txheem
Dab tsi yog trisomy 18, lossis Edwards syndrome?
Thaum lub sij hawm fertilization, ovum thiab phev sib koom ua ke los ua ib tug thiab tib lub cell, lub qe-cell. Qhov no ib txwm muaj txiaj ntsig nrog 23 chromosomes (kev txhawb nqa ntawm cov noob caj noob ces) los ntawm leej niam, thiab 23 chromosomes los ntawm leej txiv. Tom qab ntawd peb tau txais 23 khub ntawm chromosomes, lossis 46 tag nrho. Txawm li cas los xij, nws tshwm sim tias qhov tsis txaus ntseeg hauv kev faib cov noob caj noob ces tshwm sim, thiab qhov trinomial ntawm chromosomes yog tsim los ntawm ib khub. Tom qab ntawd peb tham txog trisomy.
Edwards syndrome (lub npe hu ua tom qab tus kws tshuaj caj ces uas nrhiav pom nws hauv xyoo 1960) cuam tshuam rau khub 18. Ib tug neeg uas muaj trisomy 18 yog li muaj peb chromosomes 18 es tsis txhob muaj ob.
Qhov xwm txheej ntawm trisomy 18 kev txhawj xeeb ntawm ib tug ntawm 6 yug thiab ib tug ntawm 000 yug, tawm tsam 1 ntawm 400 qhov nruab nrab rau trisomy 21. Tsis zoo li Down syndrome (trisomy 21), trisomy 18 ua rau tuag hauv utero hauv 95% ntawm cov neeg mob, tsawg kawg raws li lub portal rau cov kab mob tsawg Ntsuag.
Cov tsos mob thiab cov tsos mob ntawm trisomy 18
Trisomy 18 yog ib qho mob hnyav trisomy, vim yog cov tsos mob nws ua. Cov me nyuam yug tshiab nrog trisomy 18 tam sim no nrog cov leeg nqaij tsis zoo (hypotonia, uas tom qab ntawd nce mus rau hypertonia), hyporesponsiveness, nyuaj nqus, ntev ntiv tes sib tshooj, lub qhov ntswg upturned, lub qhov ncauj me me. Intrauterine thiab postnatal kev loj hlob retardation feem ntau pom, nrog rau microcephaly (tsawg lub taub hau ncig), kev txawj ntse thiab teeb meem ntawm lub cev muaj zog. Cov malformations yog ntau thiab nquag: Ob lub qhov muag, lub plawv, digestive system, puab tsaig, ob lub raum thiab urinary ib ntsuj av tau… Ntawm lwm yam kev txhawj xeeb txog kev noj qab haus huv, peb muaj peev xwm hais txog ib tug cleft di ncauj, qws taw nyob rau hauv cov dej khov, pob ntseg qis, phem hemmed thiab angular ("faunas"), spina bifida (neural tube kaw abnormality) los yog nqaim pelvis.
Vim mob plawv, paj hlwb, digestive lossis lub raum malformations, Cov menyuam yug tshiab nrog trisomy 18 feem ntau tuag hauv lawv thawj xyoo ntawm lub neej. Nyob rau hauv cov ntaub ntawv ntawm "mosaic" los yog "translocation" trisomy 18 (saib hauv qab), lub neej expectancy yog ntev dua, tab sis tsis tshaj neeg laus.
Vim hais tias ntawm tag nrho cov teeb meem kev noj qab haus huv txuas nrog chromosomal abnormality, qhov kev tshwm sim rau trisomy 18 yog qhov tsis zoo: feem coob ntawm cov me nyuam mos (90%) tuag ua ntej mus txog ib xyoos, vim muaj teeb meem.
Nco ntsoov tiasKev muaj sia nyob ntev yog qee zaum ua tau, tshwj xeeb tshaj yog thaum trisomy yog ib feem, piv txwv li thaum cov hlwb nrog 47 chromosomes (xws li 3 chromosomes 18) coexist nrog cov hlwb nrog 46 chromosomes, suav nrog 2 chromosomes 18 (mosaic trisomy), lossis thaum chromosome 18 ntxiv nrog rau lwm khub dua li khub 18 (translocation trisomy). Tab sis cov neeg mus txog rau cov neeg laus yog cov neeg xiam oob khab hnyav, thiab tsis tuaj yeem hais lus lossis taug kev.
Yuav kuaj xyuas trisomy 18 li cas?
Trisomy 18 feem ntau xav tias ntawm ultrasound, nyob rau nruab nrab nyob ib ncig ntawm lub 17th lub lim tiam ntawm amenorrhea (los yog 15th lub lim tiam ntawm cev xeeb tub), vim fetal malformations (nyob rau hauv lub plawv thiab lub hlwb nyob rau hauv particular), nuchal translucency tuab heev, kev loj hlob retardation ... Nco ntsoov tias cov ntshav. Cov cim siv rau kev tshuaj ntsuam xyuas trisomy 21 qee zaum txawv txav, tab sis qhov no tsis yog ib txwm muaj. Ultrasound yog li ntawd zoo dua rau kev kuaj mob ntawm trisomy 18. Ib tug fetal karyotype (kev npaj ntawm tag nrho cov chromosomes) ces ua rau nws muaj peev xwm kom paub meej tias los yog tsis Edwards syndrome.
Trisomy 18: Kev kho mob dab tsi? Kev txhawb nqa dab tsi?
Hmoov tsis, tsis muaj kev kho mob rau hnub no los kho trisomy 18. Raws li qhov chaw Ntsuag, kev phais kev kho mob ntawm malformations tsis tau hloov kho qhov kev tshwm sim. Tsis tas li ntawd, qee qhov malformations yog qhov uas lawv tsis tuaj yeem ua haujlwm.
Kev tswj hwm ntawm trisomy 18 yog li ntawd suav nrog tag nrho cov kev txhawb nqa thiab kev nplij siab. Lub hom phiaj yog txhawm rau txhim kho lub neej ntawm cov menyuam yaus cuam tshuam ntau li ntau tau, piv txwv li los ntawm physiotherapy. Kev tso pa tawm dag zog thiab lub plab zom mov tuaj yeem muab tso rau hauv qhov chaw kom muaj kev noj qab haus huv zoo dua thiab oxygenation. Kev tswj hwm yog ua los ntawm pab pawg kws kho mob ntau yam.