I-DPI: okudingeka ukwazi

Kuyini ukuxilongwa kwangaphambi kokufakelwa?

I-DPI inikeza ithuba lokuthi umbhangqwana ube nakho ingane engeke ibe nesifo sofuzo engadluliselwa kuye. 

I-PGD ​​iqukethe ukuhlaziya amangqamuzana avela emibungu evela ku-in vitro fertilization (IVF), okusho ukuthi ngaphambi kokuthi athuthuke esibelethweni, ukuze akhiphe lawo ahlaselwa isifo sofuzo noma ukunemba kwe-chromosomal.

Ngabe isebenza kanjani i-pre-implantation diagnosis?

Ekuqaleni, njenge-IVF yakudala. Owesifazane uqala ngokukhuthazwa kwe-ovarian (ngokujova nsuku zonke kwamahomoni), okwenza kube nokwenzeka ukuthola ama-oocyte amaningi. Zibe sezibhobozwa futhi zixhunywe nesidoda somlingani epayipini lokuhlola. Kwaze kwaba ngemva kwezinsuku ezintathu lapho ukuxilongwa kwangaphambi kokufakelwa kwenzeka ngempela. Izazi zezinto eziphilayo zithatha ingqamuzana elilodwa noma amabili emibungu (okungenani amangqamuzana ayisithupha), zifuna isakhi sofuzo esihlobene nesifo esifunwayo. Khona-ke i-IVF iyaqhubeka: uma umbungu owodwa noma emibili ingalimazi, idluliselwa esibelethweni sikamama.

Ubani onikezwa ukuhlolwa kwangaphambi kokufakelwa?

Le I-Preimplantation genetic diagnosis (noma i-PGD) iyindlela eyenza kube nokwenzeka ukuhlonza okungaba khona okungavamile - ufuzo noma i-chromosomal - emibungu ekhulelwe ngemva kokuvundiswa kwe-in vitro (IVF). Kuyahlongozwa imibhangqwana esengozini yokudlulisela isifo sofuzo esibi nesingelapheki ezinganeni zayo. Kungenzeka bona ngokwabo bayagula noma abathwali abanempilo nje, okungukuthi, baphethe isakhi sofuzo esibangela lesi sifo, kodwa abaguli. Lesi sakhi sofuzo ngezinye izikhathi asitholakali kuze kube ngemva kokuzalwa kwengane yokuqala egulayo.

PGD: yiziphi izifo esizifunayo?

Ngokuvamile, lezi i-cystic fibrosis, i-Duchenne muscular dystrophy, hemophilia, i-Steinert myotonic dystrophy, fragile X syndrome, i-chorea ka-Huntington, nokungalingani kwe-chromosomal okuhlotshaniswa nokudluliselwa, kodwa alukho uhlu oluphelele. sekuchaziwe. Isinqumo sisele kodokotela. Ngaphezu kwalokho, akukabi khona ukuhlolwa kokuxilonga kumaseli e-embryonic zonke izifo zofuzo bucayi futhi angelapheki.

Kwenziwa kuphi ukuxilonga ngaphambi kokufakelwa?

E-France, inani elilinganiselwe kuphela lezikhungo ezigunyazwe ukunikeza i-PGD: isibhedlela i-Antoine Béclère, isibhedlela i-Necker-Enfants-Malades esifundeni sase-Paris, kanye ne-Reproductive Biology Centers ekhona e-Montpellier, e-Strasbourg, e-Nantes nase-Grenoble.

Ingabe zikhona izivivinyo ngaphambi kokuxilongwa kwangaphambi kokufakelwa?

Ngokuvamile, umbhangqwana usuvele uhlomulile ekwelulekweni ngofuzo okudlulisele esikhungweni se-PGD. Ngemva kwenhlolokhono ende kanye nokuhlolwa okuphelele komtholampilo, owesilisa nowesifazane kufanele bahlolwe isikhathi eside futhi esilinganiselwe, okufana nalokho okumele kulandele bonke abahlolwayo ukuze bathole indlela yokuzala ngosizo lwezokwelapha, ngoba ayikho i-PGD engenzeka ngaphandle kosizo lwezokwelapha. ukukhulelwa kwe-in vitro.

PGD: senzani neminye imibungu?

Labo abahlaselwe yilesi sifo babhujiswa ngokushesha. Esimeni esingavamile lapho imibungu yekhwalithi enhle engaphezu kwemibili ingalinyazwanga, leyo engakafakwa (ukuze kuncishiswe ingozi yokukhulelwa kaningi) ingase iqandiswe uma umbhangqwana uzwakalisa isifiso sokuba nezingane ezengeziwe.

Ingabe abazali baqinisekile ukuthi bazoba nengane enempilo ngemva kwe-PGD?

I-PGD ibheka kuphela isifo esithile, isibonelo i-cystic fibrosis. Umphumela, otholakala emahoreni angaphansi kuka-24, ngakho-ke uqinisekisa kuphela ukuthi ingane ezayo ngeke ihlupheke ngalesi sifo.

Ayini amathuba okukhulelwa ngemva kokuxilongwa kwangaphambi kokufakelwa?

Sekukonke, angu-22% ngemva kokubhobozwa kanye nama-30% ngemva kokudluliselwa kombungu. Okusho ukuthi, kucishe kufane nalezo zowesifazane ozithwele ngokuzenzekelayo phakathi nomjikelezo wemvelo, kodwa imiphumela iyahlukahluka kuye ngekhwalithi yama-oocyte kanye neminyaka kamama. unkosikazi.

Ingabe isetshenziselwa futhi ukukhetha "izingane zomuthi"?

E-France, umthetho we-bioethics ugunyaza kuphela kusukela ngoDisemba 2006, kodwa kuphela lapho ingane yokuqala inesifo esingelapheki esidinga umnikelo womnkantsha wethambo uma kungekho onikelayo ohambisanayo emndenini wakhe. Abazali bakhe sebengase bacabangele, ngesivumelwano se-Biomedicine Agency, ukuthi basebenzise i-PGD ukuze bakhethe umbungu ongenaso lesi sifo futhi ngaphezu kwalokho ohambisana nengane egulayo. Inqubo egadiwe ngokuqinile.