Ukuhlolwa kwe-Karyotype Genetic

-Delile

• Kuyini ukuhlolwa kwekaryotype?
• Kusetshenziselwa ini?
• Kungani ngidinga ukuhlolwa kwekaryotype?
• Kwenzekani ngesikhathi sokuhlolwa kwekaryotype?
• Ngabe kukhona engizodinga ukukwenza ukulungiselela isivivinyo?
• Ingabe zikhona izingozi esivivinyweni?
• Isho ukuthini imiphumela?
• Ngabe kukhona okunye engidinga ukukwazi ngokuhlolwa kwe-karyotype?
• Izinkomba

Kuyini ukuhlolwa kwekaryotype?

Ukuhlolwa kwe-karyotype kubheka usayizi, ukuma, nenombolo yama-chromosomes akho. Ama-Chromosomes ayizingxenye zamaseli akho aqukethe izakhi zofuzo zakho. Izakhi zofuzo ziyingxenye ye-DNA edluliselwe isuka kumama nobaba wakho. Ziphethe imininingwane enquma izici zakho ezihlukile, njengokuphakama nombala wamehlo.

Ngokuvamile abantu banama-chromosomes angama-46, ahlukaniswe ngamabili angama-23, esitokisini ngasinye. Elinye lama-chromosomes ngalinye livela kunina, kanti elinye iqembu livela kuyihlo.

Uma unama-chromosomes amaningi noma ambalwa kunama-46, noma uma kukhona okungajwayelekile ngosayizi noma ukuma kwama-chromosomes akho, kungasho ukuthi unesifo sofuzo. Ukuhlolwa kwe-karyotype kuvame ukusetshenziselwa ukusiza ukuthola ukukhubazeka kofuzo enganeni ekhulayo.

Amanye amagama: ukuhlolwa kofuzo, ukuhlolwa kwe-chromosome, izifundo ze-chromosome, ukuhlaziywa kwe-cytogenetic

Kusetshenziselwa ini?

Ukuhlolwa kwe-karyotype kungasetshenziselwa:

• Bheka ingane engakazalwa ukuthi ayinazo yini iziyaluyalu zofuzo
• Thola isifo sofuzo enganeni noma enganeni esencane
• Thola ukuthi ngabe ukukhubazeka kwe-chromosomal kuvimbela owesifazane ekukhulelweni noma kubangela ukuphuphuma kwesisu
• Hlola umntwana osanda kuzalwa (umntwana owafa sekwedlule isikhathi ekhulelwe noma ngesikhathi sokuzalwa) ukubona ukuthi ukukhubazeka kwe-chromosomal kwakuyimbangela yokufa
• Bona ukuthi unenkinga yofuzo engadluliselwa ezinganeni zakho
• Xilonga noma wenze uhlelo lokwelashwa lwezinhlobo ezithile zomdlavuza nokuphazamiseka kwegazi

Kungani ngidinga ukuhlolwa kwekaryotype?

Uma ukhulelwe, ungafuna ukuthola ukuhlolwa kwe-karyotype kwengane yakho engakazalwa uma unezici ezithile zobungozi. Lokhu kufaka phakathi:

• Iminyaka yakho. Ingozi ephelele yokukhubazeka kokuzalwa kofuzo incane, kepha ingozi iphezulu kwabesifazane abanezingane ezineminyaka engama-35 noma ngaphezulu.
• Umlando womndeni. Ingozi yakho iyanda uma wena, umlingani wakho, kanye / noma enye yezingane zakho inesifo sofuzo.

Ingane yakho noma ingane yakho encane ingadinga ukuhlolwa uma inezimpawu zesifo sofuzo. Kunezinhlobo eziningi zokuphazamiseka kofuzo, ngasinye sinezimpawu ezihlukile. Wena nomhlinzeki wakho wokunakekelwa kwezempilo ningaxoxa ngokuthi ukuhlolwa kunconyiwe yini.

Uma ungowesifazane, ungadinga ukuhlolwa kwe-karyotype uma ngabe unenkinga yokukhulelwa noma uke waphuphunyelwa yizisu kaningana. Ngenkathi ukukhulelwa kwesisu okukodwa kungavamile, uma ngabe uke waba neziningana, kungahle kube ngenxa yenkinga ye-chromosomal.

Ungadinga futhi ukuhlolwa kwe-karyotype uma unezimpawu noma utholwe une-leukemia, lymphoma, noma i-myeloma, noma uhlobo oluthile lwe-anemia. Lezi zinkinga zingadala ushintsho lwe-chromosomal. Ukuthola lezi zinguquko kungasiza umhlinzeki wakho ukuxilonga, ukuqapha, kanye / noma ukwelapha lesi sifo.

Kwenzekani ngesikhathi sokuhlolwa kwekaryotype?

Ukuhlolwa kwe-karyotype, umhlinzeki wakho uzodinga ukuthatha isampula lamaseli akho. Izindlela ezivame kakhulu zokuthola isampula zifaka:

• Ukuhlolwa kwegazi. Kulesi sivivinyo, uchwepheshe wezokunakekelwa kwempilo uzothatha isampuli yegazi emthanjeni osengalweni yakho, esebenzisa inaliti encane. Ngemuva kokuthi kufakwe inaliti, kuzoqoqwa inani elincane legazi kufakwe ithubhu yokuhlola noma isitsha. Ungase uzizwe uluma kancane lapho inaliti ingena noma iphuma. Lokhu ngokuvamile kuthatha imizuzu engaphansi kwemihlanu.
• Ukuhlolwa ngaphambi kokubeletha nge-amniocentesis noma i-chorionic villus sampling (CVS). I-chorionic villi yizithombo ezincane ezitholakala ku-placenta.

Okwe-amniocentesis:

• Uzolala ngomhlane etafuleni lezivivinyo.
• Umhlinzeki wakho uzohambisa idivayisi ye-ultrasound esiswini sakho. I-Ultrasound isebenzisa amaza omsindo ukuhlola ukuma kwesibeletho sakho, i-placenta, nengane.
• Umhlinzeki wakho uzofaka inaliti encane esiswini sakho bese ekhipha inani elincane le-amniotic fluid.

I-Amniocentesis ivame ukwenziwa phakathi kweviki le-15 kanye nelama-20 lokukhulelwa.

Okwe-CVS:

• Uzolala ngomhlane etafuleni lezivivinyo.
• Umhlinzeki wakho uzohambisa idivayisi ye-ultrasound esiswini sakho ukuhlola isikhundla sesibeletho sakho, i-placenta, nengane.
• Umhlinzeki wakho uzoqoqa amaseli kusuka ku-placenta ngenye yezindlela ezimbili: kungaba ngomlomo wesibeletho sakho ngeshubhu elincanyana elibizwa nge-catheter, noma ngenaliti ezacile esiswini sakho.

I-CVS ivame ukwenziwa phakathi kweviki le-10 nele-13 lokukhulelwa.

I-Bone Marrow Aspiration ne-Biopsy. Uma uhlolwe noma welashelwa uhlobo oluthile lomdlavuza noma ukuphazamiseka kwegazi, umhlinzeki wakho angadinga ukuthatha isampula lomnkantsha wakho. Kulolu vivinyo:

• Uzolala ngohlangothi lwakho noma esiswini sakho, kuya ngokuthi yiliphi ithambo elizosetshenziselwa ukuhlolwa. Iningi lokuhlolwa komnkantsha wamathambo lithathwa ethangeni lesinqe.
• Isiza sizohlanzwa ngesibulali magciwane.
• Uzothola umjovo wesixazululo esikindayo.
• Lapho indawo isikindiki, umhlinzeki wezempilo uzothatha isampula.
• Ngokulangazelela umnkantsha wethambo, ovame ukwenziwa kuqala, umhlinzeki wezokunakekelwa kwempilo uzofaka inaliti ngethambo akhiphe uketshezi lomnkantsha kanye namaseli. Ungabuzwa ubuhlungu obubukhali kodwa obufushane lapho kufakwa inaliti.
• Nge-biopsy yomnkantsha wamathambo, umhlinzeki wezokunakekelwa kwempilo uzosebenzisa ithuluzi elikhethekile elizisontela ethanjeni ukukhipha isampula lezicubu zomnkantsha. Ungazizwa unengcindezi ethile kusayithi ngenkathi kuthathwa isampula.

Ngabe kukhona engizodinga ukukwenza ukulungiselela isivivinyo?

Awudingi ukulungiswa okukhethekile kokuhlolwa kwe-karyotype.

Ingabe zikhona izingozi esivivinyweni?

Kunengozi encane kakhulu yokuhlolwa kwegazi. Ungaba nobuhlungu obuncane noma ukulimaza lapho kufakwe khona inaliti, kepha izimpawu eziningi ziyaphela ngokushesha.

Ukuhlolwa kwe-Amniocentesis ne-CVS imvamisa kuyizinqubo eziphephe kakhulu, kepha zinengozi encane yokubangela ukukhulelwa kwesisu. Khuluma nomhlinzeki wakho wezokunakekelwa kwempilo ngezingozi nezinzuzo zalezi zivivinyo.

Ngemuva kokufiswa komnkantsha kanye nokuhlolwa kwe-biopsy, ungazizwa uqine noma ubuhlungu endaweni yomjovo. Lokhu kuvame ukuphela ezinsukwini ezimbalwa. Umhlinzeki wakho wezokunakekelwa kwempilo angancoma noma anikeze umuthi wokuqeda izinhlungu ukusiza.

Isho ukuthini imiphumela?

Uma imiphumela yakho ibingajwayelekile (ibingeyona eyejwayelekile,) kusho ukuthi wena noma ingane yakho unama-chromosomes amaningi noma angaphansi kwama-46, noma kukhona okuthile okungavamile ngosayizi, ukwakheka, noma ukwakheka kwama-chromosomes akho eyodwa noma amaningi. Ama-chromosomes angajwayelekile angadala izinkinga ezahlukahlukene zezempilo. Izimpawu nobukhali buncike ekutheni yimaphi ama-chromosomes athintekile.

Ezinye izinkinga ezibangelwa ukukhubazeka kwe-chromosomal zifaka:

• I-Down syndrome, ukuphazamiseka okubanga ukukhubazeka kwengqondo nokubambezeleka kwentuthuko
• I-Edwards syndrome, ukuphazamiseka okudala izinkinga ezinzima enhliziyweni, emaphashini nasezinso
• I-Turner syndrome, ukuphazamiseka emantombazaneni okuthinta ukuthuthukiswa kwezici zabesifazane

Uma ngabe uhlolwe ngoba unohlobo oluthile lomdlavuza noma ukuphazamiseka kwegazi, imiphumela yakho ingakhombisa ukuthi ngabe isimo sakho sibangelwa isici se-chromosomal noma cha. Le miphumela ingasiza umhlinzeki wakho wokunakekelwa kwezempilo ukuthi akwenzele uhlelo oluhle kakhulu lwezokwelapha.

Funda kabanzi mayelana nokuhlolwa kwelabhorethri, ububanzi bezinkomba, nemiphumela yokuqonda.

Ngabe kukhona okunye engidinga ukukwazi ngokuhlolwa kwe-karyotype?

Uma ucabanga ngokuhlolwa noma uthole imiphumela engajwayelekile kuhlolo lwakho lwe-karyotype, kungasiza ukukhuluma nomeluleki wezofuzo.Umeluleki wezofuzo uchwepheshe oqeqeshwe ngokukhethekile kwezofuzo nasekuhloleni izakhi zofuzo. Angakuchazela ukuthi imiphumela yakho isho ukuthini, akuqondise ezinsizakalweni, futhi akusize wenze izinqumo ezinolwazi ngempilo yakho noma ngempilo yengane yakho.

Izinkomba

1. I-ACOG: Odokotela Bokunakekelwa Kwezempilo Kwabesifazane [i-Intanethi]. IWashington D.C .: American College of Obstetricians and Gynecologists; c2020. Ukuba Nengane Ngemuva Kobudala Bama-35: Ukuthi Ukuguga Kukuthinta Kanjani Ukuzala Nokukhulelwa; [kucashunwe ngo-2020 Meyi 12]; [cishe izikrini ezi-3]. Kutholakala kusuka: https://www.acog.org/patient-resources/faqs/pregnancy/having-a-baby-after-age-35-how-aging-affects-fertility-and-pregnancy
2. I-American Cancer Society [Inthanethi]. I-Atlanta: I-American Cancer Society Inc.; c2018. Uhlonza Kanjani I-Myeloid Leukemia ?; [kubuyekezwe 2016 Feb 22; kukhonjiwe ngo-2018 Jun 22]; [cishe izikrini ezi-4]. Kutholakala kusuka: https://www.cancer.org/cancer/chronic-myeloid-leukemia/detection-diagnosis-staging/how-diagnosed.html
3. I-American Cancer Society [Inthanethi]. I-Atlanta: I-American Cancer Society Inc.; c2018. Uvivinyo Lokuthola I-Multiple Myeloma; [kubuyekezwe i-2018 Feb 28; kukhonjiwe ngo-2018 Jun 22]; [cishe izikrini ezi-3]. Kutholakala kusuka: https://www.cancer.org/cancer/multiple-myeloma/detection-diagnosis-staging/testing.html
4. Inhlangano yaseMelika Yokukhulelwa [i-Intanethi]. I-Irving (TX): Inhlangano Yokukhulelwa yaseMelika; c2018. Amniocentesis; [kubuyekezwe i-2016 Sep 2; kukhonjiwe ngo-2018 Jun 22]; [cishe izikrini ezi-2]. Kutholakala kusuka: http://americanpregnancy.org/prenatal-testing/amniocentesis
5. Inhlangano yaseMelika Yokukhulelwa [i-Intanethi]. I-Irving (TX): Inhlangano Yokukhulelwa yaseMelika; c2018. Isampula seChorionic Villus: i-CVS; [kubuyekezwe i-2016 Sep 2; kukhonjiwe ngo-2018 Jun 22]; [cishe izikrini ezi-2]. Kutholakala kusuka: http://americanpregnancy.org/prenatal-testing/chorionic-villus-sampling
6. Izikhungo Zokulawula Nokuvimbela Izifo [i-Intanethi]. I-Atlanta: UMnyango Wezempilo Nezinsizakalo Zabantu e-U.S. Ukwelulekwa Ngokofuzo; [kubuyekezwe 2016 Mar 3; kukhonjiwe ngo-2018 Jun 22]; [cishe izikrini ezi-2]. Kutholakala kusuka: https://www.cdc.gov/genomics/gtesting/genetic_counselling.htm
7. Ukuhlolwa Kwelebhu Ku-inthanethi [i-Intanethi]. IWashington DC: I-American Association for Clinical Chemistry; c2001–2018. Ukuhlaziywa kweChromosome (Karyotyping); [kubuyekezwe i-2018 Jun 22; kukhonjiwe ngo-2018 Jun 22]; [cishe izikrini ezi-2]. Kutholakala kusuka: https://labtestsonline.org/tests/chromosome-analysis-karyotyping
8. Ukuhlolwa Kwelebhu Ku-inthanethi [i-Intanethi]. IWashington DC: I-American Association for Clinical Chemistry; c2001–2018. I-Down Syndrome; [kubuyekezwe i-2018 Feb 28; kukhonjiwe 2018 Jun 22]; [cishe izikrini ezi-2]. Kutholakala kusuka: https://labtestsonline.org/conditions/down-syndrome
9. IMayo Clinic [Inthanethi]. IMayo Foundation for Medical Education and Research; c1998–2018. I-Bops marrow biopsy kanye nesifiso: Ukubuka konke; I-2018 Jan 12 [icashunwe ngo-2018 Jun 22]; [cishe izikrini ezi-4]. Kutholakala kusuka: https://www.mayoclinic.org/tests-procedures/bone-marrow-biopsy/about/pac-20393117
10. IMayo Clinic [Inthanethi]. IMayo Foundation for Medical Education and Research; c1998–2018. I-leukemia engapheli emithambo yegazi: Ukuxilongwa nokwelashwa; I-2016 Meyi 26 [icashunwe ngo-2018 Jun 22]; [cishe izikrini ezi-5]. Kutholakala kusuka: https://www.mayoclinic.org/diseases-conditions/chronic-myelogenous-leukemia/symptoms-causes/syc-20352417
11. Uhlobo Lokuthengwa Kwamakhasimende we-Merck [Internet]. IKenilworth (NJ): IMerck & Co, Inc .; c2018. Ukuhlolwa Kwamathambo; [kucashunwe ngo-2018 Juni 22]; [cishe izikrini ezi-2]. Kutholakala kusuka: http://www.merckmanuals.com/home/blood-disorders/symptoms-and-diagnosis-of-blood-disorders/bone-marrow-examination
12. Uhlobo Lokuthengwa Kwamakhasimende we-Merck [Internet]. IKenilworth (NJ): IMerck & Co, Inc .; c2018. Sibutsetelo seChromosome neGene Disorders; [kucashunwe ngo-2018 Juni 22]; [cishe izikrini ezi-2]. Kutholakala kusuka: https://www.merckmanuals.com/home/children-s-health-issues/chromosome-and-gene-abnormalities/overview-of-chromosome-and-gene-disorders
13. Uhlobo Lokuthengwa Kwamakhasimende we-Merck [Internet]. IKenilworth (NJ): IMerck & Co, Inc .; c2018. ITrisomy 18 (Edwards Syndrome; iTrisomy E); [kucashunwe ngo-2018 Juni 22]; [cishe izikrini ezi-2]. Kutholakala kusuka: https://www.merckmanuals.com/home/children-s-health-issues/chromosome-and-gene-abnormalities/trisomy-18
14. I-National Heart, Lung, ne-Blood Institute [i-Intanethi]. I-Bethesda (MD): UMnyango Wezempilo kanye Nezinsizakalo Zabantu e-U.S. Ukuhlolwa Kwegazi; [kucashunwe ngo-2018 Juni 22]; [cishe izikrini ezi-3]. Kutholakala kusuka: https://www.nhlbi.nih.gov/health-topics/blood-tests
15. I-NIH National Human Genome Research Institute [i-Intanethi]. I-Bethesda (MD): UMnyango Wezempilo kanye Nezinsizakalo Zabantu e-U.S. Ukungajwayelekile kwe-Chromosome; I-2016 Jan 6 [icashunwe ngo-2018 Jun 22]; [cishe izikrini ezi-3]. Kutholakala kusuka: https://www.genome.gov/11508982
16. I-NIH U.S. National Library of Medicine: Isethenjwa Sasekhaya se-Genetics [Internet]. I-Bethesda (MD): UMnyango Wezempilo kanye Nezinsizakalo Zabantu e-U.S. Yiziphi izinhlobo zokuhlolwa kofuzo ?; I-2018 Jun 19 [icashunwe ngo-2018 Juni 22]; [cishe izikrini ezi-4]. Kutholakala kusuka: https://ghr.nlm.nih.gov/primer/testing/uses
17. I-University of Rochester Medical Center [i-Inthanethi]. URochester (NY): Isikhungo Sezokwelapha sase-University of Rochester; c2018. I-Health Encyclopedia: Ukuhlaziywa kwe-Chromosome; [kucashunwe ngo-2018 Juni 22]; [cishe izikrini ezi-2]. Kutholakala kusuka: https://www.urmc.rochester.edu/encyclopedia/content.aspx?contenttypeid=167&contentid=chromosome_analysis
18. I-University of Rochester Medical Center [i-Inthanethi]. URochester (NY): Isikhungo Sezokwelapha sase-University of Rochester; c2018. I-Health Encyclopedia: I-Turner Syndrome (i-Monosomy X) ezinganeni; [kucashunwe ngo-2018 Juni 22]; [cishe izikrini ezi-2]. Kutholakala kusuka: https://www.urmc.rochester.edu/encyclopedia/content.aspx?contenttypeid=90&contentid=p02421
19. I-UW Health [Inthanethi]. UMadison (WI): Izibhedlela zase-University of Wisconsin kanye neGunya Lemitholampilo; c2018. Imininingwane Yezempilo: I-Amniocentesis: Kwenziwa Kanjani; [kubuyekezwe i-2017 Jun 6; kukhonjiwe ngo-2018 Jun 22]; [cishe izikrini ezi-5]. Kutholakala kusuka: https://www.uwhealth.org/health/topic/medicaltest/amniocentesis/hw1810.html#hw1839
20. I-UW Health [Inthanethi]. UMadison (WI): Izibhedlela zase-University of Wisconsin kanye neGunya Lemitholampilo; c2018. Imininingwane Yezempilo: I-Chorionic Villus Sampling (CVS): Kwenziwa Kanjani; [kubuyekezwe u-2017 Meyi 17; kukhonjiwe ngo-2018 Jun 22]; [cishe izikrini ezi-5]. Kutholakala kusuka: https://www.uwhealth.org/health/topic/medicaltest/chorionic-villus-sampling/hw4104.html#hw4121
21. I-UW Health [Inthanethi]. UMadison (WI): Izibhedlela zase-University of Wisconsin kanye neGunya Lemitholampilo; c2018. Imininingwane Yezempilo: Ukuhlolwa Karyotype: Kwenziwa Kanjani; [kubuyekezwe i-2017 Oct 9; kukhonjiwe ngo-2018 Jun 22]; [cishe izikrini ezi-5]. Kutholakala kusuka: https://www.uwhealth.org/health/topic/medicaltest/karyotype-test/hw6392.html#hw6410
22. I-UW Health [Inthanethi]. UMadison (WI): Izibhedlela zase-University of Wisconsin kanye neGunya Lemitholampilo; c2018. Imininingwane Yezempilo: Ukuhlolwa kweKaryotype: Ukubuka konke kokuhlolwa; [kubuyekezwe i-2017 Oct 9; kukhonjiwe 2018 Jun 22]; [cishe izikrini ezi-2]. Kutholakala kusuka: https://www.uwhealth.org/health/topic/medicaltest/karyotype-test/hw6392.html
23. I-UW Health [Inthanethi]. UMadison (WI): Izibhedlela zase-University of Wisconsin kanye neGunya Lemitholampilo; c2018. Imininingwane Yezempilo: Ukuhlolwa Karyotype: Kungani Kwenziwa; [kubuyekezwe i-2017 Oct 9; kukhonjiwe 2018 Jun 22]; [cishe izikrini ezi-3]. Kutholakala kusuka: https://www.uwhealth.org/health/topic/medicaltest/karyotype-test/hw6392.html#hw6402

Imininingwane ekulesi siza akufanele isetshenziswe esikhundleni sezokunakekelwa kwezokwelapha noma iseluleko. Xhumana nomhlinzeki wezempilo uma unemibuzo ngempilo yakho.