Tusitala: Janice Evans
Aso O Foafoaga: 3 Iuli 2021
Faafouga Aso: 18 Novema 2024
Anonim
Prenatal Cell-Free DNA Screening (cfDNA Screening)
Ata: Prenatal Cell-Free DNA Screening (cfDNA Screening)

Anotusi

O le a le suʻesuʻega ole sela ole sela ole fanau (CFDNA)?

Prenatal cell-free DNA (CFDNA) ose suʻega ile toto mo fafine maʻitaga. I le taimi o le maitaga, o nisi o le pepe e le i fanau mai le DNA e taamilo i le toto o le tina. O le siakiina o le CFDNA siaki lenei DNA e iloa ai pe o le pepe e ono maua i Down syndrome poʻo se isi faʻafitauli mafua mai i le trisomy.

O le trisomy o se faʻaletonu o le chromosome. Chromosome o ni vaega o ou sela o loʻo i ai ou genes. O kenera o ni vaega o DNA na faʻasolo mai i lou tina ma lou tama. Latou te aveina faʻamatalaga e iloa ai ou uiga uiga ese, pei o le maualuga ma le lanu o mata.

  • E masani ona maua e tagata le 46 chromosome, vaevaeina i paga e 23, i potu taʻitasi.
  • Afai o se tasi o nei paga i ai se faʻaopopo kopi o le chromosome, e taʻua o le trisomy. O le trisomy e mafua ai suiga ile auala e tupu aʻe ai le tino ma le faiʻai.
  • I le Down syndrome, o loʻo iai le isi kopi o le chromosome 21. O lenei foʻi e taʻua o le trisomy 21. O le Down syndrome o le faʻamaʻi sili lea o le chromosome i le Iunaite Setete.
  • O isi faʻamaʻi o le trisomy e aofia ai le Edwards syndrome (trisomy 18), o loʻo i ai le kopi faʻaopoopo o le chromosome 18, ma le Patau syndrome (trisomy 13), o loʻo i ai le kopi faʻaopoopo o le chromosome 13. O nei faʻalavelave e seasea tupu, ae sili atu ona matuia nai lo Down syndrome. Ole tele o pepe e maua ile trisomy 18 poʻo le trisomy 13 e feoti i totonu ole tausaga muamua ole olaga.

O le siakiina o le CFDNA e laʻititi se aʻafiaga ia te oe ma lau pepe, ae le mafai ona taʻuina atu ia te oe pe o iai se faʻamaʻi o le chromosome i lau pepe E manaʻomia e lau tausi soifua maloloina ona poloa isi faʻamaoniga e faʻamaonia pe faʻateʻa ai se faʻamaoniga.


Isi igoa: sela-leai fetal DNA, cffDNA, leai-osofaʻiga prenatal tofotofoga, NIPT

O le a le mea e faʻaaoga ai?

O le suʻesuʻeina ole CFDNA e masani ona faʻaaogaina e faʻaalia ai pe afai o lau pepe e leʻi fananau mai e tele lona aʻafiaga mo se tasi o faʻalavelave ole chromosome nei:

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

E mafai foʻi ona faʻaaogaina le suʻega e:

  • Fuafua le itupa o le pepe (itupa). E mafai ona fai lenei mea peʻa faʻaalia i le ultrasound e leʻo manino se itupa o se pepe e tama poʻo se fafine. Lenei ono mafua mai i se faʻaletonu o le sex chromosome.
  • Siaki le toto toto Rh. Rh o se polotini e maua i sela mumu toto. A iai sau polotini, e taʻua oe o Rh e lelei. A e le faia, ua e le lelei Rh. Afai o oe o Rh leaga ma o lau pepe e le i fananau mai o Rh lelei, o lou tino sisitema mafai ona osofaia sela o lau pepe sela. Afai e te iloa o oe o Rh leaga i le amataga o le maʻito, e mafai ona e inu vailaʻau e puipui ai lau pepe mai faʻafitauli faigata.

E mafai ona faia se suʻega ole CFDNA ile amataga ole vaiaso ole 10 o le maʻitaga.


Aisea ou te manaʻomia ai se suʻega CFDNA amataina?

Toatele tausi soifua maloloina fautuaina lenei siakiina i fafine maʻitaga oe sili atu le lamatiaga o le maua o se pepe ma le chromosome maʻi. Oe ono i ai i sili maualuga tulaga lamatia pe afai:

  • Ua 35 ou tausaga pe sili atu foʻi. O le matua o le matua o le mafuaʻaga sili lea tulaga lamatia mo le mauaina o se pepe ma Down syndrome poʻo isi faʻafitauli o le trisomy. Ua faateleina le tulaga lamatia a o faasolo ina matua se fafine.
  • Ua e maua se isi pepe ma le maua i le chromosome faʻamaʻi.
  • O lau fetal ultrasound e leʻi foliga masani.
  • O isi suʻesuʻega o le prenatal e leʻi masani.

O nisi tausi soifua maloloina fautuaina le siakiina i fafine maʻitaga uma. E mafua ona o le suʻesuʻega e toeititi lava leai se aʻafiaga ma e maualuga le fua faatatau o le faʻatusatusa i isi faʻataʻitaʻiga siaki muamua.

Oe ma lau fomaʻi tausi soifua tatau ona talanoaina pe a fai o le CFDNA siaki e fetaui mo oe.

O le a le mea e tupu i le taimi o le faʻamavaega CFDNA suʻega

O le polofesa mo le soifua maloloina o le a ave se toto faʻataʻitaʻiga mai se uaua i lou lima, faʻaaoga ai se tamaʻi nila. A maeʻa ona tuʻu i totonu le nila, o le a faʻaputuputuina se vaega laʻititi o le toto i totonu o se faʻamaoniga poʻo se ipu. Atonu e te lagonaina sina tiga pe a alu le nila i totonu pe fafo. Lenei masani ona alu ifo i lalo o le lima minute.


Mata e tatau ona ou faia se mea e sauniuni ai mo lenei suʻega?

Atonu e te manaʻo e talanoa i se faufautua o kenera ae e te leʻi faʻataʻitaʻia. O se faufautua kenera o se faʻapitoa aʻoaʻoina faʻapitoa i genetics ma faʻasologa genetic. E mafai ona ia faʻamatalaina faʻaiuga e ono maua ai ma le uiga ia te oe ma lau pepe.

E i ai ni lamatiaga i le suʻega?

E leai se lamatiaga i lau pepe e le i fanau mai ma e laitiiti se tulaga lamatia ia te oe. E i ai sina tiga poʻo se tiga i le mea na tuu ai le nila, ae o le tele o faʻailoga e vave ona alu ese.

O le a le uiga o faʻaiuga?

Afai o au faʻaiuga e le lelei, e ono le maua e lau pepe le Down syndrome poʻo seisi faʻamaʻi o le trisomy. A faʻapea o lau iʻuga sa lelei, o lona uiga ua faʻateleina le ono aʻafia o lau pepe i se tasi o faʻamaʻi nei. Ae le mafai ona taʻuina atu ia te oe mautinoa pe a aʻafia lau pepe. Mo se faʻamaoniga sili faʻamaonia e te manaʻomia isi suʻega, pei o le amniocentesis ma le chorionic villus sampling (CVS). O nei faʻataʻitaʻiga e masani lava ona sefe, peitaʻi e i ai sina faʻalavelave e ono mafua ai le maʻitaga.

A iai ni au fesili e uiga i au iʻuga, talanoa i lau fomaʻi ma / poʻo se faufautua kenera.

Aʻoaʻo atili e uiga i suʻesuʻega falesuesue, vaitau o faʻasino, ma malamalamaaga i iʻuga

E i ai seisi mea e tatau ona ou iloa e uiga i le faʻatumuina ole CFDNA suʻega?

Ole suʻega ole CFDNA e leʻo saʻo ile fafine o loʻo maʻitaga ile sili atu ile tasi pepe (masaga, masaga tolu, pe sili atu).

Faʻamatalaga

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  2. ACOG: Le American Congress of Obstetricians ma Gynecologists [Initaneti]. Washington D.C .: American Congress of Obstetricians ma Gynecologists; c2019. O le Rh Factor: Faʻafefea ona afaina ai lou maʻitaga; 2018 Fepuari [taʻua 2019 Nov 1]; [pe tusa ma le 3 pupuni] Avanoa mai: https://www.acog.org/Patients/FAQs/The-Rh-Factor-How-It-Can-Affect-Your-Pregnancy#what
  3. Nofoaga autu mo le Faʻatonutonuina o Faamaʻi ma Initaneti [Initaneti]. Atlanta: U.S. Matagaluega o le Soifua Maloloina ma Tagata Auaunaga; Fautuaina i Kenera; [taʻua 2019 Nov 1]; [pe a ma le 2 pupuni] Avanoa mai: https://www.cdc.gov/genomics/gtesting/genetic_counseling.htm
  4. Lab Tofotofoga lugalaina [Initaneti]. Washington D.C .: American Association mo Vailaʻau Togafitiga; c2001–2019. DNA fetal-fetal DNA; [faʻafouina 2019 Me 3; taʻua le 2019 Nov 1]; [pe a ma le 2 pupuni] Avanoa mai: https://labtestsonline.org/tests/cell-free-fetal-dna
  5. Mati o Taimi [Initaneti]. Arlington (VA): Mati o Dimes; c2019. Down Syndrome; [taʻua 2019 Nov 1]; [pe tusa ma le 3 pupuni] Avanoa mai: https://www.marchofdimes.org/complications/down-syndrome.aspx
  6. Mati o Taimi [Initaneti]. Arlington (VA): Mati o Dimes; c2019. Tofotofoga Fomaʻi; [taʻua 2019 Nov 1]; [pe tusa ma le 3 pupuni] Avanoa mai: https://www.marchofdimes.org/pregnancy/prenatal-tests.aspx
  7. Mayo Clinic [Initaneti]. Mayo Faʻavae mo Aʻoga Faʻafomaʻi ma Suesuega; i1998–2019. Prenatal cell-leai se sailiga DNA: Vaaiga aoao; 2018 Sep 27 [taʻua 2019 Nov 1]; [pe tusa ma le 3 pupuni] Avanoa mai: https://www.mayoclinic.org/tests-procedures/noninvasive-prenatal-testing/about/pac-20384574
  8. Merck Manual Consumer Version [Initaneti]. Kenilworth (NJ): Merck & Co. Inc. c2019. Suʻega Suʻega ole Prenatal Diagnostic; [faafou 2017 Iuni; taʻua le 2019 Nov 1]; [pe tusa ma le 3 pupuni] Avanoa mai: https://www.merckmanuals.com/home/women-s-health-issues/detection-of-genetic-disorder/prenatal-diagnostic-testing
  9. National Down Syndrome Sosaiete [Initaneti] .Washington D.C .: National Down Syndrome Sosaiete; c2019. Malamalama i se faʻamaoniga o Down Syndrome; [taʻua 2019 Nov 1]; [pe a ma le 2 pupuni] Avanoa mai: https://www.ndss.org/resource/understanding-a-diagnosis-of-down-syndrome
  10. National Heart, Lung, and Blood Institute [Initaneti]. Bethesda (MD): U.S. Matagaluega o le Soifua Maloloina ma Tagata Auaunaga; Tofotofoga Toto; [taʻua 2019 Nov 1]; [pe tusa ma le 3 pupuni] Avanoa mai: https://www.nhlbi.nih.gov/health-topics/blood-tests
  11. National Society of Genetic Counselors [Initaneti]. Sikako: National Society of Genetic Counsorsors; c2019. Muamua ma Ile taimi o le Maitaga; [taʻua 2019 Nov 1]; [tusa o le 4 pupuni] Avanoa mai: http://aboutgeneticcounselors.com/Genetic-Conditions/Prenatal-Conditions
  12. Rafi I, Chitty L. Cell-leai fetal DNA ma le-osofaʻiga prenatal diagnosis. Br J Gen Faʻataʻitaʻiga. [Initaneti]. 2009 Me 1 [taʻua 2019 Nov 1]; 59 (562): e146–8. Avanoa mai: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2673181
  13. Iunivesite o Rochester Medical Center [Initaneti]. Rochester (NY): Iunivesite o Rochester Medical Center; c2019. Soifua Maloloina Encyclopedia: Uluai Suʻesuʻega o le Trimester; [taʻua 2019 Nov 1]; [pe a ma le 2 pupuni] Avanoa mai: https://www.urmc.rochester.edu/encyclopedia/content.aspx?contenttypeid=90&contentid=P08568
  14. Iunivesite o Rochester Medical Center [Initaneti]. Rochester (NY): Iunivesite o Rochester Medical Center; c2019. Soifua Maloloina Encyclopedia: Trisomy 13 ma Trisomy 18 i Tamaiti; [taʻua 2019 Nov 1]; [pe a ma le 2 pupuni] Avanoa mai: https://www.urmc.rochester.edu/encyclopedia/content.aspx?contenttypeid=90&contentid=P02419
  15. UW Soifua Maloloina [Initaneti]. Madison (WI): Iunivesite o Wisconsin Falemai ma Falemai Pulega; c2019. Soifua Maloloina Faʻamatalaga: Kenetics: Prenatal Screening ma Suʻega; [faʻafouina 2019 Aperila 1; taʻua le 2019 Nov 1]; [tusa o le 4 pupuni] Avanoa mai: https://www.uwhealth.org/health/topic/special/genetics/tv7695.html#tv7700
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O faʻamatalaga i luga o lenei 'upega tafaʻilagi e le tatau ona faʻaaogaina e fai ma sui o fomaʻi faʻapitoa togafitiga poʻo fautuaga. Faʻafesoʻotaʻi le au tausi soifua pe a iai ni au fesili e uiga i lou soifua maloloina.

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