Tuhinga o mua DNA-Kore-Kore

Toka Te Manawa

• He aha te mea he tirotiro DNA-kore-kore mo te whanau (CFDNA)?
• Hei aha te whakamahi?
• He aha te take me whai tirotirohia te CFDNA o te wa whanau?
• He aha te mahi i te wa o te tirotirohanga CFDNA whanaungatanga?
• Me mahi e au tetahi mea hei whakareri mo tenei whakamatautau?
• He raru pea mo te whakamatautau?
• He aha te tikanga o nga hua?
• Kei tetahi atu mea ano me mohio au mo te tirotirohanga tatauranga CFDNA?
• Tohutoro

He aha te mea he tirotiro DNA-kore-kore mo te whanau (CFDNA)?

Ko te tirotiro i te DNA-kore-wairangi (CFDNA) he whakamatautau toto mo nga wa hapu. I te wa e hapu ana, ko etahi o nga DNA o te peepi kaore i whanau i roto i nga toto o te whaea. He tirotirohanga CFDNA e tirotirohia ana tenei DNA kia kitea mena ka tupono pea ka pehia te peepi ki te peepi, tetahi atu mate ranei na te trisomy i whakaatu.

Ko te trisomy he mate o nga chromosome. Ko nga Chromosome nga waahanga o o punua kei roto i o ira. Ko nga ira nga waahanga o te DNA i tukuna mai i to whaea me to papa. Kei a ratau nga korero e whakatau ana i o ahuatanga motuhake, penei i te teitei me te tae o te karu.

• Ko te tikanga he 46 nga chromosome a te tangata, ka tohatohahia kia 23 takirua, kei ia ruma.
• Mena ko tetahi o enei takirua he taarua taarua o te chromosome, ka kiia he trisomy. Ma te trisomy e whakarereke nga ahuatanga o te whanaketanga o te tinana me te roro.
• I roto i te Down syndrome, he taarua ano o te chromosome 21. E mohiotia ana tenei ko te trisomy 21. Ko te Down Syndrome te mate chromosome e tino kitea ana i te United States.
• Ko etahi o nga raru o te trisomy kei roto ko te Edwards Syndrome (trisomy 18), kei reira tetahi kape taarua o te chromosome 18, me te Patau syndrome (trisomy 13), kei reira ano he kape taapiri o te chromosome 13. He onge enei mate engari he kino ake i te Down syndrome. Ko te nuinga o nga peepi e mate ana i te trisomy 18, o te trisomy 13 ranei, ka mate i roto i te tau tuatahi o te ao.

He iti noa te tuponotanga ki a koe me to peepi ki te tirotiro i te CFDNA, engari kaore e taea te whakaatu atu mena he mate chromosome to to peepi. Me whakahau e to kaiwhakarato ratonga hauora etahi atu whakamatautau hei whakaū, hei whakakore ranei i te taatai.

Ko etahi ingoa: DNA-kore fetal-fetal DNA, cffDNA, whakamātautau prenatal kore-urutomo, NIPT

Hei aha te whakamahi?

I te nuinga o nga wa ka tirohia te taatai ​​CFDNA hei whakaatu mena he nui te tuponotanga o to peepi kei te whanau mo tetahi o nga mate o te chromosome e whai ake nei:

• Te mate o raro (trisomy 21)
• Mate Edwards (trisomy 18)
• Patau syndrome (trisomy 13)

Ka taea hoki te tirotiro ki:

• Whakatauhia te ira tangata o te peepi (ira tangata). Ka taea tenei ma te ultrasound e whakaatu ko nga taihemahema o te peepi kaore i tino tane, wahine ranei. Ko tenei ka pa te mate o nga chromosome takakau.
• Tirohia te momo toto Rh. He pūmua Rh ka kitea i runga i nga toto toto whero. Mena kei a koe te pūmua, ka whakaarohia he Rh pai koe. Mena kaore koe, he kino koe Rh. Mena he kino koe Rh me te mea he pai to peepi kaore i whanau, ka whakaekea e te punaha aukati o to tinana nga toto toto o to tamaiti. Mena ka mohio koe kei te kino Rh koe i te wa e hapu ana koe, ka taea te tango rongoa hei tiaki i to peepi mai i nga raru kino.

Ka taea te mahi tirotiro CFDNA i te wiki 10 o te haputanga.

He aha te take me whai tirotirohia te CFDNA o te wa whanau?

He maha nga kaiwhakarato hauora e taunaki ana i tenei tirotirohanga ki nga wahine hapu kua nui ake te tupono ka whanau he peepi kua pangia e te mate chromosome. Akene he nui ake to morearea ki te:

• He 35 tau koe neke atu ranei. Ko te tau o te whaea te mea morearea tuatahi mo te whanau peepi me te Down syndrome me etahi atu mate pukupuku trisomy. Ka nui ake te tuponotanga ka pakeke haere te wahine.
• Kua whanau ano to peepi me te mate o te chromosome.
• Kaore i rite te ahua o to ultrasound fetal.
• Ko etahi atu o nga kitenga whakamatautau i mua kaore i te tikanga.

Ko etahi o nga kaitautoko hauora e taunaki ana kia tirotirohia nga waahine hapu katoa. I ahu mai tenei na te mea kaore he morearea o te tirotirohanga a he nui te tika o te tika ki era atu whakamātautau tirotiro prenatal.

Me korero e korua ko to ratonga hauora mena e tika ana te tirotirohanga CFDNA maau.

He aha te mahi i te wa o te tirotirohanga CFDNA whanaungatanga?

Ka tangohia e tetahi tohunga ngaio hauora tetahi tauira toto mai i te uaua i roto i to ringa, ma te whakamahi i te ngira iti. Whai muri i te kuhunga o te ngira, ka kohia he toto iti ki roto i te ipuipu, ipu ranei. Akene he iti to ngau ka puta te ngira ki waho ka puta atu ranei. Ko te tikanga ka iti ake i te rima meneti tenei.

Me mahi e au tetahi mea hei whakareri mo tenei whakamatautau?

Akene ka hiahia koe ki te korero ki tetahi kaitohutohu whakapapa i mua i to whakamatautauranga. Ko te kaitohutohu a-ira he tohunga ngaio whakangungu i roto i te whakapapa me te whakamatau ira. Ka taea e ia te whakamarama i nga hua ka taea me nga mea e pa ana ki a koe me to peepi.

He raru pea mo te whakamatautau?

Kaore he raru ki to peepi kaore ano kia whanau, me te iti o te tuponotanga ki a koe. Ka mamae pea koe, ka maru ranei koe i te waahi i maka ai te ngira, engari ko te nuinga o nga tohu ka tere wawe.

He aha te tikanga o nga hua?

Mena he kino nga hua i puta mai, kaore pea ka peera to peepi i to peepi, tetahi atu mate trisomy ranei. Mena he pai o hua, ko te tikanga ka nui ake te tuponotanga kei te pa tetahi o enei mate ki to peepi. Engari kaore e taea te whakaatu ki a koe mena kua pangia to peepi. Mo te taatai ​​kua whakatuturutia ka hiahiatia etahi atu whakamatautau, penei i te amniocentesis me te chorionic villus sampling (CVS). Ko enei whakamātautau he tikanga tino haumaru, engari he iti ake te awangawanga ka pa he pohehe.

Mena he paatai ​​taau e pa ana ki o hua, korero ki to kaiwhakarato hauora / me te kaitohutohu ira ranei.

Ako atu mo nga whakamatautau taiwhanga, awhe tohutoro, me te maarama ki nga hua.

Kei tetahi atu mea ano me mohio au mo te tirotirohanga tatauranga CFDNA?

Ko nga whakaaturanga CFDNA kaore i te tika i roto i nga waahine e hapu ana neke atu i te kotahi peepi (mahanga, takirua, neke atu ranei).

Tohutoro

1. ACOG: Ko te Huihuinga Amerikana mo nga Kaimahi Tuturu me nga Hinengaro [Ipurangi]. Washington D.C .: American Congress of Obstetricians and Gynecologists; c2019. Whakamatau Whakamatau mo te Whakamaatautau DNA Taaputanga-Kore; [whakahua 2019 Nov 1]; [tata ki te 3 nga mata]. Wātea mai i: https://www.acog.org/Patients/FAQs/Cell-free-DNA-Prenatal-Screening-Test-Infographic
2. ACOG: Ko te Huihuinga Amerikana mo nga Kaimahi Tuturu me nga Whaahine [Ipurangi]. Washington D.C .: American Congress of Obstetricians and Gynecologists; c2019. Te Take Rh: Me pehea e pa ai to Hapai; 2018 Pepu [i tohua 2019 Nov 1]; [tata ki te 3 nga mata]. Wātea mai i: https://www.acog.org/Patients/FAQs/The-Rh-Factor-How-It-Can-Affect-Your-Pregnancy#what
3. Nga Pokapū mo te Whakahaere Mate me te Aukati [Ipurangi]. Atlanta: Te Tari Hauora me nga Ratonga Tangata a U.S. Tohutohu Taketake; [whakahua 2019 Nov 1]; [tata ki te 2 nga mata]. Wātea mai i: https://www.cdc.gov/genomics/gtesting/genetic_counseling.htm
4. Nga Whakamatautau Reipa Aipurangi [Ipurangi]. Washington D.C .: American Association mo te Haumanu Haumanu; c2001–2019. DNA Fetal-Kore Fetal; [whakahoutia 2019 Mei 3; whakahuahia 2019 Nov 1]; [tata ki te 2 nga mata]. Wātea mai i: https://labtestsonline.org/tests/cell-free-fetal-dna
5. Poutu-te-rangi o Rima [Ipurangi]. Arlington (VA): Poutu-te-Rangi; c2019. Hinengaro Raro; [whakahua 2019 Nov 1]; [tata ki te 3 nga mata]. Wātea mai i: https://www.marchofdimes.org/complications/down-syndrome.aspx
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7. Mayo Clinic [Ipurangi]. Mayo Foundation mo te Whakaakoranga Hauora me te Rangahau; c1998–2019. Tuhinga o mua DNA-kore-pūtau: Tirohanga; 2018 Sep 27 [whakahua 2019 Nov 1]; [tata ki te 3 nga mata]. Wātea mai i: https://www.mayoclinic.org/tests-procedures/noninvasive-prenatal-testing/about/pac-20384574
8. Merck Manual Kaihoko Putanga [Ipurangi]. Kenilworth (NJ): Merck & Co. Inc.; c2019. Whakamatau Tiwhikete Tuhinga o mua; [whakahoutia 2017 Jun; whakahuahia 2019 Nov 1]; [tata ki te 3 nga mata]. Wātea mai i: https://www.merckmanuals.com/home/women-s-health-issues/detection-of-genetic-disorder/prenatal-diagnostic-testing
9. National Down Syndrome Society [Ipurangi] .Washington D.C .: National Down Syndrome Society; c2019. Te Maarama ki te Taatari i te Down Syndrome; [whakahua 2019 Nov 1]; [tata ki te 2 nga mata]. Wātea mai i: https://www.ndss.org/resource/ Understanding-a-diagnosis-of-down-syndrome
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Ko nga korero kei tenei papaanga kaua e whakamahia hei whakakapi mo te tiaki ngaio ngaio, tohutohu ranei. Whakapa atu ki te kaiwhakarato hauora mena he paatai ​​taau mo to hauora.