Ngethuba lokukhulelwa, oomama baya kukhangela ukuhlolwa kwangaphambi kokubeletha ukufumanisa ukungaqhelekanga kokuzalwa kwe-fetus. Esinye sezifo ezibi kakhulu kweli qela yisifo esichazwe nguJohn Edwards ngo-1960. Kwimichiza, yaziwa ngokuba yi-trisomy.
I-Edwards Syndrome - yintoni ngamazwi alula?
Kwiseli yokuzala yesilisa kunye nesetyhini kunomlinganiselo osemgangathweni okanye we-haploid wama-chromosomes kwisixa seengxowama ezingama-23. Emva kokudibanisa benza i-kit karyotype nganye. Ufana nohlobo lwe-DNA-ipasipoti, liqukethe idatha ekhethekileyo yemfuza ngomntwana. I-karyotype evamile okanye ye-diploid iqukethe ama-chromosomes angama-46, u-2 kwimihlobo nganye, evela kumama noyise.
Ngesi sifo esibuzwayo, kwiibini ezili-18 kukho enye into ephindaphindiweyo. Le trisomy okanye i-Edwards syndrome - karyotype, equkethe ama-47 ama-chromosomes esikhundleni seengqununu ezingama-46. Ngamanye amaxesha ikopi yesithathu ye-chromosome engama-18 ikhona ngokukodwa okanye ayikho kuzo zonke iiseli. Iimeko ezinjalo azifanekiyo (malunga ne-5%), le miqondo ayichaphazeli inkqubo ye-pathology.
I-Edwards Syndrome - izizathu ze
I-Geneticists ayengakafumani isizathu sokuba abanye abantwana bahlakulele ukuguqulwa kwe-chromosomal echazwe. Kukholelwa ukuba kuyingozi, kwaye akukho namanyathelo okukhusela ekukhuseleni. Ezinye iingcali zidibanisa iziganeko zangaphandle kunye ne-Edwards syndrome-izizathu, ezibandakanya ukuba negalelo ekuphuhliseni iziphulo:
- Ukusetyenziswa ixesha elide kweziyobisi, utywala, ucuba;
- ukuzalwa;
- ubudala benina okanye uyise ongaphezu kweminyaka engama-45;
- ukusuleleka kwezesondo;
- Ukusetyenziswa kwexesha elide lemithi echaphazela i-immune, i-endocrine kunye neenkqubo zokuzala;
- ukuboniswa kwemisebe yomsakazo.
I-Edwards Syndrome - i-Genetics
Ngokusekelwe kwiziphumo zophando zakutshanje kwi-chromosome engama-18 iqukethe izigaba ezingama-DNA ezingama-557. Bafaka iintlobo ezingaphezu kwe-289 zeeprotheni emzimbeni. Kwipesenti yale nto i-2.5-2.6% yezinto eziphathekayo zofuzo, ngoko i-chromosomes ye-18 yesithathu ifuthe kakhulu ngophuhliso lwe-fetal - i-Edwards syndrome yonakalisa amathambo enkayi, i-cardiovascular and genit-urinary systems. Ukutshintshwa kwezinto kuphazamisa ezinye iinjongo zeengqondo kunye neengcingo zengxube. Kwisigulane se-Edwards syndrome, i-karyotype imele, njengoko kuboniswe kumfanekiso. Uyabonisa ngokucacileyo ukuba zonke iisethi zidibene, ngaphandle kweesethi ezili-18.
Ubume be-Edwards syndrome
Le ntsholongwane inqabile, ngakumbi xa kuthelekiswa nokungaqhelekanga kwezityalo zofuzo. Isifo se-Edwards syndrome sifumaneka kwiintsana ezingama-7 000 ezinempilo, ikakhulukazi kumantombazana. Ayikwazi ukunyanzelwa ukuba iminyaka yobudala okanye uyise okanye umba uphazamisa kakhulu amathuba okuvela kwe-trisomy 18. I-Edwards syndrome ivele kubantwana kuphela ngo-0.7% ngaphezulu ukuba ngaba abazali baneminyaka engaphezu kwengu-45 ubudala. Olu tshintsho lwama-chromosomal lufumaneka nakwabantwana abancinci abakhulelweyo beselula.
Edwards Syndrome - iimpawu
Isifo esicatshungulwayo sinomfanekiso othile weklinikhi ovumela ukucacisa ngokuchanekileyo i-trisomy 18. Kukho amaqela amabini eempawu ezihamba ne-Edwards syndrome - iimpawu zenziwa ngokuqhelekileyo zibe yinto yokungafezeki komzimba kunye nokwephulwa kwangaphandle. Uhlobo lokuqala lokubonakalisa lubandakanya:
- i-herbinal ingia;
- ziphosakeleyo zentliziyo ;
- ukungabikho kokusana nokugwinya i-reflex;
- i-diverticulum yeMeckel ;
- reflux gastroesophageal;
- i-atresia ye-anus okanye isopopus;
- hypertrophy ye-clitoris;
- ukuphuhliswa kwe-corpus callosum, i-cerebellum;
- cryptorchidism ;
- indawo engafanelekanga emathunjini;
- hypospadias;
- kuphinda kabini
- i-atrophy okanye i-smoothing ye-convolutions ye-cerebral;
- iimpso ezinjengeengqayi;
- ii-ovaries ezingafundiweyo;
- umgudu ophothiweyo;
- i-dystrophy muscular;
- Ubunzima bomzimba obuphantsi (malunga no-2 kg ngexesha lokuzalwa).
Ngaphandle, kwakhona kulula ukubona i-Edwards syndrome - ifoto yezintsana ezine-trisomy 18 zibonisa ubukho beempawu ezilandelayo:
- intloko encinci;
- ukuguquka kwesimo sombuso;
- glottis emfutshane kunye emfutshane;
- iindlebe eziphosakeleyo, ezisezantsi (zoluliwe ngezantsi);
- ukungabikho kwe-lobes, ngamanye amaxesha - i-tragus kunye nendlebe yomlomo;
- esifubeni esifutshane nesesibanzi;
- umhlathi ophantsi ongaphantsi;
- umlomo omncinci, ngokuqhelekileyo unokuvulwa kwintathulo ngenxa yomlomo ophakanyisiweyo ophezulu;
- Ibhuloho ephakanyisiweyo yempumlo;
- "Ukumisa amatye";
- iimbumba phakathi kweminwe okanye ukudibanisa kwazo (izitho ezinjenge-flap);
- i-palate ephakamileyo, ngamanye amaxesha nge-cleft;
- Intamo emfutshane kunye nekhola evelele;
- iifolo ezithandanayo kunye neengqungquthela kwiintendelezo;
- i-hemangiomas kunye neepillilom ekhumbeni;
- i-ptosis yeenkophelo;
- i-strabismus;
- i-occiput kunye nebunzi obuphantsi.
Edwards Syndrome - Ukuxilongwa
Isifo sofuzo esichazwayo sibonakaliso ngqo ngokukhipha isisu. Abantwana abane-syndrome ye-Edwards abayi kuze bakwazi ukuphila ngokugcwele, kwaye impilo yabo iya kuhlahloka ngokukhawuleza. Ngesi sizathu, kubalulekile ukuxilonga i-trisomy 18 ngosuku lokuqala kunokwenzeka. Ukuqaphela le pathology, ukuhlolwa kweenkcukacha ezininzi kuye kwaphuhliswa.
Uhlalutyo lwe-Edwards Syndrome
Kukho iindlela ezingenayo ukungena-invasive kunye nezingavumelekanga zokufunda izinto eziphilayo. Uhlobo lwesibini lweemvavanyo lubhekwa njengolukholo oluthembekileyo kwaye lunokwethenjelwa, lunceda ukuchonga i-Edwards syndrome ebusweni kumaxesha okuqala okuphuhliswa. Ukungena-intshaba ukuhlolwa kwesantya kwegazi lomama. Iindlela zokuxilongwa ezibandakanya ziquka:
- Chorionic villus biopsy. Uphononongo lwenziwe ukususela kwiiveki eziyi-8. Ukwenza uhlalutyo, iqonga lekhefu le-placenta lihluthwe, kuba isakhiwo sayo sondela ngokugqibeleleyo ngokuhambelana nezicubu zesisu.
- Amniocentesis . Ngethuba lokuvavanya, isampuli ye-amniotic fluid ithathwa. Le nkqubo inquma i-Edwards syndrome ukususela kwiveki ye-14 yesigxina.
- Cordocentesis. Uhlalutyo lufuna igazi elincinci legazi lomntwana, ngoko ke le ndlela yokuxilongwa isetyenziswe kuphela kwimini yokugqibela, ukususela kwiiveki ezingama-20.
Ingozi ye-Edwards Syndrome kwi-Biochemistry
Ukuhlolwa kwesisu ngaphambi kokubeletha kwenziwa kwi-trimester yokuqala yokukhulelwa. Umama wesikhathi esizayo kufuneka anikele ngegazi ngexesha leveki le-13 ukuya kwe-13 yesigxina sokuhlalutya kwezinto eziphilayo. Ngokusekelwe kwiziphumo zokugqiba i-chorionic gonadotropin kunye neprotheni ye-plasma A, ingozi ye-Edwards syndrome ebusweni ibalwa. Ukuba iphakamileyo, umfazi uletwa kwiqela elifanelekileyo kwicandelo elilandelayo lophando (ukungena).
I-Edwards syndrome - iimpawu nge-ultrasound
Olu hlobo lokuxilongwa lusetshenziselwa ukuba lusetyenziswe, ngokukodwa kwiimeko xa owesifazane okhulelwe engazange ahlolwe ngokusasaza. I-Edward's syndrome kwi-ultrasound ingabonwa kuphela kwimimiselo kamva, xa umntwana sele esondele ngokupheleleyo. Impawu zesimo se-trisomy 18:
- ukungasebenzi kwe-intrauterine ye-cardiovascular and genitourinary system;
- iimpawu zeemisculoskeli;
- ukukhubazeka kwamathambo enkayi kunye nezicubu ezithambileyo zentloko.
- Imiqondiso engacacanga yesi sifo kwi-ultrasound:
- bradycardia;
- ukulibaziseka ekuphuhlisweni komntwana;
- omnye umzobo kwintambo yomlomo (kufuneka kubekho ezimbini);
- i-hernia kwisigxina esiswini;
- Ukungabikho kwamathambo empumlo.
Edwards Syndrome - unyango
Ulwaphulo lokuguqulwa kwamanzi lujoliswe ekunciphiseni iimpawu zalo kunye nokuququzelela ubomi bomntwana. Uphilise i-Edward's syndrome kwaye uqinisekise ukuba uphuhliso olupheleleyo lomntwana alukwazi. Imisebenzi yezokwelapha eziqhelekileyo zinceda:
- ubuyisele inxalenye yokutya nge-atresia ye-anus okanye isisu;
- ukulungelelanisa ukusondeza ngeprogram ngokuchasene nokungabikho kokusana nokugwinya iingcamango;
- ukuzinzisa ukusetyenziswa kwesimo senhliziyo;
- qinisekisa ukuphuma komchamo.
Isifo sika-Edwards soonyana abasandul 'ukuzalwa sifuna ukusetyenziswa kwezilwanyana ezichasayo, iziza-antibacterial, i-hormonal nezinye iziyobisi ezinamandla. Kubalulekile ukuba unyango olunzulu olufike ngexesha elifanelekileyo lwezifo zonke ezidibeneyo, ezibangela ukuba:
- I-Wilms tumor ;
- i-conjunctivitis;
- pneumonia;
- otitis media;
- yomshukela wegazi;
- sinusitis;
- ukukhulelwa komzimba;
- frontitis;
- uxinzelelo lwegazi kunye nabanye.
I-Edwards Syndrome - isalathiso
Ininzi embryos kunye ne-genetic defal define ifa ngexesha le-gestation ngenxa yokugatywa ngumzimba womntwana ongaphantsi. Emva kokuzalwa, ukubikezela kudidekile. Ukuba i-Edwards syndrome ifunyaniswa, ngaba bangaphi abantwana abanjalo baphila, siya kuqwalasela ngamaphesenti:
- I-60% - engekho ngaphezu kweenyanga ezintathu;
- 7-10% - 1 unyaka;
- malunga ne-1% - ukuya kwi-10 iminyaka.
Kwiimeko ezikhethekileyo (i-trisomy ye-trisomy 18 okanye i-mosaic), iiyunithi zingafumana ukukhula. Kwimeko elolo hlobo, i-syndrome ye-John Edwards ayiyi kuqhubela phambili. Abantwana abadala abanalo le-pathology bahlale be-oligophrenic ngonaphakade. Ubuninzi obuya kufundiswa:
- pha kamisa yakho intloko;
- ncumo;
- ngokuzimela apho;
- ukuqaphela isangqa esinqinqiweyo sabantu.