I-Down's syndrome yi-chromosomal pathology, i.e. xa ezalwa umntwana ufumana i-chromosome eyongezelelweyo, endaweni ye-46 evamile, umntwana unama-chromosomes angama-47. Leli gama elithi syndrome lithetha isethi nayiphi na impawu, iimpawu zobunjani. Le ngxaki yachazwa okokuqala ngugqirha waseNgilani uJohn Down ngo-1866, ngoko igama le sifo, nangona ugqirha engazange agule, njengokuba abaninzi bakholelwa ngephutha. Ngesihlandlo sokuqala, ugqirha waseNgesi wabonakalisa isifo njengesifo sengqondo. Ukusa kwi-1970, ngenxa yesi sizathu, eso sifo sasibophelelwe ubuhlanga. KwiJamani laseJamani, ngaloo ndlela, babatshabalalisa abantu abangaphantsi. Kwada kwada kwaphakathi kwekhulu lama-20, kwakukho iingcamango ezininzi zokubonakala kwalo mpukelo:
Ubuhlobo obunokwenzeka phakathi kokuzalwa komntwana okhubazekileyo kunye nomntwana oneminyaka yobudala (ngaphezulu kweminyaka engama-35);
I-syndrome ibonakalisa kuphela ukudibanisa okuthile kwezinto eziphilayo kunye nezifa;
Iyona ndlela ikude kakhulu kwiingqinisiso zenyaniso kukuba le syndrome ivela ngexinzelelo lokuzalwa.
Siyabulela ukufumanisa ubuchwepheshe be-modernism obuvumela ukuba izazinzulu zifunde i- karyotype (oko kukuthi, isethi ye-chromosome yeempawu ze-chromosome emzimbeni womzimba womntu), kwaba lula ukubonisa ubungqina be-chromosomes. Kwakuphela ngo-1959 ukuba i-geneticist evela eFransi, uJerome Lejeune, yabonisa ukuba le syndrome ibonakala ngenxa ye-trisomy ye-chromosome yesi-21 (oko kukuthi, ubukho bechromosome eyongezelelweyo kwisethi ye-chromosome yomzimba - umntwana ufumana i-chromosome engaphezulu kwe-21 kumama okanye uyise). Ngokuqhelekileyo, i-Down syndrome ivela kubantwana abanomama osele bekhulile ngokwaneleyo, kunye nakwiintsana ezinentsapho zabo ezineziganeko zesi sifo. Ngokweengcinga zanamhlanje, i-ecology kunye nezinye izinto zangaphandle akunakubangela ukuba ukuphambuka. Kwakhona, ngokucwaninga, utata womntwana oneminyaka engama-42 ubudala, kunokubangela i-syndrome kwintsana.
Ukuze ukwazi ukuba kusengaphambili ukuba kukho ukukhubazeka kumfazi okhulelwe onomntwana onokungaqhelekanga kwe-chromosomal, namhlanje kukho inani lokuxilonga, okwangelishwa, ngelanga, alisoloko limazi kumfazi kunye nexesha lakhe elizayo.
I-Aminocentesis ithathwa njengenye yeemvavanyo ezichanekileyo zokumisela le ntlupheko. Kuqhutyelwa ngesiseko sohlalutyo lomkhuhlane apho umntwana uza kukhula khona kamva. Isiphumo siphumo esifanelekileyo - 99.8%.
I-biopsy ye-Chorionic ibhekisela kwiindidi zophando, xa ufaka izixhobo kwisisu somfazi okhulelweyo ukuqokelela izinto ngokubhekiselele kuwo umphumo. Umngcipheko wokuphuphuma kwesisu kunye nezi zifundo zi-1%, kodwa kusekhona.
Ezi ntlobo zokuxilonga mazimele zisetyenziswe xa omnye wabazali enesifo esichaphazelekayo kwisifo esi nesifo.
Kwiimeko eziqhelekileyo, abasetyhini abakhulelweyo banikwa ukuhlolwa, oko kukuhlolwa kwegazi kunye ne-ultrasound. Iziphumo zolu cwaningo azikwazi ukuthetha ukuba umntwana wakho akayi kuba nale syndrome, kodwa abonisa ukuba kwenzeka ukuba kwenzeke, ukuba lukhulu, ngoko unokuthi usebenzise iindlela zokungahambi.
Kukho oko kuthiwa "ukuhlolwa kathathu", xa umfazi okhulelweyo enika ukuhlolwa kwegazi kwiimpawu ezintathu: i-chorionic gonadotropin, i-estriol yamahhala kunye ne-alpha-fetoprotein. Kodwa njengokuba uphando olutshanje lubonisile, olu vavanyo lwezinto eziphilayo alubonakalisi ukukhubazeka kwe-fetus. Olu vavanyo lubiza kakhulu, ngoko ke alufumaneki kubo bonke abafazi abakhulelweyo.
Njengoko uqeqesho lubonisa, le ndlela yokuxilonga ayikho inzuzo ngaphezu kwe- ultrasound evamile. Ngovavanyo oluqhelekileyo kodwa oluqhelekileyo lwe-ultrasound, ugqirha onolwazi unokubonakalisa i-pathology ye-fetus (kodwa ungakulibali ukuba ugqirha unokukwazi ukuphazamiseka kwizinto eziqhelekileyo kuphela xa iimpawu zezitho zomntwana zisele zibonakala - ezi ziiveki ezi-10-14 zekota).
Indlela enokuthenjelwa yokujonga i-chromosome eyongezelelweyo kwintsana ekhulelweyo kukuhlalutya igazi le-bhinqa elikhulelweyo (ukuya kwiiveki ezili-16) ngenxa yoko kuthiwa "abamakishi bezinto eziphilayo", oku kukuhlalutya uhlobo oluthile lweprotheni. Ekubeni umfazi okhulelwe egazini lakhe unesabelo seeseli zomntwana ongakazalwa - olu hlalutyo likhulu leepesenti. Ngenxa yendlela ekhethekileyo yophando lwezinto eziphathekayo, le ndlela isetyenziselwa kumaziko okuxilonga ngaphambi kokubeletha kuphela kwezinye iidolophu ezinkulu, njengeMoscow neSt. Petersburg. Ngethamsanqa, phantse kuzo zonke iidolophu zaseRashiya kukho iikliniki zonyango zonyango, iinkonzo apho izibini zifumana ukuxilongwa kwaye zifumanise naziphi na izibikezelo malunga nokuzalwa komntwana ongakazalwa.
Nangona ukuba izinto zangaphandle azichaphazeli kakhulu iimpazamo zofuzo ekuveliseni umntwana, kubalulekile ukuqinisekisa ukuba umfazi okhulelweyo unokulondolozwa nokunyamekela ngokufanelekileyo kwiimeko zokuqala zokukhulelwa. Ngelishwa, kwilizwe lethu yonke into yenziwa ngokuphambene nanjalo, uninzi umsebenzi ukususela ekupheleni kokukhulelwa kwaye uqale ukusebenza kunye noogqirha kuphela ngelikhefu lokubeleka, elona libi kakhulu. Njengoko kushiwo ngaphambili, isongelo sokuzalwa komntwana ngengxaki yokugula ikhula kunye nobudala bomfazi, umzekelo, kumabhinqa aneminyaka engama-39 ubudala, amathuba okuba umntwana onjalo u-1 ukuya kuma-80. Ngokweenkcukacha zakutshanje, amantombazana amantombazana akhulelwe phambi kweminyaka eyi-16, inani laloo matyala kwilizwe lethu naseYurophu ngokubanzi liye landa kakhulu. Njengoko uphando lwangoku nje lubonisa, abafazi abafumana ii-vitamin ezahlukeneyo eziseziqhelweni zokuqala zokukhulelwa banakho amathuba okuba banomntwana kunye naluphi na uhlobo lokugula.
Ukuba kunjalo kwakungenakwenzeka ukuqhuba iimvavanyo ezibizayo kwaye ufumane ngokumalunga nokuvelisa le syndrome kwintsana, ungayibona njani le miqondiso emva kokuzalwa komntwana? Ngokukhawuleza emva kokuzalwa komntwana, ngokwempawu yakhe yomzimba, ugqirha unokukwazi ukuba unesi sifo. Ukuqala ukucinga ukuba esi sifo ngumntwana sinokubakho kwezi zinto zilandelayo:
Ngokutsho kweziphumo zokujonga, ukuba bekukho indawo, kwaye kwakukho umfanekiso ongacacileyo malunga nokufunyanwa kwe-pathology ye-fetus;
Ulwazi oluvela kwiirekhodi zonyango zabazali - ukuba nabani na, okanye amalungu omndeni, analo ukuphambuka (le nyaniso kufanele iwazise oogqirha esibhedlele);
Uphononongo lomntwana nayiphi na ingxaki zempilo
Ukuqinisekisa okanye ukuphikisa ukuxilongwa kwiintsana kuthatha uvavanyo lwegazi, olubonisa ngokuchanekileyo ubukho bezinto ezingaqhelekanga kwikaryotype.
Kwiintsana, nangona ezi "zibonakaliso zokuqala", ukubonakaliswa kwesi sifo kunokuphazamiseka, kodwa emva kwexeshana (ngelixa iziphumo zovavanyo zilungiselelwa), umntu unokukwazi ukuphazamiseka kwiimpawu ezithile zomzimba:
Okokuqala, lo "ubuso obunqabileyo", oboniswe kwiimeko ezingama-90%;
Ukubunjwa kwesikhumba kwintanyeni, engabonakaliyo kwiintsana eziqhelekileyo-malunga ne-80%;
Izitho ezincinane;
Ukungaqhelekanga kwamazinyo;
Intloko yentloko, kunye nobuso;
Umlomo uvula umlomo, ngenxa yokuphuhliswa okungavumelekanga kwentlungu;
I-strabismus encinane (umntwana ufana nommeleli we-Mongoloid);
Ibhuloho yempumlo yepum
Ngelishwa, oku akuzona zonke izibonakaliso zomzimba zesi sifo. Kwixesha elizayo kunye nobomi babo, aba bantu bayaxhatshazwa ngokuva, ukubona, ukucinga, ukuphazamiseka kwendlela yokuxhamla isisu, ukulibala kwengqondo, njl njl. Namhlanje, xa kuthelekiswa nekhulu leminyaka elidlulileyo, ikamva labantwana abane-Down's syndrome sele libhetele ngakumbi. Ndiyabulela kumaziko akhethekileyo, iinkqubo ezicwangcisiweyo ngokukhethekileyo, kwaye kubaluleke kakhulu ukubonga ngothando nokunyamekela, aba bantwana banokuhlala phakathi kwabantu abaqhelekileyo kunye nokuphuhlisa ngokuqhelekileyo, kodwa oku kufuna umsebenzi omkhulu kunye nomonde.
Ukuba ucwangcisa intsapho, zama ukuqhubela phambili, uqhube uphando lwakho kunye nomyeni wakho ukuze uzalise abantwana abanobubele kwikamva. Unakekele impilo yakho! Ngoku uyazi ukuba i-Down syndrome ingabonwa ngokukhawuleza emva kokuzalwa komntwana.