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Ranar Halitta: 21 Yuli 2021
Sabuntawa: 22 Satumba 2024
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Menene gwajin cututtukan Down?

Down syndrome cuta ce ta rashin lafiya wanda ke haifar da nakasawar hankali, fasali na zahiri, da matsalolin lafiya daban-daban. Wadannan na iya haɗawa da lahani na zuciya, rashin ji, da cutar thyroid. Down syndrome wani nau'in cuta ne na chromosome.

Chromosomes sune sassan ƙwayoyinku waɗanda suka ƙunshi ƙwayoyinku. Kwayar halitta sassan DNA ne da aka ratsa daga uwa da uba. Suna ɗauke da bayanan da ke tantance halaye na musamman, kamar su tsayi da launin ido.

  • Kullum mutane suna da chromosomes 46, sun kasu kashi 23, a kowace kwaya.
  • Ofaya daga cikin kowane chromosomes sun fito ne daga mahaifinka, ɗayan kuma daga mahaifinka ne.
  • A cikin ciwo na Down, akwai ƙarin kwafin chromosome 21.
  • Charin chromosome yana canza yadda jiki da kwakwalwa suke haɓaka.

Ciwon Down, wanda kuma ake kira trisomy 21, shine cuta mafi yawan chromosome a cikin Amurka.

A cikin wasu nau'ikan nau'ikan Down syndrome guda biyu, waɗanda ake kira mosaic trisomy 21 da transrisation trisomy 21, ƙarin chromosome ba ya bayyana a cikin kowace kwayar halitta. Mutanen da ke fama da wannan cuta galibi suna da ƙananan halaye da matsalolin kiwon lafiya waɗanda ke da alaƙa da nau'in cutar Down Down.


Gwajin gwajin ciwo na ƙasa yana nuna ko jaririn da ke cikinku zai iya kamuwa da ciwon na Down. Sauran nau'ikan gwaje-gwaje suna tabbatarwa ko kawar da cutar.

Menene gwaje-gwajen da aka yi amfani da su?

Ana amfani da gwaje-gwajen rashin ciwo na ƙasa don yin bincike ko gano rashin lafiya na Down syndrome. Gwajin gwajin rashin lafiya na ƙasa yana da ƙaranci ko rashin haɗari a gare ku ko jaririn ku, amma ba za su iya gaya muku tabbas ko jaririnku na da cutar rashin lafiya ba.

Gwajin gwaji yayin daukar ciki na iya tabbatarwa ko kawar da cutar, amma gwaje-gwajen na da karamin hadarin haifar da zubewar ciki.

Me yasa nake buƙatar gwajin rashin lafiya?

Yawancin masu ba da sabis na kiwon lafiya suna ba da shawarar binciken rashin lafiya na Down da / ko gwaje-gwajen bincike don mata masu juna biyu waɗanda shekarunsu 35 ne ko sama da haka. Shekarun mahaifiya sune asalin haɗarin haɗarin samun jariri mai cutar Down syndrome. Haɗarin yana ƙaruwa yayin da mace ta tsufa. Amma kuma kuna iya kasancewa cikin haɗari mafi girma idan kun riga kun sami jariri mai cutar Down syndrome da / ko kuma kuna da tarihin iyali na rashin lafiyar.

Bugu da ƙari, kuna so a gwada ku don taimaka muku shirya idan sakamakon ya nuna jaririnku na iya samun Ciwon Down. Sanin gaba zai iya ba ku lokaci don shirya don kiwon lafiya da sabis na tallafi don yaro da dangi.


Amma gwaji ba na kowa bane. Kafin ka yanke shawarar yin gwaji, ka yi tunanin yadda za ka ji da kuma abin da za ka iya yi bayan koyon sakamakon. Ya kamata ku tattauna tambayoyinku da damuwa tare da abokin tarayya da mai ba da lafiyar ku.

Idan ba a gwada ku ba a lokacin daukar ciki ko kuma son tabbatar da sakamakon wasu gwaje-gwaje, kuna so a gwada jaririn idan yana da alamun rashin lafiya na Down syndrome. Wadannan sun hada da:

  • Flattened fuska da hanci
  • Idon almon mai siffa wanda yayi sama
  • Kananan kunnuwa da baki
  • Whiteananan farin tabo a kan ido
  • Sautin tsoka mara kyau
  • Ci gaban jinkiri

Menene nau'ikan gwaje-gwajen rashin ciwo na Down?

Akwai nau'ikan nau'ikan nau'ikan nau'ikan nau'ikan cututtukan Down Down guda biyu: gwajin gwaji da na bincike.

Binciken rashin lafiya na ƙasa ya haɗa da waɗannan gwaje-gwajen da aka yi yayin ciki:

  • Nunawar watanni uku na farko ya hada da gwajin jini wanda ke duba matakan wasu sunadarai a cikin jinin uwa. Idan matakan ba al'ada bane, yana nufin akwai damar da tayi mafi girma na jaririn da ciwon Down syndrome. Binciken har ila yau ya haɗa da duban dan tayi, gwajin hoto wanda ke duban jaririn da ba a haifa ba don alamun rashin lafiya na Down syndrome. Gwajin an yi shi tsakanin mako na 10 da na 14 na ciki.
  • Nunawa na biyu. Waɗannan gwaje-gwajen jini ne waɗanda kuma suke neman wasu abubuwa a cikin jinin mahaifiya waɗanda na iya zama alamar Down syndrome. Gwajin allo sau uku yana neman abubuwa uku daban-daban. Ana yin sa tsakanin makon 16 da 18 na ciki. Gwajin allo sau huɗu yana neman abubuwa huɗu daban-daban kuma ana yin sa tsakanin mako na 15 da na 20 na ciki. Mai ba da sabis naka na iya yin oda ɗaya ko duka waɗannan gwaje-gwajen.

Idan bincikenka na rashin lafiya yana nuna dama mafi girma na rashin lafiyar Down syndrome, ƙila kana so ka ɗauki gwajin gwaji don tabbatarwa ko hana gano asali.


Gwajin gwajin rashin lafiya da aka yi yayin ciki sun hada da:

  • Amniocentesis, wanda ke daukar samfurin ruwan amniotic, ruwan da ke kewaye da jaririn da ke ciki. Yawanci ana yin sa tsakanin mako na 15 zuwa na 20 na ciki.
  • Samfurin Cillionic villus (CVS), wanda ke daukar samfurin daga mahaifa, gabar da ke ciyar da jaririn da ke cikin mahaifar ku. Yawanci ana yin sa tsakanin mako na 10 zuwa 13 na ciki.
  • Samfurin jinin cibiya a jiki (PUBS), wanda ke daukar samfurin jini daga igiyar cibiya. PUBS suna ba da cikakkiyar ganewar asali na rashin ciwo na Down a lokacin daukar ciki, amma ba za a iya yin hakan ba har zuwa ƙarshen ciki, tsakanin makon 18 da 22.

Ciwon rashin lafiya na asali bayan haihuwa:

Yaronku na iya yin gwajin jini wanda ke kallon chromosomes ɗinsa. Wannan gwajin zai gaya muku tabbas ko jaririnku na da cutar rashin lafiya.

Menene ya faru yayin gwajin rashin lafiya na Down?

Yayin gwajin jini, wani kwararren mai kula da lafiya zai dauki samfurin jini daga jijiyar hannunka, ta amfani da karamin allura. Bayan an saka allurar, za a tara karamin jini a cikin bututun gwaji ko kwalba. Kuna iya jin ɗan kaɗan lokacin da allurar ta shiga ko fita. Wannan yawanci yakan dauki kasa da minti biyar.

Don farkon watanni uku na duban dan tayi, mai ba da sabis na kiwon lafiya zai motsa na'urar duban dan tayi a kan ciki. Na'urar tana amfani da igiyar ruwa don duban jaririn da ke ciki. Mai ba ku sabis zai bincika kauri a bayan wuyan jaririnku, wanda alama ce ta Down syndrome.

Don amniocentesis:

  • Za ku kwanta a bayanku a kan teburin jarabawa.
  • Mai ba da sabis ɗinku zai matsar da na'urar duban dan tayi ta cikin ku. Duban dan tayi yana amfani da raƙuman ruwa don bincika matsayin mahaifa, mahaifa, da jariri.
  • Mai ba da sabis ɗinku zai shigar da ƙaramin allura a cikin cikinku kuma zai janye ƙaramin ruwan amniotic.

Don samfurin villus chorionic (CVS):

  • Za ku kwanta a bayanku a kan teburin jarabawa.
  • Mai ba da sabis ɗinku zai matsar da na’urar duban dan tayi a kan cikin ku don duba matsayin mahaifar ku, mahaifar ku, da kuma jaririn ku.
  • Mai ba da sabis ɗinku zai tara ƙwayoyin halitta daga mahaifa ta ɗayan hanyoyi biyu: ko dai ta cikin mahaifar mahaifinka ta wani bakin ciki da ake kira catheter, ko kuma da wata allura ta bakin ciki.

Don samfurin jini na mahaifa (PUBS):

  • Za ku kwanta a bayanku a kan teburin jarabawa.
  • Mai ba da sabis ɗinku zai matsar da na’urar duban dan tayi a kan cikinku don bincika matsayin mahaifarku, mahaifa, jariri, da igiyar cibiya.
  • Mai ba da sabis ɗinku zai shigar da ƙaramin allura a cikin cibiya ya cire ƙaramin samfurin jini.

Shin zan buƙaci yin komai don shirya wa gwaje-gwajen?

Babu wasu shirye-shirye na musamman da ake buƙata don gwajin rashin lafiyar Down syndrome. Amma ya kamata ka yi magana da mai baka kiwon lafiya game da hadari da fa'idar gwaji.

Shin akwai haɗari ga gwaje-gwajen?

Akwai haɗari kaɗan don yin gwajin jini ko duban dan tayi. Bayan gwajin jini, ƙila ku sami ɗan ciwo ko ƙujewa a inda aka sanya allurar, amma yawancin alamun suna tafi da sauri.

Amniocentesis, CVS, da PUBS gwaje-gwaje yawanci hanyoyin aminci ne, amma suna da riskan haɗarin haifar da ɓarin ciki.

Menene sakamakon yake nufi?

Sakamakon binciken rashin lafiya na ƙasa zai iya nuna kawai idan kuna da haɗarin haɗarin haihuwar jariri mai cutar Down syndrome, amma ba za su iya gaya muku tabbas idan jaririnku na da cutar Down Down Kuna iya samun sakamakon da ba al'ada ba, amma har yanzu yana ba da lafiya jariri ba tare da lahani ko cuta na chromosomal ba.

Idan sakamakon bincikenku na Down syndrome bai saba ba, kuna iya zaɓar yin gwaje-gwaje ɗaya ko fiye da na rashin lafiya.

Zai iya taimakawa wajen yin magana da mai ba da shawara kan kwayar halitta kafin gwaji da / ko bayan samun sakamakon ku. Mai ba da shawara kan kwayar halitta kwararren kwararren masani ne a fannin ilimin kwayoyin halitta da gwajin kwayoyin halitta. Shi ko ita na iya taimaka muku fahimtar abin da sakamakon ku ke nufi.

Learnara koyo game da gwaje-gwajen gwaje-gwaje, jeri na tunani, da fahimtar sakamako.

Shin akwai wani abin da nake bukatar sani game da gwajin rashin lafiyar Down?

Kiwon yaro mai cutar rashin lafiya na iya zama ƙalubale, amma kuma mai alfano. Samun taimako da magani daga kwararru tun da wuri zai iya taimaka wa ɗanka ya kai ga iyawarsa. Yaran da yawa da ke fama da cutar rashin lafiya suna girma don rayuwa mai kyau da farin ciki.

Yi magana da mai ba ka kiwon lafiya da mai ba da shawara kan kwayar halitta game da kulawa ta musamman, kayan aiki, da ƙungiyoyin tallafi na mutanen da ke fama da cutar rashin lafiya da danginsu.

Bayani

  1. ACOG: Likitocin Kiwon Lafiya na Mata [Intanet]. Washington D.C.: Kwalejin likitan mata ta Amurka; c2017. Gwajin gwajin cututtukan haihuwa; 2016 Sep [wanda aka ambata 2018 Jul 21]; [game da fuska 3]. Akwai daga: https://www.acog.org/Patients/FAQs/Prenatal-Genetic-Diagnostic-Tests
  2. Preungiyar Ciki ta Amurka [Intanet]. Irving (TX): Preungiyar Ciki ta Amurka; c2018. Amniocentesis; [sabunta 2016 Sep 2; wanda aka ambata 2018 Jul 21]; [game da allo 2]. Akwai daga: http://americanpregnancy.org/prenatal-testing/amniocentesis
  3. Preungiyar Ciki ta Amurka [Intanet]. Irving (TX): Preungiyar Ciki ta Amurka; c2018. Samfurin Chorionic Villus: CVS; [sabunta 2016 Sep 2; wanda aka ambata 2018 Jul 21]; [game da allo 2]. Akwai daga: http://americanpregnancy.org/prenatal-testing/chorionic-villus-sampling
  4. Preungiyar Ciki ta Amurka [Intanet]. Irving (TX): Preungiyar Ciki ta Amurka; c2018. Cordocentesis: Samfurin Jinin Cikin Percutaneous (PUBS); [sabunta 2016 Sep 2; wanda aka ambata 2018 Jul 21]; [game da allo 2]. Akwai daga: http://americanpregnancy.org/prenatal-testing/cordocentesis
  5. Preungiyar Ciki ta Amurka [Intanet]. Irving (TX): Preungiyar Ciki ta Amurka; c2018. Ciwon rashin ƙasa: Trisomy 21; [sabunta 2015 Jul; wanda aka ambata 2018 Jul 21]; [game da allo 2]. Akwai daga: http://americanpregnancy.org/birth-defects/down-syndrome
  6. Preungiyar Ciki ta Amurka [Intanet]. Irving (TX): Preungiyar Ciki ta Amurka; c2018. Duban dan tayi; [sabunta 2017 Nuwamba 3; wanda aka ambata 2018 Jul 21]; [game da allo 2]. Akwai daga: http://americanpregnancy.org/prenatal-testing/ultrasound
  7. Cibiyoyin Kula da Rigakafin Cututtuka [Intanet]. Atlanta: Ma'aikatar Kiwon Lafiya ta Amurka da Ayyukan Dan Adam; Bayanai game da Down Syndrome; [sabunta 2018 Feb 27; wanda aka ambata 2018 Jul 21]; [game da allo 2]. Akwai daga: https://www.cdc.gov/ncbddd/birthdefects/DownSyndrome.html
  8. Cibiyoyin Kula da Rigakafin Cututtuka [Intanet]. Atlanta: Ma'aikatar Kiwon Lafiya ta Amurka da Ayyukan Dan Adam; Bayar da Shawarwari kan Halittu [sabunta 2016 Mar 3; wanda aka ambata 2018 Jul 21]; [game da allo 2]. Akwai daga: https://www.cdc.gov/genomics/gtesting/genetic_counseling.htm
  9. Gwaje-gwajen Lab a kan layi [Intanet]. Washington DC: Associationungiyar (asar Amirka don Nazarin Kimiyyar Clinical; c2001–2018. Nazarin Chromosome (Karyotyping); [sabunta 2018 Jan 11; wanda aka ambata 2018 Jul 21]; [game da allo 2]. Akwai daga: https://labtestsonline.org/tests/chromosome-analysis-karyotyping
  10. Gwaje-gwajen Lab a kan layi [Intanet]. Washington DC: Associationungiyar (asar Amirka don Nazarin Kimiyyar Clinical; c2001–2018. Ciwon Down; [sabunta 2018 Jan 19; wanda aka ambata 2018 Jul 21]; [game da allo 2]. Akwai daga: https://labtestsonline.org/conditions/down-syndrome
  11. Maris na Dimes [Intanet]. Filayen Filaye (NY): Maris na Dimes; c2018. Ciwon Down; [wanda aka ambata 2018 Jul 21]; [game da fuska 3]. Akwai daga: https://www.marchofdimes.org/complications/down-syndrome.aspx
  12. Shafin Kasuwancin Merck Manual [Internet]. Kenilworth (NJ): Kamfanin Merck & Co. Inc.; c2018. Ciwon Down (Trisomy 21); [wanda aka ambata 2018 Jul 21]; [game da fuska 3]. Akwai daga: https://www.merckmanuals.com/home/children-s-health-issues/chromosome-and-gene-abnormalities/down-syndrome-trisomy-21
  13. NIH Eunice Kennedy Shriver Cibiyar Kula da Kiwon Lafiyar Yara da Ci Gaban Mutum (NICHD) [Intanet]. Rockville (MD): Ma'aikatar Kiwon Lafiya ta Amurka da Ayyukan Dan Adam; Yaya likitocin kiwon lafiya suke bincikar cutar rashin lafiya; [wanda aka ambata 2018 Jul 21]; [game da fuska 5]. Akwai daga: https://www.nichd.nih.gov/health/topics/down/conditioninfo/diagnosis
  14. NIH Eunice Kennedy Shriver Cibiyar Kula da Kiwon Lafiyar Yara da Ci Gaban Mutum (NICHD) [Intanet]. Rockville (MD): Ma'aikatar Kiwon Lafiya ta Amurka da Ayyukan Dan Adam; Menene alamun yau da kullun na rashin ciwo na Down ?; [wanda aka ambata 2018 Jul 21]; [game da fuska 5]. Akwai daga: https://www.nichd.nih.gov/health/topics/down/conditioninfo/symptoms
  15. NIH Cibiyar Nazarin Halittar Mutum ta Duniya [Intanet]. Bethesda (MD): Ma'aikatar Kiwon Lafiya ta Amurka da Ayyukan Dan Adam; Matsalolin Chromosome; 2016 Jan 6 [wanda aka ambata 2018 Jul 21]; [game da fuska 3]. Akwai daga: https://www.genome.gov/11508982
  16. NIH US National Library of Medicine: Nasihu na Gidajen Gida [Intanet]. Bethesda (MD): Ma'aikatar Kiwon Lafiya ta Amurka da Ayyukan Dan Adam; Ciwon Down; 2018 Jul 17 [wanda aka ambata 2018 Jul 21]; [game da fuska 3]. Akwai daga: https://ghr.nlm.nih.gov/condition/down-syndrome
  17. Jami'ar Rochester Medical Center [Intanet].Rochester (NY): Jami'ar Rochester Medical Center; c2018. Lafiya Encyclopedia: Nazarin Chromosome; [wanda aka ambata 2018 Jul 21]; [game da allo 2]. Akwai daga: https://www.urmc.rochester.edu/encyclopedia/content.aspx?contenttypeid=167&contentid=chromosome_analysis
  18. Jami'ar Rochester Medical Center [Intanet]. Rochester (NY): Jami'ar Rochester Medical Center; c2018. Encyclopedia na Lafiya: Rashin Lafiya (Trisomy 21) a cikin Yara; [wanda aka ambata 2018 Jul 21]; [game da allo 2]. Akwai daga: https://www.urmc.rochester.edu/encyclopedia/content.aspx?contenttypeid=90&contentid=p02356
  19. Kiwon Lafiya UW [Intanet]. Madison (WI): Jami'ar Wisconsin Asibitoci da Hukumomin Kula da Lafiya; c2018. Bayanin Lafiya: Amniocentesis: Yadda Ake Yi; [sabunta 2017 Jun 6; wanda aka ambata 2018 Jul 21]; [game da fuska 6]. Akwai daga: https://www.uwhealth.org/health/topic/medicaltest/amniocentesis/hw1810.html#hw1839
  20. Kiwon Lafiya UW [Intanet]. Madison (WI): Jami'ar Wisconsin Asibitoci da Hukumomin Kula da Lafiya; c2018. Bayanin Kiwan Lafiya: Samfurin Chorionic Villus (CVS): Yadda Ake Yi; [sabunta 2017 Mayu 17; wanda aka ambata 2018 Jul 21]; [game da fuska 6]. Akwai daga: https://www.uwhealth.org/health/topic/medicaltest/chorionic-villus-sampling/hw4104.html#hw4121
  21. Kiwon Lafiya UW [Intanet]. Madison (WI): Jami'ar Wisconsin Asibitoci da Hukumomin Kula da Lafiya; c2018. Bayanin Kiwan lafiya: Ciwon Cutar ƙasa: Gwaji da Gwaje-gwaje; [sabunta 2017 Mayu 4; wanda aka ambata 2018 Jul 21]; [game da fuska 8]. Akwai daga: https://www.uwhealth.org/health/topic/major/down-syndrome/hw167776.html#hw167989
  22. Kiwon Lafiya UW [Intanet]. Madison (WI): Jami'ar Wisconsin Asibitoci da Hukumomin Kula da Lafiya; c2018. Bayanin Kiwan lafiya: Ciwon Rashin Lafiya: Topic Overview; [sabunta 2017 Mayu 4; wanda aka ambata 2018 Jul 21]; [game da allo 2]. Akwai daga: https://www.uwhealth.org/health/topic/major/down-syndrome/hw167776.html
  23. Kiwon Lafiya UW [Intanet]. Madison (WI): Jami'ar Wisconsin Asibitoci da Hukumomin Kula da Lafiya; c2018. Bayanin Kiwon Lafiya: Nunin Farko na Farko don lahani na Haihuwa; [sabunta 2017 Nuwamba 21; wanda aka ambata 2018 Jul 21]; [game da allo 2]. Akwai daga: https://www.uwhealth.org/health/topic/special/first-trimester-screening-test/abh1912.html

Ba za a yi amfani da bayanan da ke wannan rukunin yanar gizon a madadin madadin ƙwararrun likitocin ko shawara ba. Tuntuɓi mai ba da kiwon lafiya idan kuna da tambayoyi game da lafiyarku.

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