I-Trisomy 18 Ngaba yinto eqhelekileyo kwiintombi
Enye yeemeko zempilo ezinzulu zihlolwe kwisicatshulwa sokuqala sokuhlola i-Edwards Syndrome, imeko ye-chromosomal ene-prognosis ephazamisayo. I-Edwards Syndrome yaziwa nangokuthi yi-Trisomy 18 Syndrome kuba kukho iikopi ze-chromosome 18.
Izibalo
I-Edwards Syndrome ivela kwi-1 kuzo zonke ii-6,000 ezizalwayo ezizalwayo kwaye ziphindwe kathathu ngokumalunga namantombazana, ngokweZiko leSizwe lezeMpilo (NIH).
Nangona kunjalo, iziganeko ngexesha lokukhulelwa liphezulu kakhulu kuba ngamaphesenti angama-95 amabhinqa anesifo somntwana one-trisomy 18 anesisu okanye isisu .
Prognosis
Ngokudabukisayo, i-NIH ichaza iziphumo zeentsana ezelwe ngo-Edwards Syndrome azintle, eziquka:
- Isiqingatha seentsana asinakuphila ngaphaya kweveki yokuqala yobomi.
- Abantwana abasithoba kwabayishumi baya kufa ngaphambi kokuzalwa kwabo kokuqala.
- Abanye abantwana basinda kwiminyaka yeshumi elivisayo, kodwa ngeengxaki ezinkulu zonyango kunye nophuhliso.
Iintlobo
Ifomu eqhelekileyo ye-Edwards Syndrome igcwele i-trisomy 18, oku kuthetha ukuba umntwana uneemifanekiso ezintathu ezipheleleyo ze-chromosome ye-18 esikhundleni sezinto ezimbini.
Kwakhona kunokwenzeka ukuba ne-trisomy 18, apho kukho iikopi ezipheleleyo ze-chromosome 18 kunye nekhophi enye eyongezelelweyo.
Enye enye uhlobo luhlobo lwe-trisomy 18, oluthetha ukuba kukho umphumo kwezinye, kodwa kungekhona zonke iiseli.
Ezi zimbini zimbalwa ziqhathaniswa zifaniswe ne-trisomy epheleleyo 18.
Isibhengezo asihlukanga ngohlobo.
Izizathu kunye neengozi
Ikopi eyongezelelweyo ye-chromosome 18 isele ikhona ngexesha lokuchumisa kunye neziphumo ezivela kwiiphene ezingenangqamaniso kwisahlulo seseli. I-Trisomy 18 ingenzeka kubazali bazo zonke iindidi, kodwa umngcipheko uphezulu xa ama-mama ekhulile kunama-35.
Ukuxilongwa
I- amniocentesis okanye i-chorionic villus sampling ingahlola u-Edward's Syndrome.
Uvavanyo lwe- alphafetoprotein alukwazi ukuqinisekisa (okanye ukulawula ngokupheleleyo) i-trisomy 18 kodwa ingabonisa nje ukuba iingxaki zokuba umntwana usenokuba nesimo. Ezinye iimvavanyo zichanileyo kunabanye.
Uvavanyo lwe-Genetic yintsimi eguqukayo kwaye, ngokuqinisekileyo, iimvavanyo ezitsha kunye nezichanekileyo zisemgangathweni.
Ingozi yokuphindaphinda
Ubuninzi bexesha, i-trisomy 18 yenzeke ngokungahleliwe ngenxa yeengxaki kwi-cell division. Kwiimeko ezinqabileyo, abazali baphethe i-trisomy ye-18 ekhethekileyo ngenxa yemeko ebizwa ngokuba yi-translocation enokulinganisela eyandisa ingozi yokukhulelwa kwangaphambili.
Ukuba kukho ithuba lokuba ube ngumphathiswa, ugqirha wakho unokukuthumela kumcebisi wezofuzo ukuze uxoxe ngokukhetha kwakho. Kodwa abaninzi abazali abanabantwana abane-trisomy 18 abayithwali.
Ukujongana ne-Edwards Syndrome Diagnosis
Ukuxilongwa kwe-Edwards Syndrome yiindaba eziphazamisayo. Abazali abaninzi bakhetha ukuphelisa ukukhulelwa kwabo emva kokufumana ubungqina bokuthi umntwana une-trisomy 18, enika ingozi ephezulu yeengxaki zempilo kunye neengxaki eziphantsi zentsana ezisusela ebusaneni. Abanye banquma ukuqhubeka nokukhulelwa nangona kunjalo, ngenxa yeenkolelo ekukhusheni isisu okanye ngenxa yengqondo abafuna ukuyigcina ixesha kunye nosana nokuba ngaba lifutshane.
Akukho nto "echanekileyo" kukhetho malunga nento yokwenza kule meko. Abazali abajongene nokuxilongwa kufuneka benze oko baziva bekulungele.
> Imithombo:
I-Medline Plus: iTrisomy 18 (2016)
I-Trisomy 18 Isiseko: Yintoni i-Trisomy 18?