Yayin da ake ciki, iyayensu na gaba za su yi nazari don fara gano mahaukaci na tayin. Daya daga cikin cututtuka mafi tsanani daga wannan rukuni shine ciwon da Yahaya Edwards ya bayyana a shekarar 1960. A magani, an san shi da trisomy.
Edwards Syndrome - Mene ne a cikin kalmomi masu sauki?
A cikin kwayar halitta na namiji da na mace mai kyau yana da daidaitattun ka'idodin chromosomes a cikin adadin guda 23. Bayan haɗuwa su zama kaya - karyotype. Shi a matsayin irin DNA-fasfo, ya ƙunshi bayanan kwayoyin halitta game da yaro. Karyotype na al'ada ko diploid ya ƙunshi 46 chromosomes, 2 na kowane nau'i, daga uwa da uba.
Tare da cutar a cikin tambaya, a cikin nau'i-nau'i 18 akwai wasu ƙididdiga. Wannan ƙwayar cuta ne ko Edwards syndrome - karyotype, wanda ya ƙunshi 47 chromosomes maimakon 46 guda. Wani lokaci wani nau'i na uku na 18 chromosome ya kasance a wani ɓangare ko ba ya faruwa a cikin dukkan kwayoyin jikinsu. Irin waɗannan lokuta suna da wuya a gano su (game da 5%), waɗannan nuances ba su shafar hanyar da ake ciki ba.
Edwards Syndrome - Sanadin
Kwayoyin halitta basu riga sun gano dalilin da yasa wasu yara suke inganta fasalin juyin halittar chromosomal. An yi imani cewa yana da haɗari, kuma babu wani matakan da zai hana shi. Wasu masana sun haɗu da abubuwan da ke waje da kuma Edwards ciwo - abubuwan da suke haddasawa, suna zaton suna taimakawa wajen ci gaba da ciwo:
- amfani da kwayoyi, barasa, taba;
- ladabi;
- shekarun uwa ko mahaifinsa fiye da 45;
- kamuwa da abubuwan da ke ciki;
- Amfani da magungunan da ke shafar rigakafi, endocrin da tsarin haihuwa;
- bayyanar da radiation radioactive.
Edwards Syndrome - Genetics
Bisa ga sakamakon binciken da aka yi kwanan nan a cikin 18 chromosome ya ƙunshi sassa 557 na DNA. Sun sanya fiye da 289 irin sunadarai a cikin jiki. A yawancin wannan shine 2.5-2.6% na kwayoyin halitta, don haka nakasa na uku na nakalto na 18 sun kamu da ciwon tayi - Edwards syndrome ya lalata ƙasusuwan kwanyar, kwakwalwa da kwayoyin halitta-urinary. Sakamakon yana maye gurbin wasu ɓangarori na kwakwalwa da kwakwalwar ƙwayar jiki. Ga mai haƙuri tare da Edwards ciwo, an kwatanta karyotype, kamar yadda aka nuna a cikin adadi. Ya nuna a fili cewa dukkanin jinsuna suna haɗuwa, sai dai guda 18.
Mutuwar ciwo na Edwards
Wannan cututtuka ba shi da mahimmanci, musamman ma idan aka kwatanta da mafi yawan ƙwarewar kwayoyin halitta. Ciwon daji na Edwards ya kamu da shi a cikin jariri na yara 7,000, mafi yawa a cikin 'yan mata. Ba za a iya tabbatar da cewa shekarun mahaifinsa ko kuma kwayoyin halitta yana shafar yiwuwar samuwa na tayi ba. 18. Ƙungiyar Edwards tana faruwa a yara kawai 0.7% sau da yawa idan iyaye sun wuce shekaru 45. Wannan maye gurbin chromosomal yana samuwa a tsakanin 'yan jariri da aka haifa a ƙuruciyarsu.
Edwards Syndrome - alamu
Kwayar da aka yi la'akari da shi yana da hoto na musamman na hoto wanda ya ba da damar ƙaddara ƙaddararsa. 18. Akwai alamu biyu na alamu da ke tare da ciwo na Edwards - an nuna alamun bayyanar a cikin ɓangaren gaɓoɓin ciki da kuma ɓatacciyar waje. Na farko irin bayyanar ya hada da:
- umbilical, inguinal hernia;
- ciwon zuciya maras kyau ;
- babu tsotsa da haɗiye reflex;
- Hanyar Meckel ;
- gastroesophageal reflux;
- atresia na anus ko esophagus;
- hypertrophy na clitoris;
- underdevelopment na corpus callosum, cerebellum;
- cryptorchidism ;
- matsanancin matsayi na hanji;
- hypospadias;
- maƙwabtaka da zalunci;
- atrophy ko smoothing na cerebral shawarwari;
- segmented ko kofaton ƙarfe-dimbin yawa koda;
- ovaries marasa lafiya;
- Twisted kashin baya;
- muscular dystrophy;
- low nauyi jiki (kimanin 2 kg a haihuwa).
Har ila yau, yana da sauƙin gane cututtuka na Edwards - hoto na jarirai tare da ƙyama 18 ya nuna kasancewar wadannan alamun cututtuka:
- ƙananan ƙananan shugaban;
- gurbin fuskar fuska;
- ƙananan kuma gajere glottis;
- maras kyau, ƙananan kunnuwa (shimfiɗa tsaye);
- babu lobes, wani lokacin - tragus har ma da kunne canal;
- gajere da m kirji;
- underdeveloped m muƙamuƙi;
- ƙananan bakin, sau da yawa yana da ɓoye na ɓangaren mahaɗi saboda ƙwararren ƙwararren ƙwayar cuta;
- Ƙungiya ta haɓaka ta haɓaka;
- "Kashewa";
- membranes tsakanin yatsunsu ko kuma haɗarsu (launi-kamar wata gabar jiki);
- high palate, wani lokaci tare da cleft;
- Ƙunƙan wuyansa tare da ƙuƙƙwarar ƙwararren ɓoye;
- ketare furrows da scallops a kan dabino;
- hemangiomas da papillomas a kan fata;
- ptosis na eyelids;
- strabismus;
- matsar da ke ciki da ƙananan goshi.
Edwards Syndrome - Sanin asali
Magungunan kwayoyin da aka bayyana sune kai tsaye ga zubar da ciki. Yara da ke ciwo da Edwards ba za su taba zama cikakke ba, kuma lafiyarsu za ta ci gaba sosai. Saboda wannan dalili, yana da muhimmanci a tantance asibiti 18 a farkon kwanan wata. Don ƙayyade wannan farfadowa, an tsara cibiyoyin bayanai da yawa.
Analysis for Edwards Ciwo
Akwai hanyoyi masu ban sha'awa da kuma ruɗata don nazarin abubuwa na halitta. Na biyu gwaje-gwajen na daukar nauyin mafi aminci da abin dogara, yana taimakawa wajen gano ciwo Edwards a cikin tayin a farkon matakai. Abun da ba shi da haɗari shine daidaitattun zane-zane game da jinin mahaifiyar. Hanyoyi masu fashewa sun hada da:
- Chorionic villus biopsy. An gudanar da binciken ne daga makonni takwas. Don yin nazarin, an cire wani harsashi na placenta, saboda tsarinsa kusan daidai ya dace da nau'in tayin.
- Amniocentesis . A lokacin gwaji, an dauki samfurin ruwa mai ɗimbin ruwa. Wannan hanya tana ƙaddamar da ciwon Edwards daga makon 14 na gestation.
- Cordocentesis. Binciken yana buƙatar ƙananan ƙwayar ƙwayar jinin tayin, don haka wannan hanyar ganewar asali ana amfani dashi ne kawai a ƙarshen kwanakin, daga makonni 20.
Hadarin na Edwards ciwo a Biochemistry
An yi nazari kan hanzari a farkon farkon shekaru uku na ciki. Dole ne mahaifiyar nan gaba ta ba da gudummawar jini a lokacin na 11 zuwa 13 na gestation don nazarin kwayoyin halitta. Bisa ga sakamakon binciken ƙaddarar gonadotropin chorionic da furotin plasma A, an ƙidaya hadarin Edwards ciwo a cikin tayi. Idan yana da girma, an kawo mace a cikin kungiya mai dacewa don mataki na gaba na bincike (ɓarna).
Edwards ciwo - alamun ta duban dan tayi
Wannan nau'i na ganewar asali ne da wuya a yi amfani dashi, musamman a lokuta yayin da mace mai ciki ba ta taɓa samuwa ta farko ba. Abun ciwon Edward a kan duban dan tayi zai iya gano shi kawai a cikin sharuddan baya, lokacin da tayi cikakkiyar kafa. Halaye bayyanar cututtuka na trisomy 18:
- malformations intrauterine na tsarin na zuciya da jijiyoyin jini;
- anomalies na tsarin musculoskeletal;
- pathology na ƙasusuwa na kwanyar da kayan kyallen launin kai na kai.
- Alamar kai tsaye ta cutar a kan duban dan tayi:
- bradycardia;
- jinkirta cikin ci gaban tayi;
- Ɗaya daga cikin maganganu a cikin igiya (akwai biyu);
- a hernia a cikin rami na ciki;
- gani ba tare da kasusuwa na hanci ba.
Edwards Syndrome - magani
Sakamakon maye gurbi da aka yi nazari yana nufin kawar da alamunta da kuma inganta rayuwar jaririn. Cure Edward na ciwo da kuma tabbatar da cikakken yaro ba zai iya. Ayyukan kiwon lafiya na asali suna taimakawa:
- sake dawo da abinci tare da atresia na anus ko intestine;
- don tsara ciyarwa ta hanyar bincike kan tushen da ba tare da shan ba da haɗiye ƙwararru;
- tabbatar da aiki na tsarin na zuciya da jijiyoyin jini;
- Zama al'amuran fitsari.
Sau da yawa Editar 'ciwo na jarirai ya buƙaci amfani da anti-inflammatory, antibacterial, hormonal da wasu kwayoyi masu karfi. Ya wajaba don dacewa da lafiya na dukan cututtukan da ke hade, wanda hakan ya haifar:
- Wilms tumo ;
- conjunctivitis;
- ciwon huhu;
- maganin otitis;
- karfin jini na jini;
- sinusitis;
- Abune-cututtuka na asibiti;
- frontitis;
- hawan jini da sauransu.
Edwards Syndrome - hangen nesa
Yawancin embryos tare da kwayoyin halitta da aka kwatanta sun mutu a lokacin gestation saboda kin amincewa da jiki na tayin. Bayan haihuwar, zane-zane yana da damuwa. Idan aka gano cutar ta Edwards, yawancin yara suna rayuwa, za mu yi la'akari da kashi-kashi:
- 60% - ba fiye da watanni uku ba;
- 7-10% - 1 shekara;
- game da 1% - har zuwa shekaru 10.
A cikin lokuta masu ban mamaki (muni ko mosaic trisomy 18), raka'a zasu kai ga balaga. Koda a cikin irin wannan yanayi, ciwon daji na John Edwards zai ci gaba sosai. Yarar da ke da irin wannan ilimin ya kasance har abada. Matsakaicin da za a iya koya musu:
- tãyar da kai;
- murmushi;
- da kansa a can;
- don gane ƙungiyar mutane masu iyaka.