I-karyotyping ye-genetic-eyaziwa nangokuthi ukuhlaziywa kwe-chromosome-ukuhlolwa okungabonisa ukungahleleki kwezakhi zofuzo. Ingasetshenziswa ukuqinisekisa noma ukuxilonga isifo somzimba noma isifo. Noma, ukuhlolwa kungabonisa ukuthi umbhangqwana usengozini yokuba nengane ene-genetic or chromosomal disorder.
Isibonelo, i-karyotyping ingabonisa ukuthi umlingani wesilisa unesifo se-Klinefelter syndrome, isifo esingokwemvelo esingatholakali kuze kube yilapho indoda ibhekana nokugula .
Amadoda ane-Klinefelter syndrome ane-X eyengeziwe ye-chromosome ku-DNA yawo (kunokuba ibe yi-XY kuphela ayi-XXY), futhi ngokuvamile ayinamandla.
Udokotela wakho angase ancoma i-karyotyping yezofuzo uma:
- Uhlulekile ukukhulelwa isikhathi esingaphezu konyaka .
- Uhlangabezane nokuhlukunyezwa kokubili noma ngaphezulu kokulandelana.
- Uke wabhekana nokuzalwa okungakazalwa.
- Umlingani wesilisa akanalo isidoda esiswini sakhe noma isibalo esincane kakhulu sembewu . (Eyaziwa nangokuthi azoospermia noma oligozoospermia eqinile.)
- Umlingani wesifazane uye wathola ukuthi unesisindo sokuqala esiyisisekelo se-ovarian. (Eyaziwa nangokuthi i-POI, ukungasebenzi kahle kwe-ovarian , noma i-POF, ukuhluleka kwe-ovarian ngaphambi kwesikhathi.)
I-karyotyping ye-genetic ingadingeka ngaphambi kokuthola ubuchwepheshe bokuzala bokusiza, kuhlanganise ne- IUI noma i- IVF. Lokhu kuyiqiniso ikakhulu kulabo abacabangela i- IVF nge-ICSI , okwandisa ingozi yokudlulisela ukungabi nabesilisa kanye nezinye izifo zofuzo.
Isivivinyo Senziwe Kanjani
Emibhangqwaneni engenasifo, ukuhlolwa kuvame ukuqhutshwa nge-draw draw, kusukela kumlingani wesilisa nowesifazane.
Amasampuli wegazi asetshenzwa ebhodini.
Amaseli avela esampula yegazi afakwa esitsheni esikhethekile ukuze akhuthaze ukuba bakhule. Uma amangqamuzana efika esiteji esithile sokukhula, amangqamuzana abonakala futhi afundwe ngaphansi kwe-microscope.
Uchwepheshe welebhu uhlola usayizi namaseli amangqamuzana. Babuye bathathe isithombe samaseli babuke inani lama-chromosomes emaseli.
Isithombe esikhethekile sikwenza amalungiselelo e-chromosome ahlolwe.
Kungani ukululekwa kwe-Genetic Kungase Kunconywe Ngaphambi Kokuphathwa Kwesizalo
Ukuhlolwa kofuzo kungase kuthole imbangela yokungasebenzi kwakho noma ukulahlekelwa okuphindaphindiwe. Ukwazi ukuthi kungani ungakwazi ukukhulelwa, noma kungani uqhubeka ukuphazamiseka, kungasiza udokotela wakho atuse izinketho zokwelashwa ezingcono kakhulu .
Esinye isizathu sokwenza ukuhlolwa kofuzo ngaphambi kokwelapha ukwelashwa ukugwema ukudlulisela ukukhubazeka kofuzo kumntwana ozayo.
Ezinye izinguquko zofuzo zingabangela ukungabi nalutho uma zikhona komzali oyedwa, kodwa, lapho bobabili abazali bephethe ushintsho, bangadlulisela emntwaneni wabo isimo sezakhi zofuzo ezibaluleke kakhulu.
Isibonelo, ukuguqulwa kwegciwane le- CFTR kuhlotshaniswa nezinhlobo ezithile zokungazalwa komuntu. Ibuye ifakwe nesimo esibi, i-cystic fibrosis.
Uma nje ubaba ephethe i-CFTR gene mutation, kukhona ingozi yokudlulisela ukungabi namuntu kwengane yakhe. Uma bobabili ubaba nomama bengabathwali bokuguqula izakhi ze-CFTR, kune-1 ku-4 amathuba azoba nengane nge-cystic fibrosis.
Uma umbhangqwana ucabangela i-IVF nge-ICSI, ingozi yokudlulisa isimo sezakhi zofuzo iphezulu kakhulu kunayo i-IVF evamile noma ukukhulelwa kwemvelo.
Lokhu kungenxa yokuthi nge-IVF evamile, isidoda sifakwa esitsheni se-petri neqanda, futhi inqola "eqinile" yinsuku.
Njengoba i-IVF-ICSI, i-sperm eyodwa ikhethiwe futhi igwetshwe ngqo eqandeni. Izimpikiswano zesithombo esinezakhi zofuzo ezithwala i-egg ekhuphuka iqanda ziphakeme kakhulu kule simo. Lokhu kuphakamisa ingozi yokudlula ezinye izinkinga zofuzo.
Izinketho uma Unengozi Ephezulu Ye-Genetic
Izinketho zakho zizoxhomeka kunoma yiziphi izingozi zofuzo obhekene nazo.
Kwezinye izimo, ukuxilongwa kwe-genetic inkinga noma ingozi kungenzeka ...
- ukuqinisekisa noma ukusiza ukwenza ucwaningo oluthile lwe-infertility
- ukwandisa ingozi yokukhulelwa kwesisu noma ukubeletha
- ukwandisa amathuba okuba nengane ene-genetic disorder
- ukwandisa ingozi yakho yokudlulisela ingane yakho enganeni yakho noma enganeni yakho
Umeluleki wezofuzo kufanele abukeze imiphumela yakho nawe.
Ngokuvamile, izinketho zakho zingabandakanya noma yikuphi okulandelayo:
Engeza i-pre-plantation diagnostic diagnosis (PGD ) ngaphambi kokwelapha kwakho kwe-IVF. Nge-PGD, umbungu okhulayo unesisindo esisodwa esisusiwe ukuze sivivinye ukuguqulwa kwezakhi zofuzo. (Ukukhipha leli cell akulimazi umbungu.) Imibungu ekhangayo kunazo zonke ingadluliselwa.
Labo abaneziphambeko zofuzo - eziningi zazo okungenzeka zingakaze zisinde - zilahlwa.
I-PGD inganciphisa ingozi yokukhulelwa kwesisu kwangaphambili futhi inganciphisa ingozi yezifo ezithile ezakhiwe. Kodwa ngisho ne-PGD, ukukhulelwa kanye nengane akuqinisekisiwe ukuba i-100% ephilayo ngokwezakhi zofuzo. Ungase uqhubeke uphazamise ngisho ne-PGD.
Abanye baziphatha ngokweqile noma benkolo ngokuphikisana nokuhlolwa kwe-PGD.
Khetha ukuvumela i-IVF-ICSI . Ngokuvamile, uma iqanda ne-sperm zihlanganiswa ndawonye, isidumbu esilula kakhulu kuphela singena ukungena futhi sivame iqanda. Ukukhetha okwemvelo kuqeda isidumbu esibuthakathaka, okungenzeka futhi sibe nesidoda esingafaneleki ngokwezakhi zofuzo.
I-IVF ne-ICSI, i-sperm ifakwe ngqo eqenjini. Ukukhethwa kwemvelo akunakwenzeka. Lokhu kungandisa ingozi yokudluliswa kwezakhi zofuzo.
Unganquma ukungena engozini bese ugwema IVF-ICSI. Kunalokho, ungase ...
- zama i-IVF evamile (nakuba kungase ibe nezinga eliphansi lokuphumelela)
- unqabe ukwelashwa
- ukhethe umnikezeli wesilisa noma umbungu esikhundleni
Qhubeka ukwelashwa , ungayinaki ingozi ekhulayo yokudlulisa isimo sezakhi zofuzo noma ukungabi namuntu enganeni yakho.
Ukubeka engozini yokudlula isimo akusona isiqinisekiso ongayenza.
Khuluma nomeluleki wezofuzo ukuze wenze isinqumo esinolwazi.
Khetha ukusebenzisa umnikezeli wesilisa, umnikelo weqanda, noma umnikezeli wombungu. Yiqiniso, ngisho nama-gamer gamer angakwazi ukuphatha ukukhubazeka kwezakhi zofuzo. Abanikeli bavame ukuhlolwa, kodwa akukho okukhethwa kukho okungengozini.
Uma ukhetha iqanda noma umnikezeli wesilisa, kubalulekile ukuthi umnikeli uhlolwe isifo sofuzo osengozini yokudlula.
Ukuphishekela ukutholwa noma ukuphila okungenabantwana. Ngemuva kokuthola imiphumela yokuhlola izakhi zofuzo, ezinye imibhangqwana inquma ukwamukela. Abanye banquma ukuyeka ukuzama ukuba nomntwana futhi baphile ukuphila okungenakho ingane.
Ukucabangela ngokomzwelo nge-Genetic Counseling
Ukuthola imiphumela ye-karyotyping yezofuzo kungaba ngokomzwelo futhi kunzima.
Ngezinye izikhathi, imiphumela ingakusiza wenze ukhetho mayelana nokwelashwa kwakho. Ngezinye izikhathi, akukho okuningi okungenziwa ngolwazi. Lokhu kungabangela ukucindezeleka ngokomzwelo, ngaphandle kwesizathu sangempela.
Izinkolelo zakho ezingokwenkolo zingase zinciphise indlela ukululeka kokwelapha okuzosiza ngayo.
Kubalulekile ukuthi uqonde ukuthi yiluphi ukwaziswa okwelufuzo lwezofuzo oluzokunika ulwazi nokuthi ngabe ungakwenza yini ngaphambi kokuba uhlole.
Ngaphambi kokuba uvumelane nokuhlola, cela ukukhuluma nomeluleki wezakhi zofuzo. Bangakwazi ukuchazela ubuhle nokuqeda ukuhlolwa nokusiza ukuthi unqume ukuthi ukuhlolwa kuqondakala yini wena nomlingani wakho.
Futhi, qiniseka ukuthi kuzoba nomeluleki wezakhi zofuzo ozokwazi ukuxoxa nganoma yimiphi imiphumela.
Imithombo:
I-CFTR: Izilwanyana. I-Genetics Home Reference. Http://ghr.nlm.nih.gov/gene/CFTR
I-Cystic Fibrosis: Ukuhlolwa Kwesandulela Ngaphambi Kokubeletha Nokuxilongwa. FAQ171, February 2016. I-ACOG.org. Kufinyelelwe ngo-Februwari 18, 2016. http://www.acog.org/Patients/FAQs/Cystic-Fibrosis-Prenatal-Screening-and-Dagnosis
UDohle GR1, DJ Halley, Van Hemel JO, van den Ouwel AM, Pieters MH, Weber RF, Govaerts LC. "Izifo zengozi zofuzo emadodeni angenalutho ane-oligozoospermia enamandla ne-azoospermia." Uhlambalaza. 2002 Jan; 17 (1): 13-6.
Ngaphambili, Carlo; I-Ferlin, i-Alberto; Gianaroli, Luca; UDallapiccola, uBruno. " Imihlahlandlela yokusetshenziswa okufaneleko kwezivivinyo zofuzo emibhangqwaneni engapheli. " I- European Journal of Human Genetics . May 2002, uMqulu 10, Inombolo 5, Amakhasi 303-312.
I-Karyotyping. I-MedLine Plus. http://www.nlm.nih.gov/medlineplus/article/003935.htm
I-Klinefelter syndrome. I-MedLine Plus. http://www.nlm.nih.gov/medlineplus/article/000382.htm
Otani T1, Roche M, Mizuike M, Colls P, Escudero T, Munné S. "Ukuxilongwa kwe-pre-plantation ye-genetic ukuthuthukisa kakhulu ukukhulelwa kwemithwalo ye-translocation nomlando wokukhulelwa kwesisu okuphindaphindiwe nokukhulelwa okungaphumeleli." I- Reprod Biomed Online . 2006 Dec; 13 (6): 869-74. http://www.rbmojournal.com/article/S1472-6483(10)61037-1/abstract
Rubio C1, Simón C, Vidal F, Rodrigo L, Pehlivan T, Remo J, Pellicer A. "I-Chromosomal engavamile nokuthuthukiswa kombungu kumibhangqwana ephindaphindiwe yokukhulelwa komzimba." U- Hum Reprod . 2003 Jan; 18 (1): 182-8.