Qoraa: Janice Evans
Taariikhda Abuurista: 3 Julay 2021
Taariikhda Cusboonaysiinta: 15 Noofeembar 2024
Anonim
Baaritaanka DNA -ga ee Bilaa Uurka ah - Daawo
Baaritaanka DNA -ga ee Bilaa Uurka ah - Daawo

Qanacsan

Waa maxay baaritaanka DNA-da unugga ka-horreeya ee uurka leh (cfDNA)?

Baadhitaanka DNA-da ee unugyada uurka ka horreeya (cfDNA) waa baadhitaan dhiig oo loogu talagalay haweenka uurka leh. Xilliga uurka, qaar ka mid ah DNA-da ilmaha aan dhalan ayaa ku wareega dhiigga hooyada. Baadhitaanka 'cfDNA' ayaa lagu hubiyaa DNAdan si loo ogaado haddii ilmuhu u badan yahay inuu qabo cilladda Down syndrome ama cillad kale oo ay keento trisomy.

Trisomy waa cillad koromosoomyada. Chromosomes waa qeybaha unugyadaada oo ay kujiraan hiddo-wadahaaga. Hiddo-wadayaashu waa qaybo ka mid ah hidde-sideyaasha DNA ee laga soo gudbiyay hooyadaa iyo aabbahaa Waxay sitaan macluumaad go'aamiya astaamahaaga gaarka ah, sida dhererka iyo midabka indhaha.

  • Dadku caadi ahaan waxay leeyihiin 46 koromosoom, oo loo qaybiyay 23 lammaane, qol kasta.
  • Haddii mid ka mid ah labadan nooc uu leeyahay nuqul dheeri ah oo koromosoom ah, waxaa loo yaqaan 'trisomy'. Trisomy wuxuu sababa isbeddelo ku dhaca habka jirka iyo maskaxdu u koraan.
  • Cilladda Down syndrome-ka, waxaa ku jira nuqul dheeri ah oo ah kromosoomyada 21. Tan waxaa sidoo kale loo yaqaan 'trisomy 21. Down syndrome' waa cilladda koromosoom ee ugu badan Mareykanka.
  • Cilladaha kale ee trisomy waxaa ka mid ah Edwards syndrome (trisomy 18), halkaasoo uu ka jiro nuqul dheeri ah oo koromosoome 18 ah, iyo Patau syndrome (trisomy 13), halkaasoo uu ka jiro nuqul dheeri ah oo koromosoom ah 13. Cilladahaani waa dhif laakiin waxay ka daran yihiin cilladda Down syndrome-ka. Inta badan carruurta leh trisomy 18 ama trisomy 13 waxay dhintaan sanadka ugu horeeya noloshooda.

Baadhitaanka cfDNA wuxuu leeyahay khatar aad u yar adiga iyo ilmahaaga, laakiin kuugama sheegi karo hubaal haddii ilmahaagu qabo cillad koromosoom iyo in kale. Bixiyahaaga daryeelka caafimaad wuxuu ubaahan doonaa inuu dalbado baaritaano kale si loo xaqiijiyo ama meesha looga saaro ogaanshaha cudurka.


Magacyada kale: DNA-da uurjiifka unuga leh, cffDNA, baaritaanka dhalmada ee aan faafa lahayn, NIPT

Maxaa loo adeegsadaa?

Baadhitaanka cfDNA waxaa badanaa loo isticmaalaa in lagu muujiyo haddii ilmahaaga aan dhalan uu leeyahay halista sii kordheysa ee mid ka mid ah cudurada soo socda ee koromosoomka:

  • Cilladda Down syndrome-ka (trisomy 21)
  • Edwards syndrome (trisomy 18)
  • Patau syndrome (trisomy 13)

Baaritaanka waxaa sidoo kale loo isticmaali karaa in:

  • Go'aamiso jinsiga ilmaha (jinsiga). Tan waxaa laga yaabaa in la sameeyo haddii ultrasound uu muujiyo in xubnaha taranka ee ilmuhu uusan si cad u ahayn lab ama dheddig. Tan waxaa sababi kara cillad koromosoomyada galmada.
  • Hubi nooca dhiigga Rh. Rh waa borotiin laga helo unugyada dhiigga cas. Haddii aad leedahay borotiin, waxaa lagugu tixgeliyaa inaad tahay Rh positive. Haddii aadan sameyn, waxaad tahay Rh diidmo. Haddii aad tahay Rh negative oo ilmahaaga aan dhalan uu yahay Rh positive, nidaamka difaaca jirka ayaa laga yaabaa inuu weeraro unugyada dhiigga ee ilmahaaga. Haddii aad ogaatid inaad tahay Rh negative inta aad uurka leedahay, waxaad qaadan kartaa daawooyin si aad uga ilaaliso ilmahaaga dhibaatooyinka halista ah.

Baadhitaanka 'cfDNA' waxaa la samayn karaa horaanta usbuuca 10aad ee uurka.


Maxaan ugu baahanahay baaritaanka cfDNA ee dhalmada kahor?

Qaar badan oo ka mid ah bixiyeyaasha daryeelka caafimaadka ayaa kula taliya baaritaankaan haweenka uurka leh ee halista sare ugu jira cunug qaba cilad koromosoom. Waxaad halis sare ugu jiri kartaa haddii:

  • Waxaad tahay da'da 35 ama ka weyn. Da'da hooyadu waa cunsurka aasaasiga u ah cunug qaba cillad Down syndrome ama xanuunno kale oo trisomy ah. Khatartu waxay sii kordheysaa markay haweeneydu sii weynaato.
  • Waxaad dhashay cunug kale oo leh cillad koromosoom ah.
  • Ultrasound-kaaga uurjiifka ahi uma muuqan wax caadi ah.
  • Natiijooyinka kale ee baaritaanka dhalmada ka hor caadi ma ahayn.

Qaar ka mid ah bixiyeyaasha daryeelka caafimaadku waxay kugula talinayaan in la baaro dhammaan haweenka uurka leh. Tani waa sababta oo ah baaritaanka malaha wax khatar ah oo wuxuu leeyahay heer sare oo sax ah marka la barbar dhigo tijaabooyinka kale ee baaritaanka dhalmada ka hor.

Adiga iyo daryeel bixiyahaaga caafimaad waa inaad ka wada hadashaa haddii baaritaanka cfDNA uu adiga kugu habboon yahay.

Maxaa dhacaya inta lagu gudajiro baaritaanka cfDNA ee uurka kahor?

Xirfadlaha daryeelka caafimaadka ayaa tijaabo dhiig ka qaadi doona xididka gacantaada, isagoo isticmaalaya cirbad yar. Kaddib cirbada la geliyo, qadar yar oo dhiig ah ayaa lagu ururin doonaa tuubada baaritaanka ama fijaan. Waxaa laga yaabaa inaad dareento xoog wax yar ah markii irbadda ay soo galayso ama ay ka baxeyso. Tani badanaa waxay qaadataa in ka yar shan daqiiqo.


Ma u baahanahay inaan sameeyo wax uun si aan ugu diyaar garoobo imtixaankan?

Waxaad ubaahantahay inaad lahadasho lataliyaha hidaha kahor intaadan isbaarin. Lataliyaha hidaha ayaa ah xirfadle si gaar ah ugu tababaran hidaha iyo baaritaanka hidaha. Isaga ama iyada ayaa kuu sharxi kara natiijooyinka suurtagalka ah iyo macnaha ay u yeelan karaan adiga iyo ilmahaaga.

Ma jiraan wax khatar ah oo imtaxaanku leeyahay?

Ma jiraan wax khatar ah oo ku saabsan ilmahaaga aan dhalan iyo qatar aad u yar oo adiga kugu imaanaysa. Waxaa laga yaabaa inaad xanuun yar ama nabar ku yeelato barta irbadda lagu muday, laakiin astaamaha badankood si dhakhso leh ayey u baxaan.

Maxay natiijooyinka ka dhigan yihiin?

Haddii natiijooyinkaagu ahaayeen kuwo taban, uma badna inuu ilmahaagu qabo cilladda Down syndrome ama cillad kale oo trisomy ah. Haddii natiijooyinkaagu ahaayeen kuwa wanaagsan, waxay ka dhigan tahay inay jirto khatar sii kordheysa oo ah inuu ilmahaagu qabo mid ka mid ah cilladahaas. Laakiin si xaqiiqo ah kuuguuguma sheegi karto haddii ilmahaagu wax yeello. Baadhitaan dheeraad ah oo la xaqiijiyay waxaad u baahan doontaa baaritaanno kale, sida amniocentesis iyo samrling chorionic villus (CVS). Baadhitaanadani badanaa waa habab aad u ammaan badan, laakiin waxay leeyihiin khatar yar oo sababi karta dhicin.

Haddii aad su'aalo ka qabtid natiijooyinkaaga, la hadal daryeel caafimaad bixiyahaaga iyo / ama la-taliyaha hidda-socodka.

Wax badan ka baro baaritaanka shaybaarka, kala duwanaanshaha tixraaca, iyo fahamka natiijooyinka.

Ma jiraan wax kale oo aan u baahanahay inaan ka ogaado baaritaanka cfDNA ee uurka kahor?

Baadhitaanada cfDNA kuma saxna dumarka uurka leh in kabadan hal cunug (mataano, seddex mataano, ama kabadan).

Tixraacyo

  1. ACOG: Shirweynaha Mareykanka ee Dhakhaatiirta Haweenka iyo Haweenka [Internet]. Washington DC: Congress-ka Mareykanka ee Dhakhaatiirta Haweenka iyo Haweenka; c2019. Tijaabada Baaritaanka DNA-ga Uur Bilaashka ah ee Uurka; [daliishaday 2019 Nofeembar 1]; [ilaa 3 shaashad]. Waxaa laga heli karaa: https://www.acog.org/Patients/FAQs/Cell-free-DNA-Prenatal-Screening-Test-Infographic
  2. ACOG: Shirweynaha Mareykanka ee Dhakhaatiirta Haweenka iyo Haweenka [Internet]. Washington DC: Congress-ka Mareykanka ee Dhakhaatiirta Haweenka iyo Haweenka; c2019. Xaqiiqda Rh: Sidee ayey u saameyn kartaa uurkaaga; 2018 Feb [daliishaday 2019 Nofeembar 1]; [ilaa 3 shaashad]. Waxaa laga heli karaa: https://www.acog.org/Patients/FAQs/The-Rh-Factor-How-It-Can-Affect-Your-Pregnancy#what
  3. Xarumaha Xakamaynta iyo Kahortagga Cudurrada [Internetka]. Atlanta: Waaxda Caafimaadka iyo Adeegyada Aadanaha ee Mareykanka; La-talinta Hiddaha; [daliishaday 2019 Nofeembar 1]; [ilaa 2 shaashad]. Waxaa laga heli karaa: https://www.cdc.gov/genomics/gtesting/genetic_counseling.htm
  4. Tijaabooyinka Shaybaarka ee Internetka [Internetka] Washington DC: Ururka Mareykanka ee Kiimikada Caafimaadka; c2001–2019. DNA-da Uur-ku-jirta ee Unugyada [cusboonaysiiyay 2019 Meey 3; daliishaday 2019 Nofeembar 1]; [ilaa 2 shaashad]. Waxaa laga heli karaa: https://labtestsonline.org/tests/cell-free-fetal-dna
  5. Maarso ee Dimes [Internet]. Arlington (VA): Maarso ee Dimes; c2019. Cilladda Down Syndrome; [daliishaday 2019 Nofeembar 1]; [ilaa 3 shaashad]. Waxaa laga heli karaa: https://www.marchofdimes.org/complications/down-syndrome.aspx
  6. Maarso ee Dimes [Internet]. Arlington (VA): Maarso ee Dimes; c2019. Imtixaanada uurka kahor; [xigasho 2019 Nofeembar 1]; [ilaa 3 shaashad]. Waxaa laga heli karaa: https://www.marchofdimes.org/pregnancy/prenatal-tests.aspx
  7. Mayo Clinic [Internet]. Aasaaska Mayo ee Caafimaadka Caafimaadka iyo Cilmi-baarista; c1998–2019. Baadhitaanka DNA-ga ee unugyada uurka leh ka hor: Guudmarka; 2018 Sep 27 [daliishaday 2019 Nov 1]; [ilaa 3 shaashad]. Waxaa laga heli karaa: https://www.mayoclinic.org/tests-procedures/noninvasive-prenatal-testing/about/pac-20384574
  8. Nooca Merck Manual Consumer Version [Internet]. Kenilworth (NJ): Shirkadda Merck & Co. c2019. Tijaabinta Uur-qaadista Uurka; [cusboonaysiiyay 2017 Jun; daliishaday 2019 Nofeembar 1]; [ilaa 3 shaashad]. Waxaa laga heli karaa: https://www.merckmanuals.com/home/women-s-health-issues/detection-of-genetic-disorders/prenatal-diagnostic-testing
  9. Bulshada Down Syndrome Society [Internet] .Washington DC: Bulshada Cillada Down Down Syndrome; c2019. Fahmitaanka Ciladda Cilladda Down Syndrome; [daliishaday 2019 Nofeembar 1]; [ilaa 2 shaashad]. Waxaa laga heli karaa: https://www.ndss.org/resources/understanding-a-diagnosis-of-down-syndrome
  10. Machadka Wadnaha, Sambabka, iyo Machadka Dhiiga [Internet]. Bethesda (MD): Waaxda Caafimaadka iyo Adeegyada Aadanaha ee Mareykanka; Tijaabooyinka Dhiigga; [xigasho 2019 Nofeembar 1]; [ilaa 3 shaashad]. Waxaa laga heli karaa: https://www.nhlbi.nih.gov/health-topics/blood-tests
  11. Bulshada Qaranka ee La-taliyayaasha Hiddaha [Internetka]. Chicago: Bulshada Qaranka ee La-taliyayaasha Hiddaha; c2019. Uurka Ka Hor iyo Inta Uurka Leh; [xigasho 2019 Nofeembar 1]; [ilaa 4 shaashadood]. Waxaa laga heli karaa: http://aboutgeneticcounselors.com/Genetic-Conditions/Prenatal-Conditions
  12. Rafi I, Chitty L. DNA-da uurjiifka unugyada ka baxsan iyo baaritaanka dhalmada ka hor ee aan faafin. Br J Gen Tababar. [Internetka]. 2009 Meey 1 [daliishaday 2019 Nov 1]; 59 (562): e146-8. Waxaa laga heli karaa: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2673181
  13. Jaamacadda Rochester Medical Center [Internet]. Rochester (NY): Jaamacadda Rochester Medical Center; c2019. Caafimaadka Encyclopedia: Baadhitaanka ugu horreeya ee saddexda bilood ee ugu horreeya; [daliishaday 2019 Nofeembar 1]; [ilaa 2 shaashad]. Waxaa laga heli karaa: https://www.urmc.rochester.edu/encyclopedia/content.aspx?contenttypeid=90&contentid=P08568
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Macluumaadka ku yaal boggan waa in aan loo isticmaalin beddel daryeel caafimaad oo xirfad leh ama talo. La xiriir bixiye daryeel caafimaad haddii aad su'aalo ka qabtid caafimaadkaaga.

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