Koj tus menyuam puas raug tus mob no? Cia peb tham txog Edwards Syndrome lossis Trisomy 18.

Rau cov neeg uas xav tias yuav los ua niam, lossis xav kom muaj ib tug tswv cuab tshiab los koom nrog koj tsev neeg, qhov no yuav zoo li rhiab me ntsis. Txawm li cas los xij, muaj qee yam uas peb qee zaum tsis nyiam hnov, tab sis tseem ceeb heev uas yuav tsum paub. Hnub no peb yuav tham txog ib qho mob zoo li no. Ntawd yog Edwards Syndrome, tseem hu ua Trisomy 18, ib qho mob caj ces loj heev.

Edwards Syndrome yog dab tsi?

Hais yooj yim xwb, Edwards Syndrome yog ib yam mob caj ces uas cuam tshuam loj heev rau kev loj hlob ntawm tus menyuam . Cov menyuam mos uas yug los nrog tus mob no feem ntau yug los nrog qhov hnyav qis. Lawv kuj muaj ntau yam teeb meem sib txawv thiab cov yam ntxwv tshwj xeeb ntawm lub cev. Nws yog ib qho ib txwm muaj kev tu siab thiab ntshai thaum koj hnov ​​​​​​qhov no. Tab sis cia peb tham txog qhov no ntxiv, puas yog?

Leej twg thiaj muaj tau tus mob Edwards Syndrome (Trisomy 18)?

Qhov tseeb, Edwards Syndrome (Trisomy 18) tuaj yeem tshwm sim rau txhua tus menyuam . Nws tshwm sim random, txhais tau tias nws tsis tau kwv yees ua ntej, thaum pom ib daim qauv ntxiv ntawm chromosome 18 hauv cov hlwb ntawm tus menyuam. Txawm li cas los xij, nws tau pom tias tus niam laus dua, uas yog, yog tias leej niam muaj hnub nyoog tshaj 35 xyoo thaum cev xeeb tub, qhov muaj feem yuav mob no ntau dua . Tab sis nco ntsoov, yog tias ib tug menyuam muaj tus mob no, qhov muaj feem yuav mob tom ntej yog tsawg heev (tsawg dua 1%).

Edwards Syndrome (Trisomy 18) muaj ntau npaum li cas?

Tus mob no, Edwards Syndrome (Trisomy 18), tshwm sim rau kwv yees li ib ntawm txhua 5,000 txog 6,000 tus menyuam yug los. Txawm li cas los xij, thaum cev xeeb tub, tus mob no feem ntau tshwm sim ntau dua, tshwm sim rau kwv yees li ib ntawm txhua 2,500 tus menyuam cev xeeb tub. Tu siab heev, cov teeb meem cuam tshuam nrog kev kuaj mob no feem ntau ua rau tus menyuam hauv plab poob hauv plab (miscarriage) lossis yug tuag .

Thaum twg thiaj nrhiav tau tus mob Edwards Syndrome (Trisomy 18)?

Tus mob no, hu ua Edwards syndrome (Trisomy 18), tau pom thawj zaug hauv xyoo 1960 los ntawm John Hilton Edwards thiab nws pab neeg. Lawv tau pom nws thaum kawm txog tus menyuam mos uas muaj ntau yam kev tsis zoo thiab teeb meem kev loj hlob ntawm lub hlwb. Lawv hais tias tus mob no yog tshwm sim los ntawm kev ntxiv daim qauv thib peb ntawm chromosome 18 (yog vim li cas nws thiaj hu ua trisomy 18).

Cov tsos mob ntawm Edwards Syndrome (Trisomy 18) yog dab tsi?

Cov tsos mob ntawm tus menyuam mos uas muaj Edwards syndrome (Trisomy 18) feem ntau pom ua ntej thiab tom qab yug los . Cov tsos mob tseem ceeb suav nrog kev loj hlob qis heev, ntau qhov tsis zoo thaum yug los, thiab kev loj hlob qeeb heev lossis kev kawm tsis tau zoo .

Cov tsos mob pom thaum cev xeeb tub

Koj tus kws kho mob yuav nrhiav cov yam ntxwv no thaum lub sijhawm ultrasound scans thaum cev xeeb tub:

• Muaj tsawg heev kev txav ntawm lub fetus.
• Koj txoj hlab ntaws tsuas muaj ib txoj hlab ntsha xwb (feem ntau muaj ob txoj).
• Lub placenta me heev.
• Qhov muaj ntau yam kev tsis zoo ntawm menyuam yug los.
• Cov kua dej amniotic ntau dhau nyob ib puag ncig tus menyuam hauv plab hu ua "polyhydramnios".

Txawm hais tias qee tus menyuam mos uas muaj Edwards Syndrome yug los muaj sia nyob, feem ntau lawv yuav poob lossis tuag hauv thawj peb lub hlis ntawm kev cev xeeb tub .

Cov tsos mob pom tom qab yug me nyuam

Tom qab tus menyuam yug los, tus menyuam uas muaj Edwards syndrome (Trisomy 18) yuav muaj cov yam ntxwv ntawm lub cev hauv qab no:

• Cov leeg nqaij tsis muaj zog (hypotonia) - tus menyuam mos mos heev.
• Cov pob ntseg teeb tsa qis dua li qub.
• Cov kab mob sab hauv (xws li lub plawv thiab lub ntsws) tej zaum yuav tsis tsim tau zoo lossis lawv txoj haujlwm yuav hloov pauv.
• Teeb meem kev loj hlob ntawm lub hlwb (feem ntau hnyav heev ).
• Cov ntiv taw uas muab tso ua ke rau saum ib leeg thiab/lossis cov taw uas sib txuas ua ke ("(clubfeet)")
• Lub cev, lub taub hau, qhov ncauj, thiab lub puab tsaig me heev.
• Quaj tsawg heev thiab teb tsis tshua rau suab .

Cov tsos mob hnyav ntawm Edwards syndrome (Trisomy 18)

Vim tias lub cev ntawm tus menyuam uas muaj Edwards Syndrome (Trisomy 18) tsis tau loj hlob tag nrho, cov kev mob tshwm sim ntawm tus mob no yog qhov hnyav heev, feem ntau ua rau tuag taus . Ib txhia ntawm lawv suav nrog:

• Kab mob plawv thiab kab mob raum.
• Kev ua pa tsis zoo (ua pa tsis tau).
• Teeb meem thiab kev tsis zoo ntawm lub cev zom zaub mov (`(Gastrointestinal tract)`) thiab phab ntsa plab.
• Kab mob Hernias (`(Hernias)`).
• Kab mob Scoliosis.

Xav txog qhov no: Kwv yees li 90% ntawm cov menyuam mos uas muaj Edwards Syndrome (Trisomy 18) muaj kab mob plawv. Qhov no yog qhov ua rau cov menyuam mos tuag ntxov ntxov, tom qab ua pa tsis ua haujlwm.

Dab tsi ua rau muaj Edwards Syndrome (Trisomy 18)?

Hais yooj yim xwb, Edwards syndrome (Trisomy 18) yog tshwm sim los ntawm qhov muaj peb daim qauv ntawm chromosome 18 es tsis yog ob daim ib txwm muaj .

Tam sim no, saib seb, peb txhua tus muaj 46 lub chromosomes hauv peb lub cev, muab faib ua 23 khub. Cov chromosomes no muaj peb cov DNA (cov lus qhia uas peb lub cev xav tau kom loj hlob thiab ua haujlwm). Peb tau txais ib pawg ntawm cov chromosomes no los ntawm peb niam thiab lwm qhov los ntawm peb txiv.

Thaum cov cell raug tsim, lawv pib ua cov cell uas tau cog rau hauv cov noob caj noob ces (cov phev hauv cov txiv neej, cov qe hauv cov poj niam). Cov cell no faib (hauv cov txheej txheem hu ua "meiosis") thiab theej lawv tus kheej los ua khub. Lub cell uas tshwm sim muaj ib nrab ntawm cov DNA li lub cell thawj, uas yog, 23 ntawm 46 chromosomes. Txhua khub chromosomes muaj tus lej.

Thaum cov khub chromosome no yuav tsum sib cais thaum lub sijhawm tsim qe thiab phev, qee zaum ib qho ntawm cov khub chromosome tsis sib cais zoo (zoo li ib yam dab tsi nplaum), thiab ob qho tib si theej xaus rau hauv tib lub qe lossis phev. Tom qab ntawd, thaum fertilization, lawv koom nrog ib daim theej los ntawm lwm tus niam txiv, ua tag nrho peb daim theej . Hom chromosome tsis sib xws no yog random, tsis paub tseeb, thiab tsis yog los ntawm txhua yam uas niam txiv tau ua ua ntej lossis thaum cev xeeb tub .

Thaum ntxiv ib daim qauv thib peb ntawm ib khub chromosome, nws hu ua trisomy. Trisomy txhais tau tias zoo li "peb lub cev." Ib tug neeg uas muaj Edwards Syndrome muaj ib daim qauv thib peb ntawm chromosome 18 hauv lawv cov hlwb.

Yuav kuaj mob Edwards Syndrome (Trisomy 18) li cas?

Kev kuaj mob Edwards Syndrome (Trisomy 18) feem ntau pib thaum cev xeeb tub . Kev kuaj mob tau lees paub ua ntej lossis tom qab tus menyuam yug los. Koj tus kws kho mob feem ntau yuav ua qhov kev ntsuas ultrasound los nrhiav cov cim ntawm Edwards Syndrome (Trisomy 18) los ntawm kev saib tus menyuam txoj kev txav mus los, qhov ntau ntawm cov kua amniotic, thiab qhov loj ntawm lub placenta. Yog tias pom cov cim ntawm tus mob caj ces no, koj tus kws kho mob yuav pom zoo kom kuaj ntxiv kom paub meej tias tau kuaj mob.

Cov kev kuaj twg siv los kuaj mob Edwards Syndrome (Trisomy 18)?

Thaum cev xeeb tub, yog tias tus menyuam muaj cov tsos mob ntawm Edwards Syndrome (Trisomy 18), tus kws kho mob yuav qhia ntau yam kev kuaj mob kom paub meej tias muaj tus kab mob, xws li:

• Kev Ntsuas Amniocentesis : Nruab nrab ntawm 15 thiab 20 lub lis piam ntawm cev xeeb tub, koj tus kws kho mob yuav coj me me ntawm cov kua amniotic thiab kuaj nws kom paub meej tias koj tus menyuam noj qab haus huv li cas.
• Kev kuaj mob Chorionic villus (CVS) : Nruab nrab ntawm 10 thiab 13 lub lis piam ntawm cev xeeb tub, koj tus kws kho mob yuav ib qho qauv me me ntawm cov qe ntshav los ntawm lub placenta thiab kuaj lawv kom nrhiav tau cov kab mob caj ces.
• Kev Kuaj Mob : Tom qab 10 lub lis piam ntawm cev xeeb tub, koj cov ntshav yuav raug kuaj xyuas seb koj tus menyuam puas muaj cov mob chromosome ntxiv, xws li trisomy 18.

Tom qab tus me nyuam yug los, tus kws kho mob yuav kuaj lub plawv ntawm tus me nyuam nrog kev siv lub tshuab ultrasound, txheeb xyuas txhua yam teeb meem plawv uas tej zaum yuav yog los ntawm qhov kev kuaj mob no, thiab ua cov kauj ruam los kho lawv.

Yuav kho tus mob Edwards Syndrome (Trisomy 18) li cas?

Feem ntau, qhov mob no hnyav heev uas cov menyuam mos uas yug los muaj sia nyob tau txais kev saib xyuas kom xis nyob.. Qhov ntawd txhais tau tias pab tus menyuam kom xis nyob thiab tsis mob. Txawm li cas los xij, kev kho mob rau Edwards Syndrome (Trisomy 18) txawv rau txhua tus menyuam, nyob ntawm qhov hnyav ntawm kev kuaj mob . Tsis muaj kev kho rau Edwards Syndrome (Trisomy 18) .

Kev kho mob rau Edwards syndrome (Trisomy 18) yuav suav nrog:

• Kev Kho Mob Rau Kab Mob Plawv : Yuav luag txhua tus menyuam mos uas muaj Edwards syndrome (Trisomy 18) raug kev txom nyem los ntawm kab mob plawv. Txawm hais tias tsis yog txhua tus menyuam mos tuaj yeem phais tau, qee tus tuaj yeem ua tau.
• Kev Pab Txhawb Kev Pub Mis : Cov menyuam mos uas muaj tus kab mob Edwards (Trisomy 18) yuav muaj teeb meem noj mov li qub vim yog kev loj hlob qeeb. Lawv yuav tsum tau pub mis los ntawm lub raj mis pub mis kom pab daws teeb meem kev pub mis thaum ntxov hauv lub neej.
• Kev Kho Mob Pob Qij Txha : Cov menyuam mos uas muaj tus kab mob Edwards (Trisomy 18) yuav muaj teeb meem nraub qaum, xws li scoliosis. Cov no tuaj yeem cuam tshuam rau kev txav mus los ntawm tus menyuam. Kev kho mob pob qij txha yuav suav nrog kev siv lub zog lossis phais.
• Kev txhawb nqa kev puas siab puas ntsws thiab kev sib raug zoo : Muaj ib tug menyuam uas muaj Edwards Syndrome (Trisomy 18) xav tau kev txhawb nqa rau koj, koj tsev neeg, thiab koj tus menyuam. Koj yuav xav tau kev txhawb nqa los daws qhov kev tu siab ntawm kev poob koj tus menyuam, tshwj xeeb tshaj yog tias koj poob koj tus menyuam, lossis los daws qhov kev kuaj mob nyuaj ntawm koj tus menyuam.

Kuv yuav ua li cas thiaj txo tau qhov kev pheej hmoo ntawm kuv tus menyuam muaj Edwards Syndrome (Trisomy 18)?

Vim tias Edwards syndrome (Trisomy 18) yog qhov tshwm sim ntawm kev hloov pauv caj ces, tsis muaj txoj hauv kev los tiv thaiv tus mob no . Txawm li cas los xij, yog tias koj tsim nyog rau kev kuaj caj ces thiab kev kuaj menyuam hauv plab (kev kuaj caj ces ua ntej cog) nrog kev ua kom cev xeeb tub hauv vitro (IVF), koj tuaj yeem txo qhov muaj feem yuav muaj menyuam nrog Edwards syndrome (Trisomy 18). Yog tias koj tab tom npaj yuav cev xeeb tub, nrog koj tus kws kho mob tham txog kev sab laj caj ces kom paub txog qhov kev pheej hmoo ntawm kev muaj menyuam nrog tus mob caj ces.

Yog koj muaj ib tug menyuam uas muaj Edwards Syndrome (Trisomy 18) yuav ua li cas?

Tsis muaj kev kho rau Edwards Syndrome (Trisomy 18). Feem ntau cov cev xeeb tub xaus rau hauv kev poob lossis tuag hauv plab . Ntawm cov cev xeeb tub uas muaj sia nyob txog rau peb lub hlis twg, kwv yees li 40% ntawm cov menyuam mos uas muaj Edwards Syndrome (Trisomy 18) tsis muaj sia nyob thaum yug los, thiab kwv yees li ib feem peb ntawm cov neeg uas muaj sia nyob yug ua ntej lub sijhawm.

Tus nqi ciaj sia rau cov menyuam mos uas yug los nrog Edwards Syndrome (Trisomy 18) yog raws li nram no:

• Nruab nrab ntawm 60% thiab 75% muaj sia nyob rau thawj lub lim tiam.
• Nruab nrab ntawm 20% thiab 40% muaj sia nyob rau thawj lub hlis.
• Ntau tshaj 10% tsis ua kev zoo siab rau lawv hnub yug thawj zaug.

Cov menyuam mos uas yug los muaj Edwards Syndrome (Trisomy 18) xav tau kev saib xyuas tshwj xeeb tam sim ntawd tom qab yug los, uas tsim los rau lawv cov tsos mob tshwj xeeb.. Lub caij nyoog ntawm kev ciaj sia yog tsawg heev, tshwj xeeb tshaj yog tias tus menyuam muaj kev loj hlob qeeb lossis muaj teeb meem plawv txij thaum yug los. Ntawm 10% uas muaj sia nyob rau lawv hnub yug thawj zaug, qee tus menyuam yaus nyob lub neej zoo siab nrog kev txhawb nqa zoo los ntawm lawv tsev neeg thiab cov neeg saib xyuas. Tab sis lawv feem ntau yeej tsis kawm taug kev lossis tham.

Kuv yuav tsum mus ntsib kws kho mob thaum twg?

Thaum ib tug me nyuam uas muaj tus kab mob Edwards (Trisomy 18) nyob hauv plab, muaj kev pheej hmoo ntawm kev poob cev xeeb tub lossis kev poob cev xeeb tub. Yog tias koj cev xeeb tub, mus ntsib kws kho mob tam sim ntawd yog tias koj muaj cov tsos mob ntawm kev poob cev xeeb tub :

• Mob plab.
• Yog koj xav tias txias thiab kub taub hau.
• Mob nraub qaum.
• Yog koj los ntshav ntau dua li qub (los ntshav ntau).
• Mob plab qis.

Kuv yuav tsum mus rau chav kho mob ceev thaum twg?

Yog koj tus menyuam yug los muaj Edwards Syndrome (Trisomy 18) muaj cov tsos mob no, coj nws mus rau chav kho mob ceev tam sim ntawd, lossis hu rau 1990 :

• Yog koj ua pa sai dhau los yog qeeb dhau, los yog tsis ua pa li.
• Yog tias daim tawv nqaij lossis daim di ncauj tig xiav lossis ntshav.
• Yog tias lub plawv dhia ceev heev.
• Yog tias nyuaj rau noj.
• Yog tias tag nrho lub cev o.

Kuv yuav tsum nug kuv tus kws kho mob li cas?

Hauv qhov xwm txheej no, tej zaum koj yuav muaj ntau cov lus nug. Nug koj tus kws kho mob txog tej yam xws li:

• "Kuv muaj tej yam kev pheej hmoo dab tsi yog tias kuv muaj ib tug menyuam uas muaj mob caj ces?"
• Yuav muaj kev kho mob dab tsi rau cov tsos mob ntawm kuv tus menyuam?
• Kuv ua tau dab tsi kom kuv tus menyuam noj qab nyob zoo thaum cev xeeb tub?

Kev kuaj mob Edwards Syndrome (Trisomy 18) tuaj yeem yog ib qho nyuaj heev. Cov teeb meem uas los nrog tus mob no tuaj yeem ua rau koj ntxhov siab heev. Koj tus kws kho mob yuav pab koj thiab koj tsev neeg hla txoj kev no , txawm tias nws yog kev daws teeb meem ntawm koj tus menyuam txoj kev kuaj mob lossis kev daws teeb meem ntawm kev poob koj tus menyuam. Yog tias koj tab tom npaj yuav cev xeeb tub, tham nrog koj tus kws kho mob txog kev sab laj txog caj ces kom paub txog koj qhov kev pheej hmoo ntawm kev muaj menyuam nrog tus mob caj ces.

Tej yam tseem ceeb tshaj plaws uas yuav tsum nco ntsoov (Cov Lus Coj Mus Tsev)

Zoo, yog li, cia kuv sau qee yam uas peb tau tham txog uas kuv xav tias yuav tseem ceeb rau koj:

• Edwards Syndrome, los yog Trisomy 18, yog ib qho mob caj ces loj heev .
• Qhov no yog tshwm sim los ntawm ib daim qauv ntxiv ntawm chromosome 18. Qhov no yog ib qho kev sib xws, tsis yog niam txiv qhov txhaum.
• Qhov no tuaj yeem kuaj pom los ntawm kev luam theej duab thiab lwm yam kev kuaj tshwj xeeb (`(Amniocentesis)`, `(CVS)`) ua thaum cev xeeb tub.
• Tsis muaj tshuaj kho tau tus mob no, kev kho mob yog tsom rau kev tswj cov tsos mob thiab ua kom tus menyuam xis nyob.
• Muaj ntau tus menyuam mos uas tsis muaj sia nyob ntev , tab sis qee tus menyuam muaj sia nyob nrog kev hlub thiab kev txhawb nqa ntawm lawv tsev neeg.
• Yog koj cev xeeb tub thiabYog koj pom cov cim qhia tias koj cev xeeb tub, nrhiav kev pab kho mob tam sim ntawd.
• Yog tias koj tau kuaj pom tias muaj tus mob no, koj tsis yog tib tug xwb . Nrhiav kev pab los ntawm cov kws kho mob, tsev neeg, thiab cov kev pab tswv yim.

Vam tias cov ntaub ntawv no yuav pab tau koj. Nws nyuaj rau tham txog cov ncauj lus rhiab heev, tab sis nws tsim nyog paub.

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