I-Trisomy 13

Ukwehlukana kweGenes kuyathinteka kakhulu ekuthuthukeni kwengane, ngakho-ke le nkinga igxila kakhulu odokotela nabazali besikhathi esizayo. Esinye sezifo ezinjalo yi-Patau syndrome, ebangelwa i-trisomy ku-chromosome 13. Mayelana nalo futhi sizoxoxa kule ngxenye.

Kuyini iTrisomy 13?

I-Patau syndrome yisifo esingavamile kakhulu kune- Down's syndrome ne-Edwards syndrome . Kubonakala cishe isikhathi esingu-6 000-14000 ukukhulelwa. Kodwa, emva kwakho konke, ingenye yezinto ezintathu ezijwayelekile kakhulu eziphathelene ne-gene pathologies. Isifo sakhiwa ngezindlela eziningana:

• ngenxa yokubunjwa kwe-chromosome eyengeziwe ku-pair - i-trisomy elula;
• ngenxa yokuguqulwa, ngenxa yendalo engalungile noma ukulungiswa kwesifa - ukudluliselwa kukaRobertson.

Futhi, iphelele (kuwo wonke amaseli), uhlobo lomongo (kwezinye) futhi luyingxenye (ukutholakala kwezitho ezingeziwe zama-chromosomes).

Indlela yokuthola i-trisomy 13?

Ukuthola inani elingavamile lama-chromosomes ebusweni, isifundo esiyinkimbinkimbi kakhulu siyadingeka - i- amniocentesis , ngesikhathi lapho amanzi amniotic amancane athathwa khona ukuze atadishe. Le nqubo ingabangela ukukhulelwa kwesisu okuzenzakalelayo. Ngakho-ke, ukuthola ukuthi ingozi yokutholakala kwe-trisomy 13 enganeni, isilingo esiphezulu sokuhlola sinikezwa. Iqukethe ukwenza i-ultrasound kanye nesampuli segazi kusuka emthanjeni, ukucacisa ukwakheka kwayo kwemvelo.

Ukubona izingozi ze-trisomy 13

Ngemva kokupha igazi emavikini angu-12-13 kanye ne-ultrasound, umama wesikhathi esizayo uzothola umphumela, lapho izingozi eziyisisekelo nezomuntu zizocaciswa ngokucacile. Uma inombolo yesibili ye-trisomy yokuqala 13 (okungukuthi, evamile) ingaphansi kweyesibili, khona-ke ingozi iphansi (isibonelo: isisekelo esisodwa singu-1: 5000, kanti lowo nalowo ngu-1: 7891). Uma ngokuphambene nalokho, ukubonisana ne-geneticist kuyadingeka.

Izimpawu ze-trisomy 13 ezinganeni

Lesi sifo sokukhubazeka senza ukwephula okukhulu kakhulu ekuthuthukiseni kwengane, engabonakala nakwe-ultrasound:

• isakhiwo esingalungile sobuso: amehlo asondele kakhulu, ikhanda elithambile, umcibisholo emlonyeni ongaphezulu (kokubili lip kunye nesibhakabhaka), ukuguqulwa kwezindlebe nekhala;
• ukutholakala kweminwe eyengeziwe kanye nezinye izinkinga ezithombeni;
• izinkinga zangaphakathi: izinhliziyo, izinso, ama-pancre, njll.

Ngokuvamile, ukukhulelwa okunjalo kuhambisana nama-polyhydramnios nesisindo esincane se-fetus. Izingane ezinezifo zifa ngaphezulu emavikini okuqala ngemva kokubeletha.