Inkcazelo indlela kweqanda diagnosis (PGD): iimpawu kunye neziphumo

kweqanda indlela diagnosis lusetyenziswa ukuvavanya impilo ndiseyimbumba ezifunyenwe yi neqanda phambi umzila lwalo lweHo- zesibeleko. Le ndlela yenza kube lula nje kuphela ukukhetha ikamva sempilweni ukuze usana, kodwa kwandisa amathuba okuba ukhulelwe. Le ndlela lisetyenziswa kuzo zonke izibhedlele zehlabathi, ebandakanyekileyo in vitro.

imiba ngokubanzi

Kweqanda diagnosis ivumela uviwo enengqiqo kulawula ngaphandle phambi ezingaqhelekanga chromosomal ngokubanzi okanye naluphi na utyeshelo ethile. Kutshanje, ngaxeshanye kunye ekuqaleni izakhi imikhuba bamthwala yovavanyo ukuze bandiqumbise kukuvela yamathumba ebudaleni (maqanda, ikholoni, lwebele).

Kwimeko kwezifo genomic carrier biopsy koomama abambalwa iiseli iqanda polar ngaphambi kokuba ukumitha. Iindlela ezichazwe na enye indlela isigulo kwangethuba siswini ekuvumela ukuba alumkise nxamnye ukuphazanyiswa zokukhulelwa, ukuba kwimveku ngesiquphe kuya kuba isifo yemfuza.

Kweqanda diagnosis ivumela ukumisela besini umntwana sele kwinkqubo yokubahluza. Isetyenziswa iyaluthintela uphuhliso mgaqweni ezinxulumene kunye nesini.

Njengoko izifo genetic ilifa

Ukwahlula isifo ilifa ebangelwa, uhlobo lubalaseleyo sofuzo kwaye owakho X-ezinxulumene.

Ukuba bahlolwe?

Kweqanda diagnosis (PGD) olwenziweyo kwezi meko zilandelayo:

1. Ukubakho omnye okanye bobabini zibini kwezifo amafa okanye utshintsho karyotype. amaqabane ngokwabo badla ngokungazi iingxaki zabo, ubuncinane - azi ngenkqubo yokhuselo.
2. Wokufika kwezisu. Le ngxaki kunye mgaqweni ezifana akunguye inxalenye abazali (isenokungabi ke), kunye kwiDNA ezingekazalwa ezibangela izisu.
3. Age kwabantu inkqubo-IVF, kwiminyaka engaphezu kwama-38.
4. Kwama-3 akuphumelelanga kuzinzame vitro kwimbali.
5. nenzalo Male.
6. Ivula ICSI (isitofu sperm intracytoplasmic) e yezichumiso. Le nkqubo igcwele kuphuhliso ukungaqheleki yemfuza kule mbungu.
7. Amatyala adla hydatidiform kwimbali.

iimpawu PGA

Uphando endle kweqanda diagnosis zibonisa ukuba indlela unelungelo lokuba khona, ukuze gciwane nokunqanda ezingaqhelekanga chromosomal, nangona kunjalo, idinga ukuphuculwa.

Features PGD zimi ngolu hlobo lulandelayo:

• rate isisu sokuhluza ungaphantsi ngaphezu kwabo ngaphandle kwayo;
• ngalo mzuzu akukho bungqina bokuba amathuba ngokukhulelwa landa;
• kukho ithuba iziphumo bobuxoki: umbungu Inegative, yaye umphumo ubonisa ezinxaxhileyo umbungu uyagula kwaye uphando lubonisa ngenye indlela (5-10% amatyala).

Ndiqhuba kweqanda diagnosis (ukuhluza blastomeres)

Emva kokuba isivumelwano kwi in vitro uhlelo zokuzala kokukhulelwa ivavanya imfuneko PGD sibini. Ukuba kukho izikhokelo amaqabane singayamkela okanye inkunkuma le nkqubo. Okulandelayo ukuba alusayina olu xwebhu engqina imvume kuqhuba isaveyi.

Ngosuku lwesithathu emva kokukhulelwa imveku sezakhi uthatha omnye iiseli eyenziwe-blastomere ukwenzela uhlalutyo. Ekukholelwa ukuba umbungu lungenasiphumo, kuba zonke iiseli interchangeable.

Yingcali liqhuba uphando kwenye yeendawo ngaphambili ekhethiweyo: isifundo ngesakhiwo iseli ngemicroscope ekhethekileyo ezijiko-jiko, ukufundisisa DNA usebenzisa polymerase chain reaction ukufumanisa ubukho izakhi.

Ngokusekelwe kwiziphumo, imibungu ndinawo mgaqweni akayi kusetyenziswa ngexesha umzila. Khetha esempilweni kunye nomgangatho. Emva koko, omnye wabo okanye ngaphezulu zidluliselwa kwi em- nonina esibelekweni.

Ukuba umzimba polar iimviwo biopsy zofuzo kwenzeka unina. YoLungiso-sandi lweSihambisi kwenziwa kwimeko kumgca obhinqileyo lubonise ukuba ubukho bezifo zemfuza yabangela. Inkqubo ivumela ukumisela ukuba ingaba kweqanda esempilweni eziya kusetyenziswa ukuchumisa ngaphandle ngokwaphula isakhiwo sayo. Ukuba akukho mgaqweni ziyazibhaqekela, inokusetyenziswa ukuchumisa akufakwa isibeleko.

Kukho iimeko apho ukuhlolwa imizimba polar, kwaye ke blastomeres. Oku kukuvumela ukuba ufumane imiphumo ethembekileyo ngakumbi. Scheme apho siza kujongisiswa, ukhetha isazinzulu specialist.

iindlela ezisetyenzisiweyo

Izinto ezingaqhelekanga lwamanani kwaye noshowo zofuzo ugqibe hybridization ezibengezelayo. Le ndlela ikuvumela ukuba ukhankanye ukulandelelana DNA yeseli. Sebenzisa ixhokonxa DNA ekhethekileyo, ezo ngokokwakheka ukuzolula oluncedisanayo of mimandla DNA blastomere.

I-probe unalo sisincoko nucleotide kunye fluorophore (ekwaziyo molecule ye fluorescence). Emva kokuba intsebenziswano le DNA ekujoliswe kunye DNA uphenyo esikhanyayo iinxalenye kwakheka ajongwa phantsi ngemicroscope fluorescence.

Kwakhona, usebenzisa indlela PCR (polymerase chain reaction). Kuyinto ukukopa ummandla DNA usebenzisa enzyme kwiimeko ezithile elebhu.

isifo aneuploidy

Le yenye indlela kweqanda diagnosis, nto leyo evumela ukuba ukuchonga ubukho ezingaqhelekanga chromosomal wokwamanani (ukuchonga zofuzo ezongeziweyo okanye ezilahlekileyo).

Le zofuzo iqulathe zofuzo 46, isiqingatha enika uyise esinye isiqingatha - unina. Ukuba umbungu ufumana i chromosome engaphezulu, ibizwa ngokuba trisomy, kwaye nantoni na - monosomy. Ezi iziphene kungakhokelela ekubeni iziphumo:

• ukungabikho umbungu umzila;
• isisu kulogo;
• kwezimilo sofuzo (Down engqondweni, Klinefelter kaThixo, Turner).

Male nenzalo kunye nobudala izibini zizinto eziqhelekileyo kuphuhliso lwala makhwiniba.

ezimbi PGD monogenic

Kweqanda diagnosis ngeembumba ukufumanisa ubukho izifo monogenic owenziwa kwiintsapho apho yemfuza elisekwe ubukho okungahambi. Ukuba izibini sele unayo yayisakhasa sisifo bomzi, ithuba lokuba omnye umntwana ochaphazelekayo kwandisa izihlandlo eziliqela.

Unobangela kukuba kuphazamisa inqubo ethile chromosome kwinxenye DNA. Kwizifo ezinjalo iquka:

• abanesigulo esinganyangekiyo;
• syndrome adrenogenital;
• phenylketonuria;
• kubazali bakhe;
• cell anemia irhengqa,
• Wernig-Hoffmann syndrome.

Iinzuzo kunye nemingcipheko yale ndlela

Kweqanda Genetic Uxilongo, ncomo apho zithathwa ukuba ingacaci, kuneengenelo ezithile kummandla siswini:

• idluliselwa isibeleko kuphela ezikumgangatho ophezulu Amadlozi enempilo;
• Lunciphisa ubungozi yokuzalwa kosana kunye abaneziphene;
• isiqingatha kunciphisa ingozi kwesisu;
• isiqingatha kunciphisa ingozi multiple;
• 10% amathuba ukunyuka umbungu umzila;
• 20% yokwanda ithuba ukuzalwa ekhuselekileyo wosana.

Umngcipheko umonakalo ngengozi ndiseyimbumba xa PGA yi-1%. Amathuba ezakhayo lobuxoki - 1:10 Ukongeza, 3% yethuba ukuba umbungu nayiphi nemvelo yavavanywa siphilile.

Le kungenzeka ukuba umbungu sempilweni kuya kuba neziphumo zokutenxa - 1:10. Amathuba 1: 5, ukuhamiswa ngeembumba zibe lweHo- zesibeleko ziya kucinywa ngenxa ezingaqhelekanga ezifumaneka ngamnye kubo.

Izimo

Kweqanda diagnosis (PGD), iziphumo apho umbungu akachongwanga ncam, kukho inani Izimo ukuba:

• nombungu uqhekeko mkhulu kwe-30% (norm yi ukuyilwa iingceba ukuya kutsho kuma-25%);
• ukufumaneka blastomeres multicore kwi nombungu;
• umbungu blastomeres ngaphantsi kwe-6 ngosuku lwesithathu zophuhliso.

indlela yokhuseleko

Uxilongo kwenziwa kusekwangoko wokudala ikamva lomzimba, xa zonke iiseli yalo pluripotent, oko kukuthi, ngamnye unako ukwenza umzimba epheleleyo usempilweni.

Onke amanyathelo wenziwe PGD ayisetyenziswanga ngexesha ndiseyimbumba, engekazalwa kunye nosana elizayo. Emva kokuba isampuli ukulungiselela isifundo ifunyenwe, kulungiselwe ngendlela ekhethekileyo. Iiseli zabekwa slide iglasi, apho esisigxina, okanye umxube buffer.

Ixabiso le-nkqubo

Kweqanda diagnosis, iindleko zeziphi yahluka ukusuka engange-50 ukuya kwi-120 lamawaka, xa efika kuqala, kubonakala ukuxhaphaza eninzi. Noko ke, impilo kunye nokunyangwa umntwana makhwiniba zemfuza kumiselwa iya kuxabisa kakhulu ngakumbi.

Le nkqubo inika zonke izibonelelo abafazi baye bakwazi ukukhawula umntwana ngokwemvelo, ngenxa yokuba indlela diagnostic enjalo ayifumaneki. Kweqanda diagnosis, apho ixabiso le ngamandla xa kuthelekiswa naye neqanda, nguye kuphela kwiprogram ngokubanzi, nto leyo evumela nje kuphela ndithwale kuzala, kodwa ukukhulisa umntwana onempilo.