Tlhaloso ea mokhoa oa ho preimplantation liphatsa tsa lefutso tepelletse maikutlong (PGD): libopeho le boleloang

preimplantation tepelletse maikutlong liphatsa tsa lefutso mokhoa o sebelisoang ho hlahloba bophelo ba embryo fumanoa ka ho vitro manyolo pele implantation lona ka uterine cavity. mokhoa oo o etsa hore ho ka khoneha, e seng feela ho khetha nakong e tlang bophelo bo botle bakeng sa ngoana, empa o boetse o eketsa menyetla ea ho ima. mokhoa o sebelisoang haholo lipetlele tsohle tsa lefatše, ho akarelletsa peō vitro.

bopa dikgopolo tsa kakaretso

Preimplantation tepelletse maikutlong liphatsa tsa lefutso o dumella ho itlhahloba e akaretsang 'me a buse ka ntle ho ba teng ha e sa tloaelehang chromosomal ka kakaretso kapa leha e le mang bopengwi itseng. Morao tjena, ka ho tšoanang le ka liphatsa tsa lefutso, mathoasong a litšila etsoa screening e ka khopisang ba ketsahalo ea dihlahala ka ba motho e moholo (ovary, mala, ea matsoele).

Tabeng ea microcyteme mafu genomic biopsy mè o ile a etsa 'maloa lisele tse Polar lehe le pele impregnation ena. The mekhoa o ile a hlalosa a le mefuta e meng ho ea mathoasong a tepelletse maikutlong prenatal e lumellang ho lemosa khahlanong le tšitiso ea bokhachane, haeba lesea ka tšohanyetso e tla ba le lefu la liphatsa tsa lefutso.

Preimplantation tepelletse maikutlong liphatsa tsa lefutso o lumella ho fumana hore na ho kopanela liphate tsa lesea le se a ntse a tshebetso ya 'screening. E e sebediswa ho thibela ntshetsopele ya anomalies amahanngoa le bong.

E le mafu a se futsitseng liphatsa tsa lefutso

Khetholla lefu lefa bakoa ke 'muso o hlaheletseng, recessive le X-amahanngoa mofuta.

Ho screened?

Preimplantation liphatsa tsa lefutso tepelletse maikutlong (PGD) o etsoa maemong a latelang:

1. Ho ba teng ha e mong kapa ka bobeli ba banyalani ba mafu a lefa kapa liphetoho karyotype. ho sebedisanwang maphelong a bona hangata hlokomele mathata a bona, bonyane - tseba mosebetsing oa ho screening.
2. Ho tloaela ho senyeheloa. The bothata ba ho anomalies tse joalo hase karolo ea batsoali ba (ba se ke ba ba), le fetal liphetoho liphatseng tsa lefutso bo liphatseng tsa lefutso tse bakang ho ntšoa ha limpa.
3. Age tsa batho ba hlahetsoeng ke IVF lenaneo, lilemo tse fetang 38.
4. Tse fetang 3 atleha ka boiteko vitro manyolo ka histori.
5. E motona ho kgaolela basadi thari.
6. Retelehela ICSI (intracytoplasmic ente peō ea botona) lenaneong peō. tshebetso e tletse lintho tse ngata ho hōla ha tsela e sa tloaelehang le liphatsa tsa lefutso ka embryo ena.
7. Maemo a ho hydatidiform mole ka histori.

Features PGA

Ho etsa lipatlisiso le tšimong ea preimplantation tepelletse maikutlong liphatsa tsa lefutso li bontša hore mokhoa o na le tokelo ea ho ba teng, ho thusa hlahloba le ho thibela tsela e sa tloaelehang chromosomal Leha ho le joalo, ho hloka ntlafatso e eketsehileng.

Features PGD ke tse latelang:

• senyeheloa sekhahla ho screening e tlaase ho feta ba se nang eona;
• ka nako eo ho se nang bopaki ba hore e eketsehileng monyetla oa ho ba moimana;
• ho na le monyetla oa ho sephetho bohata: Nyahama embryo, 'me e le ka lebaka bontša bopengwi embryo kula le ho etsa lipatlisiso e fana ka maikutlo ho seng joalo (5-10% ea linyeoe).

Khanna preimplantation tepelletse maikutlong liphatsa tsa lefutso (screening blastomeres)

Mora tumellano ka peō tsamaiso ka vitro ikatisa atlholang hore ho hlokahala hore PGD banyalani ba bang ba. Haeba ho na le matšoao a ho sebedisanwang ka amohela kapa ba hana ho buuoa hoo ho. Haufi le ho saena tokomane e tiisang tumello ea ho khanna le phuputso e entsoeng.

Ka letsatsi la boraro ka mor'a peō embryo sa liphatsa tsa lefutso o mong oa lisele generated-blastomere hlahlojoe. Ho lumeloa hore ho lesea e se na e le hantle, hobane tsohle ke fapanyetsana liseleng.

The setsebi khanna lipatlisiso ka e nngwe ya libakeng tse pele a khetha: ho ithuta sebopeho seleng ea ka ka tlas'a ka e khethehileng fluorescent ya microscope, ho ithuta DNA sebelisa polymerase ketane itšoara joang ho bona hore ho ba teng ha liphetoho liphatseng tsa lefutso.

E Thehiloe ho lebaka, ba embryos ho ba le anomalies ke ke ho sebelisoa nakong ea implantation. Khetha bophelo bo botle le boleng. Ka mor'a moo, e mong oa bona kapa ho feta ba a isoa ka cavity ea popelo mè.

Haeba setopo Polar biopsy hlahloba chromosomes le hlaha 'mè. Lekanyetsa e entseng tabeng ea moleng e motšehali o ile a senola ho ba teng ha mafu a liphatsa tsa lefutso bakileng. Tsamaiso e lumella ho fumana hore na hore na oocyte bophelo bo botle hore ho tla sebelisoa bakeng sa peō ntle roba sebopeho lona. Haeba ha ho na anomalies ba hlokometse, ho ka sebelisoa bakeng sa peō le fetisetsa ka popelo ka.

Ho na le Maemong a moo screening ea 'mele Polar,' me joale e ntan'o ba blastomeres. Sena se nolofalletsa ho fumana sephetho ka tšeptjoang haholoanyane. Sekemeng leo tla screened, khetha setsebi sa liphatsa tsa lefutso.

mekhoa sebediswa

The dipalo le mehaho e sa tloaelehang ea chromosomes o ne a ikemiselitse ka ho hybridization fluorescent. Mokhoa ona o lumella hore o bolela ka ho toba a latellana joang ea DNA la sele. Sebelisa DNA probes khethehileng, e leng di a structurally tlatsanang atolohela tsa libaka DNA blastomere.

The fatang na le nucleotide sebopeho le fluorophore (molek'hule ea nang le bokhoni ea khanyang). Mora sebelisana le tsa hlaseloa DNA le DNA fatang khantsitsoe likarolo di thehoa tse talingoa tlas'a khanyang ya microscope.

Hape, sebelisa mokhoa oa ho PCR (polymerase ketane itsoara joang ka). Ke ho kopitsa sebakeng DNA sebelisa enzyme ka maemo a itseng laboratoring.

phumano ya aneuploidy

Sena ke mokhoa o mong oa preimplantation liphatsa tsa lefutso tepelletse maikutlong, e leng lumella ho fumana ho ba teng ha e sa tloaelehang tlhamiwe chromosomal (hlwaya chromosomes eketsehileng kapa ba nyametse).

Boitsebiso bo liphatseng tsa lefutso e na le chromosomes 46, halofo ea eona e fana ka ea ntate le halofo e 'ngoe -' mè. Ha embryo fumana e chromosome e eketsehileng, e bitsoa le trisomy, le tahlehelo ea efe kapa efe - monosomy. likoli tsena ho ka etsa hore liphello tse:

• ho hloka embryo implantation;
• ho itlelang feela ho ntša mpa;
• lefa bolwetse (lefu Down e, Klinefelter e, Turner).

E motona ho kgaolela basadi thari le lilemo banyalani ba na le mabaka a tloaelehile ntshetsopele ya tsela e sa tloaelehang tsena.

PGD pathologies monogenic

Preimplantation liphatsa tsa lefutso phumano ya embryos ho bona hore ho ba teng ha mafu monogenic etsoa malapeng moo liphatsa tsa lefutso e thehilweng ho ba teng ha anomalies. Haeba banyalani ba se ba le ngoana ka lefu e homogeneous, le monyetla oa ho ba le ngoana e mong seo ba anngoeng eketsa makhetlo a 'maloa.

Sesosa ke likhathatso tsa chromosome tatellanong itseng ka DNA karolo. Bakeng sa mafu a joalo a kenyeletsa:

• cystic fibrosis;
• adrenogenital lefu;
• phenylketonuria;
• hemophilia;
• sekele khaello ea mali a ka cell;
• Wernig-Hoffmann lefu.

Melemo le likotsi tsa mokhoa

Preimplantation liphatsa tsa lefutso bongaka, ulasan pelanggan ba tsona li nkoa e le sa hlakang, na le melemo e itseng lefapheng la screening prenatal:

• isoa ka popelo ea feela boleng bo phahameng 'me embryos ka bophelo bo botle;
• Ho fokotsa kotsi ea tsoalo ea ngoana le mefokolo liphatsa tsa lefutso;
• halofo ho fokotsa kotsi ea ho senyeheloa;
• halofo ho fokotsa kotsi ya multiple;
• 10% monyetla oa keketseho e embryo implantation;
• 20% eketsehileng monyetla bakeng sa tsoalo sireletsehileng tsa lesea.

Kotsi ea tšenyo e ka phoso ho embryo ha PGA e 1%. Kgonego ya positive, ba bohata - 1:10 Ho feta moo, 3% ea monyetla oo embryo le sa tloaelehang efe kapa efe e hlahlojoa ka bophelo bo botle.

Kgonego hore embryo bophelo bo tla ba le liphello tsa ho kheloha - 1:10. Monyetla oa 1: 5, e le hore ho fetiswa ha embryos ka uterine cavity tla hlakola ka lebaka la tsela e sa tloaelehang tse fumanoang ka e mong le e ba bona ba.

Contraindications

Preimplantation tepelletse maikutlong liphatsa tsa lefutso (PGD), liphello tsa seo embryo e sa hantle tsejoa, o na a 'maloa a contraindications ho:

• embryo arohana ha le leholo ho 30% (ntho e tloaelehileng ke sebopeho sa lingoathoana tsa ho fihlela ho 25%);
• fumaneha ha blastomeres multicore ka embryo ea;
• embryo na ka tlase ho 6 blastomeres ka letsatsi la boraro la ntlafatso.

mokhoa Security

Fumanoe e entsoeng ka le sethaleng ba pele ba ho bōpa e nakong e tlang ea 'mele, ha lisele tse tsohle tsa bona ke pluripotent, ke hore, ba e mong le e ka theha e feletseng ka bophelo bo botle' meleng.

mehato All atlehe PGD e sa sebelisoa nakong ea embryo, lesea le nakong e tlang lesea. Ka mor'a hore sampole ea ho ithuta e ne e fumana, ho e lokisetsa ka tsela e khethehileng. Lisele tse ba ne ba beha ka khalase li-slide, ka tse tsitsitseng, kapa tharollo pafara.

Litsenyehelo tsa ho buuoa hoo ho

Preimplantation liphatsa tsa lefutso tepelletse maikutlong, litšenyehelo tsa tsona li fapana ho ea li-ruble tse 50 ho 120 tse likete tse, ho habanya taba, ho bonahala mellwane theko e phahameng. Leha ho le joalo, bophelo bo botle le kalafo ea ngoana e ka tsela e sa tloaelehang liphatsa tsa lefutso ikemiselitse tla chelete e ngata haholoanyane.

Tsamaiso e fana ka melemo tsohle ho basali ba ileng ba 'nile ba khona ho emola ngoana ka tlhaho, hobane ba jwalo mokhoa tekotshupo ha e fumanehe. Preimplantation liphatsa tsa lefutso tepelletse maikutlong, e leng theko e fokola ha a bapisoa le eena ka vitro peō, ke phaella moo feela ho lenaneo ka kakaretso, e leng lumella hore e seng feela ho phetha le ho beleha, empa hape le ho hola e le lesea le phetseng hantle.