Description of nzira preimplantation genetic diagnosis (PGD): unhu uye nechirevo

preimplantation majini chirwere nzira inoshandiswa kuongorora utano embryo yaunganidzwa ezvokunambira kunze kwomuviri waamai pakusangana pamberi rayo muchibereko kupinda uterine mhango. Nzira runoita kuti kwete chete kusarudza remangwana akagwinya kuti mwana, asi kunowedzerawo mukana pamuviri. Nzira iri zvinowanzoshandiswa muzvipatara zvose zvenyika, vanobatanidzwa ezvokunambira kunze kwomuviri waamai muchangosangana.

General pfungwa

Preimplantation majini chirwere achibvumira misoro kuzviongorora uye ushe kubva pamberi chromosomal abnormalities zvavo kana munhu zvakananga zvarakasiya. Munguva ichangopfuura, muna kufanana okutanga majini zvakaipa vakatakura kuongorora izvo zvinogona kumutsa panowanikwa namamota vakura (ovary, muura, zamu).

Kana akaendesa genomic zvirwere rwaamai biopsy akaita polar zai masero akawanda kunyange pamberi impregnation. The zvinorondedzerwa dzinoshandiswa rinogona kutsiva mangwanani pamuviri chirwere kuti unobvumira kunyevera pamusoro dzongonyedzo pamuviri, kana fetus pakarepo achava majini chirwere.

Preimplantation majini chirwere anobvumira kuziva bonde ari mwana atova nedanho kuongorora. Rinoshandiswa kudzivirira kukura anomalies chokuita chechikadzi.

Sezvo nhaka nemagene zvirwere

Kusiyanisa nhaka chirwere anokonzerwa hukuru, recessive uye X-kwakabatana mhando.

To firimu?

Preimplantation genetic diagnosis (PGD) rinoitwa anotevera nyaya:

1. Kuvapo mumwe kana vaviri mhuri ine nhaka zvirwere kana karyotype kuchinja. vadyidzani pachavo kakawanda vasingazivi matambudziko avo, dzinenge - kuziva ari kuongorora kwacho.
2. Ziendamberi kubva kwepamuviri. Dambudziko anomalies vakadaro havasi chikamu vabereki (varege kuva), uye fetus nemagene kunotouraya kuti anokonzera pamuviri.
3. Age vanhu achirapwa IVF chirongwa, makore anopfuura 38.
4. Over 3 kundikana ezvokunambira kunze kwomuviri waamai muchangosangana kuedza munhau.
5. Male kushaya mbereko.
6. Turning ICSI (intracytoplasmic dzisingaoneki jekiseni) muna muchangosangana chirongwa. The kwacho hwakazara kukura masero abnormalities mu embryo.
7. Zviitiko hydatidiform norwaivhi munhau.

Features PGA

Zvisinei, tsvakurudzo mumunda preimplantation majini nechirwere zvinoratidza kuti nzira ane kodzero iripo, kubatsira rokuongorora uye kudzivirira chromosomal abnormalities, zvinoda mamwe kuvandudzika.

Features PGD ndeinotevera:

• nokupfupfudzika zvazvingava nokuti kuongorora dererei pane avo pasina;
• panguva hapana uchapupu hwokuti zvakawedzera mukana wokuva pamuviri;
• pane mukana zvabuda venhema: Negative mudumbu, uye mugumisiro rinoratidza zvarakasiya Muviri kurwara uye tsvakurudzo zvinoratidza zvimwe (5-10% nyaya).

Kuitisa preimplantation genetic diagnosis (achivhara blastomeres)

Pashure chibvumirano pamusoro ezvokunambira kunze kwomuviri waamai muchangosangana dzokubereka nadzo anoyera kudiwa PGD vakaroorana. Kana zvichiratidza ishamwari vanogona kugamuchira kana kuramba muitiro. Next kusaina gwaro achisimbisa mvumo kuitisa ongororo.

Pazuva rechitatu pashure muchangosangana mudumbu geneticist anotora rimwe vanowanika-blastomere masero kuti ongororo. Zvinofungidzirwa kuti mwana asati azvarwa asina maturo, nokuti zvose zviri masero kuchinjaniswa.

Mazvikokota anoitisa kutsvakurudza rimwe munzvimbo kare kusarudzwa: kudzidzwa sero mamiriro pasi fluorescent maikorosikopu chaiyo, pakudzidza DNA vachishandisa polymerase cheni maitiro kuona pamberi kunotouraya.

Inobva mugumisiro, Tuvana rine anomalies Haingaropafadzwi kushandiswa panguva muchibereko. Sarudzai utano uye unhu. Next, mumwe wavo kana kupfuura vari Kutamiswa vakapinda mhango amai dumbu.

Kana polar muviri biopsy kuongorora okutodza kunoitika mai. Calibration zvinoitwa zvakadyiwa munhukadzi mutsetse kwakaratidza kuvapo zvinoberekeswa kunokonzerwa zvirwere. The nzira unobvumidza kuti aone kana utano oocyte kuti richashandiswa pakusangana pasina nokuputsa maumbirwo kwayo. Kana pasina anomalies aonekwa, rinogona kushandiswa pakusangana uye uchatamisa kupinda dumbu.

Pane zviitiko apo pane kuongorora polar miviri, uye ipapo blastomeres. Izvi zvinobvumira kuti vawanze yakavimbika zvawanikwa. Scheme pamusoro izvo zvichashandiswa firimu, anosarudza nyanzvi geneticist.

dzakashandiswa

The kusanganiswa uye STRUCTURAL abnormalities okutodza akafunga nokuda fluorescent hybridization. Nzira iyi inobvumira kuti kutaridzwa kutevedzana kwezviitiko sero DNA. Shandisa chaiyo DNA Yatanga Kuongorora, idzo zvayakaita nopindirana anotambanudza DNA blastomere zvikamu.

The vachiongorora ane nucleotide sezvamunoita uye fluorophore (Morekuru vanokwanisa fluorescence). Mushure kukurukurirana kubaya DNA pamwe DNA vachiongorora nokuvhenekerwa zvikamu zviri kuumbwa kuti vanoonekwa pasi fluorescence maikorosikopu.

Uyewo, achishandisa nzira PCR (polymerase cheni kuita). Zviri kutevedzera DNA nharaunda kushandisa makemikari kwemamwe murabhoritari ezvinhu.

kuongorora chirwere kuti aneuploidy

Ichi chimwe nzira preimplantation kuvabereki nechirwere, izvo anobvumira kuziva kuvapo kusanganiswa chromosomal abnormalities (kuziva mamwe kana zvisipo okutodza).

The majini zvinhu ine 46 okutodza, hafu aunopiwa baba uye imwe hafu - mai. Kana embryo anogamuchira dzimwe chromosome, anonzi Trisomy, uye kurasikirwa chero - monosomy. zvikanganiso izvi zvinogona kutungamirira nemigumisiro:

• nokushaiwa mudumbu muchibereko;
• vaingoerekana pamuviri;
• nhaka zvokurwara (Down kuti urwere, Klinefelter vake, Turner).

Male kushaya mbereko uye zera vakaroorana dzinowanzotaurwa zvikonzero kukura abnormalities izvi.

PGD monogenic pathologies

Preimplantation nemagene chirwere tuvana kuona pamberi monogenic zvirwere akatakurwa mumhuri umo majini akasimbisa kuvapo anomalies. Kana vakaroorana vanotova kukambaira ane homogeneous chirwere, mukana kuti mumwe mwana ane inowedzera kanoverengeka.

The chikonzero iri kuvhiringidza chromosome zvakananga sequences ari DNA mugove. For zvirwere zvakadai dzinosanganisira:

• cystic fibrosis;
• adrenogenital urwere;
• phenylketonuria;
• hemophilia;
• jeko muchitokisi kupererwa neropa;
• Wernig-Hoffmann syndrome.

Kubatsira uye njodzi pamusoro nzira

Preimplantation Genetic nechirwere, wongororo iyo vanoonekwa kuti zvakawanda, zvimwe zvakwakanakira mumunda pamuviri kuongorora:

• Kutamiswa kupinda dumbu chete yepamusoro uye utano tuvana;
• It kunoderedza ngozi pakuzvarwa kwemwana pamwe vaberekwe vakaremara;
• hafu kunoderedza ngozi yokubva pamuviri yakakura;
• hafu kunoderedza ngozi siyana;
• 10% mukana mudumbu muchibereko kunowandawo;
• 20% vakawedzera mukana yakachengeteka kuberekwa kwemwana.

Mukana netsaona kukuvadzwa embryo apo PGA ndiye 1%. Mukana enhema zvakanaka - 1:10 Uyezve, 3% of mukana kuti embryo chero abnormality hunoyerwa sezvo utano.

Mukana kuti mudumbu utano achava migumisiro kutsauka - 1:10. Mukana 1: 5, kuti kuchinjwa tuvana kupinda uterine mhango ichaparadzwa akadzima nokuda abnormalities anowanikwa nomumwe wavo.

Contraindications

Preimplantation genetic diagnosis (PGD), migumisiro iyo embryo haisiri kuzivikanwa, ane nhamba contraindications kuti:

• Muviri kusabatana kupfuura 30% (ndeyokuva paumbwe zvimedu anosvika 25%);
• Kuwanikwa multicore blastomeres ari mudumbu;
• Muviri ane asingasviki 6 blastomeres pazuva kukura rechitatu.

Security nzira

Chirwere chinoitwa vachiri pavaipfuura kusika ramangwana muviri, kana masero ayo ose pluripotent, kureva, nechimwe anogona kuumba muviri wakakwana utano.

Matanho All kuitwa PGD haina kuiswa panguva embryo, mudumbu uye mwana ramangwana. Mushure mharidzo chidzidzo rwaiwanikwa, ndezvevakazvigadzirirwa munzira chaiyo. Masero akaiswa pamusoro girazi yemasiraidhi, pamusoro zviri wakaiswa, kana buffer mhinduro.

Mari nzira

Preimplantation kuvabereki nechirwere, mari iyo zvichisiyana 50 kusvika 120 zviuru rubles, Pakutanga, zvinoita sokuti kumonyanisa zvinodhura. Zvisinei, utano uye vabatwe mwana majini vakatsunga abnormalities achaita mari zvakawanda.

The nzira anopa zvose zvakanakira vakadzi vave kukwanisa pamuviri sezvingatarisirwa, nokuti nzira yakadaro yokuongororwa haisi kuwanikwa. Preimplantation kuvabereki nechirwere, izvo mutengo iri shoma achimuenzanisa pachake ezvokunambira kunze kwomuviri waamai fertilization, ndiyo chete Kuwedzera zvinonyatsorehwa chirongwa, izvo zvinoita kwete chete kutakura uye kubereka, asi kuti kukura mwana ane utano.