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He aha kahi kānana DNA ʻole (prenatal cell-free DNA) (cfDNA) e nānā ʻia?

ʻO ka Prenatal cell-free DNA (CFDNA) ka hōʻoia ʻana i ke koko no nā wahine hāpai. I ka wā o ka hāpai ʻana, ke hele nei kekahi o ka DNA hānau o kahi pēpē i ke kahe o ke koko o ka makuahine. Nānā kahi kānana CFDNA i kēia DNA e ʻike inā loaʻa pinepine ka pēpē Down i ka maʻi maʻi a i ʻole kekahi maʻi ʻē aʻe i hoʻokumu ʻia e kahi trisomy.

ʻO kahi trisomy kahi maʻi o nā chromosome. ʻO nā Chromosome nā ʻāpana o kāu mau pūnaewele i loaʻa i kāu mau ʻāpana. ʻO nā ʻāpana nā ʻāpana o ka DNA i hoʻoili ʻia mai kou makuahine a me kou makuakāne. Hāpai lākou i ka ʻike e hoʻoholo ai i kāu ʻano kū hoʻokahi, e like me ke kiʻekiʻe a me ke kala o ka maka.

  • Loaʻa i nā kānaka he 46 chromosome, i mahele ʻia i 23 mau pālua, i kēlā me kēia cell.
  • Inā loaʻa i kekahi o kēia mau pālua he kope keu o ka chromosome, ua kapa ʻia he trisomy. Hoʻokumu kahi trisomy i nā loli i ke ala e ulu ai ke kino a me ka lolo.
  • I Down Syndrome, aia kekahi kope hou o ka chromosome 21. ʻIke ʻia kēia ma ke ʻano he trisomy 21. ʻO Down Syndrome ka maʻi chromosome maʻa mau i ʻAmelika Hui Pū ʻIa.
  • ʻO nā maʻi trisomy ʻē aʻe e like me Edwards Syndrome (trisomy 18), kahi i loaʻa kahi kope keu o ka chromosome 18, a me ka Patau syndrome (trisomy 13), kahi i loaʻa kahi kope keu o ka chromosome 13. He laha kēia mau maʻi akā ʻoi aku ka koʻikoʻi ma mua o Down Syndrome. ʻO ka hapa nui o nā pēpē me trisomy 18 a i ʻole trisomy 13 e make i loko o ka makahiki mua o ke ola.

ʻAʻoheʻuʻuku ka makaʻu ʻana o kahi kānana CFDNA iā ʻoe a me kāu pēpē, akā ʻaʻole hiki iā ia ke haʻi iā ʻoe inā he maʻi chromosome kāu pēpē. Pono kāu mea mālama ola e kauoha i nā hoʻokolohua ʻē aʻe e hōʻoia a hōʻalo paha i kahi kuhi.


Nā inoa ʻē aʻe: DNA fetal-cell fetal, cffDNA, hoʻokolohua prenatal ʻole invasive, NIPT

Hoʻohana ʻia no ke aha?

Hoʻohana pinepine ʻia kahi kānana CFDNA e hōʻike inā loaʻa ka nui o ka makaʻu o kāu pēpē i hānau ʻole ʻia no kekahi o nā maʻi chromosome aʻe:

  • Down syndrome (trisomy 21)
  • Edwards maʻi pale (trisomy 18)
  • Patau syndrome (trisomy 13)

Hiki ke hoʻohana ʻia ke kānana ʻana i:

  • E hoʻoholo i ka wahine kāne a wahine paha. Hiki ke hana ʻia inā hōʻike kahi ultrasound i ka maopopo ʻole o nā genital o kahi pēpē he kāne a wahine paha. Hiki ke kumu ʻia kēia e kahi maʻi o nā chromosome wahine.
  • Hōʻoia Rh ʻano koko. He protein ʻo Rh i loaʻa i nā hunaola ʻulaʻula. Inā loaʻa iā ʻoe ka protein, manaʻo ʻia ʻoe ʻo Rh maikaʻi. Inā ʻaʻole ʻoe, Rh maikaʻi ʻole ʻoe. Inā maikaʻi ʻole ʻoe a Rh a maikaʻi ʻole kāu pēpē i hānau ʻole ʻia Rh, hiki i kou ʻōnaehana pale kino ke hoʻouka i nā hunaola koko o kāu pēpē. Inā ʻike ʻoe he Rh maikaʻi ʻole ʻoe i ka wā mua o ka hāpai ʻana, hiki iā ʻoe ke lawe i nā lāʻau e pale ai i kāu pēpē mai nā pilikia weliweli.

Hiki ke hana ʻia kahi kānana CFDNA i ka wiki 10 o ka hāpai ʻana.


No ke aha wau e pono ai i kahi kānana CFDNA prenatal e nānā?

Hoʻomaopopo ka poʻe lawelawe olakino he nui i kēia loiloi i nā wahine hāpai i ʻoi aku ka nui o ka makaʻu i ka loaʻa ʻana o kahi pēpē me ka maʻi chromosome. Hiki paha iā ʻoe ke makaʻu kiʻekiʻe aʻe inā:

  • He 35 a ʻoi kou mau makahiki. ʻO ka makahiki o ka makuahine ka mea nui pilikia no ka loaʻa ʻana o kahi pēpē me Down Syndrome a i ʻole nā ​​maʻi trisomy ʻē aʻe. Hoʻonui ka makaʻi i ka nui ʻana o ka wahine.
  • Ua loaʻa iā ʻoe kahi pēpē hou aʻe me ka maʻi chromosome.
  • ʻAʻole i nānā maʻamau kāu ultrasound fetal.
  • ʻAʻole maʻamau nā hopena hōʻike prenatal ʻē aʻe.

Paipai kekahi kahu mālama ola i ka nānā ʻana i nā wahine hāpai āpau. ʻO kēia no ka mea ʻaneʻane ʻaʻohe makaʻu o ka kānana a he kiʻekiʻe kiʻekiʻe o ka pololei ke hoʻohālikelike ʻia me nā hoʻokolohua loiloi prenatal ʻē aʻe.

Pono ʻoe a me kāu kahu mālama ola e kūkākūkā inā kūpono kahi kānana CFDNA nāu.

He aha ka mea e hana ai i ka nānā ʻana i ka CFDNA prenatal?

E lawe kahi ʻoihana mālama ola i kahi laʻana koko mai kahi aa i kou lima, e hoʻohana ana i kahi nila kuʻikuʻi. Ma hope o ka hoʻokomo ʻia ʻana o ka nila, e hōʻiliʻili ʻia kahi koko liʻiliʻi i loko o kahi pahu hoʻāʻo a ipu paha. Hiki paha iā ʻoe ke ʻoni iki i ka wā e hele ai a kuʻi paha ka nila. Lōʻihi kēia ma mua o ʻelima mau minuke.


E pono paha wau e hana i kekahi mea e hoʻomākaukau ai no kēia hōʻike?

E makemake paha ʻoe e ʻōlelo i kahi kākāʻōlelo genetic ma mua o ka hoʻāʻo ʻana. He loea aʻoaʻo aʻo loea kūikawā i ka genetics a me ka hoʻāʻo genetic. Hiki iā ia ke wehewehe i nā hopena i hiki a me ke ʻano o lākou iā ʻoe a me kāu pēpē.

Aia kekahi mau pilikia i ka hoʻāʻo?

ʻAʻohe mea makaʻu i kāu pēpē i hānau ʻole a liʻiliʻi iki iā ʻoe. Loaʻa paha iā ʻoe ka ʻeha a ʻeha paha ma kahi o ka nila i hoʻokomo ʻia ai, akā ʻo ka hapa nui o nā ʻōuli e hele wikiwiki aku.

He aha ke ʻano o nā hopena?

Inā maikaʻi ʻole kāu hopena, ʻaʻole paha paha loaʻa kāu pēpē i Down Syndrome a i ʻole kahi maʻi trisomy ʻē aʻe. Inā maikaʻi kāu mau hopena, ʻo ia hoʻi ka hoʻonui ʻia o ka makaʻu i loaʻa i kāu pēpē kekahi o kēia mau maʻi. Akā ʻaʻole hiki ke haʻi pololei iā ʻoe inā pili kāu pēpē. No kahi hōʻoia hou aku e pono ai ʻoe i nā hoʻokolohua ʻē aʻe, e like me ka amniocentesis a me ka chorionic villus sampling (CVS). He palekana loa kēia mau hoʻāʻo, akā loaʻa iā lākou i kahi makaʻu iki o ka hānau ʻana.

Inā he mau nīnau kāu e pili ana i kāu mau hopena, e kamaʻilio me kāu kauka olakino a / a i ʻole he kākāʻolelo aʻoaʻo.

E aʻo hou aʻe e pili ana i nā hoʻokolohua hoʻokolohua, nā pae kuhikuhi, a me ka hoʻomaopopo ʻana i nā hopena.

Aia kekahi mea ʻē aʻe e pono iaʻu e ʻike e pili ana i kahi kānana CFDNA prenatal?

ʻAʻole pololei nā kānana CFDNA i nā wahine hāpai i nā keiki ʻoi aku ma mua o hoʻokahi (māhoe, ʻekolu a ʻoi aku paha).

Nā kūmole

  1. ACOG: ʻO ka ʻAmelika Hui Pū ʻIa o nā Obstetricians a me nā Gynecologists [Pūnaewele]. Wakinekona D.C .: ʻAmelika Hui Pū ʻIa o nā Obstetricians a me nā Gynecologists; c2019. Hōʻike ʻImi Loiloi DNA Prenatal Cell-Free; [helu ʻia 2019 Nov 1]; [ma kahi o 3 pale]. Loaʻa mai: https://www.acog.org/Patients/FAQs/Cell-free-DNA-Prenatal-Screening-Test-Infographic
  2. ACOG: ʻO ka ʻAmelika Hui Pū ʻIa o nā Obstetricians a me nā Gynecologists [Pūnaewele]. Wakinekona D.C .: ʻAmelike ʻAmelika o nā Obstetricians a me nā Gynecologists; c2019. ʻO ka Rh Factor: Pehea e hopena ai i kāu hāpai ʻana; 2018 Feb [helu ʻia 2019 Nov 1]; [ma kahi o 3 pale]. Loaʻa mai: https://www.acog.org/Patients/FAQs/The-Rh-Factor-How-It-Can-Affect-Your-Pregnancy#what
  3. Nā kikowaena no ka mālama ʻana i ka maʻi a me ka pale ʻana [Pūnaewele]. Atlanta: Ke Keʻena ʻOihana Ola a me nā Lawelawe Pono ʻAmelika; ʻSellelo aʻoaʻo genetic; [helu ʻia 2019 Nov 1]; [ma kahi o 2 pale]. Loaʻa mai: https://www.cdc.gov/genomics/gtesting/genetic_counseling.htm
  4. Nā Hoʻokolohua Lab ma ka Pūnaewele [Pūnaewele]. Wakinekona D.C .: ʻAmelika Hui Pū ʻIa no ka Chemical Clinical; c2001–2019. DNA fetal-noa fetal; [hōʻano hou ʻia 2019 Mei 3; haʻi ʻia 2019 Nov 1]; [ma kahi o 2 pale]. Loaʻa mai: https://labtestsonline.org/tests/cell-free-fetal-dna
  5. Malaki o nā Dime [Pūnaewele]. Arlington (VA): Malaki o nā Dime; c2019. Down Syndrome; [helu ʻia 2019 Nov 1]; [ma kahi o 3 pale]. Loaʻa mai: https://www.marchofdimes.org/complications/down-syndrome.aspx
  6. Malaki o nā Dime [Pūnaewele]. Arlington (VA): Malaki o nā Dime; c2019. Nā Hōʻaʻo Prenatal; [helu ʻia 2019 Nov 1]; [ma kahi o 3 pale]. Loaʻa mai: https://www.marchofdimes.org/pregnancy/prenatal-tests.aspx
  7. Mayo Clinic [Pūnaewele]. Mayo Foundation no ka Hoʻomaʻamaʻa Lapaʻau a me ka noiʻi; c1998–2019. ʻO ka kānana DNA cell-free Prenatal: Overview; 2018 Sep 27 [helu ʻia 2019 Nov 1]; [ma kahi o 3 pale]. Loaʻa mai: https://www.mayoclinic.org/tests-procedures/noninvasive-prenatal-testing/about/pac-20384574
  8. Merck Manual Mea Kūʻai Manuahi [Pūnaewele]. Kenilworth (NJ): Merck & Co. Inc.; c2019. Hōʻikeʻike Prenatal Diagnostic; [hoʻohou 2017 Jun; haʻi ʻia 2019 Nov 1]; [ma kahi o 3 pale]. Loaʻa mai: https://www.merckmanuals.com/home/women-s-health-issues/detection-of-genetic-disorder/prenatal-diagnostic-testing
  9. National Down Syndrome Society [Pūnaewele] .Washington D.C .: National Down Syndrome Society; c2019. Ka hoʻomaopopo ʻana i kahi kuhi o Down Syndrome; [helu ʻia 2019 Nov 1]; [ma kahi o 2 pale]. Loaʻa mai: https://www.ndss.org/resource/understanding-a-diagnosis-of-down-syndrome
  10. National Heart, Lung, and Blood Institute [Pūnaewele]. Bethesda (MD): Ke Keʻena ʻOihana Ola a me nā lawelawe kanaka; Nā ho'āʻo koko; [helu ʻia 2019 Nov 1]; [ma kahi o 3 pale]. Loaʻa mai: https://www.nhlbi.nih.gov/health-topics/blood-tests
  11. National Society of Genetic Counselors [Pūnaewele]. ʻO Kikako: National Society of Genetic Counselors; c2019. Ma mua a ma loko o ka hāpai ʻana; [helu ʻia 2019 Nov 1]; [ma kahi o 4 pale]. Loaʻa mai: http://aboutgeneticcounselors.com/Genetic-Conditions/Prenatal-Conditions
  12. ʻO Rafi I, ʻo Chitty L. DNA fetal-cell fetal a me kahi hōʻailona prenatal non-invasive. ʻO Br J Gen Hoʻomaʻamaʻa. [Pūnaewele]. 2009 Mei 1 [helu ʻia 2019 Nov 1]; 59 (562): e146-8. Loaʻa mai: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2673181
  13. Kulanui o Rochester Medical Center [Pūnaewele]. Rochester (NY): Kulanui o Rochester Medical Center; c2019. ʻO Encyclopedia Health: ʻO ka loiloi mua Trimester; [helu ʻia 2019 Nov 1]; [ma kahi o 2 pale]. Loaʻa mai: https://www.urmc.rochester.edu/encyclopedia/content.aspx?contenttypeid=90&contentid=P08568
  14. Kulanui o Rochester Medical Center [Pūnaewele]. Rochester (NY): Kulanui o Rochester Medical Center; c2019. ʻO Encyclopedia Health: Trisomy 13 a me Trisomy 18 i nā keiki; [helu ʻia 2019 Nov 1]; [ma kahi o 2 pale]. Loaʻa mai: https://www.urmc.rochester.edu/encyclopedia/content.aspx?contenttypeid=90&contentid=P02419
  15. UW Ola [Pūnaewele]. Madison (WI): Ke Kulanui o Wisconsin Nā Haukapila a me nā Mana Haukino; c2019. ʻIkepili Ola: Genetics: Nānā Prenatal a me ka hoʻāʻo ʻana; [hoʻohou 2019 Apr 1; haʻi ʻia 2019 Nov 1]; [ma kahi o 4 pale]. Loaʻa mai: https://www.uwhealth.org/health/topic/special/genetics/tv7695.html#tv7700
  16. UW Ola [Pūnaewele]. Madison (WI): Ke Kulanui o Wisconsin Nā Haukapila a me nā Mana Haukino; c2019. ʻIkepili Ola: Genetics: Hōʻuluʻulu Kumuhana [ʻike hou ʻia 2019 Apr 1; haʻi ʻia 2019 Nov 1]; [ma kahi o 2 pale]. Loaʻa mai: https://www.uwhealth.org/health/topic/special/genetics/tv7695.html

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