Ukuqonda izinhlobo ze-Trisomy 22 kanye nesixhumanisi sabo ekuthumeni

Izinkinga ze-Chromosomal yimbangela evamile yokulahleka kokukhulelwa kokuqala

Izinkinga ze-Chromosome, ezifana ne-Trisomy 22, yizona eziyimbangela ejwayelekile kunazo zonke zokuhlukunyezwa kokuqala kwe-trimester. Kuye ngokuthi i-chromosome ethinteka kanjani, ama-chromosomes engeziwe noma amasha ama-chromosomes (noma izingxenye zama-chromosomes) angabangela noma yini kusuka ezinkingeni zezempilo ezincane kuya ezimweni ezingahambisani nokuphila. I-Trisomy 22 ingenye yezifo ezinzima kakhulu ze- chromosome .

Ngabe i-Trisomy 22 isho ukuthini

I-Trisomy 22 isho ukuthi umuntu unamakhophi amathathu we-chromosome engama-22 kunamakhophi amabili alindelekile.

Lesi simo singagcwaliseka (okusho ukuthi wonke amangqamuzana emzimbeni ashintshiwe) noma umdwebo (okusho ukuthi amanye amangqamuzana ayathinteka kodwa hhayi abanye). Kungenzeka futhi ukuthi ube ne-trisomy 22 eyingxenye, okusho amakhophi amabili ephelele we-chromosome 22 kanye nekhophi eyengeziwe engaphelele yohlu kuphela le-chromosome.

Ukuxilongwa

I-Trisomy 22 ingatholakala ngesifo sokuhlukumeza noma ukubeletha. Kungenzeka ukuthi itholakale yi- CVS noma i-amniocentesis, nakuba imiphumela yokuhlolwa ngaphambi kokubeletha ebonisa i-trisomy 22 ayisho ukuthi ingane izothinteka kakhulu (bheka ngezansi).

Imiphumela Ye-Complete Trisomy 22

Ukuphela kwe-trisomy 22 cishe njalo kubangela ukukhulelwa kwesisu kokuqala kwe-trimester; lesi simo asihambisani nokuphila futhi akukho nhlobo yengane ene-trisomy ephelele engu-22 ehlala isikhathi eside. Abacwaningi bakholelwa ukuthi i-trisomy 22 ibhalwa ngamaphesenti angu-3 ukuya kwangu-5 azo zonke izifo eziphuthumayo zakuqala.

Imiphumela ye-Mosaic Trisomy 22

Imiphumela ye-trisomy e-mosaic 22 ingaba mnene kwabanye abantu futhi ingathí sina kwabanye.

Kodwa ukuhlolwa kokubeletha okuthola ngaphambi kokubeletha okuthola i-trisomy mosai 22 akukwazi ukubikezela imiphumela. Izinsana eziningi ezibonakala zine-trisomy e-mosaic 22 emamococisis noma imiphumela ye-CVS ayinayo izinkinga zempilo ezibonakalayo ekuzalweni; izingane eziqinisekisiwe ngokuthi zine-mosaic trisomy 22 lapho zizalwa zingase zithole izinkinga zezempilo.

Uma Ingane Yakho Inesifo Se-Trisomy 22

Uma utshelwe ukuthi ingane oye yaphulukisa yayine-trisomy 22, qiniseka ukuthi ukukhulelwa kwesisu kwakungeyona iphutha lakho futhi akukho lutho ongayenza ukuze uluvimbele. Ukukhulelwa okukodwa okuthinteka yi-trisomy 22 akusho ukuthi unengozi ephakeme ye-trisomy 22 ekukhulelweni okuzayo. Ezimweni eziningi, imiphumela ye-trisomy 22 ivela ezinkingeni ezingahleliwe ekuhlukaneni kweselula futhi ayibuyanga.

Uma okwamanje ukhulelwe futhi ube ne-CVS ebonisa i-trisomy 22, umqondo omuhle ukukhuluma nomeluleki wezakhi zofuzo noma udokotela onguchwepheshe wezakhi zofuzo. Amathuba aphansi ukuthi ingane yakho i-trisomy ephelele 22, futhi cishe kungenzeka ukuthi ingane yakho ine-trisomy ephathekayo 22 noma uhlobo lwe-trisomy 22 ekhona kuphela e-placenta.

Udokotela wakho angase ancoma i-amniocentesis ukuze ikwazi ukukhanyisa isimo. Lapho i-amniocentesis ingaqiniseki i-trisomy, amathuba aphezulu ukuthi i-trisomy ikhona kuphela e-placenta futhi ingane ijwayelekile ngokwezifiso. Kodwa kungase kube khona ingozi yokuvimbela ukukhula kwe- intrauterine nokucindezeleka kokukhulelwa ngenxa ye-placenta engavamile, futhi ungadinga ukuqapha okungaphezulu kokusala kwakho kokukhulelwa.

Uma i-amniocentesis iqinisekisa ukusabalalisa emntwaneni, umeluleki wakho wezakhi zofuzo noma ochwepheshe bezakhi zofuzo angakunikeza ulwazi olusesikhathini samanje ngalokho okumele ulindele.

Umthombo

I-Trisomy 22 yomusa. IYunivesithi yaseBrithani Columbia. Kufinyelelwe: Apr. 14, 2009.