Ingaba umntwana wakho unengxaki enje? Masithethe nge-Edwards Syndrome okanye iTrisomy 18.

Kwabo balindele ukuba ngumama, okanye abalindele ukuba ilungu elitsha lijoyine usapho lwenu, oku kusenokuvakala ngathi kubuthathaka. Nangona kunjalo, kukho izinto esingathandiyo ukuziva ngamanye amaxesha, kodwa kubaluleke kakhulu ukuzazi. Namhlanje siza kuthetha ngesinye sezi meko. Leyo yi-Edwards Syndrome, ekwaziwa ngokuba yiTrisomy 18, imeko yemfuza enzulu kakhulu.

Yintoni i-Edwards Syndrome?

Ngamafutshane, i-Edwards Syndrome sisifo semfuza esichaphazela kakhulu ukukhula nophuhliso lomntwana . Iintsana ezizelwe nale meko zihlala zizalwa zinobunzima obuphantsi. Zikwanazo neziphene ezahlukeneyo zokuzalwa kunye neempawu ezithile zomzimba. Kuqhelekile ukuba uzive ulusizi kwaye usoyika xa usiva oku. Kodwa masithethe ngokubhekele phaya ngale nto, kulungile?

Ngubani onokuba ne-Edwards Syndrome (Trisomy 18)?

Enyanisweni, i-Edwards Syndrome (Trisomy 18) inokwenzeka kumntwana wanoma ubani . Yenzeka ngokungacwangciswanga, oko kuthetha ukuba ayilindelekanga, xa kufunyenwe ikopi eyongezelelweyo ye-chromosome 18 kwiiseli zomntwana. Nangona kunjalo, kufunyenwe ukuba xa umama emdala, oko kukuthi, ukuba umama uneminyaka engaphezu kwama-35 ubudala ngexesha lokukhulelwa, umngcipheko wokuba nale meko uphezulu . Kodwa khumbula, ukuba umntwana omnye unale meko, amathuba okuba umntwana olandelayo abe nayo aphantsi kakhulu (ngaphantsi kwe-1%).

Ixhaphake kangakanani i-Edwards Syndrome (Trisomy 18)?

Le meko, i-Edwards Syndrome (Trisomy 18), yenzeka malunga nomntwana omnye kwabangama-5,000 ukuya kwabangama-6,000 abazelwe bephila. Nangona kunjalo, ngexesha lokukhulelwa, le meko ixhaphake kancinci, isenzeka malunga nomntwana omnye kwabangama-2,500 abakhulelweyo. Okubuhlungu kukuba, iingxaki ezinxulumene nolu xilongo zihlala zibangela ukuba umntwana alahleke esibelekweni (ukuphuphuma kwesisu) okanye azalwe efile .

Yafunyanwa nini i-Edwards Syndrome (Trisomy 18)?

Le meko, ebizwa ngokuba yi-Edwards syndrome (Trisomy 18), yafunyanwa okokuqala ngo-1960 nguJohn Hilton Edwards kunye neqela lakhe. Bayifumene xa babefunda usana olusandul’ ukuzalwa olwaluneengxaki ezahlukeneyo zokuzalwa kunye neengxaki zophuhliso lwengqondo. Bathi le meko ibangelwe kukongezwa kwekopi yesithathu ye-chromosome 18 (yiyo loo nto ibizwa ngokuba yi-trisomy 18).

Zithini iimpawu ze-Edwards Syndrome (Trisomy 18)?

Iimpawu zomntwana one-Edwards syndrome (Trisomy 18) zihlala zibonakala ngaphambi nasemva kokuzalwa . Iimpawu eziphambili ziquka ukukhula okuncinci kakhulu, iziphene ezininzi zokuzalwa, kunye nokulibaziseka okukhulu kokukhula okanye ukukhubazeka kokufunda .

Iimpawu ezibonakala ngexesha lokukhulelwa

Ugqirha wakho uza kujonga ezi mpawu ngexesha le-ultrasound scans ngexesha lokukhulelwa:

• Zimbalwa kakhulu iintshukumo ze-fetus.
• Intambo yakho yesisu inomthambo omnye kuphela (ngesiqhelo zimbini).
• I-placenta incinci kakhulu.
• Ukubakho kweziphene ezahlukeneyo zokuzalwa.
• Ubuninzi obugqithisileyo bolwelo lwe-amniotic olujikeleze usana lubizwa ngokuba yi-"polyhydramnios".

Nangona ezinye iintsana ezine-Edwards Syndrome zizalwa ziphila, uninzi lwazo luza kuphuma isisu okanye lufe kwiinyanga ezintathu zokuqala zokukhulelwa .

Iimpawu ezibonakala emva kokuzalwa

Emva kokuba umntwana ezelwe, umntwana one-Edwards syndrome (Trisomy 18) unokuba nezi mpawu zilandelayo zomzimba:

• Ukuncipha kwethoni yemisipha (hypotonia) - umntwana uziva ethambile kakhulu.
• Ii-Earlobes zibekwe phantsi kunesiqhelo.
• Izitho zangaphakathi (ezifana nentliziyo nemiphunga) zisenokungakheki kakuhle okanye umsebenzi wazo ungatshintsha.
• Iingxaki zophuhliso lwengqondo (ezidla ngokuba nzima kakhulu ).
• Iinzwane ezibekwe phezu komnye nomnye kunye/okanye iinyawo ezitsalwe kunye (`(iinyawo zeklabhu)`).
• Umzimba, intloko, umlomo, kunye nomhlathi zincinci kakhulu.
• Ukukhala okuphantsi kakhulu kwaye impendulo ephantsi kakhulu kwizandi .

Iimpawu eziqatha ze-Edwards syndrome (iTrisomy 18)

Ngenxa yokuba umzimba womntwana one-Edwards Syndrome (Trisomy 18) awukakhuli ngokupheleleyo, iziphumo ebezingalindelekanga zale meko zimbi kakhulu, zihlala zisongela ubomi . Ezinye zazo ziquka:

• Isifo sentliziyo esizalwa naso kunye nesifo sezintso.
• Ukuphazamiseka kokuphefumla (ukungasebenzi kakuhle kokuphefumla).
• Iingxaki kunye neziphene zokuzalwa kwenkqubo yokugaya ukutya (`(Indlela yokugaya ukutya)`) kunye nodonga lwesisu.
• IiHernias (`(IiHernias)`).
• I-Scoliosis.

Khawucinge ngoku: Malunga nama-90% eentsana ezine-Edwards Syndrome (Trisomy 18) zinesifo sentliziyo. Esi sesona sizathu siphambili sokufa kwangethuba kwezi ntsana, emva kokungasebenzi kakuhle kokuphefumla.

Yintoni ebangela i-Edwards Syndrome (Trisomy 18)?

Ngamafutshane, i-Edwards syndrome (iTrisomy 18) ibangelwa kukubakho kweekopi ezintathu ze-chromosome 18 endaweni yeekopi ezimbini eziqhelekileyo .

Ngoku, khangela, sonke sinee-chromosome ezingama-46 emizimbeni yethu, ezahlulwe zibe zii-23. Ezi chromosome ziqulathe i-DNA yethu (imiyalelo efunekayo emzimbeni wethu ukuze ukhule kwaye usebenze). Sifumana iseti enye yezi chromosome kumama wethu kwaye enye ifumaneke kubaba wethu.

Xa iiseli zenziwe, ziqala njengezisele ezivundisiweyo kwizitho zokuzala (isidoda emadodeni, amaqanda kwabasetyhini). Ezi seli ziyahlukana (ngenkqubo ebizwa ngokuba yi-"meiosis") kwaye zizikopishe ukuze zenze izibini. Iseli ephumayo inesiqingatha senani le-DNA njengeseli yokuqala, oko kukuthi, ii-23 kwii-chromosomes ezingama-46. Isibini ngasinye see-chromosomes sinenombolo.

Xa ezi zibini zechromosome kufuneka zahlukane ngexesha lokwenziwa kwamaqanda kunye nesidoda, ngamanye amaxesha isibini sechromosome asihlukani kakuhle (njengento enamathelayo), kwaye zombini ezi kopi ziphelela kwiqanda okanye isidoda esinye. Emva koko, ekukhulelweni, zidibana nekopi enye evela komnye umzali, zenze iikopi ezintathu zizonke . Olu hlobo lokungafani kwechromosome alunakwenzeka, alunakuqikelelwa, kwaye alubangelwa yinto eyenziwa ngabazali ngaphambili okanye ngexesha lokukhulelwa .

Xa kongezwa ikopi yesithathu yesibini se-chromosome, ibizwa ngokuba yi-trisomy. I-Trisomy ithetha into efana "nemizimba emithathu." Umntu one-Edwards Syndrome unekopi yesithathu ye-chromosome 18 kwiiseli zakhe.

Ifunyanwa njani i-Edwards Syndrome (Trisomy 18)?

Ukuhlolwa kwe-Edwards Syndrome (Trisomy 18) kudla ngokuqala ngexesha lokukhulelwa . Ukuxilongwa kuqinisekiswa ngaphambi okanye emva kokuba umntwana ezelwe. Ugqirha wakho uya kwenza i-ultrasound scan ukujonga iimpawu ze-Edwards Syndrome (Trisomy 18) ngokujonga intshukumo yomntwana, ubungakanani bolwelo lwe-amniotic, kunye nobukhulu be-placenta. Ukuba kufunyenwe iimpawu zesi sifo semfuza, ugqirha wakho uya kucebisa uvavanyo olongezelelweyo ukuqinisekisa ukuxilongwa.

Zeziphi iimvavanyo ezisetyenziswayo ukuxilonga i-Edwards Syndrome (Trisomy 18)?

Ngexesha lokukhulelwa, ukuba umntwana ubonisa iimpawu ze-Edwards Syndrome (Trisomy 18), ugqirha unokucebisa iimvavanyo ezahlukeneyo ukuqinisekisa ukuxilongwa, ezifana nezi:

• I-Amniocentesis : Phakathi kweeveki ezili-15 ukuya kwezingama-20 zokukhulelwa, ugqirha wakho uza kuthatha isampuli encinci yolwelo lwe-amniotic aze ayivavanye ukuze aqinisekise impilo yomntwana wakho.
• Isampuli yeChorionic villus (CVS) : Phakathi kweeveki ezili-10 ukuya kwezili-13 zokukhulelwa, ugqirha wakho uthatha isampuli encinci yeeseli kwi-placenta aze azivavanye ukuze ajonge iimeko zemfuza.
• Uvavanyo : Emva kweeveki ezili-10 zokukhulelwa, isampulu yegazi lakho inokuvavanywa ukuze kubonwe ukuba umntwana wakho uneengxaki ze-chromosome ezongezelelweyo, ezifana ne-trisomy 18.

Emva kokuba umntwana ezelwe, ugqirha uza kuhlola intliziyo yomntwana nge-ultrasound scan, achonge naziphi na iingxaki zentliziyo ezinokuba zibangelwe lolu xilongo, aze athathe amanyathelo okuzinyanga.

Inyangwa njani i-Edwards Syndrome (Trisomy 18)?

Kwiimeko ezininzi, le meko inzima kangangokuba iintsana ezizalwa ziphila zinikwa unyango oluthuthuzelayo.Oko kuthetha ukunceda umntwana ukuba akhululeke kwaye angabi nantlungu. Nangona kunjalo, unyango lwe-Edwards Syndrome (Trisomy 18) lwahlukile kumntwana ngamnye, kuxhomekeke kubukhali bokuxilongwa . Akukho nyango lwe-Edwards Syndrome (Trisomy 18) .

Unyango lwe-Edwards syndrome (Trisomy 18) lungabandakanya:

• Unyango lwesifo sentliziyo : Phantse zonke iintsana ezine-Edwards syndrome (Trisomy 18) zichaphazeleka sisifo sentliziyo. Nangona kungengabo bonke abantwana abanotyando, abanye banako.
• Inkxaso yokondla : Iintsana ezine-Edwards syndrome (Trisomy 18) zinokuba nobunzima bokutya ngendlela eqhelekileyo ngenxa yokulibaziseka kokukhula. Zisenokufuna ukondliwa ngetyhubhu yokondla ukuze zincede kwiingxaki zokutya kwasebuntwaneni.
• Unyango lwamathambo : Iintsana ezine-Edwards syndrome (Trisomy 18) zinokuba neengxaki zomqolo, ezifana ne-scoliosis. Ezi zinokuchaphazela intshukumo yomntwana. Unyango lwamathambo lungabandakanya ukuxhonywa okanye utyando.
• Inkxaso yengqondo neyoluntu : Ukuba nomntwana one-Edwards Syndrome (Trisomy 18) kufuna inkxaso kuwe, kusapho lwakho, nakumntwana wakho. Uza kufuna inkxaso ukuze ukwazi ukumelana nentlungu yokulahlekelwa ngumntwana wakho, ingakumbi ukuba ulahlekelwa ngumntwana wakho, okanye ukuze ukwazi ukumelana nokuxilongwa okuntsonkothileyo komntwana wakho.

Ndingayinciphisa njani ingozi yokuba umntwana wam abe ne-Edwards Syndrome (Trisomy 18)?

Ekubeni i-Edwards syndrome (Trisomy 18) ngokwenene ibangelwa kukuguquka kwezakhi zofuzo, akukho ndlela yokuthintela le meko . Nangona kunjalo, ukuba uyafaneleka uvavanyo lwezakhi zofuzo kunye novavanyo lwe-embryo (uvavanyo lwezakhi zofuzo ngaphambi kokumiliselwa) nge-in vitro fertilization (IVF), unganciphisa kakhulu amathuba okuba nomntwana one-Edwards syndrome (Trisomy 18). Ukuba uceba ukukhulelwa, thetha nogqirha wakho malunga neengcebiso zezakhi zofuzo ukuze ufunde ngomngcipheko wokuba nomntwana onesimo sezakhi zofuzo.

Kwenzeka ntoni ukuba unomntwana one-Edwards Syndrome (Trisomy 18)?

Akukho nyango lwe-Edwards Syndrome (Trisomy 18). Uninzi lokukhulelwa luphela ngokuphuphuma kwesisu okanye ukuzalwa komntwana oswelekileyo . Kubantwana abakhulelweyo abaphila de kube yi-trimester yesithathu, malunga nama-40% eentsana ezine-Edwards Syndrome (Trisomy 18) aziphili zizalwa, kwaye malunga nesinye kwisithathu sabo baphila zizalwa ngaphambi kwexesha.

Izinga lokusinda kweentsana ezizelwe zine-Edwards Syndrome (Trisomy 18) lilandelayo:

• Phakathi kwama-60% nama-75% bayasinda kwiveki yokuqala.
• Phakathi kwama-20% nama-40% bayasinda kwinyanga yokuqala.
• Ngaphezulu kwe-10% abayibhiyozeli imihla yabo yokuqala yokuzalwa.

Iintsana ezizelwe zine-Edwards Syndrome (Trisomy 18) zifuna unyango olukhethekileyo emva nje kokuzalwa, oluhambelana neempawu zazo ezithile.Amathuba okusinda aphantsi kakhulu, ingakumbi ukuba umntwana uphuhlise amalungu omzimba okanye uneengxaki zentliziyo ezizalwa nazo. Kwi-10% yabantu abasindayo kusuku lwabo lokuzalwa lokuqala, abanye abantwana baphila ubomi obanelisayo ngenkxaso enkulu evela kusapho lwabo nakubanakekeli babo. Kodwa bahlala bengafundi ukuhamba okanye ukuthetha.

Ndifanele ndimbone nini ugqirha?

Xa umntwana one-Edwards syndrome (Trisomy 18) esesibelekweni, kukho umngcipheko wokuphuma kwesisu okanye ukulahlekelwa sisisu. Ukuba ukhulelwe, bona ugqirha ngokukhawuleza ukuba uneempawu zokuphuma kwesisu :

• Isisu esibuhlungu.
• Ukuba uziva ubanda kwaye unomkhuhlane.
• Umqolo obuhlungu.
• Ukuba wopha kakhulu kunesiqhelo (ukopha kakhulu).
• Intlungu yesisu esisezantsi.

Ndingaya nini kwigumbi likaxakeka?

Ukuba umntwana wakho ozelwe ene-Edwards Syndrome (Trisomy 18) unezinye zezi mpawu, mse kwigumbi likaxakeka ngokukhawuleza, okanye utsalele umnxeba ku-1990 :

• Ukuba uphefumla ngokukhawuleza kakhulu okanye kancinci kakhulu, okanye awuphefumli kwaphela.
• Ukuba ulusu okanye imilebe ijika ibe luhlaza okwesibhakabhaka okanye ibe mfusa.
• Ukuba ukubetha kwentliziyo kukhawuleza kakhulu.
• Ukuba kunzima ukutya.
• Ukuba umzimba wonke uvuvukile.

Ndingayibuza yiphi imibuzo ugqirha wam?

Kwimeko enjalo, usenokuba nemibuzo emininzi. Buza ugqirha wakho ngezinto ezifana nezi:

• "Zithini iingozi zokuba nomntwana onesimo semfuza?"
• "Luluphi unyango olunokunikwa iimpawu zomntwana wam?"
• "Ndingenza ntoni ukuqinisekisa ukuba umntwana wam usempilweni ngexesha lokukhulelwa?"

Ukuxilongwa kwe-Edwards Syndrome (Trisomy 18) kunokuba nzima kakhulu. Iingxaki ezihambisana nale meko zinokuba nzima kakhulu. Ugqirha wakho uza kukunceda wena nosapho lwakho kulo lonke olu hambo , nokuba kukujongana nokuxilongwa komntwana wakho okanye ukumelana nokulahlekelwa ngumntwana wakho. Ukuba uceba ukukhulelwa, thetha nogqirha wakho malunga neengcebiso zemfuza ukuze ufunde ngomngcipheko wokuba nomntwana onesifo semfuza.

Izinto ezibalulekileyo ekufuneka uzikhumbule (Umyalezo Wokuya Ekhaya)

Kulungile, ngoko ke, mandishwankathele ezinye zezinto esithethe ngazo endicinga ukuba ziya kuba zibalulekile kuwe:

• I-Edwards Syndrome, okanye iTrisomy 18, yimeko enzima yemfuza .
• Oku kubangelwa yikopi eyongezelelweyo ye-chromosome 18. Oku kwenzeka ngengozi, akuyongxaki yabazali.
• Oku kunokubonwa ngeeskeni kunye nezinye iimvavanyo ezikhethekileyo (`(Amniocentesis)`, `(CVS)`) ezenziwa ngexesha lokukhulelwa.
• Akukho nyango lwale meko, unyango lujolise ekulawuleni iimpawu nokwenza umntwana azive ekhululekile.
• Iintsana ezininzi aziphili ixesha elide , kodwa abanye abantwana baphila ngothando nenkxaso yeentsapho zabo.
• Ukuba ukhulelwe kwayeUkuba ubonisa iimpawu zokuphuphuma kwesisu, funa ingcebiso kagqirha ngokukhawuleza.
• Ukuba ufunyaniswe unale meko, awuwedwa . Fumana uncedo koogqirha, kusapho nakwiinkonzo zokunika iingcebiso.

Ndiyathemba ukuba olu lwazi luza kukunceda. Kunzima ukuthetha ngezihloko ezibuthathaka kangaka, kodwa kufanelekile ukuba uqaphele.

I- Edwards Syndrome, iTrisomy 18, Izifo zeMfuzo, iiChromosomes, ukukhulelwa, Impilo yosana, Iziphene zokuzalwa