Ziziphi izimbangela zezi pathologies kwaye yintoni umngcipheko wokuba nomntwana one-trisomy kwi-chromosome engama-21 18 13-makhe sizame ukuyifumanisa.
Pathophysiology of Diseases
I-genetic pathologies eqhelekileyo-i-trisomy kwi-13, 18, okanye i-21 i-chromosomes ivela ngenxa yokungabikho ngokungafanelekanga kwezinto eziphathekayo kwi-cell division. Ngamanye amagama, i-fetus izuzwa kubazali endaweni yeekromosomes ezimbini ezimiselweyo, ngelixa ikopi eyongezelelweyo ye-13, 18 okanye i-21 i-chromosomes inqanda ukukhula ngokwengqondo nangokwenyama.
Ngokwezibalo, i-trisomy kwi-chromosome yesi-21 (i-Down cider) iyenzeka kaninzi kune-trisomy kwi-chromosomes ye-13 ne-18. Kwaye ixesha lokuphila kweentsana ezalwa ngama-syndromes kaPatau no-Edwards, njengomthetho, ungaphantsi konyaka. Ngoxa abathwali beekhompyutheni ze-chromosome ezingama-21 basinda kwibudala.
Kodwa nangona kunjalo, abantwana abaneempazamo ezifanayo abakwazi ukuba ngamalungu epheleleyo oluntu, sinokuthi bathe bafumane isizungu kunye nosizi. Ngoko ke, abafazi abakhulelwe, emva kokuphengulula i-biochemical screening, bafumene ingozi enkulu ye-trisomy kwi-chromosome yesi-13, 18, yesibini yesi-21, iyakongezwa kwakhona. Ukuba ukuxilongwa kuqinisekiswa, banokucelwa ukuba banqunywe ukukhulelwa.
I-Trisomy 21 18 13: ukuchazwa kohlalutyo
Umngcipheko wokuba nomntwana one-trisomy ye-21, 18, okanye i-chromosome ye-13 ivama ngamanye amaxesha ngonina lomama, kodwa oku akunako ukukhutshwa kumantombazana amantombazana. Ukuze kuncitshiswe inani labantwana abazalwe nalezi zifo, izazinzulu ziye zaphuhlisa iindlela ezikhethekileyo zokuxilonga ezivumela umntu ukuba akrokre ukuba into engalunganga ngexesha lokukhulelwa.
Kwinqanaba lokuqala lokuxilongwa, oomama abazayo, oogqirha banconywa kakhulu ukuba baphumelele iimvavanyo zokuhlola, ngokukodwa, okubizwa ngokuba yi-test triple. Ukususela kwiiveki ezingama-15-20, loo mfazi unikela ukuhlolwa kwegazi, ngokubhekiselele kulo nqanaba elimiselweyo: AFP (i-alpha-fetoprotein), i-estriol, i-hCG kunye ne-inhibin-A. Ezi zilandelayo zibonakalisa iimpawu zokuphuhliswa kunye nemeko yomntwana.
Ukuze kusetyenziswe umngcipheko we-trisomy kwi-21, 18, 13 ye-chromosome, imilinganiselo yobudala ithelekisa izalathisi ezifumanekayo. Kuyaziwa ukuba abafazi banomngcipheko wokuphuhlisa i-fetal Down syndrome:
- ngaphantsi kweminyaka eyi-25 1: 1250;
- kwiminyaka engama-30-1: 1000;
- kwiminyaka engama-35-1: 400;
- kwiminyaka engama-40-1: 100;
- kwabasetyhini abakhulelweyo abangaphezu kwe-45, ingozi yokugula ikhe xaxa ikhula - 1 ukuya ku-40.
Ngokomzekelo, ukuba umphumo wokubhenca wesibini oneminyaka engama-38 ubudala ngowama-1:95, oku kubonisa ingozi eyongeziweyo kunye nemfuneko yokuhlolwa okongeziweyo. Ukuxilongwa kokugqibela, iindlela ezifana ne- chorion biopsy , amniocentesis , cordocentesis, placentocentesis zisetyenziswa.
Ukuxhomekeka kokunyuka kwengozi yokuba nabantwana abane-trisomy 13, 18, kuxhomekeke kwiminyaka kamama, kulandelwa, kodwa ayichazwanga kangangoko kunokwenzeka kwimeko ye-trisomy 21. Ku-50%, ukuphambuka kubonakala ngexesha le-ultrasound. Kwizakhono zengcali, akunzima ukucacisa i-Edwards okanye i-Patau syndrome ngampawu zobunjani.
