kab mob plawv, teeb meem caj dab, thiab luv. |
Kev kuaj Karyotype tsis yog tsuas yog siv los nrhiav cov teeb meem caj ces hauv tus menyuam thaum cev xeeb tub xwb. Nws kuj muaj lwm yam txiaj ntsig thiab.
- Yog tias koj muaj teeb meem xeeb tub , lossis tau poob ntau zaus, koj tus kws kho mob yuav ua qhov kev kuaj no los xyuas seb puas muaj teeb meem nrog koj lossis koj tus khub cov chromosomes.
- Nrhiav seb koj puas tuaj yeem xa cov mob caj ces mus rau koj tus menyuam.
- Yog tias muaj menyuam tuag hauv plab, xyuas kom meej seb qhov ua rau yog teeb meem caj ces .
- Nrhiav seb qhov ua rau muaj teeb meem ntawm lub cev lossis kev loj hlob uas koj tus menyuam mos lossis tus menyuam yaus muaj.
- Yog tias tsis tshua muaj qhov twg uas tus menyuam mos tsis paub meej tias yog poj niam txiv neej, ces ua kom paub tseeb.
- Qee hom mob qog noj ntshavMob qog noj ntshav tuaj yeem ua rau muaj kev hloov pauv hauv cov chromosomes. Kev kuaj karyotype tuaj yeem pab txiav txim siab txoj kev kho mob zoo.
Cov kev ntsuam xyuas Karyotype no yog dab tsi thiab lawv ua thaum twg?
Cov kev kuaj no tsuas yog ua tau rau qee lub lim tiam ntawm kev cev xeeb tub xwb. Koj tus kws kho mob yuav txiav txim siab seb qhov kev kuaj twg zoo tshaj plaws rau koj, nyob ntawm seb koj cev xeeb tub ntev npaum li cas thiab koj cov yam ntxwv uas ua rau muaj kev pheej hmoo.
Tus me nyuam muaj feem yuav muaj teeb meem chromosomal ntau dua me ntsis hauv cov xwm txheej hauv qab no:
- Yog tias koj muaj hnub nyoog tshaj 35 xyoo.
- Yog tias koj twb muaj ib tug menyuam uas muaj teeb meem chromosomal disorder lawm, lossis yog tias ib tug neeg hauv koj tsev neeg muaj tus mob no.
- Yog tias koj lossis koj tus khub muaj qhov tsis zoo ntawm lawv cov chromosomes.
- Yog tias koj tau muaj kev rho menyuam lossis kev yug menyuam tuag yav dhau los.
Muaj ob hom kev ntsuam xyuas tseem ceeb uas tau ua:
1. Kev Kuaj Mob Chorionic Villus (CVS)
Hauv qhov no, tus kws kho mob siv ib rab koob ntev los rho tawm ib qho qauv me me ntawm cov ntaub so ntswg los ntawm lub placenta , uas muab kev noj haus rau tus menyuam. Cov hlwb no raug xa mus rau chav kuaj mob kom kuaj. Qhov no tuaj yeem pab txiav txim siab seb tus menyuam puas muaj teeb meem caj ces xws li Down syndrome, trisomy 13, lossis trisomy 18.
- Thaum twg yuav tsum ua li no: Nruab nrab ntawm 10 thiab 13 lub lis piam ntawm cev xeeb tub.
- Kev Pheej Hmoo: Muaj kev pheej hmoo me me ntawm kev poob qis los ntawm qhov kev kuaj no (kwv yees li 1 ntawm 100 tus poj niam uas tau kuaj). Kuj tseem muaj qee qhov kev pheej hmoo rau tus menyuam, yog li cov kws kho mob tsuas yog pom zoo kom ua yog tias muaj kev pheej hmoo siab ntawm tus menyuam muaj teeb meem.
2. Kev kuaj amniocentesis
Hauv qhov kev kuaj no, tus kws kho mob yuav muab ib rab koob ntev ntxig rau hauv koj lub plab thiab muab me ntsis cov kua dej amniotic uas nyob ib puag ncig tus menyuam hauv plab. Cov qe ntshav ntawm tus menyuam hauv cov kua no raug xa mus kuaj. Ib yam li txhua yam teeb meem caj ces uas qhov kev kuaj CVS nrhiav, nws kuj tseem tuaj yeem kuaj pom cov mob hnyav uas cuam tshuam rau lub hlwb lossis tus txha caj qaum ntawm tus menyuam (cov teeb meem ntawm cov hlab ntsha hauv lub paj hlwb).
- Thaum twg yuav tsum ua li no: Nruab nrab ntawm 15 thiab 20 lub lis piam ntawm cev xeeb tub.
- Kev Pheej Hmoo: Tseem muaj kev pheej hmoo me me ntawm kev poob cev xeeb tub, tab sis nws qis dua li ntawm CVS (kwv yees li 1 ntawm 200 tus poj niam uas tau kuaj).
Puas muaj kev pheej hmoo hauv cov kev xeem no?
Yog, raws li peb tau tham ua ntej lawm, muaj qee qhov kev pheej hmoo cuam tshuam nrog cov txheej txheem siv los tau txais cov hlwb no. CVS lossis Amniocentesis tsis tshua muaj peev xwm ua rau poob cev xeeb tub . Kuj tseem muaj feem me me ntawm kev los ntshav hnyav lossis kev kis kab mob. Koj tus kws kho mob yuav tham txog txhua yam no nrog koj kom meej. Yog li ua ntej koj ntshai, nug koj tus kws kho mob txhua lo lus nug uas koj muaj.
Tom qab cov txiaj ntsig ntawm kev xeem los txog, yuav muaj dab tsi tshwm sim?
Qhov no yog qhov tseem ceeb tshaj plaws. Cov txiaj ntsig ntawm kev kuaj karyotype yog qhov tshwj xeeb heev. Yog li ntawd, thaum tau txais cov txiaj ntsig, koj tuaj yeem paub tseeb tias tus menyuam 'muaj' teeb meem caj ces lossis 'tsis muaj'.
Qhov no tsis zoo li cov kev kuaj mob yav dhau los. Lawv tsuas hais tias seb qhov kev pheej hmoo puas yog 'siab' lossis 'qis'. Tab sis qhov tshwm sim ntawm kev kuaj Karyotype tsis yog kev kwv yees, tab sis yog kev lees paub.
Thaum koj tau txais cov txiaj ntsig, koj tus kws kho mob yuav tham nrog koj kom meej thiab piav qhia seb koj yuav tsum ua dab tsi tom ntej.
Cov Lus Qhia Txog Kev Coj Mus Tsev
- Kev kuaj karyotype yog ib qho kev kuaj tshwj xeeb txog caj ces uas kuaj xyuas seb puas muaj qhov tsis zoo ntawm cov chromosomes hauv peb cov hlwb.
- Yog tias kev kuaj thawj zaug thaum cev xeeb tub qhia txog kev pheej hmoo, kev kuaj no yuav ua kom paub tseeb tias puas muaj cov mob xws li Down syndrome.
- Cov txheej txheem xws li CVS thiab Amniocentesis, uas sau cov hlwb rau lub hom phiaj no, muaj kev pheej hmoo me me ntawm kev poob qis, yog li lawv tsuas yog ua rau cov xwm txheej hnyav heev.
- Qhov tshwm sim ntawm kev kuaj karyotype tsis yog kev kwv yees zoo li "muaj kev pheej hmoo siab/tsawg", tab sis yog cov lus teb tseeb uas hais tias "muaj teeb meem/tsis muaj teeb meem".
- Xav nug koj tus kws kho mob kom meej txog txhua yam uas koj xav txog qhov kev kuaj no, nws cov kev pheej hmoo, thiab cov txiaj ntsig.
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Tsis muaj lus teb tau muab tso tawm. Ntxiv koj cov lus tawm ntawm no thawj zaug.
Ntxiv koj cov lus