I-Trisomy 18 Ingabe Yivamile Kakhulu Kwabesifazane
Enye yezimo zezempilo ezibucayi ezihlolwe ekuhlolweni kokuhlolwa kokubeletha ngaphambi kokubeletha yi-Edwards Syndrome, isimo se-chromosomal esinesixwayiso esibucayi. U-Edwards Syndrome uyaziwa nangokuthi i-Trisomy 18 Syndrome ngoba kunamakhophi amathathu we-chromosome 18.
Izibalo
I-Edwards Syndrome ibonakala ku-1 kwabangu-6,000 abazalwa ngokuzalwa futhi iphindwe kabili emantombazaneni, ngokusho kweNational Institutes of Health (NIH).
Kodwa-ke, lesi sigameko ngesikhathi sokukhulelwa sikhulu kakhulu ngoba cishe amaphesenti angu-95 abesifazane abathunjwa abane-trisomy 18 banesisu noma isisu .
Isibikezelo
Ngokudabukisayo, i-NIH ichaza imiphumela yezingane ezelwe nge-Edwards Syndrome akulungile, kufaka phakathi:
- Ingxenye yezinsana azihlali ngaphezu kweviki lokuqala lokuphila.
- Abantwana abayisishiyagalolunye kwabayishumi bazofa ngaphambi kokuzalwa kwabo kokuqala.
- Ezinye izingane zisinda eminyakeni yobusha, kodwa ngezinkinga ezinkulu zokwelapha nezentuthuko.
Izinhlobo
Ifomu elijwayelekile kakhulu lika-Edwards Syndrome ligcwele i-trisomy 18, okusho ukuthi umntwana unezikhophi ezintathu ezigcwele ze-chromosome yesishiyagalolunye esikhundleni sama-amabili.
Kungenzeka futhi ukuba ne-trisomy 18, lapho kukhona amakhophi amabili egcwele ye-chromosome 18 kanye nekhophi eyengeziwe engokwengxenye.
Noma kunjalo uhlobo oluthile lwe-trisomy 18 yama-mosaic, okusho ukuthi kunomthelela kwezinye, kodwa hhayi zonke, amaseli.
Lezi zinhlobo ezimbili zokugcina zingavamile uma kuqhathaniswa ne-trisomy egcwele 18.
Isibikezelo asifani nhlobo.
Izimbangela Nezici Zengozi
Ikhophi eyengeziwe ye-chromosome 18 isivele ikhona ngesikhathi sokukhulelwa kanye nemiphumela esuka emaphutha angenangqondo ekuhlukaneni kweseli. I-Trisomy 18 ingenzeka kubazali bazo zonke izigaba, kodwa ingozi iphezulu kakhulu uma omama bekhulile kunama-35.
Ukuxilongwa
I- amniocentesis noma i-chorionic villus sampling ingahlola u-Edward's Syndrome.
Isivivinyo sama-alphafetoprotein asikwazi ukuqinisekisa (noma ukulawula ngokuphelele) i-trisomy 18 kepha singabonisa nje ukuthi kunzima ukuthi ingane ingabi nesimo. Ukuhlolwa okunye kunembile kunabanye.
Ukuhlola i-genetic iyinkambu eguqukayo futhi, ngokuqinisekile, ukuhlolwa okusha futhi okunembile kuseduze.
Ingozi Yokuphindaphinda
Esikhathini esiningi, i-trisomy 18 yenzeke ngokungahleliwe ngenxa yezinkinga zokuhlukaniswa kwamaseli. Ezimweni ezingavamile, abazali bayithwala ye-trisomy engu-18 ngenxa ye-condition ebizwa ngokuthi i-translocation elinganiselayo eyandisa ingozi yokukhulelwa esikhathini esizayo.
Uma kukhona ithuba lokuthi ungase ube othwala, udokotela wakho angakunikeza kumeluleki wezakhi zofuzo ukuze uxoxe ngezinketho zakho. Kodwa abazali abaningi abanabantwana abane-trisomy 18 abayithwali.
Ukubhekana nokuhlolwa kwesifo se-Edwards Syndrome
Ukuxilongwa kwe-Edwards Syndrome yizindaba eziphazamisayo. Abazali abaningi bakhetha ukuqeda ukukhulelwa kwabo ngemuva kokuthola isiqiniseko sokuthi umntwana une-trisomy 18, enikezwa ingozi enkulu yezinkinga zempilo ezibucayi kanye nezinkinga eziphansi zomsana osusana. Abanye banquma ukuqhubeka nokukhulelwa noma kunjalo, ngenxa yezinkolelo zokukhishwa isisu noma ngenxa yengqondo abafuna ukuyigcina isikhathi nengane ngisho noma ifushane.
Akukho "okulungile" okukhethwa kukho okumele kwenziwe kulokhu. Abazali ababhekene nalesi sifo kufanele bawenze lokho abakuthandayo.
> Imithombo:
I-Medline Plus: i-Trisomy 18 (2016)
I-Trisomy 18 Isisekelo: Kuyini i-Trisomy 18?