Ngaba ukhathazekile kancinci ngemfuza yomntwana wakho? Masithethe ngeTrisomy!

Usenokuba ukhe weva igama elithi "Trisomy" okanye ugqirha wakho usenokuba ulikhankanyile. Kuqhelekile ukuba uzive usoyika kwaye unomdla xa usiva oku. Yintoni i-trisomy? Kutheni isenzeka? Iza kumchaphazela njani umntwana? Masithethe ngayo yonke into ngendlela elula onokuyiqonda.

Yintoni iTrisomy? Ngamazwi alula...

Khawuthelekelele ukuba umzimba wethu wenziwe zizigidi zeeseli ezincinci. Ngaphakathi kwiseli nganye, kukho indawo efana neziko lolawulo lwaloo seli, esiyibiza ngokuba yinucleus . Ngaphakathi kuloo nucleus kukho izinto ezibizwa ngokuba yi -'Chromosomes' . Ezi zifana neencwadi. Yonke into emalunga nomzimba wethu, yonke into esenza sahluke kwabanye (njengokuphakama, umbala, umbala weenwele, umbala wamehlo) ibhalwe kwezi ncwadi zibizwa ngokuba yi-'chromosomes'. Olu lwazi yiloo nto siyibiza ngokuba yi-'DNA' .

Ngokwesiqhelo, iseli nganye emntwini ophilileyo inezibini ezingama-23 zezi chromosomes. Ezo zizonke ziichromosomes ezingama-46. Isiqingatha sazo, ezingama-23, sivela kumama wethu, kwaye esinye isiqingatha, ezingama-23, sivela kubaba wethu.

Ngoku, nantsi into ethethwa li -trisomy : Ngamanye amaxesha, ukongeza kwenye yezo zibini ze-chromosome, kongezwa i-chromosome eyongezelelweyo. Emva koko inani lilonke lee-chromosomes liba ngama-47 endaweni yama-46. Igama elithi "Tri" lithetha ezintathu, kwaye elithi "somy" lithetha into efana nomzimba. Ngoko ke, i-trisomy kukuba nee-chromosomes ezintathu apho kufanele kubekho ezimbini.

Nangona umntwana one-chromosome eyongezelelweyo enokuzalwa ixesha elizeleyo, ngamanye amaxesha inokubangela ukuphuphuma kwesisu kwiinyanga ezintathu zokuqala zokukhulelwa.

Ziziphi iintlobo eziphambili ze-trisomy?

Oogqirha baxilonga le meko ye-trisomy ngokusekwe kwi-chromosome pair ekuyo i-chromosome eyongezelelweyo. Ngenxa yokuba i-chromosome pair nganye inendima ethile emzimbeni wethu, imeko yemfuza yomntwana iya kwahluka ngokuxhomekeke apho kongezwa khona i-chromosome eyongezelelweyo.

Iimeko eziqhelekileyo ze-trisomy zezi:

• I-Trisomy 21 : Le yimeko esiyaziyo sonke njenge- Down syndrome . Kukho i-chromosome eyongezelelweyo kwisibini se-chromosome yama-21.
• I-Trisomy 18 : Le ikwabizwa ngokuba yi -Edward syndrome .
• I-Trisomy 13 : Oku kubizwa ngokuba yiPatau syndrome .

Ngokufanayo, isibini sama-23 see-chromosomes kwi-genetic makeup yethu simisela isini sethu. Ezi zibizwa ngokuba yi-'XX' kwibhinqa kunye ne-'XY' kwindoda. Xa iiseli zahlukana, iingxaki kwezi chromosomes zesini nazo zinokwenzeka, nto leyo ekhokelela kwi-trisomies. Imizekelo yezi yile:

• I-Trisomy X (`iTrisomy X` okanye `XXX`)
• Isifo seKlinefelter (`isifo seKlinefelter` okanye `XXY`)
• Isifo sikaJacob (`isifo sikaJacob` okanye `iXYY`)

Ngubani onokuthi achatshazelwe kakhulu yile meko ye-trisomy?

Enyanisweni, i-trisomy inokwenzeka nakweyiphi na inqanaba lokukhulelwa. Nangona kunjalo, kufunyenwe ukuba umngcipheko uphezulu kancinci xa abafazi abangaphezu kweminyaka engama-35 bekhulelwa . Nangona kunjalo, ngokumangalisayo, uninzi lweentsana ezizalwa zine-trisomy zizalwa ngabazali abangaphantsi kweminyaka engama-35. Oku kungenxa yokuba, ngokwezibalo, iintsana ezininzi zizalwa ngabantu abangaphantsi kweminyaka engama-35.

Eyona nto ibalulekileyo: I-Trisomy ayiyonto eyenzeka ngenxa yempazamo kamama okanye katata. Lutshintsho lwemfuza olwenzeka ngengozi.

Ixhaphake kangakanani i-trisomy?

Uhlobo oluqhelekileyo lwe-trisomy yi-trisomy 21, okanye i-Down syndrome. Umzekelo, e-United States kuphela, malunga neentsana ezingama-6,000 zizalwa zine-Down syndrome minyaka le. Loo nto ithetha ukuba umntwana omnye kwabangama-700 uzalwe ene-Down syndrome.

Ziziphi iimpawu ze-trisomy ngexesha lokukhulelwa?

Ngexesha lokuhlolwa kwe-ultrasound yokukhulelwa, ugqirha wakho uza kujonga iimpawu ze-trisomy. Ezinye zeempawu ziquka:

• Ubungakanani bamanzi ajikeleze umntwana (i-amniotic fluid) buncinci kakhulu.
• I-umbilical cord yomntwana inomthambo omnye kuphela endaweni yenani eliqhelekileyo lemithambo.
• I-placenta incinci kunesiqhelo.
• Iintshukumo zomntwana (ukuzibhokoxa) zibonakala zincinci.
• Umntwana ubonakala emncinane kunobudala bakhe bokwenyani.
• Ezinye iingxaki zomzimba, umzekelo, iingxaki ezithile zentliziyo okanye i-cleft palate.

Zithini iimpawu emva kokuba umntwana ezelwe?

Iimpawu umntwana anokuziva zinokwahluka ngokuxhomekeke kuhlobo lwe-trisomy. Ezinye zeempawu eziqhelekileyo ziquka:

• Ukuba mfutshane kunesiqhelo (ubude obufutshane).
• Ubuso obungqukuva kunye nobuso obuthe tyaba.
• Inkangeleko ethe tye emehlweni.
• Impumlo eqhekekileyo.
• Ukungasebenzi kakuhle kwamalungu angaphakathi (njengentliziyo, imiphunga, izintso) okanye iingxaki zokusebenza kwawo.
• Ukulibaziseka kophuhliso kunye nokukhubazeka kwengqondo.

Kutheni le nto i-trisomy isenzeka? Ingcaciso yesayensi kakhulu...

Iichromosomes emizimbeni yethu zenziwe ngolandelelwano oluthile. Olu landelelwano lweeseli lufana "nesicwangciso-nkqubo" sokuba singoobani. Xa iiseli zamalungu okuzala zenziwa (isidoda emadodeni, amaqanda kwabasetyhini), ziqala ngeseli enye evundisiweyo. Le seli emva koko idlula kwinkqubo ebizwa ngokuba yi-meiosis . Kulapho iseli enye yahlulahlula kabini, ivelisa iiseli ezine. Iseli nganye entsha inesiqingatha senani le-DNA kwiseli yokuqala, okanye ii-chromosomes ezingama-23.

Le yinkqubo yokwahlulwa kweeseli (i-meiosis).Ngamanye amaxesha iiseli zinokwahlulwa ngokuchanekileyo. Xa oko kusenzeka, kuza ikopi eyongezelelweyo yeseli ize idibanise isibini seechromosomes. Ngokwesiqhelo, kufuneka kubekho iichromosomes ezimbini kwisibini ngasinye. Kodwa apha, ichromosome yesithathu iyakha ize idibanise eso sibini. Oko kubizwa ngokuba yitrisomy.

I-Trisomy yenzeka ngexesha lokukhulelwa . Esi sisiganeko esingahleliwe, esingabangelwanga yinto eyenziwe ngumama ngexesha lokukhulelwa. Nangona kunjalo, njengoko bekutshiwo ngaphambili, umngcipheko uphezulu kancinci kwabo bakhulelwa emva kweminyaka engama-35.

Ifunyanwa njani i-trisomy?

Uvavanyo lwemfuza ngexesha lokukhulelwa lunokubonelela ngeenkcukacha malunga nokuba kukho i-trisomy. Emva kokuba umntwana ezelwe, imeko iqinisekiswa ngovavanyo lomzimba kunye nolunye uvavanyo lwe-chromosome yemfuza kusetyenziswa isampuli yegazi lomntwana.

Ziziphi iimvavanyo ezisetyenziselwa ukuxilonga i-trisomy?

Ngexesha lokukhulelwa, ugqirha wakho usenokuyalela isampuli yegazi kumama wakho kunye neskeni. Njengoko bekutshiwo ngaphambili, iskeni siza kukhangela izinto ezifana nolwelo olugqithisileyo olujikeleze umntwana, ukulumka kwe-nuchal , kunye nobude bamalungu omzimba womntwana. Ezi zinokuba ziimpawu zokungahambi kakuhle kwemfuza.

Emva kwezi mvavanyo zisisiseko, kukho iimvavanyo ezithile eziqinisekisa imeko:

• Isampuli yeChorionic villus (CVS): Phakathi kweeveki ezili-10 ukuya kwezili-13 zokukhulelwa, kuthathwa isampuli encinci yeeseli kwi-placenta ukuze kuvavanywe iimeko zemfuza kunye nesini somntwana.
• I-Amniocentesis: Phakathi kweeveki ezili-15 ukuya kwezingama-20 zokukhulelwa, kuthathwa isampuli encinci yolwelo lwe-amniotic olujikeleze umntwana ukuze kuhlolwe iingxaki zempilo ezinokubakho.
• Isampuli yegazi ephuma ngesikhumba (i-PUBS): Kuthathwa isampuli encinci yegazi kwi-umbilical cord yomntwana ukuze kuhlolwe impilo yomntwana.
• Uvavanyo lokubeleka olungenalo utyando (i-NIPT): Emva kweeveki ezili-10 zokukhulelwa, kuvavanywa isampuli yegazi evela kumama ukuze kuvavanywe ukuba umntwana akanazo na iingxaki zemfuza.

Ziphathwa njani iimeko ze-trisomy?

I-Trisomy yimeko ehlala ubomi bonke. Ke ngoko, unyango oluhlala ixesha elide luyafuneka ukuze kuthomalaliswe iimpawu ezinxulumene nale meko. Unyango lwabantwana abazelwe bene-trisomy luquka:

• Utyando lokulungisa iingxaki zomzimba.
• Ukubonelela ngenkxaso yemfundo .
• Unyango lokuthetha, lokuziphatha kunye nolwemizimba .
• Amayeza okulawula iimpawu zezinye iimeko zonyango ezinokuvela ngokuhamba kwexesha.

Ngaba ikho indlela yokunciphisa umngcipheko we-trisomy?

Enyanisweni, iimeko zemfuza ezifana ne-trisomy azinakuthintelwa. Ngenxa yokuba isiphene se-chromosome senzeka ngokungacwangciswanga ngexesha lokwahlukana kweeseli, unganciphisa umngcipheko wokuba nomntwana onesimo semfuza ngokwenza oku kulandelayo:

• Ukuqonda iingozi zokukhulelwa ukuba ungaphezulu kweminyaka engama-35.
• Ukuhlolwa kwemfuza ngaphambi kokukhulelwa.
• Ukuphepha ukusebenzisa iimveliso zecuba kunye notywala.
• Nyamekela impilo yakho ngokutya ukutya okunesondlo kunye nokuzilolonga rhoqo.

Le trisomy iza kuyichaphazela njani umntwana wam?

Ngenxa yokuba i-chromosome eyongezelelweyo itshintsha "isicwangciso-nkqubo" somntwana, inokubangela iziphene zokuzalwa ( ezifana neempawu zobuso ezahlukileyo) kunye nokukhubazeka kwengqondo. Abantwana abaninzi abazalwa bene-trisomy 12 baya kuba nezinye iingxaki zempilo (ezifana nosulelo lwendlebe oluqhelekileyo, isifo sentliziyo, kunye ne-sleep apnea) emva kokuba imeko ifunyenwe. Nangona kunjalo, ngonyango olufanelekileyo, umntwana wakho unokuphila ubomi obonwabisayo nobanelisayo .

Nangona kunjalo, iintsana ezizelwe zineemeko ezifana neTrisomy 18 okanye iTrisomy 13 zinethuba eliphantsi lokusinda ngaphaya kweeveki zokuqala zobomi (ixesha losana olusandul’ ukuzalwa) ngenxa yobunzima bemeko (ingakumbi ukulibaziseka okanye ukungaqheleki ekuphuhlisweni kwamalungu omzimba). Ugqirha wakho uza kuvavanya impilo yomntwana wakho aze anike unyango lokwandisa amathuba okusinda kwiintsana ezizelwe zinezi meko.

Ndifanele ndimbone nini ugqirha?

Esinye isiphumo esibi se-trisomy kumngcipheko wokuphuphuma kwesisu . Oku kudla ngokuvela kwiinyanga ezintathu zokuqala zokukhulelwa. Ukuba unayo nayiphi na yeempawu zokuphuphuma kwesisu (ezidweliswe ngezantsi), bona ugqirha wakho ngoko nangoko:

• Intlungu yesisu esisezantsi, ukuqaqamba.
• Intlungu esezantsi komqolo.
• Intlungu zesisu.
• Ukopha kancinci okanye okunzulu.
• Ukuba nomkhuhlane kunye nomkhuhlane.

Yeyiphi imibuzo ebalulekileyo ekufuneka uyibuze ugqirha?

Ukuba uneminye imibuzo malunga noku, ungoyiki ukubuza ugqirha wakho. Nazi ezinye zemibuzo onokuyibuza:

• Ndingawunciphisa njani umngcipheko wokuba nomntwana onesifo semfuza esifana ne-trisomy?
• Zeziphi iimvavanyo zokukhulelwa ozicebisayo ukuqinisekisa ukuba umntwana wam unesimo semfuza?
• Ngaba ndingakhulelwa ngempumelelo emva kokuba ndifunyaniswe ndine-trisomy?

Yintoni umahluko phakathi kweTrisomy kunye neMonosomy?

Zombini ezi ziimeko zemfuza.

• I-Trisomy kukubakho kwekopi eyongezelelweyo ye-chromosome.
• I-monosomy kukungabikho kwekopi enye ye-chromosome (oko kukuthi, ukulahleka kwe-chromosome enye).

Zombini ezi meko zemfuza zenzeka ngenxa yotshintsho lwemfuza olwenzeka ngexesha lokwahlukana kweeseli. Oku kungaqhelekanga akunakuthintelwa ukuba kwenzeke ngexesha lokwahlukana kweeseli.

Yintoni ekufuneka uyikhumbule koko sikuthethileyo (Umyalezo Wokubuyela Ekhaya)

Ekubeni kungekho ndlela yokuthintela iingxaki zemfuza ezifana ne-trisomy, ukuba uceba ukukhulelwa, thetha nogqirha wakho malunga novavanyo lwemfuza ukuze uvavanye umngcipheko wokuba nomntwana onesimo semfuza.

Ukuba ufunyaniswe une-trisomy condition ngelixa ukhulelwe, ungoyiki. Kukho inkxaso eninzi kunye nezixhobo ezikhoyo zokukunceda wena nomntwana wakho niphile ubomi obusempilweni nobanelisayo. Ingcebiso nge-genetic inokukunceda uqonde imeko yomntwana wakho kwaye unike ukhathalelo kunye nenkxaso abayidingayo njengoko bekhula. Khumbula, awuwedwa.

I- Trisomy, ii-chromosomes, ii-genes, i-Down syndrome, ukukhulelwa, uvavanyo lwe-genetic, i-Patau syndrome, i-Edward syndrome