txheem
Edwards Syndrome - tus kab mob thib ob feem ntau tom qab Down syndrome, cuam tshuam nrog chromosomal aberrations. Nrog Edwards syndrome, muaj ib qho ua tiav lossis ib nrab trisomy ntawm 18th chromosome, raws li qhov tshwm sim ntawm nws cov ntawv luam ntxiv. Qhov no provokes ib tug xov tooj ntawm irreversible mob ntawm lub cev, uas nyob rau hauv feem ntau yog incompatible nrog lub neej. Qhov zaus ntawm qhov tshwm sim ntawm cov kab mob no yog ib kis ntawm 5-7 txhiab tus menyuam yaus, thaum feem ntau ntawm cov menyuam yug tshiab nrog Edwards cov tsos mob yog cov ntxhais. Cov kws tshawb fawb qhia tias cov txiv neej cov me nyuam tuag thaum lub sij hawm perinatal los yog thaum yug me nyuam.
Tus kab mob no tau piav qhia thawj zaug los ntawm tus kws tshuaj caj ces Edwards hauv xyoo 1960, uas tau txheeb xyuas ntau dua 130 cov tsos mob uas qhia txog cov kab mob no. Edwards syndrome tsis tau txais txiaj ntsig, tab sis yog qhov tshwm sim ntawm kev hloov pauv, qhov tshwm sim yog 1%. Cov laj thawj uas ua rau muaj kev cuam tshuam ntawm cov kab mob yog cov hluav taws xob raug hluav taws xob, kev sib txuas ntawm leej txiv thiab leej niam, kev cuam tshuam rau nicotine thiab cawv thaum lub sij hawm xeeb tub thiab cev xeeb tub, kev sib cuag nrog cov tshuaj lom neeg.
Edwards Syndrome yog ib yam kab mob caj ces cuam tshuam nrog kev faib cov chromosomes txawv txav, vim tias muaj ib daim qauv ntxiv ntawm 18th chromosome. Qhov no ua rau muaj ntau yam kab mob caj ces, uas tshwm sim los ntawm cov kab mob loj hauv lub cev xws li kev puas hlwb, lub plawv tsis zoo, lub siab, lub paj hlwb hauv nruab nrab, thiab musculoskeletal defects.
Qhov tshwm sim ntawm tus kab mob no tsawg heev - 1: 7000 tus neeg mob, thaum feem ntau cov menyuam yug tshiab nrog Edwards syndrome tsis nyob dhau thawj xyoo ntawm lub neej. Ntawm cov neeg laus, feem ntau (75%) yog cov poj niam, txij li cov txiv neej fetuses nrog cov kab mob no tuag txawm tias thaum lub sij hawm cev xeeb tub, vim qhov kev xeeb tub xaus rau kev nchuav menyuam.
Qhov tseem ceeb ntawm kev pheej hmoo rau kev loj hlob ntawm Edwards syndrome yog lub hnub nyoog ntawm leej niam, txij li kev tsis sib haum xeeb ntawm chromosomes, uas yog qhov ua rau fetal pathology, feem ntau (90%) tshwm sim hauv niam txiv kab mob. Qhov seem 10% ntawm cov neeg mob ntawm Edwards syndrome yog txuam nrog translocations thiab non-disjunction ntawm zygote chromosomes thaum lub sij hawm cleavage.
Edwards syndrome, zoo li Down syndrome, muaj ntau dua rau cov menyuam yaus uas nws niam cev xeeb tub tshaj li plaub caug xyoo. (Nyeem ntxiv: Ua rau thiab cov tsos mob ntawm down syndrome)
Txhawm rau muab kev kho mob raws sijhawm rau cov menyuam yaus uas muaj kev tsis haum xeeb uas tshwm sim los ntawm chromosomal abnormalities, cov menyuam yug tshiab yuav tsum tau kuaj xyuas los ntawm kws kho plawv, kws kho mob hlwb, kws kho mob menyuam yaus thiab kws kho mob orthopedist. Tam sim ntawd tom qab yug me nyuam, tus menyuam mos yuav tsum tau kuaj xyuas, uas suav nrog ultrasound ntawm lub plab thiab lub plab, nrog rau echocardiography txhawm rau txhawm rau kuaj mob plawv.
Cov tsos mob ntawm Edwards Syndrome
Cov kab mob pathological ntawm cev xeeb tub yog ib qho ntawm cov cim tseem ceeb ntawm lub xub ntiag ntawm Edwards syndrome. Lub fetus yog inactive, tsis txaus placenta loj, polyhydramnios, tsuas yog ib tug umbilical hlab ntsha. Thaum yug los, cov menyuam mos uas muaj Edwards syndrome yog tus cwj pwm los ntawm lub cev tsis muaj zog, txawm tias lub cev xeeb tub qeeb, asphyxia tam sim tom qab yug me nyuam.
Ib tug xov tooj ntawm congenital pathologies ntawm cov me nyuam mos nrog Edwards syndrome ua rau lub fact tias feem ntau ntawm lawv tuag nyob rau hauv thawj lub lis piam ntawm lub neej vim muaj teeb meem plawv, ua tsis taus pa thiab digestion. Tam sim ntawd tom qab yug me nyuam, lawv cov khoom noj yog nqa tawm los ntawm lub raj, vim lawv tsis tuaj yeem nqus thiab nqos tau, nws yuav tsum tau ua kom lub ntsws ua pa.
Feem ntau cov tsos mob pom ntawm qhov muag liab qab, yog li tus kab mob no tau kuaj pom yuav luag tam sim ntawd. External manifestations ntawm Edwards syndrome muaj xws li: shortened sternum, clubfoot, dislocation ntawm lub duav thiab txawv txav qauv ntawm tav, hla ntiv tes, daim tawv nqaij npog nrog papillomas los yog hemangiomas. Tsis tas li ntawd, cov menyuam mos uas muaj cov kab mob no muaj lub ntsej muag tshwj xeeb - lub hauv pliaj qis, caj dab luv nrog cov tawv nqaij ntau dhau, lub qhov ncauj me me, daim di ncauj cleft, convex nape thiab microphthalmia; pob ntseg tau teeb tsa qis, pob ntseg pob ntseg yog nqaim dhau, lub auricles yog deformed.
Hauv cov menyuam yaus uas muaj tus mob Edwards, muaj teeb meem loj ntawm lub hauv nruab nrab paj hlwb - microcephaly, cerebellar hypoplasia, hydrocephalus, meningomyelocele thiab lwm yam. Tag nrho cov malformations no ua rau kev ua txhaum ntawm kev txawj ntse, oligophrenia, sib sib zog nqus idiocy.
Cov tsos mob ntawm Edwards syndrome muaj ntau yam, tus kab mob muaj tshwm sim los ntawm yuav luag tag nrho cov kab mob thiab cov kab mob - kev puas tsuaj rau lub aorta, lub plawv septa thiab li qub, plab hnyuv ob leeg, esophageal fistulas, umbilical thiab inguinal hernias. Los ntawm cov genitourinary system nyob rau hauv cov txiv neej cov me nyuam mos, undescended noob qes muaj ntau, nyob rau hauv cov ntxhais - clitoral hypertrophy thiab ib tug bicornuate uterus, raws li zoo raws li ib tug pathologies - hydronephrosis, raum tsis ua hauj lwm, zais zis diverticula.
Ua rau Edwards Syndrome
Cov kab mob chromosomal uas ua rau muaj qhov tshwm sim ntawm Edwards syndrome tshwm sim txawm tias nyob rau theem ntawm kev tsim cov kab mob - oogenesis thiab spermatogenesis, los yog tshwm sim thaum lub zygote tsim los ntawm ob lub hlwb tsis zoo crushed.
Cov kev pheej hmoo ntawm Edward's syndrome yog tib yam li rau lwm yam chromosomal abnormalities, feem ntau zoo ib yam li cov Down's syndrome.
Qhov tshwm sim ntawm qhov tshwm sim ntawm pathology nce nyob rau hauv kev cuam tshuam ntawm ntau yam, ntawm cov uas ib qho tseem ceeb yog lub hnub nyoog ntawm leej niam. Qhov tshwm sim ntawm Edwards syndrome yog siab dua nyob rau hauv cov poj niam uas yug tau tshaj 45 xyoos. Kev raug hluav taws xob ua rau chromosomal txawv txav, thiab kev siv cawv, tshuaj, tshuaj muaj zog, thiab kev haus luam yeeb kuj ua rau qhov no. Kev txwv tsis pub coj tus cwj pwm phem thiab tsis txhob raug tshuaj lom neeg ua phem rau hauv chaw ua haujlwm lossis thaj chaw nyob yog pom zoo tsis yog thaum cev xeeb tub xwb, tab sis kuj yog ob peb lub hlis ua ntej xeeb tub.
Kev kuaj mob ntawm Edwards syndrome
Kev kuaj mob raws sij hawm ua rau nws muaj peev xwm txheeb xyuas tus kab mob chromosomal nyob rau theem pib ntawm cev xeeb tub thiab txiav txim siab txog kev tawm tswv yim ntawm kev khaws cia, suav nrog txhua yam teeb meem tshwm sim thiab qhov tshwm sim tsis zoo ntawm tus menyuam hauv plab. Kev kuaj ultrasound hauv cov poj niam cev xeeb tub tsis muab cov ntaub ntawv txaus los kuaj xyuas Edwards syndrome thiab lwm yam kab mob caj ces, tab sis tuaj yeem muab cov ntaub ntawv hais txog kev xeeb tub. Deviations los ntawm tus qauv, xws li polyhydramnios los yog ib tug me me fetus, ua rau muaj kev tshawb fawb ntxiv, suav nrog ib tug poj niam nyob rau hauv ib pab pawg neeg muaj kev pheej hmoo thiab nce kev tswj ntawm lub cev xeeb tub yav tom ntej.
Kev tshuaj ntsuam xyuas ua ntej yug menyuam yog ib txoj hauv kev zoo los kuaj xyuas qhov tsis zoo thaum ntxov. Kev tshuaj ntsuam yuav tshwm sim nyob rau hauv ob theem, thawj ntawm uas yog ua nyob rau hauv lub 11th lub lim tiam ntawm cev xeeb tub thiab muaj nyob rau hauv txoj kev tshawb no ntawm biochemical ntshav tsis. Cov ntaub ntawv ntawm kev hem thawj ntawm Edwards syndrome nyob rau hauv thawj peb lub hlis twg ntawm cev xeeb tub yog tsis muaj tseeb, thiaj li yuav paub meej tias lawv cov kev cia siab, nws yog tsim nyog los mus dhau lub thib ob theem ntawm kev tshuaj ntsuam.
Cov poj niam uas muaj kev pheej hmoo rau Edwards syndrome tau raug qhia kom kuaj xyuas kom paub tseeb tias qhov kev kuaj mob, uas yuav pab txhim kho kev coj cwj pwm ntxiv.
Lwm cov cim qhia txog kev txhim kho ntawm Edwards syndrome yog qhov txawv txav ntawm fetal kuaj pom ntawm ultrasound, ntau cov kua amniotic nrog me me placenta, thiab agenesis ntawm umbilical artery. Doppler cov ntaub ntawv ntawm lub uteroplacental ncig, ultrasound thiab qauv kuaj yuav pab tau nyob rau hauv kev kuaj mob ntawm Edwards syndrome.
Ntxiv rau qhov ntsuas ntawm tus me nyuam hauv plab thiab cov kab mob pathological ntawm cev xeeb tub, lub hauv paus rau kev tso npe niam txiv yav tom ntej hauv pab pawg uas muaj kev pheej hmoo siab yog hnub nyoog tshaj 40-45 thiab rog dhau.
Txhawm rau txiav txim siab qhov xwm txheej ntawm tus menyuam hauv plab thiab cov yam ntxwv ntawm lub sijhawm cev xeeb tub ntawm thawj theem ntawm kev tshuaj ntsuam, nws yog ib qho tsim nyog yuav tsum tau txais cov ntaub ntawv ntawm cov concentration ntawm PAPP-A protein thiab beta subunits ntawm chorionic gonadotropin (hCG). HCG yog tsim los ntawm lub embryo nws tus kheej, thiab raws li nws tsim, los ntawm cov placenta nyob ib ncig ntawm lub fetus.
Qhov thib ob theem yog nqa tawm txij li lub lim tiam 20 ntawm cev xeeb tub, suav nrog kev sau cov ntaub so ntswg rau kev kuaj mob histological. Cov ntshav qaum thiab cov kua amniotic yog qhov zoo tshaj plaws rau cov hom phiaj no. Nyob rau theem no ntawm kev soj ntsuam perinatal, nws muaj peev xwm los txiav txim siab txog tus menyuam lub karyotype nrog qhov tseeb txaus. Yog tias qhov txiaj ntsig ntawm txoj kev tshawb no tsis zoo, ces tsis muaj chromosomal abnormalities, txwv tsis pub muaj cov hauv paus rau kev kuaj mob ntawm Edwards syndrome.
Kev kho mob ntawm Edwards syndrome
Raws li nrog rau lwm yam kab mob caj ces tshwm sim los ntawm chromosomal abnormalities, prognosis rau cov me nyuam nrog Edwards syndrome yog tsis zoo. Ntau tus ntawm lawv tuag tam sim ntawd thaum yug los lossis ob peb hnub, txawm tias muaj kev pab kho mob. Cov ntxhais tuaj yeem nyob tau txog kaum lub hlis, cov tub hluas tuag hauv thawj ob lossis peb xyoos. Tsuas yog 1% ntawm cov menyuam yug tshiab muaj sia nyob mus txog rau hnub nyoog kaum xyoo, thaum muaj kev ywj pheej thiab kev sib raug zoo ntawm kev sib raug zoo tsis muaj lus nug vim muaj kev xiam oob khab loj.
Feem ntau yuav muaj sia nyob hauv thawj lub hlis hauv cov neeg mob uas muaj daim ntawv mosaic ntawm tus mob, vim qhov kev puas tsuaj tsis cuam tshuam rau txhua lub hlwb ntawm lub cev. Daim ntawv mosaic tshwm sim yog tias chromosomal abnormalities tshwm sim nyob rau theem ntawm zygote division, tom qab fusion ntawm txiv neej thiab poj niam kab mob hlwb. Tom qab ntawd lub cell nyob rau hauv uas muaj ib tug nondisjunction ntawm chromosomes, vim hais tias trisomy tau tsim, thaum lub sij hawm kev faib ua rau nce mus rau txawv txav hlwb, uas provokes tag nrho cov pathological phenomena. Yog tias trisomy tshwm sim nyob rau theem ntawm gametogenesis nrog ib qho ntawm cov kab mob, ces tag nrho cov hlwb ntawm tus menyuam hauv plab yuav txawv txav.
Tsis muaj cov tshuaj uas tuaj yeem ua rau muaj feem yuav rov qab los, vim nws tseem tsis tau muaj peev xwm cuam tshuam ntawm qib chromosomal hauv txhua lub hlwb ntawm lub cev. Tib yam uas cov tshuaj niaj hnub tuaj yeem muab tau yog kev kho mob thiab tswj tus menyuam txoj kev noj qab haus huv. Kev kho cov kab mob pathological cuam tshuam nrog Edwards syndrome tuaj yeem txhim kho tus neeg mob lub neej zoo thiab ua kom nws lub neej ntev. Kev phais mob rau lub cev tsis zoo yog tsis pom zoo, vim nws ua rau muaj kev pheej hmoo loj rau tus neeg mob lub neej thiab muaj ntau yam teeb meem.
Cov neeg mob nrog Edwards syndrome los ntawm thawj hnub ntawm lub neej yuav tsum tau soj ntsuam los ntawm ib tug kws kho mob, vim hais tias lawv yog heev yooj yim mus rau kis kab mob. Ntawm cov menyuam mos uas muaj cov kab mob no, kab mob conjunctivitis, kis kab mob ntawm cov kab mob genitourinary, otitis media, sinusitis, thiab mob ntsws muaj ntau.
Cov niam txiv ntawm tus menyuam uas muaj tus mob Edwards feem ntau txhawj xeeb txog cov lus nug ntawm seb puas muaj peev xwm yug menyuam dua, qhov tshwm sim ntawm kev xeeb tub tom ntej no kuj yuav ua rau pathological. Cov kev tshawb fawb tau lees paub tias qhov kev pheej hmoo ntawm kev rov tshwm sim ntawm Edwards syndrome hauv tib khub niam txiv yog tsawg heev, txawm tias piv nrog qhov nruab nrab qhov tshwm sim ntawm 1% ntawm cov neeg mob. Qhov tshwm sim ntawm kev muaj lwm tus menyuam nrog tib lub pathology yog kwv yees li 0,01%.
Txhawm rau txhawm rau kuaj mob raws sij hawm Edwards syndrome, cov niam uas muaj kev cia siab tau raug qhia kom ua qhov kev tshuaj ntsuam xyuas cev xeeb tub thaum cev xeeb tub. Yog tias kuaj pom pathologies nyob rau theem pib ntawm cev xeeb tub, nws yuav muaj peev xwm rho menyuam tawm vim kev kho mob.