I-Trisomy 13 ingatholakala ngesikhathi noma emva kokukhulelwa
Ukungahleleki kwe-Chromosomal kungenye yezimbangela ezivame kakhulu zokukhulelwa kwesisu nokubeletha. Esimweni esaziwa ngokuthi i-trisomy, umuntu othintekile unamakhophi amathathu e-chromosome ethile esikhundleni sezinto ezimbili (abantu kufanele babe nama-chromosomes angama-46, ama-23 amabili). Kunezinhlobo eziningana zezinkinga ezihlanganisa i-Down syndrome (i-trisomy 21), i-Edwards syndrome (i-Trisomy 18) ne-Patau syndrome (i-Trisomy 13).
I-Patau syndrome yinkinga enkulu kunazo zonke.
Izinsana ezine-Patau syndrome cishe ziyoba nezici ezingavamile, ukukhubazeka kwengqondo nezinkinga nezitho zangaphakathi. Iningi lezingane ezithintekile zifa ngenyanga yokuqala emva kokuzalwa noma kungakapheli ngonyaka wokuqala ngenxa yezinkinga zempilo ezihambisana nesimo.
Cishe ingane eyodwa kwabangu-16 000 izalwa ne-Patau syndrome. Abacwaningi bakholelwa ukuthi cishe amaphesenti angama-95 ezingane ezinamaPatau syndrome aphelelwe amandla noma azalwa. Akekho owaziyo ukuthi kungani abanye bephila kuze kube sesikhathini ngenkathi abanye bengaboni. Izinsana eziningi ezisinda azihlali ngesonto lokuqala. Amaphesenti amahlanu kuya kwangu-10 kuphela akwenza kube usuku lokuzalwa lwawo lokuqala.
Ukuthola i-Trisomy 13
Izivivinyo zokuhlola ngaphambi kokubeletha ezifana nokuhlola kwe- alphafetoprotein nokukhulelwa kwe-ultrasound kungabonisa izimpawu zezimo ze-chromosomal okungenzeka kodwa azikwazi ukunikeza ukuxilongwa. Izivivinyo zofuzo kuphela ezifana ne- amniocentesis kanye nesampuli ye-chorionic villus (i-CVS) ingahlinzeka ngokuxilongwa okucacile.
Kungenzeka ukuthi i-Patau syndrome ingabonakaliswa njengesizathu sokulahlekelwa kokukhulelwa uma lo mbhangqwana ufuna i-karyotyping yezofuzo ngemuva kokukhulelwa kwesisu noma ukubeletha.
Izinhlobo zePatau Syndrome
Njengazinye izifo ze-trisomy, kunezinhlobo ezintathu ze-Patau syndrome:
- I-trisomy egcwele 13: Uhlobo oluvame kakhulu. Abantu abanalo hlobo banamakhophi amathathu agcwele i-chromosome 13.
- I-trisomy eyingxenye 13: Abantu banamakhophi amabili aphelele we-chromosome 13 kanye nengxenye eyengeziwe ye-chromosome 13.
- I-trisomy kaMose 13: Amanye amangqamuzana omzimba ayenawo amakhophi amathathu e-chromosome 13 kanti amanye anamakhophi amabili avamile.
Ingozi Yokuphindaphinda
Esikhathini esiningi, imbangela ye-trisomy 13 yiphutha elingahleliwe ekuhlukaniseni amaselula phakathi nokwakhiwa kweqanda noma isidoda, okusho ukuthi inkinga ikhona ngesikhathi sokukhulelwa. Kulesi simo, kungenzeka ukuthi lesi sifo ngeke siphumelele. Ezimweni ezingavamile, umzali angase abe ne- translocation elinganiselayo ehilela i-chromosome 13. Abantu abane-translocation elinganiselayo banengozi eyengeziwe yokuba nengane ene-trisomy eyingxenye 13 futhi.
Ukunquma Okufanele Ukwenze Uma Ingane Yakho I-Patau Syndrome
Omunye wemibandela yokuqala ongase ubuzwe uma ingane yakho ithole ukuxilongwa kwe-Patau syndrome kungukuthi ufuna ukuqhubeka nokukhulelwa (noma uphishekele ukungenelela okukhulu uma umntwana ezalwa enezinkinga zempilo). Ngesikhathi sokukhulelwa, abanye abazali bakhetha ukuqeda izinsana ezitholakale zinePatau syndrome ngenxa yokuhlushwa okubi kakhulu kanye nesifiso sokungasondeli ukudabuka kokulahlekelwa. Abanye baqhubeka nokukhulelwa ngenxa yezinkolelo ngokukhipha isisu noma ngenxa yokuthi bazizwa ukuthi bangathanda ukuchitha isikhathi nengane ngisho noma kubonakala sengathi kuyifushane.
Okufanayo kubantwana abatholwa ngemuva kokuzalwa - abanye abazali bakhetha ukunakekelwa kokududuza kuphela, kanti abanye bakhetha ukungenelela okunzulu kwezokwelapha nakuba amathuba avela kancane ukuthi umntwana uzosinda ebuntwaneni.
Uma ngabe ingane yakho itholwe ukuthi i-Patau syndrome, ungathola noma yiliphi inani lezimzwelo kusukela ekudabukeleni kuya entukuthelweni kuze kube yinkimbinkimbi ukuze uzizwe ukhululekile. Kuhle ukuthi uthathe isikhathi sakho uphinde usebenze isimo ngaphambi kokuqhubekela phambili nokwenza izinqumo noma izinhlelo. Ayikho indlela "efanele" yokuzizwa futhi ayikho inkambo eyodwa yokusebenza "efanele" okumele ithathe ngalezi zifo. Kufanele wenze noma yini ozizwa ukuthi uzokwazi ukuhlala nayo, futhi impendulo ihlukile kuwo wonke umuntu.
Kungakhathaliseki ukuthi uthatha isinqumo, kuhle ukudabuka ukulahlekelwa kwengane owawukulindele ukuba nayo. Kungaba usizo ukujoyina amaqembu asekela abazali bezingane ezinama-Patau syndrome noma ezinye izifo ezinzima ze-chromosomal.
Imithombo:
I-Patau Syndrome. Ilabhulali Kazwelonke Yezempilo. I-Genetic Conditions Specialist Library.
I-Trisomy 13 - I-Home Reference Reference. Ilabhulali Kazwelonke Yezokwelapha.