Description of Hanyar preimplantation kayyade ganewar asali (PGD): halaye da kuma abubuwan

preimplantation kayyade ganewar asali Hanyar da aka yi amfani da su tantance da kiwon lafiya amfrayo samu ta hanyar a vitro hadi kafin ta kafawa a cikin igiyar ciki rami. A hanyar sa ta yiwu ba kawai a zabi wani m gaba ga jariri, amma kuma ƙara samu damar na ciki. A dabara ake amfani da ko'ina a duk asibitoci na duniya, da hannu a vitro hadi.

Janar Concepts

Preimplantation kayyade ganewar asali damar domin m jarrabawa da sarauta daga gaban chromosomal munanan a general ko wani daya musamman sabawa. Kwanan nan, a cikin layi daya da farkon halittar da mũnãnan ayyuka kwashe nunawa wanda zai iya tsokana da ya faru na marurai a adulthood (kwai, ciwon nono).

A cikin hali na m ilimin kwayoyin hali cututtuka masu juna biyu biopsy yi da dama da iyakacin duniya kwai Kwayoyin ko da a gaban impregnation. The bayyana hanyoyin ne madadin zuwa farkon prenatal ganewar asali da damar don ka yi gargaɗi da katsewa na ciki, idan da tayin ba zato ba tsammani zai sami wani kwayoyin cuta.

Preimplantation kayyade ganewar asali damar domin sanin jima'i na baby riga a kan aiwatar da nunawa. Ana amfani da su hana ci gaban anomalies nasaba da jinsi.

Kamar yadda gaji kwayoyin cututtuka

Rarrabe hereditary cuta lalacewa ta hanyar wani rinjaye, recessive da X-nasaba da irin.

Don a yi kariya?

Preimplantation kayyade ganewar asali (PGD) da aka yi a cikin wadannan lokuta:

1. A gaban daya ko biyu daga cikin ma'aurata na hereditary cututtuka ko karyotype canje-canje. abokan da kansu su ne sau da yawa m na matsaloli, akalla - sani a cikin nunawa tsari.
2. Sabõda ashara. Matsalar irin wannan anomalies ba da wani ɓangare na iyaye (sun bazai), da kuma fetal kwayoyin maye gurbi cewa sa abortions.
3. Age na mutane jurewa IVF shirin, fiye da shekaru 38.
4. Fiye da 3 m, a vitro hadi yunkurin a tarihi.
5. Namiji rashin haihuwa.
6. Kunna ICSI (intracytoplasmic maniyyi allura) a hadi shirin. A tsari ne fraught tare da ci gaban da kwayoyin munanan a cikin tayi.
7. Lokuta da hydatidiform mole a tarihi.

Features PGA

Bincike a cikin filin na preimplantation kayyade ganewar asali nuna cewa hanya yana da wani hakkin ya wanzu, don taimaka gane asali da kuma hana chromosomal munanan, duk da haka, na bukatar kara kyautata.

Features PGD ne kamar haka:

• ashara kudi ga nunawa ne m fiye da wadanda ba tare da shi;
• a lokacin babu wata shaida da cewa ya karu yiwuwar zama ciki.
• akwai yiwuwar ƙarya sakamakon: Korau tayi, kuma sakamakon ya nuna sabawa tayi rashin lafiya da kuma bincike ya nuna in ba haka ba (5-10% na lokuta).

Gudanar preimplantation kayyade ganewar asali (nunawa blastomeres)

Bayan da yarjejeniya a kan a vitro hadi haihuwa tsarin bincika bukatar PGD biyu. Idan akwai alamomi abokan iya yarda ko ki hanya. Next shiga cikin daftarin aiki mai gaskatãwa ga izinin da za su gudanar da binciken.

A rana ta uku bayan hadi tayi jini daukan daya daga cikin generated-blastomere Kwayoyin for analysis. An yi imani da cewa tayin da aka ba shi da wani tasiri, saboda duk suna m Kwayoyin.

A gwani gudanar da bincike a kan daya daga cikin a baya zaba yankunan: nazarin tsarin tantanin halitta a karkashin musamman mai kyalli microscope, nazarin DNA ta amfani da polymerase sarkar dauki domin sanin gaban maye gurbi.

Bisa ga sakamakon, da jinjirin da ciwon da anomalies ba za a yi amfani a lokacin da kafawa. Zabi lafiya da kuma inganci. Next, daya daga cikinsu ko fiye aka canjawa wuri a cikin kogo na mahaifa uwa.

Idan iyakacin duniya jiki biopsy jarrabawa na chromosomes auku mahaifiyarsa. K aka yi a cikin hali na mace line saukar gaban genetically sa cututtuka. A hanya damar domin sanin ko lafiya oocyte cewa za a iya amfani da hadi ba tare da keta da tsarin. Idan babu anomalies aka gano, shi za a iya amfani da hadi da kuma canja wurin a cikin mahaifa.

Akwai lokuta inda nunawa iyakacin duniya jikinsu, sa'an nan da blastomeres. Wannan damar zuwa samu karin dogara da sakamakon. Makirci a kan wanda za a yi kariya, nã zãɓen wani gwani jini.

hanyoyin amfani

The lamba da kuma tsarin munanan na chromosomes aka ƙaddara da kyalli hybridization. Wannan hanya ba ka damar saka da jerin cikin cell ta DNA. Yi amfani da musamman DNA yi bincike, suna da fasali karin stretches na DNA blastomere zones.

The bincike yana da wani nucleotide abun da ke ciki da kuma fluorophore (kwayoyin iya haske). Bayan da hulda da manufa DNA tare da DNA bincike hasken rabo an kafa cewa suna kyan gani, a karkashin wani haske hange.

Har ila yau, ta amfani da hanyar na PCR (polymerase sarkar dauki). Yana da su kwafe DNA yankin amfani da enzymes a wasu awon yanayi.

ganewar asali aneuploidy

Wannan shi ne daya Hanyar preimplantation kayyade ganewar asali, wanda damar su gane gaban lamba chromosomal munanan (gane karin ko m chromosomes).

A kayyade kayan kunshi 46 chromosomes, rabin na wanda ya ba da uba da kuma sauran rabin - uwar. Idan tayi na'am da wani karin chromosome, shi ne ake kira trisomy, da kuma asarar da wani - monosomy. Waɗannan lahani iya kai wa ga sakamakon:

• rashin tayi kafawa.
• maras wata-wata zubar da ciki;
• hereditary Pathology (Down ta ciwo, Klinefelter ta, Turner).

Namiji rashin haihuwa da kuma shekaru ma'aurata ne na kowa dalilai a ci gaban wadannan munanan.

PGD monogenic pathologies

Preimplantation kayyade ganewar asali da xan tayin domin sanin gaban monogenic cututtuka za'ayi a cikin iyalai inda kwayoyin kafa gaban anomalies. Idan ma'aurata na da Toddler tare da kama cuta, da damar da wani shafa yaro qara sau da yawa.

A sabili ne a tashin hankali na chromosome musamman a cikin jerin DNA rabo. Domin irin wannan cututtuka sun hada da:

• cystic fibrosis.
• adrenogenital ciwo.
• phenylketonuria.
• hemophilia.
• sickle cell anemia.
• Wernig-Hoffmann ciwo.

Amfanin da kuma kasada na da hanyar

Preimplantation Halitta ganewar asali, da sake dubawa na wanda aka dauke su shubuha, yana da wasu abũbuwan amfãni a filin na prenatal nunawa:

• canjawa wuri zuwa cikin mahaifa na kawai high quality, kuma m tãyuna.
• Ya rage hadarin haihuwar jariri da kwayoyin lahani.
• rabin rage hadarin da ashara.
• rabin rage hadarin da mahara.
• 10% damar tayi kafawa ƙaruwa.
• 20% ƙãra damar domin wani hadari haihuwar jaririn.

A hadarin mai haɗari lalacewar da tayi a lokacin da PGA ne 1%. Yiwuwar ƙarya m - 1:10 Bugu da kari, 3% na da yiwuwar cewa tayi tare da wani abnormality aka kimanta a matsayin lafiya.

A yiwuwa cewa wani m tayi zai sami sakamakon sabawa - 1:10. Chance na 1: 5, cewa da canja wurin da tãyuna a cikin igiyar ciki rami za a soke saboda munanan samu a kowane daga cikinsu.

contraindications

Preimplantation kayyade ganewar asali (PGD), da sakamakon wanda amfrayo da aka ba daidai gano, yana da yawan contraindications zuwa:

• tayi fragmentation na fi 30% (na kullum ne da samuwar wani ɓaɓɓake daga sama zuwa 25%).
• samuwan multicore blastomeres a cikin tayi.
• tayi yana kasa da 6 blastomeres a rana ta uku na ci gaba.

tsaro hanyar

Ganewar asali da aka sanya a wani wuri mataki na samar da nan gaba na jiki, a lokacin da duk ta Kwayoyin suna pluripotent, wato, na kowane zai iya samar da cikakken lafiya jiki.

All matakai da za'ayi PGD ba amfani a lokacin tayi, tayin da kuma nan gaba baby. Bayan da samfurin ga binciken da aka samu, an shirya a cikin wani musamman hanya. Sel aka sanya shi a kan wani gilashi slide, a kan wanda ake gyarawa, ko wani buffer bayani.

The kudin na hanya

Preimplantation kayyade ganewar asali, da kudin na wanda dabam daga 50 zuwa 120 dubu rubles, a duban farko, alama tsada magudi. Duk da haka, da kiwon lafiya da kuma lura da wani yaro da genetically m munanan zai kudin yafi.

A hanya ba dukan amfanin mata da suka yi iya yi ciki yaro halitta, domin lalle ne su irin wannan bincike Hanyar ba samuwa. Preimplantation kayyade ganewar asali, wanda farashin ne scanty a kwatanta da kansa a cikin vitro hadi, ne kawai Bugu da kari da sauran shirin, wanda damar ba kawai don gudanar da bayar da haihuwa, amma kuma ya girma da lafiya baby.