Ngesikhathi sokukhulelwa, omama abazayo bahlola ukubeletha ngaphambi kokubeletha ukuze babone ukungalingani kokuqala kwe-fetus. Esinye sezifo ezibi kakhulu kuleli qembu yisifo esichazwe nguJohn Edwards ngo-1960. Ezokwelapha, kwaziwa ngokuthi i-trisomy.
Edwards Syndrome - yini emagama alula?
Esitokisini esilalayo esilisa nesesifazane esinempilo kukhona isethi evamile noma yama haproid yama-chromosomes ngesamba sezingcezu ezingu-23. Ngemuva kokuhlanganiswa benza isitifiketi ngasinye - karyotype. Njengohlobo lwe-DNA-passport, liqukethe idatha ehlukile yofuzo mayelana nengane. I-karyotype evamile noma i-diploid iqukethe ama-chromosomes angu-46, u-2 wohlobo ngalunye, kusuka kumama nobaba.
Ngesi sifo esibucayi, ema-pairs angu-18 kunesici esengeziwe esicacisiwe. Lesi isifo se-trisomy noma i-Edwards - karyotype, equkethe ama-chromosomes angu-47 esikhundleni sezingcezu ezingu-46. Ngezinye izikhathi ikhophi yesithathu ye-chromosome engu-18 ikhona kancane noma ayikho kuwo wonke amaseli. Amacala anjalo ayatholakali atholakala (cishe ama-5%), lezi zingu-nuances aziphazamisi inkambo ye-pathology.
Edwards Syndrome - izimbangela
I-Geneticists ayengakazi ukuthi kungani ezinye izingane zithuthukisa ukuguqulwa kwe-chromosomal echazwe. Kukholelwa ukuthi kuyingozi, futhi akukho izinyathelo zokuzivikela ezivimbelayo. Abanye ochwepheshe baxhumanisa izici zangaphandle ne-Edwards syndrome - izimbangela, ezifakazela ekuthuthukisweni kwezimo eziphuthumayo:
- ukusetshenziswa isikhathi eside kwezidakamizwa, utshwala, ugwayi;
- ukufeza;
- yobudala bomama noma ubaba ngaphezu kuka-45;
- ukutheleleka kwezitho zangasese;
- ukusetshenziswa kwesikhathi eside kwemithi ethinta amagciwane omzimba, i-endocrine nezinhlelo zokuzala;
- ukutholakala kwemisebe yomsakazo.
I-Edwards Syndrome - I-Genetics
Ngokusekelwe emiphumeleni yezifundo zamuva ku-chromosome engama-18 iqukethe izigaba ezingu-557 ze-DNA. Bamba izinhlobo ezingaphezu kuka-289 zamaphrotheni emzimbeni. Ngephesenti yalokhu yi-2.5-2.6% yezinto eziphilayo, ngakho-ke ama-chromosomes ayisishiyagalombili angu-18 ashukunyiswa kakhulu ngokuthuthukiswa komfutho - i-Edwards syndrome yonakalisa amathambo e-skull, izinhliziyo ze-cardiovascular kanye ne-genito-urinary systems. Ukuguqulwa kwamathonya kuthinta ezinye izingxenye zobuchopho kanye nama-plexuses we-peripheral nerve. Ukuze isiguli nesifo se-Edwards, i-karyotype imelelwe, njengoba kubonisiwe kumfanekiso. Ubonisa ngokucacile ukuthi zonke izinethi zihlanganisiwe, ngaphandle kwezilungiselelo ezingu-18.
Imvamisa yesifo se-Edwards
Lezi zifo ezingavamile, ikakhulukazi uma kuqhathaniswa nokungafani kahle kwezakhi zofuzo. Isifo se-Edwards syndrome sitholwa enganeni eyodwa engama-7,000 ezinsana ezinempilo, ikakhulukazi emantombazaneni. Ngeke uqiniseke ukuthi iminyaka kayise noma udaba luthinta kakhulu amathuba okuba khona kwe-trisomy 18. I-Edwards syndrome ibonakala kubantwana kuphela ngo-0.7% kaningi uma abazali bengaphezu kweminyaka engama-45 ubudala. Lokhu kuguqulwa kwe-chromosomal kutholakala phakathi kwabantwana abancane abakhulelwe besencane.
Edwards Syndrome - izimpawu
Lesi sifo esicatshangelwayo sinesithombe esithile esitholakala emtholampilo esivumela ukucacisa ngokunembile i-trisomy 18. Kunezinhlobo ezimbili zezibonakaliso ezihambisana ne-Edwards syndrome - izimpawu zihlukaniswa ngokujwayelekile ukwehluleka kwangaphakathi komzimba nokungaphambuki kwangaphandle. Uhlobo lokuqala lokubonakalisa luhlanganisa:
- umbilical, hernia inguinal;
- ukukhubazeka kwenhliziyo okuzalwa ngaphakathi ;
- ukungabikho kokugoma nokugwinya i-reflex;
- i-diverticulum yeMeckel ;
- reflux ye-gastroesophageal;
- i-atresia ye-anus noma isisu;
- ukuxuba kwe-clitoris;
- ukuthuthukiswa kwe-corpus callosum, i-cerebellum;
- cryptorchidism ;
- isikhundla esingalungile samathumbu;
- hypospadias;
- ukuphindaphindiwe kabili ka-ureters;
- i-atrophy noma i-smoothing ye-convolutions ye-cerebral;
- izinso ezinama-segmented noma amahhashi;
- ama-ovarie angafundiwe;
- umjikelezo ophihliziwe;
- i-dystrophy yemisipha;
- isisindo somzimba esincane (cishe 2 kg ngesikhathi sokuzalwa).
Ngaphandle, kulula ukubona i-Edwards syndrome - isithombe sezingane ezine-trisomy 18 sibonisa ukuba khona kwalezi zimpawu ezilandelayo:
- ikhanda elincinci elincane;
- ukuma kwesimo esiphambene;
- glottis encane futhi emfushane;
- izindlebe eziphukile, izindlebe ezingezansi (ezolulwe ngokuzungezile);
- ukungabi khona kwe-lobes, ngezinye izikhathi - tragus ngisho nendlebe yomlomo;
- esifubeni esifushane nesibanzi;
- umhlathi ophansi ongathuthuki;
- umlomo omncane, uvame ukuvulwa nge-triangular ngenxa ye-lip engenhla elandelwayo;
- Ibhuloho elikhulisiwe elisempumeni;
- "Ukuzamazama" ";
- izinambuzane phakathi kweminwe noma i-fusion yazo (izitho ezinjenge-flap);
- i-palate ephakeme, ngezinye izikhathi nge-cleft;
- Intamo emfushane nekholomu evelele igoqa;
- imigqa eguquguqukayo kanye ne-scallops ezintendeni;
- ama-hemangiomas nama-papillomas esikhumbeni;
- i-ptosis yamajwabu amehlo;
- i-strabismus;
- ukuqhuma kwesikhala nesiphansi.
I-Edwards Syndrome - Ukuxilongwa
Isifo esichazwayo se-genetic sibonisa ngqo ukukhipha isisu. Izingane ezine-Edwards syndrome ngeke zikwazi ukuhlala ngokugcwele, futhi impilo yabo izohlabalala ngokushesha. Ngenxa yalesi sizathu, kubalulekile ukuxilonga i-trisomy 18 ngosuku lokuqala kunokwenzeka. Ukuze unqume lokhu kuhlolwa, kuhlolwe ukuhlolwa okuningi okufundisayo.
Ukuhlaziywa kwe-Edwards Syndrome
Kukhona amasu angenayo-invasive futhi engavamile ekutadisheni izinto eziphilayo. Uhlobo lwesibili lwezilingo lubhekwa njengokwethenjelwa kakhulu futhi lunokwethenjelwa, kusiza ukukhomba i-Edwards syndrome ebusweni ekuqaleni kwezinyathelo zokuthuthukiswa. Okungeyona inhlamba ukuhlolwa okujwayelekile ngaphambi kokubeletha kwegazi lomama. Izindlela zokuxilonga ezivamile zifaka:
- I-chorionic villus biopsy. Ucwaningo lwenziwe kusuka emavikini angu-8. Ukwenza ukuhlaziywa, ucezu lwegobolondo le-placenta liyanqunywa, ngoba isakhiwo salo cishe silinganisane ngokuphelele nezicubu zesisu.
- Amniocentesis . Ngesikhathi sokuhlolwa, kuthathwa isampula se-amniotic fluid. Le nqubo inquma isifo se-Edwards kusukela ngesonto le-14 lokubeletha.
- Cordocentesis. Ukuhlaziywa kudinga igazi elincane lomthambo we-fetus, ngakho-ke le ndlela yokuxilongwa isetshenziswa kuphela ezinsukwini ezedlule, kusukela emavikini angu-20.
Ingozi ye-Edwards Syndrome ku-Biochemistry
Ukuhlolwa kokubeletha okwenziwa ngaphambi kokubeletha kwenziwa ngenyanga yokuqala yokukhulelwa. Umama wesikhathi esizayo kufanele anikele ngegazi ngesikhathi sesonto le-11 ukuya kweleshumi nesishiyagalolunye sokubeletha kokuhlaziywa kwamakhemikhali. Ngokusekelwe emiphumeleni yokunquma izinga le-chorionic gonadotropin ne-plasma amaprotheni A, ingozi ye-Edwards syndrome ebusweni ibalwa. Uma kuphakamile, lona wesifazane ulethwe eqenjini elifanele esigabeni esilandelayo socwaningo (invasive).
I-Edwards syndrome - izimpawu nge-ultrasound
Lolu hlobo lokuxilongwa aluvamile ukusetshenziswa, ikakhulukazi ezimweni lapho owesifazane okhulelwe engakaze ahlolwe ukuhlolwa kwesifo sofuzo. I-Edward's syndrome e-ultrasound ingabonakala kuphela emibhalweni yamuva, lapho ingane isuke isungulwe ngokuphelele. Izimpawu zesimo se-trisomy 18:
- ukungena kwe-intrauterine ye-cardiovascular and genitourinary system;
- Izakhiwo ezingenayo izicubu ze-musculoskelet;
- ukukhubazeka kwamathambo e-skull kanye nezicubu ezithambile zekhanda.
- Izimpawu ezingaqondile zesifo kwi-ultrasound:
- i-bradycardia;
- ukubambezeleka kokuthuthukiswa komntwana;
- umshini owodwa emgqeni we-umbilical (kufanele kube khona amabili);
- i-hernia emgodini wesisu;
- ukungabikho kwamathambo ekhaleni.
Edwards Syndrome - ukwelashwa
Ukwelashwa kwe-mutation okuhlolwe kuhloswe ukunciphisa izimpawu zalo nokusiza impilo yengane. Ukwelapha i-Edward's syndrome futhi uqinisekise ukuthuthukiswa okuphelele kwengane ayikwazi. Imisebenzi yezokwelapha ejwayelekile isekela:
- ubuyisele ukudla kokudla nge-atresia ye-anus noma emathumbu;
- ukuhlela ukondla nge-probe ngokumelene nesimo sokungabikho kokugoma nokugwinya izingqondo;
- ukuqiniswa kokusebenza kwesimiso senhliziyo;
- ukuvuselela ukuphuma komchamo.
I-Edwards 'syndrome yezingane ezisanda kuzalwa ngokungezelelwe idinga ukusetshenziswa kwezidakamizwa ezilwa nokuvuvukala, antibacterial, hormonal nezinye izidakamizwa. Kudingekile ukwelapha okusheshayo okufika ngesikhathi kuzo zonke izifo ezihambisanayo, okubangela ukuthi:
- I-Wilms tumor ;
- i-conjunctivitis;
- i-pneumonia;
- i-otitis media;
- i-pulmonary hypertension;
- i-sinusitis;
- izifo zokuhlukunyezwa kwamagciwane;
- i-frontitis;
- ukucindezeleka kwegazi kanye nabanye.
Edwards Syndrome - ukubikezela
Iningi lemibungu ne-genetic anomaly echazwe ngesikhathi sokubeletha ngenxa yokwenqatshwa ngumzimba we-fetus ephansi. Ngemuva kokuzalwa, ukubikezela nakho kuyadumaza. Uma i-Edwards syndrome itholakale, zingaki izingane ezinjalo ezihlala, sizocabangela ngamaphesenti:
- 60% - hhayi izinyanga ezintathu;
- 7-10% - unyaka owodwa;
- cishe 1% - kuze kufike eminyakeni engu-10.
Ezimweni ezihlukile (i-trisomy engezansi noma i-mosaic 18), amayunithi angathola ukuvuthwa. Ngisho nasezimo ezinjalo, i-syndrome kaJohn Edwards ngeke iqhubekele phambili. Izingane ezikhulile ezinalezi zifo zihlala zi-oligophrenic kuze kube phakade. Isikhulu esingazifundiswa:
- phakamisa ikhanda lakho;
- smile;
- ngokuzimela lapho;
- ukuqaphela umbuthano onqunyelwe wabantu.