Thaum cev xeeb tub, cov niam txiv yav tom ntej ua qhov kev ntsuam xyuas poj niam ua ntej kom paub txog kev xeeb tub thaum ntxov ntawm tus me nyuam hauv plab. Ib qho ntawm cov kab mob loj tshaj plaws ntawm pawg no yog qhov Syndrome tau piav qhia los ntawm John Edwards hauv xyoo 1960. Hauv tshuaj, nws yog hu ua trisomy.
Edwards Syndrome - nws yog lus yooj yim li cas?
Nyob rau hauv kev noj qab haus huv txiv neej thiab poj niam deev cov poj niam muaj cov txheej txheem los yog haploid ntawm chromosomes nyob rau hauv ib qho nyiaj ntawm 23 pieces. Tom qab lub merger lawv ua ib pawg neeg - karyotype. Nws yog ib hom DNA-passport, muaj cov ntaub ntawv qhia txog caj ces txog tus menyuam. Ib txwm lossis diploid karyotype muaj 46 chromosomes, 2 ntawm txhua hom, ntawm niam thiab txiv.
Nrog rau tus kab mob nug, nyob rau hauv 18 khub muaj yog ib qho kev sib ntxiv uas sib npaug. Qhov no yog trisomy los yog Edwards syndrome - karyotype, muaj 47 chromosomes siv 46 daim. Qee zaum peb daim luam ntawm 18 lub chromosome yog ib qho los sis tsis tshwm sim nyob rau hauv txhua lub hlwb. Cov mob no tsis tshua pom muaj (li ntawm 5%), cov nuances no tsis cuam tshuam rau cov kab mob pathology.
Edward Syndrome - qhov ua rau ntawm
Geneticists tseem tsis tau paub hais tias yog vim li cas qee tus me nyuam los tsim kho qhov kev hloov chromosomal. Nws ntseeg tias nws yog qhov yuam kev, thiab tsis muaj kev tiv thaiv kev ntsuas los tiv thaiv nws tau tsim. Qee cov kws txawj txuas lwm yam thiab Edwards syndrome - qhov ua rau, supposedly nrog rau kev txhim kho ntawm anomalies:
- kev siv lub sijhawm siv tshuaj, haus dej cawv, haus luam yeeb;
- heredity;
- hnub nyoog ntawm leej niam los yog leej txiv tshaj 45 xyoo;
- tus kab mob ntawm tus qau;
- kev siv cov tshuaj ntev uas cuam tshuam rau kev tiv thaiv kab mob rau lub cev, endocrine thiab reproductive systems;
- raug hluav taws xob tawg.
Edwards Syndrome - Cov noob caj noob ces
Raws li cov ntsiab lus ntawm cov kev tshawb fawb tsis ntev los no hauv 18 lub chromosome muaj 557 DNA seem. Lawv encode ntau tshaj 289 hom proteins nyob rau hauv lub cev. Hauv ib feem pua ntawm qhov no yog 2.5-2.6% ntawm cov khoom siv tshuaj, yog li ntawm peb qhov chromosomes thib peb zoo li cuam tshuam los ntawm fetal txoj kev loj hlob - Edwards syndrome ua rau pob txha ntawm pob txha, cov hlab plawv thiab genito-urinary systems. Txoj kev hloov no cuam tshuam rau qee qhov ntawm lub paj hlwb thiab cov hlab ntsha peripheral plexuses. Rau ib tus neeg mob Edwards syndrome, lub karyotype muaj tuaj sawv cev, raws li qhia hauv daim duab. Nws qhia meej meej hais tias txhua qhov poob lawm yog khub, tshwj tsis yog 18 poob lawm.
Tus zaus ntawm Edwards syndrome
Cov kab mob pathology no tsis tshua muaj, tshwj xeeb tshaj yog thaum muab piv rau qhov paub ntau dua kev paub txog kev caj ces genetic abnormalities. Disease Edwards syndrome tau kuaj pom ib tus menyuam mosliab ntawm 7,000 tus menyuam mosliab, feem ntau yog cov menyuam ntxhais. Nws tsis tuaj yeem paub tias hnub nyoog ntawm leej txiv los yog qhov teeb meem tseem cuam tshuam qhov tshwm sim ntawm kev tshwm sim ntawm trisomy 18. Edwards syndrome tshwm sim hauv cov me nyuam tsuas yog 0.7% feem ntau yog tias cov niam txiv muaj hnub nyoog tshaj 45 xyoo. Qhov kev hloov ntawm chromosomal no kuj muaj nyob rau ntawm cov me nyuam me xeeb ntawm ib tus me nyuam hluas.
Edward Syndrome - cov paib
Tus kab mob nyob rau hauv kev saib xyuas tau muaj ib daim duab qee cov kev kuaj mob kom paub meej tseeb trisomy 18. Muaj ob pawg ntawm cov cim qhia nrog Edwards syndrome - cov tsos mob ntawm cov tsos mob tau raug muab cais ua rau hauv nruab nrog cev tsis ua haujlwm thiab sab nraud deviations. Thawj hom kev tshwm sim muaj xws li:
- umbilical, inguinal hernia;
- mob plawv tsis zoo ;
- tsis muaj kev nqhis dej thiab nqos taub hau;
- diverticulum ntawm Meckel ;
- gastroesophageal reflux;
- atresia ntawm qhov anus lossis mob plab roj ntsha;
- hypertrophy ntawm lub qhov quav;
- underdevelopment ntawm tus kab mob hu ua corpus, cerebellum;
- cryptorchidism ;
- qhov chaw tsis zoo ntawm txoj hnyuv;
- hypospadias;
- doubling ntawm ureters;
- atrophy lossis kev sib tsoo ntawm cerebral convolutions;
- segmented los yog horseshoe-zoo li lub raum;
- unformed lub zes qe menyuam;
- ntxeev qaum;
- npab dystrophy;
- tsawg lub cev hnyav (li 2 kg thaum yug).
Tshaj tawm, ib yam nkaus, nws yog ib qho yooj yim uas qhia tau Edwards syndrome - tus yees duab ntawm cov me nyuam mos liab nrog trisomy 18 qhia tau hais tias muaj cov kev mob tshwm sim hauv qab no:
- tsis meej pem taub hau me me;
- distorted ntsej muag zoo nkauj;
- nqaim thiab luv luv glottis;
- deformed, low-lying pob ntseg (stretched horizontally);
- tsis tuaj ntawm lobes, qee zaum - tragus thiab txawm lub pob ntseg kwg deg;
- luv luv thiab sab hauv siab;
- underdeveloped qab puab tsaig;
- lub qhov ncauj me me, feem ntau muaj qhov voos qhib qhov voos vim qhov poob ntawm daim di ncauj tsawg dua;
- Npaj kom loj hlob ntawm lub taub ntswg;
- "Kev Nres";
- lub nruab nrab ntawm cov ntiv tes los yog lawv cov fusion (lub ntsej muag zoo li cov ceg ntoo);
- high palate, qee zaum nrog ib tug cleft;
- Luv luv nrog lub ntsej muag luag;
- transverse furrows thiab scallops ntawm lub xib teg;
- hemangiomas thiab papillomas ntawm daim tawv nqaij;
- ptosis ntawm ob lub qhov muag daj;
- strabismus;
- protruding occiput thiab qis pliaj.
Edwards Syndrome - Kev kuaj mob
Cov kab mob uas tau piav qhia tau yog ib qho ncaj qha rau kev rho menyuam. Cov me nyuam nrog Edwards syndrome no yeej tsis muaj peev xwm nyob tag nrho, thiab lawv txoj kev noj qab haus huv yuav sai sai dua qub. Vim li no, nws yog ib qho tseem ceeb rau kev ntsuam xyuas lub cev trisomy 18 thaum hnub nyoog ntxov tau. Los txiav txim siab txog kab mob no, ntau cov kev ntsuam xyuas tau tsim muaj.
Tsom xam rau Edwards Syndrome
Muaj cov kev ua haujlwm tsis yog thiab ua haujlwm rau kev kawm biological khoom. Hom kev kuaj thib ob yog suav tias yog feem xyuam nrog kev txhim kho thiab txhim khu kev ntseeg, nws pab qhia txog Edwards syndrome nyob rau hauv lub fetus thaum ntxov ntawm kev loj hlob. Tsis yog-tus qauv yog kev kuaj ntshav ntawm tus niam cov ntshav. Cov kev tshuaj ntsuam xyuas muaj xws li:
- Chorionic villus biopsy. Txoj kev tshawb no yog ua los ntawm 8 lub limtiam. Ua lub ntsuas, ib qho ntawm lub plhaub plab hauv plab plev yog plucked, vim hais tias nws cov qauv yuav luag txig nrog cov nqaij mos ntawm fetal.
- Amniocentesis . Thaum kuaj, ib qho piv txwv ntawm amniotic kua dej. Txoj kev ua haujlwm no yog txiav txim siab txog Edwards syndrome los ntawm lub sijhawm 14th ntawm kev kuaj mob.
- Cordocentesis. Qhov kev tshuaj ntsuam no yuav tsum tau tso ntshav me me ntawm lub fetus me ntsis, yog li no txoj kev kuaj mob tsuas yog siv rau hnub lig, txij li 20 lub limtiam.
Txoj kev pheej hmoo ntawm Edwards Syndrome hauv Biochemistry
Kev kuaj poj niam cev xeeb tub yog ua tiav hauv thawj peb lub hlis thaum cev xeeb tub. Lub neej yav tom ntej leej niam yuav tsum pub cov ntshav thaum lub sij hawm 11 txog 13th ntawm kev ua niam txiv rau kev tshawb fawb txog biochemical. Raws li cov txiaj ntsim ntawm kev txiav txim siab txog theem ntawm chorionic gonadotropin thiab plasma protein A, qhov kev pheej hmoo ntawm Edwards syndrome nyob rau hauv ib tug fetus yog xam. Yog tias nws siab, tus poj niam yuav raug coj mus rau pawg uas tsim nyog rau theem tom ntej ntawm kev tshawb fawb (tus neeg).
Edwards syndrome - kos npe los ntawm ultrasound
Hom mob no tsis tshua muaj siv, feem ntau yog thaum tus poj niam cev xeeb tub tsis tau kuaj qhov tshuaj ntsuam thawj zaug. Edward's syndrome ntawm ultrasound tuaj yeem pom nyob rau hauv cov ntsiab lus tom qab, thaum lub fetus yuav luag tag nrho. Cov tsos mob ntawm tus mob trisomy 18:
- intrauterine malformations ntawm cov hlab plawv thiab cov kab mob genitourinary;
- anomalies ntawm cov kab mob musculoskeletal;
- pathology ntawm cov pob txha ntawm pob txha taub hau thiab cov nqaij mos ntawm lub taub hau.
- Cov cim qhia tseeb ntawm tus kab mob ultrasound:
- bradycardia;
- qeeb hauv kev loj hlob hauv plab;
- ib leeg nyob hauv txoj hlab ntaws (yuav tsum muaj ob);
- hernia hauv kab plab;
- tsis pom kev ntawm cov pob txha ntawm lub qhov ntswg.
Edwards Syndrome - kev kho mob
Txoj kev kho ntawm qhov kev hloov kho yog tsom rau kev ua rau nws cov tsos mob thiab pab txhawb lub neej ntawm tus me nyuam mos. Kho Edward's syndrome thiab xyuas kom tus menyuam txoj kev loj hlob tsis muaj peev xwm. Kev pabcuam kev noj qab haus huv pabcuam:
- muab cov khoom noj khoom haus rov qab los ntawm txoj kev tuaj ntawm lub qhov quav los yog txoj hnyuv;
- los npaj cov khoom noj los ntawm kev sojntsuam rau tom qab ntawm kev qhaj kev nqhis thiab nqos dej;
- tswj kev ua haujlwm ntawm cov kab mob plawv;
- normalize lub outflow ntawm cov zis.
Feem ntau Edwards 'syndrome ntawm cov menyuam mos ntxiv no yuav tsum siv cov tshuaj tua kab mob, tshuaj tua kab mob, tshuaj hormonal thiab lwm yam tshuaj yeeb. Nws yog ib qhov tsim nyog rau kev kho mob raws sij hawm rau txhua tus kab mob, uas nws provokes:
- Wilms qej ;
- conjunctivitis;
- mob ntsws o;
- otitis media;
- txha ntsig ntshav siab;
- sinusitis;
- urinos-genital infections;
- frontitis;
- ntshav siab thiab lwm tus neeg.
Edward Syndrome - qhov kev mob
Feem ntau cov embryos uas tau piav qhia tias genetic anomaly tuag thaum lub sij hawm gestation vim yog thim rov qab los ntawm lub cev ntawm tus me nyuam hauv plab. Tom qab yug los, qhov kev twv txiaj tseem yog kev poob siab. Yog tias tus mob Edwards syndrome, muaj pes tsawg tus menyuam nyob, peb yuav xav txog feem pua:
- 60% - tsis pub ntev tshaj 3 lub hlis;
- 7-10% - 1 xyoos;
- txog 1% - txog 10 xyoo.
Hauv cov rooj plaub tshwj xeeb (ib nrab lossis mosaic trisomy 18), cov koog muaj peev xwm kom loj hlob. Txawm tias zoo li no, John Edwards syndrome no yuav ua rau kev vam meej. Cov menyuam yaus uas muaj cov kab mob pathology no tseem nyob rau qhov siab nyob rau ntawm cov oligophrenic. Qhov siab tshaj plaws uas lawv qhia tau:
- tsa koj lub taub hau;
- luag nyav;
- ntawm nws tus kheej;
- kom paub txog ib lub voj voog ntawm cov neeg.