I-Down's syndrome yi-chromosomal pathology, i.e. lapho ebeletha ingane ithola i-chromosome eyengeziwe, esikhundleni se-46 evamile, ingane ineama-chromosomes angu-47. Yona kanye igama elithi syndrome lisho isethi kwanoma yiziphi izimpawu, izici zobuntu. Lesi senzakalo sachazwa okokuqala ngudokotela waseNgilandi uJohn Down ngo-1866, ngakho igama lelesi sifo, nakuba udokotela engakaze agule, njengoba abaningi bakholelwa ngephutha. Ngokokuqala ngqa, udokotela waseNgilandi wachaza lesi sifo njengesifo sengqondo. Kuze kube-1970, ngenxa yalesi sizathu, lesi sifo sasiboshwe ekubandleni. EJalimane yamaNazi, ngaleyo ndlela, baqothula abantu abaphansi. Kuze kube phakathi kwekhulu lama-20, kwakukhona imibono eminingana yokubonakala kwalokhu kuphazamiseka:
Ubuhlobo obukhona phakathi kokuzalwa kwengane ekhubazekile kanye neminyaka yobudala (iminyaka engaphezu kwengu-35);
I-syndrome ibonakalisa kuphela ngokungahambisani okuthile kwezakhi zofuzo nezifa;
Okukude kakhulu kunombono weqiniso wukuthi lesi sifo senziwa ngokuhlukunyezwa kokubeletha.
Ngenxa yokutholakala kobuchwepheshe besimanje obuvumela ososayensi ukuba bafunde okuthiwa i- karyotype (okungukuthi, isethi ye-chromosome yezimpawu ze-chromosome emangqamuzaneni omzimba womuntu), kwaba khona ukufakazela ukuthi kukhona ama-chromosomes anomzimba. Kwakuyi-1959 kuphela ukuthi i-geneticist evela eFrance, uJerome Lejeune, yabonisa ukuthi lesi sifo sibonakala ngenxa ye-trisomy ye-chromosome engama-21 (okungukuthi, ukuba khona kwe-chromosome eyengeziwe kwisethi ye-chromosome yenyama - ingane ithola i-chromosome eyengeziwe evela kumama noma ubaba). Ngokuvamile, i-Down syndrome ivela ezinganeni ezinomama omdala asebekhulile ngokwanele, futhi nasezinsana ezisemindenini yazo eziye zabhekana nezifo zalesi sifo. Ngokucwaninga kwanamuhla, i-ecology nezinye izinto zangaphandle azikwazi ukubangela lokhu kuphazamiseka. Futhi, ngokusho kocwaningo, ubaba wengane engaphezu kweminyaka engu-42, angabangela isifo kumntwana osanda kuzalwa.
Ukuze ukwazi kusengaphambili ukuthi kukhona yini ukukhubazeka kowesifazane okhulelwe onomntwana onokukhubazeka kwe-chromosomal, namuhla kunombono wokuhlola, okwalokhu, ngeshwa, akuyona ingozi ngaso sonke isikhathi kowesifazane nengane yakhe yesikhathi esizayo.
I-Aminocentesis ibhekwa njengenye yezivivinyo ezinembile kakhulu zokunquma lesi sifo. Kuqhutshwa ngesisekelo sokuhlaziywa kohlobo oluthile oluzovela kulo mntwana. Amathuba okuthola imiphumela efanele - 99.8%.
I-chorionic biopsy ibhekisela ezinhlobonhlobo zocwaningo, uma ufaka izinsimbi esibelethweni sowesifazane okhulelwe ukuqoqa indaba ngesisekelo lapho umphumela uzoba khona. Ingozi yokungahambisani nesifundo esinjalo ingu-1%, kodwa isaphila.
Lezi zinhlobo zokuxilonga kufanele zisetshenziswe lapho omunye wabazali enesifo esine-syndrome.
Ezimweni ezivamile, abesifazane abakhulelwe banikwa ukuhlolwa, okuyinto yokuhlolwa kwegazi kanye ne-ultrasound. Imiphumela yalolu cwaningo ayikwazi ukusho ukuthi ingane yakho ngeke ibe nale syndrome, kodwa ikhombisa ukuthi kungenzeka kangakanani, uma inkulu, khona-ke ungasebenzisa amasu ahlaselayo.
Kukhona okuthiwa "ukuhlolwa kathathu", uma owesifazane okhulelwe enikeza ukuhlolwa kwegazi ngezinkomba ezintathu: i-chorionic gonadotropin, i-estriol yamahhala ne-alpha-fetoprotein. Kodwa njengoba ucwaningo lwamuva lukhonjisiwe, lokhu kuvivinywa kwezinto eziphilayo akubonakali ukugula kwe-fetus. Lokhu kuhlola kuyabiza kakhulu, ngakho-ke akutholakali kubo bonke abesifazane abakhulelwe.
Njengomkhuba wokubonisa, le ndlela yokuxilongwa ayikho inzuzo ngaphezu kwe- ultrasound evamile. Ngokuhlolwa okuvamile kodwa okujwayelekile, udokotela onolwazi angabonisa ukuthi i-fetus isifo esingakanani (kodwa ungakhohlwa ukuthi udokotela angakwazi ukunquma ukungaziphathi ngendlela evamile kuphela lapho izibonakaliso zamalungu ezitho zangasese sezivele zibonakala - lawa maviki angu-10-14 weli gama).
Indlela enokwethenjelwa kakhulu yokuthola i-chromosome eyengeziwe engane esanda kuzalwa ukuhlaziya igazi lomama okhulelwe (kuze kube amasonto angu-16) okuthiwa "ama-biochemical markers", lokhu kuhlaziywa uhlobo oluthile lweprotheyini. Njengoba owesifazane okhulelwe egazini lakhe enengxenye yamaseli omntwana ongakazalwa - lokhu kuhlaziywa ngamaphesenti ayikhulu. Ngenxa yendlela ekhethekile yokucwaninga ngezinto ezibonakalayo, le ndlela isetshenziselwa izikhungo zokuxilonga ngaphambi kokubeletha kuphela emadolobheni amakhulu amakhulu, njengeMoscow neSt. Petersburg. Ngenhlanhla, cishe kuwo wonke amadolobha aseRussia kukhona imitholampilo yezokwelapha, izinsizakalo lapho imibhangqwana ingathola khona ukuxilongwa futhi ithole noma yikuphi ukubikezela mayelana nezakhi zofuzo olungakazalwa.
Naphezu kokuthi izinto zangaphandle azithinti kakhulu ukwehlukana kwezakhi zofuzo ekuthuthukiseni ingane, kubalulekile ukuqinisekisa ukuthi owesifazane okhulelwe unokuthula nokunakekelwa okufanele kakade ezinyathelweni zokuqala zokukhulelwa. Ngeshwa, ezweni lethu konke kwenziwa ngokuphambene nalokho, iningi lomsebenzi cishe cishe kuze kube sekupheleni kokukhulelwa futhi uqale ukusebenza ndawonye nodokotela kuphela ngesikhathi sokubeletha, okuyiyona engalungile kakhulu. Njengoba kushiwo ngaphambili, ukusongelwa kokuzalwa komntwana wegciwane eligulayo kukhula nonyaka wesifazane, isibonelo, kubesifazane abaneminyaka engama-39 ubudala, amathuba okuba nengane enjalo ingu-1 kuya kwengu-80. Ngokwemininingwane yakamuva, amantombazane amancane asekhulelwe engakafiki eneminyaka engu-16, inani lamacala anjalo ezweni lakithi naseYurophu lonke liye landa kakhulu. Njengoba ucwaningo lwamuva lubonisa, abesifazane abathola ama-vitamin amaningi asezindaweni eziqala zokukhulelwa banamathuba aphansi kakhulu okuba nengane nganoma yisiphi isifo.
Uma ngabe kungenakwenzeka ukuqhuba izivivinyo ezibiza kakhulu futhi uthola ukuthi kungenzeka yini ukuthuthukisa le syndrome enganeni, ungabona kanjani lezi zimpawu ngemuva kokuzalwa kwengane? Ngokushesha ngemva kokuzalwa kwengane, ngokusho kwedatha yakhe yomzimba, udokotela anganquma ukuthi unesifo yini. Okuqala ukucabanga ukuthi lesi sifo ingane ingaba yizizathu ezilandelayo:
Ngokomphumela wokuhlola, uma ngabe kunendawo yokuhlala, futhi kwakukhona isithombe esingacacile mayelana nokutholakala kwe-pathology ye-fetus;
Ulwazi oluvela kumarekhodi wezokwelapha zababelethi - uma omunye wabo, noma amalungu omndeni, enza lokhu kuphambuka (leli qiniso kufanele lixwayise odokotela esibhedlela);
Ucwaningo lwengane nganoma yiziphi izinkinga zempilo
Ukuqinisekisa noma ukuphikisa ukuxilongwa kwezinsana kuthatha ukuhlolwa kwegazi, okubonisa ngokuqondile ukuthi kukhona okungavamile karyotype.
Ezinganeni, naphezu kwalokhu "izibonakaliso zokuqala", ukubonakaliswa kwesifo kungafiphazwa, kodwa ngemva kwesikhashana (ngenkathi imiphumela yokuhlolwa ilungiswa), umuntu angaqaphela ukuphambuka ngezibonakaliso eziningana zomzimba:
Okokuqala, lokhu "ubuso obunzima", oboniswe ngamacala angu-90%;
Ukwakhiwa kwesikhumba kugoqa entanyeni, engasiyo izingane ezingavamile - cishe u-80%;
Izitho ezincane;
Ukungavamile kwamazinyo;
Inhloko flat, kanye nobuso;
Umlomo ovulekile njalo, ngenxa yentuthuko engavamile yelungu;
I-strabismus encane (ingane ifana nommeleli womncintiswano wamaMongoloid);
Ibhuloho lekhala lephala
Ngeshwa, lezi akuzona zonke izimpawu zomzimba zalesi sifo. Esikhathini esilandelayo nangesikhathi sokuphila kwabo, laba bantu bahlukunyezwa ngokuzwa, ukubona, ukucabanga, ukuphazanyiswa komuthi wesisu, ukuphuza kwengqondo, njll. Namuhla, uma kuqhathaniswa nekhulu elidlule, ikusasa labantwana abane-Down's syndrome selibe ngcono kakhulu. Ngenxa yezikhungo ezikhethekile, izinhlelo ezikhethekile, futhi okubaluleke kakhulu ngenxa yokuthandana nokukhathalela, lezi zingane zihlala phakathi kwabantu abavamile futhi zikhule ngendlela evamile, kodwa lokhu kudinga umsebenzi omkhulu nokubekezela.
Uma uhlela umndeni, zama ukuthuthuka, uqhube yonke ucwaningo ngokwakho nomyeni wakho ukuze esikhathini esizayo ube nokuzalwa kwezinsana ezinempilo. Qaphela impilo yakho! Manje uyazi ukuthi i-Down syndrome ingaziwa ngokushesha ngemuva kokuzalwa kwengane.