Kufotokozera za njira preimplantation majini matenda (PGD): makhalidwe ndi zotsatira

preimplantation matenda majini agwiritsa ntchito njira zowunikira thanzi la Ndisanaumbidwe akamagwira mu m'galasi umuna pamaso implantation ake mu uterine patsekeke. njira limachititsa osati kusankha tsogolo wathanzi mwanayo, koma kuwonjezera mwayi wa mimba. Njira imene chimagwiritsidwa ntchito mu zipatala zonse za mdziko, nawo umuna m'galasi.

Zikhulupiriro General

Preimplantation matenda majini zimathandiza kufufuza mwatsatanetsatane ndipo adzalamulira kuchokera pamaso pa kuvutika chromosomal ambiri kapena wina zolakwika yeniyeni. Posachedwapa, limodzi ndi chibadwa oyambirira makhalidwe anagwira mosamala zomwe imfayo pakutchulidwa a zotupa mu akula (n'kuwasanganiza, m'matumbo, chifuwa).

Pankhani ya nthandala matenda kutengera mapangidwe biopsy akuchikazi anachita angapo maselo kumalo ozizira dzira ngakhale pamaso impregnation lapansi. The njira anafotokoza ndi njira ina oyambirira matenda akalandire chithandizo chimene chimathandiza kuti tisakhale ndi kusokoneza mimba, ngati mwana wosabadwayo mwadzidzidzi adzakhala ndi matenda chibadwa.

Preimplantation matenda majini amalola kudziwa kugonana kwa mwana kale m'kati mosamala. Amagwiritsidwa ntchito kupewa chitukuko cha anomalies zogwirizana ndi jenda.

Monga matenda anatengera chibadwa

Kusiyanitsa matenda otengera chifukwa cha wamphamvu, recessive ndi X-zogwirizana mtundu.

Kuti ndisanabadwe?

Preimplantation majini matenda (PGD) imagwiridwa milandu zotsatirazi:

1. Pamaso pa chimodzi kapena zonse za mabanja a matenda otengera kapena kusintha karyotype. abwenzi okha nthawi zambiri sadziwa mavuto awo, osachepera - mukudziwa mu ndondomeko mosamala.
2. Kabwerebwere padera. Vuto anomalies zimenezi si mbali ya makolo (iwo sangakhale), ndi yoopsa masinthidwe majini amene amayambitsa mimba.
3. M'badwo wa anthu akukumana lidzawagwiritsenso pulogalamu, zaka zoposa 38.
4. Pa 3 zinalephereka ankafuna m'galasi umuna mu mbiri.
5. Male osabereka.
6. Kutembenuza ICSI (intracytoplasmic jekeseni umuna) mu ndondomeko umuna. ndondomeko ndi zinadzala ndi chitukuko cha kuvutika kwa maselo a mwana wosabadwayo lapansi.
7. Milandu hydatidiform Mole mu mbiri.

Features PGA

Research m'munda wa preimplantation matenda majini akusonyeza kuti njira ali ndi ufulu kulibe, kuthandiza oterewa ndi kupewa kuvutika chromosomal Komabe, pamafunika kusintha kwinanso.

NKHANI PGD ali motere:

• padera ndalama kwa mosamala n'chozama kupitirira anthu popanda;
• pakadali palibe umboni kuti kuchuluka n'zotheka kukhala ndi pakati;
• pali kuthekera zotsatira zabodza: Wachisoni wosabadwayo, ndipo zotsatira zake zikusonyeza zolakwika Ndisanaumbidwe kudwala ndi kafukufuku akusonyeza mwinamwake (5-10% milandu).

Kuchititsa preimplantation matenda majini (kuphimba blastomeres)

Pambuyo pangano pa umuna dongosolo mu m'galasi ubereki amayankha kufunika PGD angapo. Ngati pali zizindikiro bwenzi lathu kungakhale kapena kukana ndondomeko. Kenako kusaina chikalata chotsimikizira chilolezo kuchititsa ndi kafukufuku.

Pa tsiku lachitatu pambuyo umuna Ndisanaumbidwe zachibadwa amatenga munthu wa maselo kwaiye-blastomere kwa kusanthula. Akukhulupirira kuti mwana wosabadwayo ndi alibe zotsatira, chifukwa onse mosinthana maselo.

The katswiri amachita kafukufuku wina wa m'madera kale anasankha: kuphunzira dongosolo selo pansi wapadera fulorosenti maikulosikopu kuphunzira DNA ntchito polymerase unyolo anachita kudziwa pamaso pa masinthidwe.

Kuchokera pa chotsatira, mazira kukhala ndi anomalies sati ntchito pa implantation. Sankhani wathanzi ndi khalidwe. Kenako, mmodzi wa iwo kapena ambiri anasamutsidwa kuti patsekeke ya m'chiberekero cha mayi.

Ngati thupi kumalo ozizira biopsy Kupenda DNA amapezeka mayi. Calibration zichitike nkhani ya mzere wamkazi kuwululidwa pamaso pa matenda osiyana akumvera. ndondomeko amalola kuti aone ngati oocyte abwino adzakhala ntchito umuna wopanda kuswa dongosolo lake. Ngati palibe anomalies ali wapezeka, zikhoza kugwiritsidwa ntchito kwa umuna ndi n'kuwaika chiberekero.

Pali milandu kumene mosamala matupi kumalo ozizira, ndiyeno blastomeres. Zimenezi zimathandiza kupeza zotsatira odalirika kwambiri. Chiwembu pa zomwe ndisanabadwe, amasankha katswiri zachibadwa.

ntchito njira

The n'zosangalatsa kumva ndi structural kuvutika DNA anatsimikiza mwakusakaniza fulorosenti. Njira imeneyi zimathandiza inu mwachindunji ndi ndondomeko ya DNA ya selo. Gwiritsani DNA probes wapadera, amene amapanga wowonjezera akutambasula za mabacteria DNA blastomere.

Kafukufuku ali nyukiliotayidi zikuchokera ndi fluorophore (molekyulu angathe kuwala). Pambuyo mogwirizana ndi chandamale DNA ndi DNA kafukufuku aunika mbali anapanga kuti amaona pansi pa kuwala maikulosikopu.

Komanso, kugwiritsa ntchito njira PCR (polymerase unyolo anachita). Ndi kutengera dera DNA ntchito michere mu zinthu zina zasayansi.

matenda a aneuploidy

Iyi ndiyo njira imodzi preimplantation majini matenda, amene amalola kudziwa pamaso pa kuvutika n'zosangalatsa kumva chromosomal (kuzindikira DNA owonjezera kapena akusowa).

Nkhani majini imakhala DNA 46, theka la zimene amapereka bambo ndi theka lina - mayi. Ngati Ndisanaumbidwe alandira ndi khromozomu owonjezera, umatchedwa trisomy, ndi imfa ya - monosomy. zopindika awa angakhale ndi zotsatira:

• kusowa kwa mwana wosabadwayo implantation;
• mowiriza mimba;
• cholowa kudwala (matenda Down a, Klinefelter a, Turner).

Male osabereka ndi zaka mabanja zinthu wamba mu chitukuko cha kuvutika izi.

PGD pathologies monogenic

Preimplantation majini matenda a mazira kudziwa pamaso pa matenda monogenic anagwira m'mabanja majini anakhazikitsa pamaso pa anomalies. Ngati mabanja kale kuyenda ndi matenda kwenikweni mwayi mwana wina akhudzidwa kumawonjezera kangapo.

Chimayambitsa phokoso la khromozomu linayamba kugawanika mu DNA gawo. Kwa matenda monga:

• enaake fibrosis;
• adrenogenital syndrome;
• phenylketonuria;
• amapatsira mwana wake;
• zenga magazi m'thupi khungu;
• Wernig-HOFFMANN syndrome.

Phindu ndi kuopsa kwa njira

Preimplantation Chibadwa Matendawa, ndemanga amene amaonedwa kukhala osokoneza, lili ndi ubwino m'munda wa mosamala kuti akalandire chithandizo:

• anasamutsa mu chiberekero okha apamwamba ndi mazira wathanzi;
• Amachepetsa chiopsezo kubadwa kwa mwana ndi nthenda ya kumtundu;
• theka amachepetsa chiopsezo padera;
• theka amachepetsa chiopsezo angapo;
• 10% mwayi ukuwonjezeka Ndisanaumbidwe implantation;
• 20% kuchuluka mwayi kubadwa otetezedwa a mwanayo.

Chiopsezo kuwonongeka mwangozi kuti mwana wosabadwayo pamene PGA ndi 1%. Mwina zabwino onyenga - 1:10 Komanso, 3% ya n'zotheka kuti mwana wosabadwayo ndi chosayenerera aliyense ayesedwa wathanzi.

Mwina kuti mwana wosabadwayo wathanzi adzakhala ndi zotsatira za kupatuka - 1:10. Chance 1: 5, kuti kulanda mazira mu uterine M'mimbamo adzakhala zimafika chifukwa cha kuvutika opezeka aliyense wa iwo.

contraindications

Preimplantation matenda majini (PGD), zotsatira za zomwe Ndisanaumbidwe si ndendende, angapo a contraindications kuti:

• Ndisanaumbidwe Kugawikana kuposa 30% (ponseponse ndi mapangidwe makombo a kwa 25%);
• kupezeka kwa blastomeres multicore mu Ndisanaumbidwe ndi;
• Ndisanaumbidwe ali zosakwana 6 blastomeres pa tsiku lachitatu chitukuko.

njira Security

Matendawa amapangidwa pa siteji oyambirira kulenga tsogolo la thupi, pamene maselo ake onse pluripotent, ndiye wina akhoza kupanga wathunthu thupi la thanzi.

masitepe onse ikuchitika PGD si ntchito pa Ndisanaumbidwe, mwana wosabadwayo ndi tsogolo mwana. Pambuyo chitsanzo phunziro chinapezeka, kudakonzedweratu m'njira yapadera. Maselo anaikidwa pa galasi Wopanda, pa zimene mapulani kapena njira gawo lotetezedwa.

Mtengo wa ndondomeko

Preimplantation majini matenda, mtengo umene umasiyana rubles 50 120 zikwi, pa Koyamba, zikuoneka mpheto mtengo. Komabe, thanzi ndi mankhwala a mwana ndi kuvutika chibadwa anatsimikiza ndalama zambiri.

Ndondomeko amapereka phindu lonse kwa akazi amene wakhoza kuchilandira mwana mwachibadwa, chifukwa iwo ali ngati njira yodziwira palibe. Preimplantation majini matenda, zomwe mtengo ndi zochepa poyerekeza ndi iye mu m'galasi umuna, ndi Kuwonjezera yekha pulogalamu akukhudzidwira, amene amalola osati kuti anyamule ndipo kubereka, komanso kukula mwana wathanzi.