Ziyini izimbangela zalezi zifo kanye nengozi yokuba nengane ene-trisomy ku-chromosome engu-21 18 13 - ake sizame ukuyihlola.
I-Pathophysiology of Diseases
I-pathologies ejwayelekile kunazo zonke - i-trisomy kuma-13, 18, noma ama-chromosomes angama-21 avela ngenxa yokusabalalisa okungalungile kwezinto eziphathekayo kuhlelo lokuhlukaniswa kwamaseli. Ngamanye amazwi, i-fetus izuzwa kubazali esikhundleni sama-chromosomes amabili anqunyiwe, kanti ikhophi eyengeziwe yama-chromosomes angu-13, angu-18 noma angu-21 evimbela ukuthuthukiswa ngokomzimba nangokwenyama.
Ngokwezibalo, i-trisomy kwi-chromosome engama-21 (i-Down cider) ivele kaningi kakhulu kune-trisomy kuma-chromosomes ka-13 no-18. Futhi isikhathi sokuphila kwezinsana ezelwe nge-Patau no-Edwards syndromes, njengomthetho, singaphansi konyaka. Ngesikhathi abathwali bamakhophi amathathu e-chromosome angu-21 basinda ekugugeni.
Kodwa kunoma yikuphi, izingane ezinokuhlukunyezwa okufanayo azikwazi ukuba ngamalungu agcwele omphakathi, singasho ukuthi zizohlushwa isizungu nokuhlupheka. Ngakho-ke, abesifazane abakhulelwe, ngemuva kokuhlola ukuhlolwa kwezinto eziphilayo, bathola ingozi enkulu ye-trisomy kwi-chromosome yesi-13, 18, 21, futhi bayabuyekezwa. Uma ukuxilongwa kuqinisekisiwe, bangase baceliwe ukuba banqamule ukukhulelwa.
I-Trisomy 21 18 13: ukuchazwa kokuhlaziya
Ingozi yokuba nengane ene-trisomy ye-21, 18, noma i-chromosome yesi-13 ivame ukwanda ngezinye izikhathi ngenkathi umama, kodwa lokhu akukwazi ukukhishwa emantombazaneni amancane. Ukuze kunciphise inani lezingane ezizalwe nalezi zifo, ososayensi baye bahlakulela izindlela ezikhethekile zokuxilonga ezivumela umuntu ukuba asole ukuthi kukhona okungahambi kahle ngesikhathi sokukhulelwa.
Esigabeni sokuqala sokuxilongwa, omama abazayo, odokotela banconywa kakhulu ukuba badlule ukuhlolwa kokuhlolwa, ikakhulukazi, okuthiwa ukuhlolwa kathathu. Kusukela emavikini angu-15-20, lo wesifazane unikeza ukuhlolwa kwegazi, ngokusho ukuthi izinga lizimisele: AFP (alpha-fetoprotein), estriol, hCG kanye ne-inhibin-A. Lezi zinsuku ziyizimpawu zokuthuthukiswa nesimo se-fetus.
Ukuze kutholakale ingozi ye-trisomy ku-21, 18, 13, i-chromosome, imigomo yobudala iqhathanisa nezinkomba ezitholakalayo. Kuyaziwa ukuthi abesifazane banengozi yokuthuthukisa i-fetal Down syndrome:
- ngaphansi kweminyaka engu-25 1: 1250;
- eminyakeni engu-30 - 1: 1000;
- eminyakeni engama-35 - 1: 400;
- eminyakeni engama-40 - 1: 100;
- kubesifazane abakhulelwe abangaphezu kuka-45, ingozi yokukhubazeka ngezinye izikhathi iyanda - 1 kuya ku-40.
Isibonelo, uma umphumela wokuhlola wesifazane oneminyaka engu-38 ubudala u-1:95, lokhu kubonisa ingozi eyengeziwe futhi isidingo sokuhlolwa okwengeziwe. Ukuze uthole ukuxilongwa kokugcina, izindlela ezifana ne- chorion biopsy , amniocentesis , cordocentesis, placentocentesis zisetshenziswa.
Ukuthembela kokwanda kwengozi yokuba nezingane ezine-trisomy 13, 18, kuye ngokuthi uneminyaka engakanani umama, kulandelwa futhi, kodwa kuncane kunalokho okushiwo yi-trisomy 21. Ngama-50%, ukuphambuka kubonakala ngesikhathi se-ultrasound. Ukuze onguchwepheshe onolwazi, akunzima ukunquma i-Edwards noma i-Patau syndrome ngezici zobuntu.
