Incazelo indlela preimplantation uphethwe zofuzo diagnosis (PGD): izici kanye nemithelela

preimplantation uphethwe zofuzo indlela isetshenziselwa ukuhlola ukufaneleka umbungu etholwe kwesibeletho fertilization phambi yenzeka lwalo ingaphakathi lesizalo. Indlela kwenza kube nokwenzeka hhayi kuphela ukukhetha esizayo okunempilo umntwana, kodwa futhi kwandiswe amathuba okukhulelwa. Le nqubo ibizwa kabanzi kuzo zonke izibhedlela zomhlaba, ezihilelekile ekukhulelweni ngaphandle kwesibeletho.

imiqondo Jikelele

Preimplantation uphethwe zofuzo ivumela kuhlolisiswe oluphelele futhi siqambe khona chromosomal kwezinso nje ngomqondo ovamile noma iyiphi ngeziphambeko owodwa othile. Muva nje, ngo-parallel ekuseni izakhi zofuzo imikhuba emibi eyenziwa Ukuhlolwa okungase ukuyithukuthelisa nesenzakalo izimila lapho isikhulile (esibelethweni, ikholoni, webele).

Endabeni yenethiwekhi izifo ocwaningweni biopsy komama wenziwa polar Iqanda amaseli eziningana ngisho phambi impregnation. Izindlela echazwe kukhona esikhundleni ekuqaleni ukuxilongwa kokubeletha evumela ukuba baxwayise kokuphazamiseka yokukhulelwa, uma ingane ekhulayo ngokuzumayo kuyodingeka isifo esidluliselwa ngofuzo.

Preimplantation uphethwe zofuzo ivumela ukucacisa ubulili umntwana kakade inqubo Ukuhlolwa. Isetshenziselwa ukuvimbela ukuthuthukiswa anomalies exhumene ne ubulili.

Njengoba izifo zofuzo umuntu ngofuzo

Hlukanisa esiwufuzo okubangwa, uhlobo esikhubazayo futhi X-exhumene evelele.

Ukuba bahlolwe?

Preimplantation uphethwe zofuzo diagnosis (PGD) wenziwa kulezi zimo ezilandelayo:

1. Ukuba khona esisodwa noma zombili imibhangqwana izifo lezinceku noma izinguquko karyotype. abalingani ngokwabo zinokungazi zezinkinga zazo, okungenani - ukwazi enqubeni ukuhlolwa.
2. Komkhuba yisisu. Inkinga nge anomalies enjalo ayiqali ukuba ingxenye abazali (zingafaneleki), futhi ukuguquka kwezakhi zofuzo-fetus zofuzo ezibangela izisu.
3. Ubudala lwabantu ababhekene Uhlelo IVF, eminyakeni engaphezu kwengu-38.
4. Over 3 akuphumelelanga ngaphandle kwesibeletho imizamo kokukhulelwa emlandweni.
5. ukungazali Owesilisa.
6. Ukuvula ICSI (intracytoplasmic isidoda umjovo) ohlelweni kokukhulelwa. Inqubo igcwele ukuthuthukiswa kwezinso sofuzo i-embryo.
7. Amacala imvukuzane hydatidiform emlandweni.

Izici PGA

Nokho, ucwaningo emkhakheni preimplantation uphethwe zofuzo abonisa ukuthi indlela unalo ilungelo lokuthatha khona, ukuze usize ekutholweni futhi kuvimbele kwezinso chromosomal, kudinga ukwenzangcono.

Izici PGD zimi kanje:

• Izinga yisisu ngoba Ukuhlolwa ingaphansi kwe labo ngaphandle kwalo;
• okwamanje abukho ubufakazi ukuthi okuba abakhulelwe owandiswayo;
• kukhona kungenzeka imiphumela eyiphutha: umbungu Negative, futhi umphumela ebonisa ngeziphambeko umbungu iyagula futhi ucwaningo lubonisa okuhlukile (5-10% of amacala).

Ukuqhuba preimplantation uphethwe zofuzo (screening blastomeres)

Emva kwesivumelwano phezu kwesibeletho fertilization uhlelo zokuzala ihlola isidingo PGD ambalwa. Uma kunezinkomba zokuthi abalingani angamukela noma nginqabe inqubo. Eceleni asayinde eqinisekisa imvume ukuqhuba inhlolovo.

Ngosuku lwesithathu emva kokukhulelwa umbungu zofuzo kuthatha kwesinye sezitokisi elakhiwe-blastomere ahlolwe. Kukholakala ukuthi i-fetus is akunamthelela, ngoba zonke namangqamuzana nezilandiso.

Lo chwepheshe uqhuba ucwaningo ku yezindawo ngaphambilini: ekutadisheni isakhiwo cell ngesibonakhulu ekhethekile Fluorescent, ukutadisha DNA usebenzisa polymerase chain reaction ukucacisa khona ukuguquka kwezakhi zofuzo.

Ngokusekelwe yalokho, imibungu kokuba anomalies ngeke sisetshenziswe phakathi yenzeka. Khetha enempilo futhi izinga. Ngokulandelayo, omunye wabo noma ngaphezulu zidluliselwa ku ngalo ingaphakathi kukamama kwesibeletho.

Uma umzimba polar biopsy luhlolo wama-chromosomes kwenzeka kumama. Isilawuli Samandla kwenziwa esimweni emgqeni zesifazane lwembula ukuba khona izifo zofuzo kubangelwa. Inqubo ivumela ukunquma ukuthi oocyte enempilo ezizosetshenziselwa ukuvundisa ngaphandle kokuphula oyiyo. Uma kungekho anomalies kutholwa, ingasetshenziswa ukuvundisa uthumele esibelethweni.

Kukhona amacala lapho ukuhlolwa emizimbeni polar, bese blastomeres. Lokhu kuvumela ukuthola imiphumela eziqinile. Isikimu lapho zizohlungwa, ekhetha isazi sezakhi zofuzo onguchwepheshe.

ezisetshenzisiwe

I kwezinso zezinombolo takhi wama-chromosomes yokuthumela inqunywe hybridization Fluorescent. Le ndlela ikuvumela ukuba ucacise ukulandelana DNA yengqamuzana. Sebenzisa ekhethekile iphenya DNA, okuyizinto ikhipha elula ayahambelana DNA blastomere esishintshashintshayo.

Uphenyo has a Ukwakheka nucleotide futhi fluorophore (i-molecule uyakwazi fluorescence). Ngemva kokuhlanganyela DNA target DNA Uphenyo esikhanyayo izingxenye akhiwa ngokuvamisile abukwa ngesibonakhulu fluorescence.

Futhi, usebenzisa indlela ye -PCR (polymerase chain reaction). Kuyinto ukukopisha esifundeni DNA usebenzisa enzyme ezimweni ezithile laboratory.

ukuxilongwa aneuploidy

Lena ngenye indlela preimplantation uphethwe yofuzo, okusho ivumela ukuhlonza khona zezinombolo chromosomal kwezinso (ukuhlonza Ama-chromosomes e xaxa noma ezingekho).

Izinhlayiya eziyisisekelo zofuzo siqukethe 46 Ama-chromosomes e, kwesigamu onikeza uyise kanti enye ingxenye - unina. Uma i-embryo ithola -chromosome eyengeziwe, ibizwa ngokuthi trisomy, futhi ukulahlekelwa yinoma yimuphi - monosomy. Lezi ukukhubazeka kungaholela imiphumela:

• yokuntuleka umbungu yenzeka;
• isisu nokuguqulwa;
• zokugula lezinceku (Down Syndrome, Klinefelter sika, Turner).

Owesilisa ukungazali kanye nobudala imibhangqwana izici ezivamile ukuthuthukiswa yalezi kwezinso.

pathologies PGD monogenic

Imiphumela yaloku kuhlola okungenhla Preimplantation zofuzo zemibungu ukucacisa khona izifo monogenic eyenziwa emikhayeni zofuzo wasungula khona anomalies. Uma imibhangqwana kakade unayo encane ngesifo eyohlobo, ithuba ukuba babe nengane yesibili ethintekile kwandisa izikhathi eziningana.

Imbangela kuyinto ukuphazamiseka chromosome inqubo ethile engxenyeni DNA. Ukuze izifo zibala:

• cystic fibrosis;
• syndrome adrenogenital;
• phenylketonuria;
• hemophilia;
• isikela cell anemia;
• Wernig-Hoffmann syndrome.

Izinzuzo nezingozi indlela

Preimplantation bofuzo Sifo, ukubuyekezwa zazo abhekwa edidayo, kunezinzuzo ezithile emkhakheni ukuhlolwa ngaphambi kokuba umuntu azalwe:

• adluliselwe ku esibelethweni kuphela eliphezulu futhi imibungu enempilo;
• It kunciphisa ingozi ukuzalwa komntwana ne ukukhubazeka kwezakhi zofuzo;
• isigamu kunciphisa ingozi kwesisu;
• isigamu kunciphisa ingozi amaningi;
• 10% amathuba umbungu yenzeka inyuka;
• 20% anda ithuba ukuba babelethe ephephile umntwana.

Ingozi umonakalo ngephutha ku-embryo lapho PGA 1%. Amathuba okungelona iqiniso - 1:10, ngaphezu, 3% of the kungenzeka ukuthi i-embryo iyiphi kwakuphambene nemvelo esikalini njengoba enempilo.

Ematfuba ukuthi bungu enempilo kuyodingeka imiphumela ukuphambuka - 1:10. Ithuba 1: 5, ukuthi ukudluliswa zemibungu phakathi komgodi lesizalo izokhanselwa ngenxa kwezinso ezitholakala ngamunye wabo.

Izimo

Preimplantation uphethwe zofuzo diagnosis (PGD), imiphumela embungwini akuyona ncamashi ezikhonjwe, enezinto eziningi contraindications:

• umbungu nokwehlukaniswa okukhulu kuka-30% (kuyinsakavukela Ukwakheka kwezitho izinsalela ngu-25%);
• ukutholakala multicore blastomeres e-embryo;
• umbungu has esingaphansi 6 blastomeres ngosuku lwesithathu yentuthuko.

indlela Ezokuphepha

Ukuxilongwa kwenziwa ngendlela efanele usaqala yokudala ikusasa umzimba, lapho wonke amaseli kwakhona pluripotent, okungukuthi, ngayinye ungakheka indikimba ephelele okunempilo.

Zonke izinyathelo kwenziwe PGD akuyona isicelo ngesikhathi umbungu, fetus umntwana esikhathini esizayo. Ngemva isampula isifundo etholwe, okulungiselelwa ngendlela ekhethekile. Amaseli zafakwa-slide ingilazi, lapho benzelwe, noma isixazululo sesikhana.

Lokho okwakudingeka ukuze kukhokhwe inqubo

Preimplantation uphethwe zofuzo, izindleko zazo kuhluka ruble angu-50 kuya kwezingu-120, Uma unganakile, kubonakala zokukhwabanisa ezibizayo. Nokho, impilo kanye nokwelashwa ingane nge kwezinso kunqunywa zofuzo izobiza okuningi.

Inqubo unika zonke izinzuzo kwabesifazane abanezingane baye bakwazi ukuba akhulelwe ingane ngokwemvelo, ngoba kukhona indlela zokuxilonga enjalo ayitholakali. Preimplantation uphethwe yofuzo, okusho intengo mancane uma eqhathaniswa naye ngaphandle kwesibeletho fertilization, iyona kwalokho kuphela uhlelo jikelele, okuvumela hhayi kuphela ukuba baphathe futhi abelethe, kodwa futhi ukuze ikhule ingane ephile saka.