Ingabe ingane yakho inalesi simo? Ake sixoxe nge-Edwards Syndrome noma i-Trisomy 18.

Kulabo kini abalindele ukuba ngumama, noma abalindele ilungu elisha ukuthi lijoyine umndeni wenu, lokhu kungase kuzwakale kubucayi kancane. Kodwa-ke, kunezinto ezithile esingathandi ukuzizwa ngezinye izikhathi, kodwa okubaluleke kakhulu ukuzazi. Namuhla sizokhuluma ngesinye salezi zimo. Leso yi-Edwards Syndrome, eyaziwa nangokuthi i-Trisomy 18, isimo esibi kakhulu sezakhi zofuzo.

Iyini i-Edwards Syndrome?

Kalula nje, i-Edwards Syndrome yisimo sofuzo esithinta kakhulu ukukhula nokukhula komntwana . Izingane ezizalwa nalesi simo zivame ukuzalwa zinesisindo esiphansi sokuzalwa. Ziphinde zibe nezinkinga eziningana zokuzalwa kanye nezici ezithile zomzimba. Kuvamile ukuzizwa udangele futhi wesaba uma uzwa lokhu. Kodwa ake sixoxe ngalokhu kabanzi, kulungile?

Ubani ongaba ne-Edwards Syndrome (Trisomy 18)?

Eqinisweni, i-Edwards Syndrome (Trisomy 18) ingenzeka enganeni yanoma ubani . Kwenzeka ngokungahleliwe, okusho ukuthi akubikezelwa, lapho kutholakala ikhophi eyengeziwe ye-chromosome 18 emaseli engane. Kodwa-ke, kutholakale ukuthi uma umama emdala, okungukuthi, uma umama eneminyaka engaphezu kwengu-35 ngesikhathi sokukhulelwa, kulapho ingozi yalesi simo iphakama khona . Kodwa khumbula, uma ingane eyodwa inalesi simo, amathuba okuba ingane elandelayo ibe naso aphansi kakhulu (ngaphansi kuka-1%).

Ivame kangakanani i-Edwards Syndrome (Trisomy 18)?

Lesi simo, i-Edwards Syndrome (Trisomy 18), senzeka cishe koyedwa kwabangu-5,000 kuya kwabangu-6,000 abazalwa bephila. Kodwa-ke, ngesikhathi sokukhulelwa, lesi simo sivame kakhulu, senzeka cishe koyedwa kwabangu-2,500 abakhulelwe. Ngokudabukisayo, izinkinga ezihlobene nalokhu kutholakala kwesifo zivame ukuholela ekuphuphumeni kwesisu (ukuphuphuma kwesisu) noma ukuzalwa kwengane isishonile .

Yatholakala nini i-Edwards Syndrome (Trisomy 18)?

Lesi simo, esibizwa ngokuthi i-Edwards syndrome (Trisomy 18), saqala ukutholwa ngo-1960 nguJohn Hilton Edwards nethimba lakhe. Basithole ngesikhathi behlola ingane esanda kuzalwa eyayinezinkinga ezahlukene zokuzalwa nezinkinga zokukhula kwengqondo. Bathi lesi simo sibangelwe ukwengezwa kwekhophi yesithathu ye-chromosome 18 (yingakho ibizwa ngokuthi i-trisomy 18).

Ziyini izimpawu ze-Edwards Syndrome (Trisomy 18)?

Izimpawu zengane ene-Edwards syndrome (Trisomy 18) zivame ukubonakala ngaphambi nangemva kokuzalwa . Izimpawu eziyinhloko zifaka phakathi ukukhula okuphansi kakhulu, ukukhubazeka okuningi kokuzalwa, kanye nokubambezeleka okukhulu kokukhula noma ukukhubazeka kokufunda .

Izimpawu ezibonakala ngesikhathi sokukhulelwa

Udokotela wakho uzobheka lezi zici ngesikhathi sokuhlolwa kwe-ultrasound ngesikhathi sokukhulelwa:

• Ukunyakaza okuncane kakhulu kwengane.
• Intambo yakho yenkaba inomthambo owodwa kuphela (ngokuvamile ungaba mibili).
• I-placenta incane kakhulu.
• Ukuba khona kwezinkinga ezahlukene zokuzalwa.
• Inani elikhulu kakhulu loketshezi lwe-amniotic oluzungeze umbungu libizwa ngokuthi "i-polyhydramnios".

Nakuba ezinye izingane ezine-Edwards Syndrome zizalwa ziphila, ngokuvamile zizophuphuma isisu noma zife ezinyangeni ezintathu zokuqala zokukhulelwa .

Izimpawu ezibonakala ngemva kokuzalwa

Ngemva kokuzalwa komntwana, umntwana one-Edwards syndrome (Trisomy 18) angaba nezici ezilandelayo zomzimba:

• Ukuncipha kwethoni yemisipha (hypotonia) - umntwana uzizwa ethambile kakhulu.
• Ama-Earlobes abekwe ngaphansi kunokujwayelekile.
• Izitho zangaphakathi (njengenhliziyo namaphaphu) zingase zingakheki kahle noma umsebenzi wazo ungashintsha.
• Izinkinga zokuthuthukiswa kwengqondo (ngokuvamile zinzima kakhulu ).
• Izinzwane ezibekwe phezu komunye nomunye kanye/noma izinyawo ezidonswe ndawonye (`(izinyawo ze-club)`).
• Umzimba, ikhanda, umlomo, kanye nomhlathi kuncane kakhulu.
• Ukukhala okuphansi kakhulu kanye nokusabela okuphansi kakhulu emisindweni .

Izimpawu ezibucayi ze-Edwards syndrome (i-Trisomy 18)

Ngenxa yokuthi umzimba womntwana one-Edwards Syndrome (Trisomy 18) awukakhuli ngokugcwele, imiphumela emibi yalesi simo imbi kakhulu, ivame ukusongela impilo . Eminye yayo ihlanganisa:

• Isifo senhliziyo esizalwa naso kanye nesifo sezinso.
• Ukuphazamiseka kokuphefumula (ukwehluleka kokuphefumula).
• Izinkinga kanye nokukhubazeka kokuzalwa kohlelo lokugaya ukudla (`(Umgudu wesisu)`) kanye nodonga lwesisu.
• Ama-Hernia (`(ama-Hernia)`).
• I-Scoliosis.

Cabanga ngalokhu: Cishe ama-90% ezinsana ezine-Edwards Syndrome (Trisomy 18) anesifo senhliziyo. Lesi yisona sizathu esiyinhloko sokufa ngaphambi kwesikhathi kulezi zingane, ngemva kokwehluleka ukuphefumula.

Yini ebangela i-Edwards Syndrome (Trisomy 18)?

Kalula nje, i-Edwards syndrome (i-Trisomy 18) ibangelwa ukuba khona kwamakhophi amathathu e-chromosome 18 esikhundleni se-ejwayelekile ezimbili .

Manje, bheka, sonke sinama-chromosome angu-46 emizimbeni yethu, ahlukaniswe ngamabhangqa angu-23. La ma-chromosome aqukethe i-DNA yethu (imiyalelo umzimba wethu oyidingayo ukuze ukhule futhi usebenze). Sithola isethi eyodwa yala ma-chromosome kumama wethu kanti enye kubaba wethu.

Uma kwakheka amaseli, aqala njengamaseli avundisiwe ezithweni zokuzala (isidoda kwabesilisa, amaqanda kwabesifazane). Lawa maseli ayahlukana (ngenqubo ebizwa ngokuthi "i-meiosis") bese ezikopisha ukuze enze amabhangqa. Iseli eliphumayo linengxenye yenani le-DNA njengeseli lokuqala, okungukuthi, ama-chromosome angu-23 kwangu-46. I-chromosome ngayinye inenombolo.

Uma la ma-chromosome amabili kufanele ahlukane ngesikhathi kwakheka amaqanda nesidoda, ngezinye izikhathi ama-chromosome amabili awahlukani kahle (njengento enamathelayo), futhi womabili amakhophi agcina eqandeni noma esidoda esifanayo. Bese kuthi lapho kukhulelwa, ahlangane nekhophi eyodwa komunye umzali, okwenza amakhophi amathathu . Lolu hlobo lokungafani kwama-chromosome aluhlelekile, alubikezeleki, futhi alubangelwa yinoma yini abazali abayenzile ngaphambili noma ngesikhathi sokukhulelwa .

Uma kufakwa ikhophi yesithathu yepheya le-chromosome, ibizwa ngokuthi i-trisomy. I-Trisomy isho into efana "nemizimba emithathu." Umuntu one-Edwards Syndrome unekhophi yesithathu ye-chromosome 18 emaseli akhe.

Itholakala kanjani i-Edwards Syndrome (Trisomy 18)?

Ukuhlolwa kwe-Edwards Syndrome (Trisomy 18) kuvame ukuqala ngesikhathi sokukhulelwa . Ukuxilongwa kuqinisekiswa ngaphambi noma ngemva kokuzalwa komntwana. Udokotela wakho uvame ukwenza i-ultrasound scan ukuze abheke izimpawu ze-Edwards Syndrome (Trisomy 18) ngokubheka ukunyakaza komntwana, inani le-amniotic fluid, kanye nosayizi we-placenta. Uma kutholakala izimpawu zalesi simo sofuzo, udokotela wakho uzoncoma ukuhlolwa okwengeziwe ukuqinisekisa ukuxilongwa.

Yiziphi izivivinyo ezisetshenziswa ukuxilonga i-Edwards Syndrome (Trisomy 18)?

Ngesikhathi sokukhulelwa, uma ingane ibonisa izimpawu ze-Edwards Syndrome (Trisomy 18), udokotela angase asikisele ukuhlolwa okuhlukahlukene ukuqinisekisa ukuxilongwa, okufana nalokhu:

• I-Amniocentesis : Phakathi kwamasonto angu-15 kuya kwangu-20 okukhulelwa, udokotela wakho uzothatha isampula encane yoketshezi lwe-amniotic bese eluhlola ukuze athole impilo yengane yakho.
• Ukuhlolwa kwe-Chorionic villus (CVS) : Phakathi kwamasonto ayi-10 kuya kwangu-13 okukhulelwa, udokotela wakho uthatha isampula encane yamaseli avela ku-placenta bese ewahlola ukuze abheke izimo zofuzo.
• Ukuhlolwa : Ngemva kwamasonto ayi-10 okukhulelwa, isampula yegazi lakho lingahlolwa ukuze kubonakale ukuthi ingane yakho inezinkinga ezivamile ze-chromosome eyengeziwe, njenge-trisomy 18.

Ngemva kokuzalwa komntwana, udokotela uzohlola inhliziyo yomntwana nge-ultrasound scan, athole noma yiziphi izinkinga zenhliziyo okungenzeka ukuthi zibangelwe yilokhu kuxilongwa, bese ethatha izinyathelo zokuzelapha.

Iphathwa kanjani i-Edwards Syndrome (Trisomy 18)?

Ezimweni eziningi, lesi simo sibi kakhulu kangangokuthi izingane ezizalwa ziphila zinikezwa ukunakekelwa okududuzayo.Lokho kusho ukusiza ingane ukuthi ikhululeke futhi ingabi nobuhlungu. Kodwa-ke, ukwelashwa kwe-Edwards Syndrome (Trisomy 18) kuhlukile kumntwana ngamunye, kuye ngokuthi ukuxilongwa kubucayi kangakanani . Ayikho ikhambi le-Edwards Syndrome (Trisomy 18) .

Ukwelashwa kwe-Edwards syndrome (Trisomy 18) kungafaka:

• Ukwelashwa kwesifo senhliziyo : Cishe zonke izingane ezine-Edwards syndrome (Trisomy 18) zithinteka yisifo senhliziyo. Nakuba kungezona zonke izingane ezingahlinzwa, ezinye zingakwenza lokho.
• Ukusekelwa kokondla : Izinsana ezine-Edwards syndrome (Trisomy 18) zingase zibe nobunzima bokudla ngendlela evamile ngenxa yokubambezeleka kokukhula. Kungase kudingeke zondliwe ngepayipi yokondla ukuze zisize ngezinkinga zokondla zisencane.
• Ukwelashwa Kwamathambo : Izingane ezine-Edwards syndrome (Trisomy 18) zingase zibe nezinkinga zomhlane, njenge-scoliosis. Lokhu kungathinta ukunyakaza komntwana. Ukwelashwa kwamathambo kungafaka phakathi ukufakelwa izinsimbi noma ukuhlinzwa.
• Ukusekelwa ngokwengqondo nangokwenhlalo : Ukuba nomntwana one-Edwards Syndrome (Trisomy 18) kudinga ukwesekwa kuwe, emndenini wakho, kanye nomntwana wakho. Uzodinga ukwesekwa ukuze ubhekane nosizi lokulahlekelwa ingane yakho, ikakhulukazi uma ulahlekelwa ingane yakho, noma ukuze ubhekane nokuxilongwa okuyinkimbinkimbi kwengane yakho.

Ngingayinciphisa kanjani ingozi yokuba ingane yami ibe ne-Edwards Syndrome (Trisomy 18)?

Njengoba i-Edwards syndrome (Trisomy 18) empeleni ingumphumela wokuguquka kwezakhi zofuzo, ayikho indlela yokuvimbela lesi simo . Kodwa-ke, uma ufaneleka ukuhlolwa kwezakhi zofuzo kanye nokuhlolwa kwe-embryo (ukuhlolwa kwezakhi zofuzo ngaphambi kokutshalwa) ngokufakwa kwe-in vitro fertilization (IVF), unganciphisa kakhulu amathuba okuba nomntwana one-Edwards syndrome (Trisomy 18). Uma uhlela ukukhulelwa, khuluma nodokotela wakho mayelana nokwelulekwa kwezakhi zofuzo ukuze ufunde ngengozi yokuba nomntwana onesimo sezakhi zofuzo.

Kwenzekani uma unengane ene-Edwards Syndrome (Trisomy 18)?

Ayikho ikhambi le-Edwards Syndrome (Trisomy 18). Ukukhulelwa okuningi kugcina ngokuphuphuma kwesisu noma ukuzalwa kwengane isishonile . Kokukhulelwa okusindayo kuze kube yi-trimester yesithathu, cishe u-40% wezingane ezine-Edwards Syndrome (Trisomy 18) azisindi zizalwa, futhi cishe ingxenye eyodwa kwezintathu yalabo abasindayo bazalwa ngaphambi kwesikhathi.

Izinga lokusinda kwezingane ezizalwa zine-Edwards Syndrome (Trisomy 18) limi kanje:

• Phakathi kuka-60% no-75% bayasinda ngesonto lokuqala.
• Phakathi kuka-20% no-40% bayasinda enyangeni yokuqala.
• Abangaphezu kuka-10% abagubhi usuku lwabo lokuzalwa lokuqala.

Izingane ezizalwa zine-Edwards Syndrome (Trisomy 18) zidinga ukunakekelwa okukhethekile ngokushesha ngemva kokuzalwa, okuhloswe ngokwezimpawu zazo ezithile.. Amathuba okusinda mancane kakhulu, ikakhulukazi uma ingane ibambezelekile ekukhuleni kwezitho noma inesici senhliziyo esizalwa naso. Ku-10% abasinda ngosuku lwabo lokuzalwa lokuqala, abanye abantwana baphila impilo eyanelisayo ngokusekelwa okukhulu okuvela emindenini yabo nakubanakekeli. Kodwa ngokuvamile abakaze bafunde ukuhamba noma ukukhuluma.

Kufanele ngimbone nini udokotela?

Uma ingane ene-Edwards syndrome (Trisomy 18) isesibelethweni, kunengozi yokuphuphuma kwesisu noma ukulahlekelwa ukukhulelwa. Uma ukhulelwe, bona udokotela ngokushesha uma unezimpawu zokuphuphuma kwesisu :

• Isisu esibuhlungu.
• Uma uzizwa ubanda futhi unomkhuhlane.
• Ukuhlungu obusemhlane.
• Uma ukopha kakhulu kunokujwayelekile (ukopha okukhulu).
• Ubuhlungu besisu esingezansi.

Kufanele ngiye nini egumbini lezimo eziphuthumayo?

Uma ingane yakho ezelwe ne-Edwards Syndrome (Trisomy 18) inanoma yiziphi zalezi zimpawu, yiyise ekamelweni eliphuthumayo ngokushesha, noma ushayele u-1990 :

• Uma uphefumula ngokushesha kakhulu noma kancane kakhulu, noma ungaphefumuli nhlobo.
• Uma isikhumba noma izindebe ziphenduka zibe luhlaza okwesibhakabhaka noma zibe nsomi.
• Uma ukushaya kwenhliziyo kushesha kakhulu.
• Uma kunzima ukudla.
• Uma umzimba wonke uvuvukele.

Yimiphi imibuzo okufanele ngiyibuze udokotela wami?

Kulesi simo, ungase ube nemibuzo eminingi. Buza udokotela wakho ngezinto ezifana nalezi:

• "Ziyini izingozi zami zokuba nengane enesifo sofuzo?"
• "Yiziphi izindlela zokwelapha ezinganikezwa izimpawu zomntwana wami?"
• "Yini engingayenza ukuqinisekisa ukuthi ingane yami iphilile ngesikhathi sokukhulelwa?"

Ukuxilongwa kwe-Edwards Syndrome (Trisomy 18) kungaba nzima kakhulu. Izinkinga ezihambisana nalesi simo zingaba nzima kakhulu. Udokotela wakho uzokusiza wena nomndeni wakho kulolu hambo , kungakhathaliseki ukuthi ukubhekana nokuxilongwa kwengane yakho noma ukubhekana nokulahlekelwa ingane yakho. Uma uhlela ukukhulelwa, khuluma nodokotela wakho mayelana nokwelulekwa ngofuzo ukuze ufunde ngengozi yakho yokuba nomntwana onesimo sofuzo.

Izinto ezibaluleke kakhulu okufanele uzikhumbule (Umyalezo Wokuya Ekhaya)

Kulungile, ake ngifingqe ezinye zezinto esikhulume ngazo engicabanga ukuthi zizoba zibalulekile kuwe:

• I-Edwards Syndrome, noma i-Trisomy 18, iyisifo esibi kakhulu esibangelwa izakhi zofuzo .
• Lokhu kubangelwa ikhophi eyengeziwe ye-chromosome 18. Lokhu kwenzeka ngengozi, akulona iphutha labazali.
• Lokhu kungatholakala ngokusebenzisa amaskeni kanye nezinye izivivinyo ezikhethekile (`(Amniocentesis)`, `(CVS)`) ezenziwa ngesikhathi sokukhulelwa.
• Akukho ukwelashwa kwalesi simo, ukwelashwa kuhloselwe ukulawula izimpawu nokwenza umntwana azizwe ekhululekile.
• Izinsana eziningi aziphili isikhathi eside , kodwa ezinye izingane ziphila ngothando nokusekelwa yimindeni yazo.
• Uma ukhulelwe futhiUma ubonisa izimpawu zokuphuphuma kwesisu, funa iseluleko sikadokotela ngokushesha.
• Uma uke watholakala unalesi simo, awuwedwa . Thola usizo kodokotela, emndenini, kanye nasezinsizakalweni zokweluleka.

Ngiyethemba ukuthi lolu lwazi luzokusiza. Kunzima ukukhuluma ngezihloko ezibucayi kangaka, kodwa kuyafaneleka ukuzazi.

I- Edwards Syndrome, i-Trisomy 18, Izifo Zofuzo, Ama-Chromosomes, Ukukhulelwa, Impilo Yomntwana, Amaphutha Okuzalwa