Mlembi: Marcus Baldwin
Tsiku La Chilengedwe: 17 Kuni 2021
Sinthani Tsiku: 1 Kulayi 2024
Anonim
Mayeso Achibadwa a Karyotype - Mankhwala
Mayeso Achibadwa a Karyotype - Mankhwala

Zamkati

Kuyesa kwa karyotype ndi chiyani?

Kuyesa kwa karyotype kumayang'ana kukula, mawonekedwe, ndi kuchuluka kwama chromosomes anu. Ma chromosomes ndi magawo am'maselo anu omwe ali ndi majini anu. Chibadwa ndi mbali za DNA zomwe zapatsidwa kuchokera kwa amayi ndi abambo anu. Amanyamula zidziwitso zomwe zimatsimikizira mikhalidwe yanu yapadera, monga kutalika ndi mtundu wamaso.

Anthu nthawi zambiri amakhala ndi ma chromosomes 46, ogawika m'magulu 23 awiriawiri, m'selo iliyonse. Mmodzi mwa ma chromosomes awiri amachokera kwa amayi anu, ndipo awiriwo amachokera kwa abambo anu.

Ngati muli ndi ma chromosomes ochulukirapo kuposa 46, kapena ngati pali china chachilendo pakukula kapena mawonekedwe a ma chromosomes anu, zitha kutanthauza kuti muli ndi matenda amtundu. Mayeso a karyotype nthawi zambiri amagwiritsidwa ntchito kuthandizira kupeza zolakwika zamtundu wamwana wakhanda.

Mayina ena: kuyesa majini, kuyesa kwa chromosome, maphunziro a chromosome, kuwunika kwa cytogenetic

Amagwiritsidwa ntchito yanji?

Mayeso a karyotype atha kugwiritsidwa ntchito:

  • Fufuzani mwana wosabadwa ngati ali ndi vuto lachibadwa
  • Dziwani za matenda amtundu wa mwana kapena mwana wakhanda
  • Pezani ngati chilema cha chromosomal chikulepheretsa mayi kutenga pakati kapena chikuyambitsa kupita padera
  • Fufuzani mwana wobadwa wakhanda (mwana yemwe anamwalira mochedwa ali ndi pakati kapena pobadwa) kuti muwone ngati vuto la chromosomal limayambitsa imfa
  • Onani ngati muli ndi vuto lachibadwa lomwe lingapatsidwe kwa ana anu
  • Dziwani kapena pangani dongosolo lamankhwala amitundu ina ya khansa ndi mavuto amwazi

Chifukwa chiyani ndikufunika mayeso a karyotype?

Ngati muli ndi pakati, mungafune kuyesa mayeso a karyotype kwa mwana wanu wosabadwa ngati muli ndi zifukwa zina zoopsa. Izi zikuphatikiza:


  • Zaka zanu. Chiwopsezo chonse chokhala ndi vuto lobadwa nalo ndichaching'ono, koma chiopsezo ndichachikulu kwa azimayi omwe ali ndi ana azaka 35 kapena kupitilira apo.
  • Mbiri ya banja. Zowopsa zanu zimawonjezeka ngati inu, mnzanu, komanso / kapena mwana wanu wina ali ndi vuto lachibadwa.

Mwana wanu kapena mwana wanu wamng'ono angafunike kuyesedwa ngati ali ndi zizindikilo zakuti ali ndi vuto lachibadwa. Pali mitundu yambiri yamatenda amtundu, iliyonse imakhala ndi zizindikilo zosiyanasiyana. Inu ndi wothandizira zaumoyo wanu mutha kukambirana zakuti ngati mungayesedwe kuyezetsa.

Ngati ndinu mkazi, mungafunike kuyesa karyotype ngati mwakhala ndi vuto lokhala ndi pakati kapena mwakhala ndi padera kangapo. Ngakhale kutaya padera kamodzi sikwachilendo, ngati mwakhalapo kangapo, mwina chifukwa cha vuto la chromosomal.

Mwinanso mungafunike kuyesa karyotype ngati muli ndi zizindikiro za matenda a khansa ya m'magazi, lymphoma, kapena myeloma, kapena mtundu wina wa kuchepa kwa magazi. Matendawa amatha kuyambitsa kusintha kwa chromosomal. Kupeza zosinthazi kungathandize omwe akukuthandizani kuzindikira, kuwunika, ndi / kapena kuchiza matendawa.


Kodi chimachitika ndi chiani pa mayeso a karyotype?

Pakuyesa kwa karyotype, omwe amakupatsani adzafunika kutenga mayeso am'maselo anu. Njira zodziwika bwino zopezera zitsanzo ndi izi:

  • Kuyezetsa magazi. Pakuyezaku, katswiri wazachipatala amatenga magazi kuchokera mumtsinje wamkono mwanu, pogwiritsa ntchito singano yaying'ono. Singanoyo italowetsedwa, magazi ang'onoang'ono amatengedwa mu chubu choyesera. Mutha kumva kuluma pang'ono singano ikamalowa kapena kutuluka. Izi nthawi zambiri zimatenga mphindi zosakwana zisanu.
  • Kuyesedwa kwa amayi asanabadwe ndi amniocentesis kapena chorionic villus sampling (CVS). Chorionic villi ndi timatumba ting'onoting'ono tomwe timapezeka mu placenta.

Kwa amniocentesis:

  • Ugona chagada pa tebulo la mayeso.
  • Wopereka wanu amasuntha chida cha ultrasound pamimba panu. Ultrasound imagwiritsa ntchito mafunde omveka kuti aone momwe chiberekero chanu, chiberekero, ndi khanda lanu zili.
  • Wothandizira anu amalowetsa singano yopyapyala m'mimba mwanu ndikutulutsa pang'ono amniotic fluid.

Amniocentesis nthawi zambiri imachitika pakati pa sabata la 15 mpaka 20 la mimba.


Kwa CVS:

  • Ugona chagada pa tebulo la mayeso.
  • Wopereka wanu amayendetsa chida cha ultrasound pamimba panu kuti muwone momwe chiberekero, chiberekero, ndi khanda lanu zilili.
  • Wothandizira anu amatenga maselo kuchokera ku latuluka mwa njira imodzi: mwina kudzera pachibelekero chanu chokhala ndi chubu chochepa kwambiri chotchedwa catheter, kapena ndi singano yopyapyala pamimba panu.

CVS nthawi zambiri imachitika pakati pa sabata la 10 mpaka 13 la mimba.

Kukopa kwa Bone Marrow ndi Biopsy. Ngati mukuyesedwa kapena kuchiritsidwa mtundu wina wa khansa kapena matenda am'magazi, omwe akukuthandizani angafunike kutenga zina mwamafupa. Pachiyeso ichi:

  • Mugona chammbali kapena m'mimba, kutengera fupa liti lomwe lidzagwiritsidwe ntchito poyesa. Mayeso ambiri am'mafupa amachotsedwa m'chiuno.
  • Tsambali lidzatsukidwa ndi mankhwala opha tizilombo.
  • Mupeza jakisoni wa yankho lodzidzimutsa.
  • Dera likangokhala dzanzi, wothandizira zaumoyo atenga chitsanzocho.
  • Pofuna kulakalaka mafuta m'mafupa, omwe nthawi zambiri amachitika koyamba, wothandizira zaumoyo amalowetsa singano kupyola fupa ndikutulutsa madzi m'mafupa ndi m'maselo. Mungamve kupweteka kwakuthwa koma kwakanthawi kochepa pamene singano iikidwa.
  • Pazitsulo zam'mafupa, wothandizira zaumoyo adzagwiritsa ntchito chida chapadera chomwe chimapindika mu fupa kuti atengeko gawo la mafupa. Mutha kumva kukakamizidwa pamalopo pomwe zitsanzo zikutengedwa.

Kodi ndiyenera kuchita chilichonse kukonzekera mayeso?

Simukusowa kukonzekera kulikonse kwa kuyesa kwa karyotype.

Kodi pali zoopsa zilizonse pamayeso?

Pali chiopsezo chochepa kwambiri choyesedwa magazi. Mutha kukhala ndi ululu pang'ono kapena kuvulala pamalo pomwe singano idayikidwapo, koma zizindikiro zambiri zimatha msanga.

Mayeso a Amniocentesis ndi CVS nthawi zambiri amakhala otetezeka, koma amakhala ndi chiopsezo chochepa chopita padera. Lankhulani ndi wothandizira zaumoyo wanu za kuopsa ndi phindu la mayesowa.

Pambuyo poyeserera mafuta m'mafupa ndi kuyesa biopsy, mutha kumva kuti ndinu owuma kapena owawa pamalo obayira. Izi zimatha masiku angapo. Wothandizira zaumoyo wanu akhoza kukulangizani kapena kukupatsani mankhwala ochepetsa ululu kuti akuthandizeni.

Kodi zotsatirazi zikutanthauza chiyani?

Ngati zotsatira zanu zinali zachilendo (osati zachilendo,) zikutanthauza kuti inu kapena mwana wanu muli ndi ma chromosomes opitilira 46, kapena pali china chachilendo pakukula, mawonekedwe, kapangidwe ka chromosomes yanu imodzi kapena zingapo. Ma chromosomes osazolowereka amatha kuyambitsa matenda osiyanasiyana. Zizindikiro ndi kuuma kwake zimadalira ma chromosomes omwe akhudzidwa.

Zovuta zina zomwe zimayambitsa zolakwika za chromosomal ndi monga:

  • Down matenda, vuto lomwe limayambitsa kulumala m'malingaliro komanso kuchedwa kwachitukuko
  • Matenda a Edwards, matenda omwe amabweretsa mavuto akulu mumtima, m'mapapo, ndi impso
  • Matenda a Turner, kusokonezeka kwa atsikana komwe kumakhudza kukula kwamakhalidwe achikazi

Ngati munayesedwa chifukwa muli ndi mtundu wina wa khansa kapena matenda amwazi, zotsatira zanu zitha kuwonetsa ngati vuto lanu limayambitsidwa ndi vuto la chromosomal. Zotsatirazi zitha kuthandiza othandizira anu azaumoyo kuti akupangireni njira yabwino yothandizira.

Dziwani zambiri zamayeso a labotale, magawo owerengera, ndi zotsatira zakumvetsetsa.

Kodi pali china chilichonse chomwe ndiyenera kudziwa pamayeso a karyotype?

Ngati mukuganiza zokayezetsa kapena mwalandira zotsatira zoyipa pamayeso anu a karyotype, zingakuthandizeni kuyankhula ndi mlangizi wamtundu.Phungu wamtundu ndi katswiri wophunzitsidwa mwapadera pama genetics ndi kuyesa kwa majini. Atha kukufotokozerani tanthauzo la zotsatira zanu, kukuwongolerani ntchito zothandizira, komanso kukuthandizani kupanga zisankho zanzeru zokhudzana ndi thanzi lanu kapena thanzi la mwana wanu.

Zolemba

  1. ACOG: Madokotala a Akazi a Zaumoyo [Internet]. Washington DC: American College of Obstetricians and Gynecologists; c2020. Kukhala ndi Mwana Atakalamba 35: Momwe Kukalamba Kumakhudzira Uchembere ndi Mimba; [anatchula 2020 May 12]; [pafupifupi zowonetsera 3]. Ipezeka kuchokera:
  2. American Cancer Society [Intaneti]. Atlanta: Bungwe la American Cancer Society Inc .; c2018. Kodi Matenda a Myeloid Leukemia Amadziwika Bwanji ?; [yasinthidwa 2016 Feb 22; yatchulidwa 2018 Jun 22]; [pafupifupi zowonetsera 4]. Ipezeka kuchokera: https://www.cancer.org/cancer/chronic-myeloid-leukemia/detection-diagnosis-staging/how-diagnosed.html
  3. American Cancer Society [Intaneti]. Atlanta: Bungwe la American Cancer Society Inc .; c2018. Kuyesa Kupeza Myeloma Yambiri; [yasinthidwa 2018 Feb 28; yatchulidwa 2018 Jun 22]; [pafupifupi zowonetsera 3]. Ipezeka kuchokera: https://www.cancer.org/cancer/multiple-myeloma/detection-diagnosis-staging/testing.html
  4. American Pregnancy Association [Intaneti]. Irving (TX): Mgwirizano wa Amayi Achimereka; c2018. Amniocentesis; [yasinthidwa 2016 Sep 2; yatchulidwa 2018 Jun 22]; [pafupifupi zowonetsera 2]. Ipezeka kuchokera: http://americanpregnancy.org/prenatal-testing/amniocentesis
  5. American Pregnancy Association [Intaneti]. Irving (TX): Mgwirizano wa Amayi Achimereka; c2018. Zitsanzo za Chorionic Villus: CVS; [yasinthidwa 2016 Sep 2; yatchulidwa 2018 Jun 22]; [pafupifupi zowonetsera 2]. Ipezeka kuchokera: http://americanpregnancy.org/prenatal-testing/chorionic-villus-sampling
  6. Malo Othandizira Kuteteza ndi Kupewa Matenda [Internet]. Atlanta: Dipatimenti ya Zaumoyo ndi Zaumunthu ku U.S. Uphungu Wachibadwa; [yasinthidwa 2016 Mar 3; yatchulidwa 2018 Jun 22]; [pafupifupi zowonetsera 2]. Ipezeka kuchokera: https://www.cdc.gov/genomics/gtesting/genetic_counseling.htm
  7. Kuyesa kwa Labu Paintaneti [Intaneti]. Washington DC: American Association for Clinical Chemistry; c2001–2018. Kufufuza kwa Chromosome (Karyotyping); [yasinthidwa 2018 Jun 22; yatchulidwa 2018 Jun 22]; [pafupifupi zowonetsera 2]. Ipezeka kuchokera: https://labtestsonline.org/tests/chromosome-analysis-karyotyping
  8. Kuyesa kwa Labu Paintaneti [Intaneti]. Washington DC: American Association for Clinical Chemistry; c2001–2018. Down Syndrome; [yasinthidwa 2018 Feb 28; yatchulidwa 2018 Jun 22]; [pafupifupi zowonetsera 2]. Ipezeka kuchokera: https://labtestsonline.org/conditions/down-syndrome
  9. Chipatala cha Mayo [Intaneti]. Mayo Foundation for Medical Education and Research; c1998–2018. Kufufuza kwa m'mafupa ndi chikhumbo: Mwachidule; 2018 Jan 12 [yatchulidwa 2018 Jun 22]; [pafupifupi zowonetsera 4]. Ipezeka kuchokera: https://www.mayoclinic.org/tests-procedures/bone-marrow-biopsy/about/pac-20393117
  10. Chipatala cha Mayo [Intaneti]. Mayo Foundation for Medical Education and Research; c1998–2018. Matenda myelogenous khansa: Matendawa ndi chithandizo; 2016 Meyi 26 [adatchula 2018 Jun 22]; [pafupifupi zowonetsera 5]. Ipezeka kuchokera: https://www.mayoclinic.org/diseases-conditions/chronic-myelogenous-leukemia/symptoms-causes/syc-20352417
  11. Merck Manual Consumer Version [Intaneti]. Kenilworth (NJ): Merck & Co., Inc .; c2018. Kufufuza kwa Bone Marrow; [adatchula 2018 Jun 22]; [pafupifupi zowonetsera 2]. Ipezeka kuchokera: http://www.merckmanuals.com/home/blood-disorders/symptoms-and-diagnosis-of-blood-disorders/bone-marrow-examination
  12. Merck Manual Consumer Version [Intaneti]. Kenilworth (NJ): Merck & Co., Inc .; c2018. Chidule cha Chromosome ndi Matenda a Gene; [adatchula 2018 Jun 22]; [pafupifupi zowonetsera 2]. Ipezeka kuchokera:
  13. Merck Manual Consumer Version [Intaneti]. Kenilworth (NJ): Merck & Co., Inc .; c2018. Trisomy 18 (Edwards Syndrome; Trisomy E); [adatchula 2018 Jun 22]; [pafupifupi zowonetsera 2]. Ipezeka kuchokera: https://www.merckmanuals.com/home/children-s-health-issues/chromosome-and-gene-abnormalities/trisomy-18
  14. National Heart, Lung, ndi Blood Institute [Internet]. Bethesda (MD): Dipatimenti ya Zaumoyo ndi Zantchito ku U.S. Kuyesa Magazi; [adatchula 2018 Jun 22]; [pafupifupi zowonetsera 3]. Ipezeka kuchokera: https://www.nhlbi.nih.gov/health-topics/blood-tests
  15. NIH National Human Genome Research Institute [Intaneti]. Bethesda (MD): Dipatimenti ya Zaumoyo ndi Zantchito ku U.S. Chromosome Zovuta; 2016 Jan 6 [adatchula 2018 Jun 22]; [pafupifupi zowonetsera 3]. Ipezeka kuchokera: https://www.genome.gov/11508982
  16. NIH U.S. National Library of Medicine: Genetics Home Reference [Internet]. Bethesda (MD): Dipatimenti ya Zaumoyo ndi Zantchito ku U.S. Kodi mitundu yoyesera mitundu ndi iti ?; 2018 Jun 19 [yatchulidwa 2018 Jun 22]; [pafupifupi zowonetsera 4]. Ipezeka kuchokera: https://ghr.nlm.nih.gov/primer/testing/uses
  17. University of Rochester Medical Center [Intaneti]. Rochester (NY): Yunivesite ya Rochester Medical Center; c2018. Health Encyclopedia: Kusanthula kwa Chromosome; [adatchula 2018 Jun 22]; [pafupifupi zowonetsera 2]. Ipezeka kuchokera: https://www.urmc.rochester.edu/encyclopedia/content.aspx?contenttypeid=167&contentid=chromosome_analysis
  18. University of Rochester Medical Center [Intaneti]. Rochester (NY): Yunivesite ya Rochester Medical Center; c2018. Health Encyclopedia: Turner Syndrome (Monosomy X) mwa Ana; [adatchula 2018 Jun 22]; [pafupifupi zowonetsera 2]. Ipezeka kuchokera: https://www.urmc.rochester.edu/encyclopedia/content.aspx?contenttypeid=90&contentid=p02421
  19. UW Health [Intaneti]. Madison (WI): Zipatala za University of Wisconsin ndi Clinics Authority; c2018. Zambiri Zaumoyo: Amniocentesis: Momwe Zimapangidwira; [yasinthidwa 2017 Jun 6; yatchulidwa 2018 Jun 22]; [pafupifupi zowonetsera 5]. Ipezeka kuchokera: https://www.uwhealth.org/health/topic/medicaltest/amniocentesis/hw1810.html#hw1839
  20. UW Health [Intaneti]. Madison (WI): Zipatala za University of Wisconsin ndi Clinics Authority; c2018. Zambiri Zaumoyo: Chorionic Villus Sampling (CVS): Momwe Zimachitikira; [yasinthidwa 2017 Meyi 17; yatchulidwa 2018 Jun 22]; [pafupifupi zowonetsera 5]. Ipezeka kuchokera: https://www.uwhealth.org/health/topic/medicaltest/chorionic-villus-sampling/hw4104.html#hw4121
  21. UW Health [Intaneti]. Madison (WI): Zipatala za University of Wisconsin ndi Clinics Authority; c2018. Zambiri Zaumoyo: Mayeso a Karyotype: Momwe Amapangidwira; [yasinthidwa 2017 Oct 9; yatchulidwa 2018 Jun 22]; [pafupifupi zowonetsera 5]. Ipezeka kuchokera: https://www.uwhealth.org/health/topic/medicaltest/karyotype-test/hw6392.html#hw6410
  22. UW Health [Intaneti]. Madison (WI): Zipatala za University of Wisconsin ndi Clinics Authority; c2018. Zambiri Zaumoyo: Kuyesa kwa Karyotype: Kufotokozera Mwachidule; [yasinthidwa 2017 Oct 9; yatchulidwa 2018 Jun 22]; [pafupifupi zowonetsera 2]. Ipezeka kuchokera: https://www.uwhealth.org/health/topic/medicaltest/karyotype-test/hw6392.html
  23. UW Health [Intaneti]. Madison (WI): Zipatala za University of Wisconsin ndi Clinics Authority; c2018. Zambiri Zaumoyo: Mayeso a Karyotype: Chifukwa Chake Amachitidwa; [yasinthidwa 2017 Oct 9; yatchulidwa 2018 Jun 22]; [pafupifupi zowonetsera 3]. Ipezeka kuchokera: https://www.uwhealth.org/health/topic/medicaltest/karyotype-test/hw6392.html#hw6402

Zomwe zili patsamba lino siziyenera kugwiritsidwa ntchito m'malo mwa chithandizo chamankhwala kapena upangiri. Lumikizanani ndi othandizira azaumoyo ngati muli ndi mafunso okhudzana ndi thanzi lanu.

Mabuku Osangalatsa

Nyamakazi

Nyamakazi

Matenda a nyamakazi ndi kutupa kapena kuchepa kwa gawo limodzi kapena angapo. Olowa ndi malo omwe mafupa awiri amakumana. Pali mitundu yopo a 100 ya nyamakazi.Nyamakazi imakhudza kuwonongeka kwa mafup...
Matenda osavomerezeka a antidiuretic hormone secretion

Matenda osavomerezeka a antidiuretic hormone secretion

Matenda o avomerezeka a antidiyuretic ecretion ( IADH) ndimomwe thupi limapangira mahomoni olet a antidiuretic (ADH). Hormone iyi imathandizira imp o kuyang'anira kuchuluka kwa madzi omwe thupi la...