I-karyotyping ye-Genetic-eyaziwa nangokuthi uhlalutyo lwe-chromosome-luvavanyo oluya kubonisa ukungaqhelekanga kwemfuza ethile. Ingasetyenziselwa ukuqinisekisa okanye ukuxilonga isifo somzimba okanye izifo. Okanye, ukuvavanywa kungabonisa ukuba isibini sisesichengeni sokuba nomntwana onesifo somzimba okanye i-chromosomal disorder.
Ngokomzekelo, i-karyotyping ingabonisa ukuba iqabane lamadoda linalo i-Klinefelter syndrome
Amadoda ane-Klinefelter syndrome anokwakheka kwe-X i-chromosome kwi-DNA yawo (esikhundleni sokuba ngu-XY kuphela anama-XXY), kwaye ayengenasiphelo.
Ugqirha wakho unokuncoma i-karyotyping yemfuza ukuba:
- Awunakukwazi ukukhulelwa ngaphezu konyaka .
- Uye waba namava emibini okanye ngaphezulu okulandelanayo.
- Uye wazalwa ngokuzalwa kwangaphantsi.
- Umlingani wesilisa akanayo inambuzane kwimbilini yakhe okanye isibalo esiphantsi kakhulu sembewu . (Eyaziwa nangokuthi azoospermia okanye oligozoospermia enzima.)
- Umlingani wesetyhini uye wafumanisa ukuba unesisiseko sokungasebenzi kwe-ovarian. (Eyaziwa nangokuthi i-POI, ukungakwazi ukusebenza kwe-ovarian eyintloko, okanye i-POF, ukuhluleka kwe-ovarian ngaphambi kwexesha.)
I-karyotyping ye-Genetic ingadingeka ngaphambi kokufumana iteknoloji yokuzala incedisayo, kuquka i- IUI okanye i- IVF. Oku kuyinyani ngokukhethekileyo kwabo bacinga i- IVF nge-ICSI , okwandisa ingozi yokudlulela kwindoda engenasifo kunye nezinye izifo eziphathekayo.
Uvavanyo luyenziwe njani
Izibini ezingenabantwana, uvavanyo luvame ukuqhutyelwa nge-draw draw, ukusuka kwimbini yamadoda kunye nabesifazane.
Iisampula zegazi ziyacutshungulwa kwibhuyibhile.
Iiseli ezivela kwisampuli yegazi zifakwe kwisitya esibalulekileyo ukuze sikhuthaze ukuba sikhule. Emva kokuba iiseli zifikelela kwisigaba esithile sokukhula, iiseli zitshatyalaliswe kwaye zifundwe phantsi kwe-microscope.
Uchwepheshe webhanki uhlola ubungakanani beeselingi kunye nesimo. Kwakhona bathabatha umfanekiso weeseli baze babale inani lama-chromosomes kwiiseli.
Ifoto ekhethekileyo yenza ukuba amalungiselelo e-chromosome ahlolwe.
Kutheni ukululekwa nge-Genetic Kwangathi Kunconywe ngaphambi kokuPhathwa kweZenzalo
Uvavanyo lwe-Genetic lunokufumana isizathu sokungabikho kokuzalwa okanye ukulahleka okuphindaphindiweyo. Ukwazi ukuba kutheni ungakwazi ukukhulelwa, okanye kutheni ungaqhubeki, ungamnceda ugqirha wakho akucebise iindlela zokunyanga ezingcono .
Esinye isizathu sokwenza uvavanyo lwezofuzo ngaphambi kokuba unyango lwenkcenkceshelo kukugwema ukudlulela kwisiphene sokuzalwa komntwana kumntwana ozayo.
Ezinye izigulo zentsholongwane zingabangela ukungabikho komntwana xa zikhona kumzali omnye, kodwa, xa abazali bobabini bephethe ukuguqulwa komzimba, banokudlulisela emntwaneni wabo imeko ebalulekileyo yezofuzo.
Ngokomzekelo, ukuguqulwa kwamagciwane e- CFTR kudibene neentlobo ezithile zokungabikho komntu. Kudibaniswa neemeko ezinzulu, i-cystic fibrosis.
Ukuba nje ubaba unomdla wokuguqula izakhi ze-CFTR, kukho umngcipheko wokudlulela kwindoda engenalo umntwana. Ukuba bobabili uyise nomama bathwala i-CFTR iguqula izakhi ze-gene, kukho i-1 kwithuba eli-4 abaza kuba nomntwana nge-cystic fibrosis.
Ukuba isibini sicinga i-IVF nge-ICSI, umngcipheko wokudlulela kwi-genetic condition iphezulu kakhulu kunokuba i-IVF okanye i-conceptual nature.
Oku kungenxa yokuba nge-IVF rhoqo, isidoda sifakwa kwisitya se-petri kunye neqanda, kwaye iinqaba "ezinamandla".
Nge-IVF-ICSI, i-sperm esisodwa ikhethiweyo kwaye ijojowe ngqo kwiqanda. Iingxaki zezinto eziphathekayo "ezibuthathaka" isilwanyana esisondeza iqanda liphezulu kakhulu kule meko. Oku kuphakamisa umngcipheko wokudlula kwiingxaki ezithile zofuzo.
Izinketho Ukuba Unomngcipheko ophezulu weGenesis
Izinketho zakho ziya kuxhomekeka kwingozi yemfuza oyijongene nayo.
Kwezinye iimeko, ukuxilongwa kweengxaki zemfuzo okanye umngcipheko ...
- uqinisekise okanye uncede wenze ukuxilonga okuthe ngqo kwintsholongwane
- ukwandisa umngcipheko wokutshatyalaliswa kwesisu okanye ukuzala
- ukwandisa umngcipheko wakho wokuba nomntwana onesifo esithile somzimba
- ukwandisa umngcipheko wakho wokudlulela kumntwana okanye umfazi osweleyo kumntwana wakho
Umcebisi wezofuzo kufuneka ahlole iziphumo zakho nawe.
Ngokuqhelekileyo, ukhetho lwakho lungabandakanya nayiphi na elandelayo:
Yongeza i-diagnostic genetic diagnostic (PGD ) phambi kwe-IVF yakho. Nge-PGD, i-embryo ekhulayo inokususwa kweseli enye ukuze ihlolwe ukutshintshwa kwemfuza. (Ukususa le selesi akulimazi imbungu.) Iimbrusi ezikhangeleleneyo ziyakudluliselwa.
Abo baneziphene zemizimba - ezininzi zazo ezingenakuze ziphile-zilahlwa.
I-PGD inokunciphisa umngcipheko wokuphuphuma kwesisu kwangaphambili kwaye inganciphisa umngcipheko weziphene ezithile. Kodwa nangona i-PGD, ukukhulelwa kunye nomntwana akaqinisekanga ukuba yi-100% yemfuza ngokomzimba. Usenokuba usaphazamisekile kunye nePGD.
Abanye baziphatha ngokusemthethweni okanye benkolo ngokuchasene novavanyo lwe-PGD.
Khetha ukulahla i-IVF-ICSI . Ngokuqhelekileyo, xa iqanda kunye nesidoda zihlanganiswa ndawonye, i-sperm kuphela inokungena ngaphakathi kwaye iqule iqanda. Ukukhethwa kwezinto eziqhelekileyo kuphelisa ubunzima obunobuncwane, obunokuthi bube nomoya wesiphene.
I-IVF ne-ICSI, i-sperm ifakwe ngqo kwiqanda. Ukukhethwa kwemvelo akunakwenzeka. Oku kunokwandisa umngcipheko wokudlulisa ukuguqulwa kwemfuza.
Unokugqiba isigqibo sokuba ungathathi ingozi kwaye ugweme ii-IVF-ICSI. Kunoko, unako ...
- uzame rhoqo ii-IVF (nangona ingaba nezinga eliphantsi lokuphumelela)
- ukuyeka unyango
- ukhethe umsizi okanye umxhasi wombindi esikhundleni
Hamba unyango , ungayinaki ingozi yokwandisa imfuyo okanye ukungafunyanwa komntwana kumntwana wakho.
Ukusemngciphekweni wokudlula imeko ayikho isiqinisekiso esiza kuyenza .
Thetha kumcebisi wezofuzo ukuze wenze isigqibo esinolwazi.
Khetha ukusebenzisa umniki wesilisa, umnikezi weqanda, okanye umnikeli wombindi. Ngokuqinisekileyo, kwanokuba i-gametes yokunikela iyakwazi ukuthwala iimpazamo ze-genetic. Abaxhasi bavame ukuhlolwa, kodwa akukho khetho ayinako ingozi.
Ukuba ukhetha iqanda okanye umnikeli wesilisa, kubalulekile ukuba umnikeli uvavanywe kwisifo somfuzo osengozini yokudlula.
Ukuphinda ulandelelwano okanye ubomi obungabantwana. Emva kokufumana iziphumo zokuvavanya i-genetic, ezinye izibini zenza isigqibo sokwamkela. Abanye banqume ukuyeka ukuzama ukuba nomntwana kwaye baphile ubomi obungabantwana.
Ukuqiqa ngeengqondo kunye neengcebiso zeGenesis
Ukufumana iziphumo ze-karyotyping yezofuzo zingaba nemvakalelo kwaye kunzima.
Ngamanye amaxesha, iziphumo zinokukunceda wenze ukhetho malunga nonyango lwakho. Amanye amaxesha, akukho nto enokuyenza enolwazi. Oku kunokubangela uxinzelelo lwengqondo, ngaphandle kwesizathu.
Izinkolelo zakho zonqulo zinganciphisa nendlela ekuncedeni ngayo i-genetic counseling.
Kubalulekile ukuba uqonde ukuba uluphi ulwaziso lwezofuzo oluza kukunika kwaye nokuba unokwenza oko phambi kokuba uqhube uvavanyo.
Ngaphambi kokuba uvumele ukuvavanya, cela ukuba uthethe ngomcebisi wezofuzo. Bayakwazi ukuchaza iingxaki kunye nokuxhamla kokuvavanya kwaye bancede ukuba unqume ukuba ukuvavanya kunengqondo kuwe kunye neqabane lakho.
Kwakhona, qiniseka ukuba kuya kuba nomcebisi wezofuzo ezikhoyo ukuxoxa ngazo nayiphi na iziphumo.
Imithombo:
CFTR: iGenesis. I-Reference Reference Home. Http://ghr.nlm.nih.gov/gene/CFTR
I-Cystic Fibrosis: Ukuhlolwa kweNkathazo yokuBantwana kunye nokuHlola. FAQ171, Februwari 2016. I-ACOG.org. Kufumaneka ngoFebhuwari 18, 2016. http://www.acog.org/Patients/FAQs/Cystic-Fibrosis-Prenatal-Screening-and-Diagnosis
UDohle GR1, DJ Halley, Van Hemel JO, van den Ouwel AM, Pieters MH, Weber RF, iGovaerts LC. "Izifo zobomi be-Genetic kumadoda angenabantwana abane-oligozoospermia enamandla kunye ne-azoospermia." U-Hum Reprod. 2002 Jan; 17 (1): 13-6.
Ngaphambili, uCarlo; Ferlin, Alberto; Gianaroli, uLuca; Dallapiccola, uBruno. " Izikhokelo zokusetyenziswa ngokufanelekileyo kweempawu zofuzo kwizibini ezingapheliyo. " I- European Journal ye-Human Genetics . NgoMeyi 2002, uMqulu 10, iNombolo 5, iphepha 303-312.
Karyotyping. MedLine Plus. http://www.nlm.nih.gov/medlineplus/ency/article/003935.htm
I-Klinefelter syndrome. MedLine Plus. http://www.nlm.nih.gov/medlineplus/ency/article/000382.htm
Otani T1, Roche M, Mizuike M, Colls P, Escudero T, Munné S. "Ukuxilongwa kwe-genetic pre-plantation kukuphucula kakhulu ukukhulelwa kweziphumo zokuthuthwa kwezinto ezifudumeleyo kunye nokukhulelwa okungaqhelekanga kunye nokukhulelwa okungaphumelelanga." 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, Remohí J, Pellicer A. "I-Chromosomal engafanelekiyo kunye nokuphuhliswa kwembumbulu kwizibini ezithintekayo." U- Hum Reprod . 2003 uJan; 18 (1): 182-8.