Karyotyping kwayoyin halitta-wanda aka sani da bincike-binciken chromosome-yana gwaji wanda zai iya bayyana wasu nau'ikan kwayoyin halitta. Ana iya amfani dashi don tabbatarwa ko gano asalin kwayar cuta ko cuta. Ko kuma, jarrabawar na iya nuna cewa wata ma'aurata suna fuskantar haɗari don samun ɗa tare da cututtukan kwayoyin ko cuta na chromosomal.
Alal misali, karyotyping na iya bayyana cewa abokin tarayya yana da ciwon ƙwayar Klinefelter, ƙwayar kwayar cutar sau da yawa ba a bincikarsa ba har sai mutum ya sami rashin haihuwa .
Maza da cutar Klinefelter sun sami karin X a cikin DNA (maimakon kasancewa XY kawai su ne XXY), kuma basu da yawa.
Kwararku na iya bada shawara ga karyotyping kwayoyin idan:
- Ba ku iya yin ciki ba har shekara guda .
- Kuna iya samun kuskuren biyu ko fiye.
- Kuna iya samun haihuwa.
- Ma'aurata ba shi da jini a cikin maniyyi ko ƙananan ƙwayoyin jini . (Har ila yau aka sani da azoospermia ko mai girma oligozoospermia.)
- An gano mace ta mace tare da ƙwayar mata na farko. (Har ila yau aka sani da POI, ƙananan ganyayyaki na ovarian , ko POF, rashin cin ganyayyaki na ovarian.)
Karyotyping halitta zai iya buƙatar kafin karɓar fasahar haɓaka ta taimakawa, ciki har da IUI ko IVF. Wannan shi ne ainihin gaskiya ga wadanda ke la'akari da IVF tare da ICSI , wanda zai kara hadarin wucewa akan rashin haihuwa da kuma wasu cututtukan kwayoyin halitta.
Ta yaya aka gwada gwajin
Ga ma'aurata marasa jima'i, ana yin gwajin ta hanyar zubar da jini, daga ma'aurata maza da mata.
Ana aiwatar da samfurorin jini a cikin wani lab.
Ana sanya sassan daga samfurin jini a cikin akwati na musamman don karfafawa su girma. Da zarar kwayoyin sun kai wani mataki na ci gaba, ana samun sutura a jikin kwayoyin halitta.
Mafarin gwadawa yana gwada kwayoyin 'girman da siffar. Sun kuma ɗauki hoto na kwayoyin kuma sun ƙidaya adadin chromosomes a cikin kwayoyin.
Hoton na musamman ya sa ya kamata a kimanta shirye-shiryen ɓangaren chromosome.
Me ya sa za a iya ba da shawarwari na kwayoyin halitta kafin magani
Kwafin gwaji na iya samo dalilin rashin lalacewar ku ko asarar kuɗi. Sanin abin da ya sa ba za ka iya yin juna biyu ba, ko kuma dalilin da ya sa kake ci gaba da ɓatawa, zai iya taimaka wa likita don bada shawara mafi kyau .
Wani dalili na yin gwajin kwayoyin kafin yin amfani da haihuwa shi ne don kauce wa wucewa a kan haihuwar haihuwar haihuwa zuwa yaro mai zuwa.
Wasu maye gurbin kwayoyin halitta na iya haifar da rashin haihuwa lokacin da yake cikin iyaye guda, amma, idan iyaye biyu suna ɗauke da maye gurbi, zasu iya wucewa ga ɗayansu a cikin yanayin da yafi girma.
Alal misali, maye gurbin FCTR yana hade da wasu nau'in haihuwa mara haihuwa. Haka kuma an hade da yanayin tsanani, cystic fibrosis.
Idan kawai mahaifin yana da maye gurbi na CFTR, akwai haɗarin wucewa ga namiji mara haihuwa zuwa ga yaro. Idan duka mahaifinsa da mahaifiyar su ne masu sintiri na maye gurbin CFTR, akwai 1 cikin 4 da za su sami ɗa tare da cystic fibrosis.
Idan ma'aurata suna la'akari da IVF tare da ICSI, haɗarin wucewa akan yanayin kwayar halitta yafi girma fiye da yadda yake da IVF ko kuma tare da tunanin halitta.
Wannan shi ne saboda tare da IVF na yau da kullum, an sanya sperm a cikin takalmin petri tare da kwai, kuma "sperm" mafi karfi "ya sami nasara.
Tare da IVF-ICSI, an zaɓi sifa guda ɗaya kuma an sanya shi cikin cikin kwai. Halin da aka samu a cikin kwanciya mai rauni "gazawa" ya fi girma a cikin wannan halin. Wannan yakan haifar da haɗarin wucewa akan wasu matsalolin kwayoyin halitta.
Zaɓuɓɓuka idan Kana da Girman Halitta
Zaɓinku zai dogara ne akan abin da kwayoyin hadarin kuke fuskanta.
A wasu lokuta, ganewar asalin kwayar halitta ko hadarin iya ...
- tabbatarwa ko taimakawa wajen samar da ƙimar ganewar asiri
- ƙara yawan haɗari na ɓarna ko haihuwa
- ƙara yawan haɗari na ciwon yaro da ƙwayar cuta ta musamman
- ƙara yawan haɗarin wucewa akan rashin haihuwa ko namiji haihuwa zuwa ga yaro
Dole ne mai bayar da shawara mai tsara shawara ya sake duba sakamakonku tare da ku.
Kullum magana, zaɓuɓɓukanku zasu haɗa da waɗannan daga cikin waɗannan:
Ƙara tsinkayen kwayoyin halittar jiki (PGD ) zuwa tsarin likita na IVF. Tare da PGD, amfrayo mai tasowa yana ɗauke da tantanin halitta daya don gwada kwayoyin maye gurbi. (Ana cire wannan tantanin halitta ba zai cutar da amfrayo ba).
Wadanda ke da lahani na kwayoyin - wanda yawa daga cikinsu ba su taba tsira ba - an jefa su.
PGD na iya rage haɗari na farkon fashewa kuma zai iya rage haɗarin wasu cututtukan kwayoyin halitta. Amma ko da tare da PGD, ba a tabbatar da daukar ciki da yaron 100% lafiya. Kuna iya ɓarna ko da PGD.
Wasu suna da haɓaka ko haɗin addini ga gwajin PGD.
Zaba don barin IVF-ICSI . Yawancin lokaci, lokacin da aka tara man da maniyyi, kawai mai kula da lafiyar jiki zai iya tafiyar da takin kwai. Zabin yanayi ya kawar da maniyyi mai raunana, wanda zai iya kasancewa asalin halitta.
Tare da IVF tare da ICSI, maniyyi suna kai tsaye a cikin kwai. Zabin yanayi ba zai iya faruwa ba. Wannan na iya kara haɗarin wucewa akan maye gurbin kwayoyin halitta.
Kuna iya yanke shawara kada ku dauki hadarin kuma ku guje wa IVF-ICSI. Maimakon haka, za ku iya ...
- yi ƙoƙari na IVF (ko da yake yana iya samun ƙimar nasara a gare ka)
- dakatar da magani
- zabi wani maniyyi ko mai bada tallafin embryo a maimakon
Ci gaba tare da magani , rashin kula da ƙarin ƙimar da ke wucewa ga yanayin jinsi ko namiji mara haihuwa ga ɗanka.
Kasancewa cikin hadari don wucewa wani yanayin ba garanti kake so ba .
Ka yi magana da wani mai ba da shawara na kodayake don ka iya yanke shawara.
Zaɓi don amfani da mai bayarwa, mai bada kyauta, ko mai bada tallafin embryo. Ko da yake, ko da magungunan kyauta zai iya ɗaukar nauyin kwayoyin. Ana ba da kyauta ga masu bayarwa, amma babu zabi ba shi da hadari.
Idan kana zabar kwai ko maniyyi na mahaifa, yana da mahimmanci da aka gwada mai bayarwa ga cututtukan kwayoyin da ke cikin haɗari don sauka.
Yi bi tallafi ko rayuwa marar rai. Bayan karbar sakamakon gwajin kwayoyin, wasu ma'aurata zasu yanke shawara. Wasu sun yanke shawarar dakatar da ƙoƙari su haifi ɗa kuma su zauna a rayuwa marar rai.
Ra'ayoyin Motsa jiki tare da Tattaunawar Halitta
Samun sakamakon sakamakon karyotyping na kwayoyin halitta na iya zama tunanin da wuya.
Wani lokaci, sakamakon zai iya taimaka maka yin zabi game da maganinka. Sauran lokuta, babu yawan abin da za'a iya yi tare da bayanin. Wannan na iya haifar da baƙin ciki, ba tare da wani dalili ba.
Addini na addininku na iya ƙayyade yadda za ku kasance da shawarwari na kwarewa don ku.
Yana da mahimmanci ku fahimci abin da shawarwari na kwayoyin halitta zai ba ku kuma ko kuna iya yin aiki a gaban ku kafin ku gwada.
Kafin ka yarda da gwaji, nemi yin magana da mai ba da shawara. Za su iya bayyana wadatar da kwarewa na gwadawa kuma zasu taimake ka ka yanke shawara idan gwaji yana da mahimmanci ga kai da abokin tarayya.
Har ila yau, tabbata cewa za'a sami shawara mai kwarewa don tattauna duk wani sakamako.
Sources:
CFTR: Yanayin. Ma'anar Gidajen Genetics. Http://ghr.nlm.nih.gov/gene/CFTR
Fibrosis na Cystic: Shirye-shiryen hanzari da ganewa. FAQ171, Fabrairu 2016. ACOG.org. Samun damar shiga ranar 18 ga Fabrairu, 2016. http://www.acog.org/Patients/FAQs/Cystic-Fibrosis-Prenatal-Screening-and-Diagnosis
Dohle GR1, Halley DJ, Van Hemel JO, van den Ouwel AM, Pieters MH, Weber RF, Govaerts LC. "Halittar cututtukan kwayoyin halitta a cikin yara marasa lafiya da mai tsanani da oligozoospermia da azoospermia." Hum Reprod. 2002 Jan, 17 (1): 13-6.
Foresta, Carlo; Ferlin, Alberto; Gianaroli, Luca; Dallapiccola, Bruno. " Sharuɗɗa don yin amfani da gwaje-gwaje na kwayoyin halitta a cikin ma'aurata marasa amfani. " Jaridar Turai ta Human Genetics . Mayu 2002, Volume 10, Lamba 5, Shafuka 303-312.
Karyotyping. MedLine Plus. http://www.nlm.nih.gov/medlineplus/ency/article/003935.htm
Klinefelter ciwo. MedLine Plus. http://www.nlm.nih.gov/medlineplus/ency/article/000382.htm
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Rubio C1, Simón C, Vidal F, Rodrigo L, Pehlivan T, Remohí J, Pellicer A. "Abun abubuwan da ke faruwa a cikin kullun da kuma amfrayo a cikin halayen ma'aurata." Hum Refrod . 2003 Janairu 18 (1): 182-8.