Whakaahuatanga o te tikanga o te preimplantation tātaritanga ira (PGD): āhuatanga me ngā pānga

whakamahia preimplantation tikanga tātaritanga ira te ki te aromatawai i te hauora o te kukune whiwhi e i roto i vitro kikiritanga te aroaro o tona implantation ki te kōhao uterine. hanga te tikanga taea reira e kore anake ki te whiriwhiri i te heke mai hauora mo te tamaiti, engari neke ake ano te tupono o te hapūtanga. Kei te whānui whakamahia te tikanga i roto i ngā hōhipera katoa o te ao, whai wāhi i roto i te kikiritanga vitro.

ariā General

Preimplantation tātaritanga ira taea hoki te whakamātautau whānui, me te whakahaere tikanga i roto i te aroaro o abnormalities pūira i roto i te whānui tetahi kotahi ine motuhake ranei. Aita i maoro a'e, i roto i te whakarara ki te ira wawe i naia kawea āta e kia whakapataritari i te takanga o te pukupuku i roto i te pakeketanga (kura kākano, kopirua, uma).

I roto i te take o te kawe mate genomic i mahi unuhanga whaea e rave rahi pūtau hua neke noa i mua i te impregnation. Ko te tikanga whakaahuatia e he rerekē ki te tīmatanga o tātaritanga prenatal e taea ki te whakatupato ki arumanga o hapūtanga, ki te te kukune ohorere ka whai i te mate ira.

Preimplantation tātaritanga ira taea ki te whakatau i te takoto o te tamaiti kua i roto i te tukanga o te āta. Kei te whakamahia te reira ki te ārai i te whanaketanga o kōhikohiko hono ki te ira tangata.

Ka rite ki riro mate ira

Wehewehe mate tuku meinga e te, momo ngoikore, me te X-hono tino.

Hei te hipoki?

whakamana Preimplantation tātaritanga ira (PGD) i roto i te wā e whai ake nei:

1. Ko te aroaro o tetahi ranei e rua o nga faaipoipo o mate tuku huringa karyotype ranei. E maha mōhio o ratou raruraru hoa ratou, i te iti rawa - mohio i roto i te tukanga āta.
2. Ritenga materoto. Ko te raruraru ki taua kōhikohiko e kore e te wahi o nga matua (e kore ai ratou e), me fetal irakētanga ira e meinga mâtutuhia.
3. Age o tangata pangia hōtaka IVF, neke atu i te 38 tau.
4. Neke atu i te 3 tutuki i roto i ngā nganatanga kikiritanga vitro i roto i te hītori.
5. pākoko toa.
6. Tahuri ICSI (intracytoplasmic werohanga parāoa) i roto i te hōtaka te kikiritanga. Ko mahi wehe ki te whanaketanga o abnormalities ira i roto i te ira te tukanga.
7. Kēhi o kamiriona hydatidiform i roto i te hītori.

āhuatanga PGA

Rangahau i te mara o te preimplantation tātaritanga ira tohu e te tikanga he tika ki te tīariari, ki te āwhina te tātari me te ārai i abnormalities pūira, Heoi, titau whakapai ake.

Āhuatanga PGD e whai ake:

• Ko raro atu i te hunga kahore reira auau materoto mō te āta;
• i te kau i reira he kahore taunakitanga e te taea o hoko hapu nui haere;
• i reira ko te taea o te hua teka: kukune Negative, a ka whakaatu ine kukune kino te hua, me te kōrero rangahau te kore (5-10% o te wā).

A faatere preimplantation tātaritanga ira (tātari blastomeres)

I muri i te whakaaetanga i runga i te i roto i vitro pūnaha whakaputa uri kikiritanga aro mātai ana te hiahia mo te tokorua PGD. Ki te mea i reira he tohu e taea hoa farii i te paopao ki te tikanga ranei. Next ki haina te tuhinga whakau te whakaaetanga ki te whakahaere i te rangahau.

I te toru o nga ra i muri i te kikiritanga kukune geneticist e tetahi o nga pūtau hanga-blastomere mō te tātari. Kei te whakapono te reira e kua te te kukune kahore pānga, no te mea he pūtau whakawhiti katoa.

Ko te mātanga whakahaere rangahau i runga i tetahi o nga wāhi tīpakohia i mua: ko te ako o te hanganga pūtau i raro i te karu kōrekoreko motuhake, ki te ako o DNA te whakamahi i polymerase chain reaction whakatau i te aroaro o irakētanga.

I runga i te hua, e kore e kia whakamahia nga embryos he te kōhikohiko i roto i implantation. Kōwhiri hauora me te kounga. Next, kua whakawhitia ki te kōhao o te whaea kōpū tetahi o ratou ake ranei.

Ki te puta tinana neke unuhanga whakamātautau o pūira whaea. Whakatika te mahi i roto i te take o te raina wahine whakakitea te aroaro o mate ira meinga. Ko te tukanga e āhei ki te whakatau ranei oocyte hauora kia e ka whakamahia mō te kikiritanga kahore whawhati tona hanganga. Ki te kitea e kore kōhikohiko, e taea te whakamahi i te reira no te kikiritanga me whakawhiti ki te kōpū.

He take i reira he āta o tinana neke, a ka nga blastomeres. Tenei taea ki te whiwhi hua atu pono. Ka Scheme ki runga e te hipoki, whiriwhiri he geneticist mātanga.

tikanga e whakamahia ana

Nga abnormalities tau, me te hanganga o te pūira i takoto i te hybridization antibody. Tēnei aratuka taea ki a koe te whakapūtā te raupapa o DNA o te pūtau. Whakamahia pōkai DNA motuhake, e he te hanganga hora tautoko o ngā rohe DNA blastomere.

Ko te uiuia he hanganga nucleotide me fluorophore (rāpoi ngota e taea o fluorescence). I muri i te pāhekoheko te DNA ūnga ki te DNA uiuia rauhanga wahi e hanga e e kua tirohia i raro i te karu fluorescence.

Ano, te whakamahi i te tikanga o PCR (polymerase chain reaction). Ko reira ki te tārua DNA rohe whakamahi whākōkī i roto i etahi tikanga taiwhanga.

tātaritanga o te aneuploidy

Ko tetahi tikanga o te preimplantation tātaritanga ira, e taea ana ki te tautuhi i te aroaro o abnormalities pūira tau (tautuhi pūira anō ngaro ranei) tenei.

Kei te rauemi ira o 46 pūira, hawhe o e homai te papa me te tahi atu hawhe - te whaea. Ki te tango ana te kukune i te pūira anō, huaina a reira ko tātoru, me te mate o tetahi - monosomy. Ēnei kohakore taea arahi ki hopearaa:

• kore o te kukune implantation;
• materoto noa;
• tuku māuiuitanga (syndrome o Down, Klinefelter a, Turner).

Toa pākoko , me te tau faaipoipo he āhuatanga noa i roto i te whanaketanga o enei abnormalities.

pathologies monogenic PGD

Preimplantation tātaritanga ira o embryos ki te whakatau i te aroaro o mate monogenic kawea i roto i te mau utuafare i reira whakapumautia ira te aroaro o kōhikohiko. Ki te kē whai faaipoipo i te kōhungahunga ki te mate ōrite, te whai wāhi ki te whai i tetahi atu tamaiti pā faarahi e rave rahi taime.

Ko te take ko te ngangau o te pūira raupapa motuhake i roto i te wahi DNA. Hoki taua mate ngā:

• kakakīrehe whēwhē;
• syndrome adrenogenital;
• phenylketonuria;
• hemophilia;
• anemia pūtau toronaihi;
• Wernig-Hoffmann syndrome.

Hua me tūponotanga o te tikanga

Preimplantation Genetic tātaritanga, arotake o nei e whakaaro ki te kia rangirua, he etahi painga i roto i te mara o te āta prenatal:

• whakawhitia ki te kōpū o anake nui-te kounga me te embryos hauora;
• whakaiti te reira i te mōrea o te whanau o te tamaiti ki te hē ira;
• hawhe te whakaiti i te mōrea o te materoto;
• hawhe te whakaiti i te mōrea o te maha;
• 10% tupono o piki kukune implantation;
• 20% nui haere tupono hoki te whanautanga haumaru o te tamaiti.

Ko te mōrea o te kino kōpeka ki te kukune, ka PGA he 1%. Ko te tūponotanga o pai teka - 1:10 I tua atu, 3% o te pea i arotakea te kukune ki tetahi pīari te rite hauora.

Ko te tūponotanga e ka whai nga hua o te ine i te kukune hauora - 1:10. Chance o 1: 5, e ka te whakawhitinga o embryos ki te kōhao uterine kia whakakorea no te mea o abnormalities kitea i roto i ia o ratou.

contraindications

he maha o contraindications ki Preimplantation tātaritanga ira (PGD), te mau hopearaa o e kore te rite tāutuhia te ira, kua:

• kukune wehewehenga o nui ake i te 30% (täkupu ko te hanganga o whatiwhatinga o runga ki te 25%);
• wātea o blastomeres multicore i te kukune;
• He iti iho i te 6 blastomeres i te toru o te whanaketanga te ra kukune.

tikanga Haumarutanga

hanga tātaritanga te i te wā wawe o te hanga i te heke mai o te tinana, ina he pluripotent ona pūtau katoa, e ko, o ia e taea te hanga i te tinana hauora oti.

e kore te hikoinga katoa kawea i roto i PGD tono i roto i te ira, kukune me te tamaiti i mua nei. I muri i whiwhi te tauira mo te ako, ko te rite te reira i roto i te ara motuhake. whakanohoia Pūtau i runga i te kiriata karaihe, i runga i nei e whakaritea, ranei te otinga moka.

Ko te utu o te tikanga

Preimplantation tātaritanga ira, te utu o e rerekē i 50 ki te 120 mano moni, i mawhiti tuatahi, te mea te reira whawhe utu. Heoi, ka utu i te hauora me te maimoatanga o te tamaiti ki te abnormalities whakaritea ira nui atu.

Ko te tukanga homai nga painga katoa ki nga wahine e kua i taea ki te hapu i te tamaiti fakanatula, no te mea he ratou e kore te mea e wātea ana i te taua tikanga tātaritanga. Preimplantation tātaritanga ira, i te mea iti utu i roto i te whakarite ki a ia i roto i vitro te kikiritanga, he anake te tua ki te hōtaka whānui, e taea ai e kore anake ki te kawe me te hoatu whanau, engari ano hoki ki te tupu i te tamaiti hauora.