Wasiqwalasela Genetic at lokukhulelwa lwezicwangciso: inkcazo, iimpawu kunye neziphakamiso

Ukucwangcisela zizale usapho mihla ukungena nzulu ngokugqibeleleyo. Ukulungiselela ekufunyanweni iwonga ubalulekileyo kunye noxanduva ebomini - kumzali - zifuna indlela kakhulu kangaka. Kakade ke, sithetha malunga impilo yoomama elizayo kunye nooyise. Ukuqonda lo mbuzo kuya kusinceda uxilongo ebanzi lonyango, leyo ngokuyimfuneko iquka cazululo yemfuza.

Xa becwangcisa isifundo ukukhulelwa ngenxa adele ndingabathumanga kuphela abafazi, nto leyo kutsha nje kwixa elidlulileyo, oogqirha, warhana, ebizwa ngokuba "starorodyaschimi". Namhlanje, izazinzulu kwinkalo zobunjineli yemfuza , weyiseka ukuba unesifo onjalo kufuneka uthathe yabasetyhini abangaphezulu kweminyaka eyi-25 ubudala.

Iimvavanyo Basic yemfuza ukuba abasetyhini abakhulelweyo

Ngexesha sokukhulelwa kubaluleke kakhulu ukulawula lactogen placental. Uhlalutyo Genetic xa ukhulelwe uceba sikwazi ukuqinisekisa izinga layo - ukuba imisela amathuba isisu zidityaniswe, uphuhliso olusa phambili ukukhulelwa, kwakunye ezingentle ngenxa ukungondleki olungekazalwa okanye sekupheleni ngokupheleleyo.

Enye into ebalulekileyo inkcazo chorionic gonadotropin kwabantu. Inqanaba kwale hormone ukufumanisa ukukhulelwa kule mihla kangangoko kunokwenzeka. Ezo yemfuza analysis xa uceba ukukhulelwa (ixabiso bekungenjalo abakhulu esichengeni impilo yabo kunye nobomi kwiimvuthuluka) iqhutywa kwi serum egazini.

Iziphumo zolu phononongo ziza kunceda obstetrician-ugqirha ukufumana phandle i iqondo nokoyikiswa nokupheliswa ukukhulelwa, kwaye linokuba okulindelekileyo yeengxaki esibelekweni.

Indima yemfuza kukhulelwa ekucwangciseni umsebenzi

wasiqwalasela Genetic e uceba ukukhulelwa ziquka ezinye izifundo ukuze kuhlolwe ngokwaneleyo iingozi ezimbi ezahlukahlukeneyo ukuze ukususela kwixesha akhulelwe ukuyilwa umbungu kuvuka. Iindleko phando kudla xihinga kuphela indima yabo, kodwa iinzuzo, leyo basityathe nabo, babebiza imali phantse akunakwenzeka.

Lo mbuzo eziluncedo ngayo umntwana elizayo kuphela unina wathwala kweenyanga ezisithoba phantsi entliziyweni yakhe. Zizifo sofuzo nabanezinto ezingaqhelekanga siswini, kubonakala ukukhanya kwi-avareji wonke umntwana yama-20. Okubuhlungu kukuba, ukuba inshorensi inzala yabo elizayo ekufumaneni naziphi na iziphene okungakwazi esinye isibini. Yazisa ukutenxa kwindlela ethile kwisisele DNA kwinqanaba priori engenakwenzeka. Ukongeza, ingxaki kukuba olwenziwa uhlalutyo yemfuza igazi ngexesha ucwangciso lokukhulelwa, ibonisa iziphumo ezamkelekileyo, maxa wambi akusosiqinisekiso okuhle: ngenene ingenzeka kohlo- ezintsha intsholongwane iiseli lwabazali, kuquka ubungozi yokuqhubela phambili yemfuza zesiqhelo kwi zophendlo lwezifo , isoloko.

Ngubani ayihlangule uhlahlelo yemfuza kwindawo yokuqala?

Izinto eziluncedo ezifika yemfuza unyango neengcebiso kunye nobuchule siswini diagnostic inceda ukucwangcisa ukukhulelwa kunye nokuthintela yokuzalwa kosana kunye ezimbi esinganyangekiyo.

Hayi iintsapho abaselula abaninzi abaphupha babe abazali kufutshane elizayo bayazi ukuba kuhlalutyo genetic xa uceba ukukhulelwa kufuneka uhambe. Ukongeza, amaqela athile abantu kufuneka ukuba bahlolwe kakuhle phambi kokuba lokukhulelwa inyanzelekile. Ezi ndidi ziquka amadoda nabafazi ngomngcipheko yemfuza, ezizezi:

• izibini, apho kukho imbali ubuncinane omnye wabalingane thaca sigula kakhulu ekhaya;
• omnye wabalingane, kwimbali umthi wokuzalwa apho ebekhona uLazaro amatyala ndawo ombulo;
• abafazi izisu, wazala iintsana abafileyo okanye abe une "nenzalo" ngaphandle ogulayo asekelwe;
• abazali ne radiation, iikhemikhali eziyingozi;
• Abasetyhini kunye namadoda walidla utywala ngexesha kwesisu okanye idosi eteratogenic iindlela ezinokuthi ezinokuba zibangele malformation Palsy.

Sesikolweni xa engakanani ngobudala kuvavanywa kufuneka ukuba ezingaqhelekanga chromosomal?

Yimalini wenza uhlalutyo yemfuza xa uceba ukukhulelwa, yaye amabhinqa azi ngaphantsi kwe-18, yaye uneminyaka engama-35, kunye namadoda, akuba awela umbundu kunyaka-40 ubudala. Njengoko sele kukhankanyiwe, umngcipheko yemfuza ezilawula imfuza ngamnye kunye DNA iiseli nokunyuka an progression yokalo emileyo nyaka ngamnye.

Phosela ngokuhlahlela genetic xa uceba ukukhulelwa mababe zonke izibini, ngaphandle kokukhetha.

Ukuza kuthi ga ngoku, inani elikhulu kwezifo ilifa, ezosulela kwizizukulwana ngezizukulwana - esona sizathu siphambili sokuba ukuya nge isifundo bonke izibini eziselula, ngaphandle kokukhetha. Ukongeza, imfuza mihla ngaphandle ko ngonyaka kuqhubeka ukuvulwa ngakumbi izifo ezininzi ezintsha.

uvavanyo Genetic - inyathelo elibalulekileyo kucwangciso yokukhulelwa

Ngokuqhelekileyo, olunikiweyo umzimba abazali zonke zofuzo bayakwazi ukuba ukuguquka, akunakwenzeka. Nam Uhlalutyo genetic xa uceba ukukhulelwa akanako ukunika isiqinisekiso ngokupheleleyo ukuba izibini ethile ozelwe baby ngokupheleleyo ngaphandle ukungaqheleki njengelifa. Okwangoku, ukucacisa neqondo lomngcipheko ibalulekile theory kunye nokulungiselela eyiyo yokukhulelwa.

Ngenxa yoko, abazali okunokwenzeka wacela uncedo kwi-Medical Genetics Centre. Njengoko iingcali liya kuqhuba uphando, yaye naziphi na ngokuhlahlela genetic xa uceba ukukhulelwa kufuneka badlule inyanzelekile? Ukufuna ukwazi kuya kunceda kudibana abaninzi esekelwa.

Amanqaku abalulekileyo zemfuza oogqirha

Isigaba sokuqala saveyi - genetic counselling lwengcali, apho ugqirha uhlolisisa ngocoselelo kwaye ngeenkcukacha ingakumbi Tari_pedigree usapho lomzali ngamnye ezinokwenzeka. ingqalelo eyodwa bafanelwe zemfuza zonyango ubungozi ophezulu kusana olungekazalwa. Zezi:

• izifo yemfuza umama kunye notata ezingapheliyo;
• amachiza asetyenziswa abazoba abazali;
• iimeko kunye nomgangatho wobomi, iimeko abaphila;
• zasemsebenzini ethile;
• sezulu kunye nemiba yokusingqongileyo kunye t. d.

Isimanga, kodwa indima ebalulekileyo imfuza na iimpendulo ezifanayo, lonke igazi nomchamo iimvavanyo njengesiqhelo, isiphelo ezinye iingcali emxinwa (endocrinologist, luvo, njalo njalo. D.). Amaxesha amaninzi, iingcaphephe amisele izibini isifo karyotype. Ukumisela inani nomgangatho zofuzo oomama abatsha abazali zibaluleke kakhulu kwimeko kwemitshato ombulo, ukukhulelwa ezininzi, kwesisu, ukuba ukufumanisa, kodwa ukungachumi kwesizathu.

Yimalini uvavanyo lwemfuzo?

Iindleko Uhlalutyo yemfuza, uceba ukukhulelwa, ebizwa ngokuba "typing lolu phando" ezahlukeneyo Moscow Medical Genetics Centre isusela ukususela 5000 ukuya 9000 engange, ngokuxhomekeke Ububanzi phando ukuthambekela ezimbi.

isifundo baya kuya kunceda ugqirha-yemfuza ukuba izigqibo njongo malunga okuba sesichengeni izinto ezingalunganga. wasiqwalasela Genetic yokuplana ukumitha kwakho kuya kuvumela ukwenza ngamnye, ukuqikelela ngokuchanekileyo ngokwentelekiso karhulumente elizayo yempilo kuhlala. Kuyinto isifundo olu hlobo kuya kunceda ukuxelela kumngcipheko uNksz izifo ilifa ethile yomntwana. Ugqirha anganika amacebiso aluncedo, kufuneka ibe sisiseko ezitshatileyo, amaphupha yokuba umzali ezele toddler esempilweni.

Imingcipheko yokuzalwa abantwana abagulayo zemfuza

Ukongeza, xabiso lazo elo kugqiba umngcipheko phambi yofuzo ethile, sanikwa uhlalutyo zonke. izifo kwezakhi uceba ukukhulelwa, okanye mandithi ngenene ingenzeka yabo kwiimvuthuluka elizayo, zilinganiswe njengepesenti:

1. Xa ingozi ephantsi (10%) kubazali bakhathazeke ngayo. Zonke analyses zibonisa ukuba wazalwa qete konke oku zibini makayoyike umntwana.
2. Nge-avareji (10 ku-20%), ingozi iba nkulu, kwaye kungenzeka wokuzalwa yomguli ngayo umntwana cishe ulingana amathuba kokuzalwa komntwana ngokupheleleyo. Le ukumitha kwakho kuya kukhatshwa esweni ngenyameko siswini lokuzala mfazi: ultrasound rhoqo, chorionic villus isampuli.
3. Basengozini enkulu (20%) oogqirha baya iingcebiso izibini ukuba ayeke edalwa ukuthintela ukukhulelwa. Amathuba okuba usana uya kuzalelwa sisifo yemfuza, ithuba eliphezulu ukubonakala umntwana onempilo kuzalwa. Njengoko enye kule meko iingcali inganikeza isibini ukusebenzisa amaqanda mali okanye amadlozi, ngokungqinelana nenkqubo-IVF.

Uphando ukukhulelwa ekuqaleni

Lithemba abazali kuyo nayiphi na imeko ukuba kulungile. Amathuba okuba nosana olunempilo ngokupheleleyo nokuba basemngciphekweni omkhulu. Ukuze uqonde into lunika uhlalutyo yemfuza xa uceba ukukhulelwa, kufuneka sinikele ingqalelo elebhu diagnostic amanyathelo malformations kwiikota zokuqala.

Phantse ukususela ekuqaleni lo kudala lilindelwe abazali abaninzi ukukhulelwa anokufunyanwa, kwaye ukuba yonke into ILUNGILE kunye neziqhamo? Fumanisa ukuba kukho nasiphi na isifo genetic ilifa phakathi kosana inokuba Esibelekweni.

Iindlela ngokuba diagnosis yokukhulelwa

Oogqirha bayakwazi ukusebenzisa ezininzi iindlela kunye neendlela uxilongo kwinjongo umfazi omithiyo olungekazalwa. Eneneni, ubukho iziphene kunye ukungaqheleki zophuhliso kunokubonwa elide phambi kokuba umntwana azalwe. Qho ngonyaka ukuqhubela phambili izixhobo ultrasound kunye nophando elabhoratri ukuchaneka amathuba kwanda. Ukongeza, oogqirha kuqala iindlela zokuxilonga ezifana ukuhlolwa kule minyaka imbalwa idlulileyo. Kuyinto uphando unyulo 'omkhulu'. Screening inyanzelekile kubo bonke abasetyhini abakhulelweyo.

Ukuba kunikelwe yemfuza ihlaziya kuyimfuneko ukuba bonke!

Kutheni kuyimfuneko ukuba iimvavanyo yemfuza, nkqu abo basengozini? Impendulo yalo mbuzo ngenxa manani yedanisayo. Ngokomzekelo, abantwana abazelwe Down syndrome koomama abangaphezu kweminyaka engama-35, isiqingatha kuphela. Phakathi isiqingatha eliseleyo abafazi zokubeleka eninzi yabafazi abatsha abangazange zafikelela engama-25 ubudala. Xa abafazi abaye baba oomama babantwana kunye ezingaqhelekanga, chromosomal, 3% kuphela waba isithuba kwi-ANC ikhadi lokuzalwa iintsana zangaphambili kunye sifo. Oko kukuthi, akukho mathandabuzo sisifo yemfuza - ayikho ngenxa yobudala yabazali.

Kuphephe abapasa uvavanyo ekufumanekeni ezingaqhelekanga chromosomal kwi kwimveku okanye ukuthambekela ukuphazamiseka yemfuza kwixa elizayo, kodwa yamitha kufuneka ibe usana. Ukumisela ubukho nasiphi na isifo kusekwangoko yophuhliso babo - ngoko ngaphambi ngezifo. Ngenxa amathuba zezonyango namhlanje, ukuba wenze njengenyathelo kwiimvuthuluka elide-elindelwe kungaba okungalungile kwaye kukungakhathali kuye.