I kou wā he makuahine hāpai, he mea maʻamau ka loaʻa ʻana o nā nīnau he nui e pili ana i ka mea liʻiliʻi i loko o kou ʻōpū. No ka loaʻa ʻana o nā pane i kekahi o kēia mau nīnau, hana mākou i nā hoʻokolohua like ʻole (prenatal testing) i ka wā hāpai. No laila, ʻo kekahi o kēia mau hoʻokolohua kūikawā i kapa ʻia ʻo NIPT. Hiki i kēia ke hāʻawi iā mākou i kahi hōʻailona inā paha e pilikia ana kāu pēpē i ka loaʻa ʻana o kekahi mau kūlana genetic, e like me Down syndrome . Eia naʻe, ʻaʻole kēia he hoʻokolohua kikoʻī 100%. No laila, makemake kekahi mau kauka e kapa iā ia he NIPS (screening) ma mua o NIPT (testing). No ka mea, hōʻike wale kēia i ka pilikia.
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Pehea e hana ai i ka hoʻāʻo NIPT? He maʻalahi loa ia!
Ua lohe mākou a pau i ka DNA. Ua like ia me kahi puke i loko o kēlā me kēia cell i loko o ko mākou kino, e paʻa ana i kā mākou ʻike genetic āpau. Ua ʻike anei ʻoe e lana ana nā ʻāpana liʻiliʻi o kēia DNA i loko o ko mākou koko. Kāhea mākou i kēia he DNA cell-free, a i ʻole cfDNA?
No laila, i kou wā hāpai, aia i loko o kou koko kāu cfDNA ponoʻī, me nā ʻāpana o ka DNA o kāu pēpē (cell-free fetal DNA - cffDNA) . ʻAʻole anei he mea kupaianaha kēlā? ʻO ka hoʻāʻo NIPT e pili ana i ka lawe ʻana i kahi hāpana koko maʻalahi mai ou aku a hoʻāʻo iā ia no nā ʻāpana o ka DNA o kāu pēpē, e hāʻawi ana iā ʻoe i nā hōʻailona e pili ana i kekahi mau kūlana genetic. ʻOiai he hoʻāʻo noninvasive ia, ʻaʻohe pilikia iā ʻoe a i kāu pēpē paha.
He aha kā mākou e aʻo ai mai ka hoʻāʻo NIPT?
ʻO ka hoʻāʻo NIPT ke nānā nui nei i nā ʻano ʻē i loko o nā chromosomes. I ka ʻōlelo maʻalahi, hele pinepine nā chromosomes i nā pālua i loko o kā mākou mau cell. Akā i kekahi manawa, ma kahi o ʻelua kope o kahi chromosome, hiki ke loaʻa ʻekolu. Kāhea mākou i kēia trisomy .
Eia nā kūlana trisomy nui e nānā ai ka hoʻāʻo NIPT a me ko lākou pololei:
| Kūlana hoʻoilina | Helu Chromosome (Trisomy) | Pololei NIPT |
|---|---|---|
| ʻO ka maʻi Down | Trisomy 21 | ~99% |
| ʻO ka maʻi Edwards | Trisomy 18 | ~97% |
| ʻO ka maʻi Patau | ʻO Trisomy 13 | ~87% |
E hoʻomanaʻo: He hoʻāʻo nānā wale nō ʻo NIPT e hōʻike ana inā he pilikia. ʻAʻole hiki ke maopopo he 100% aia kahi maʻi.
Inā maikaʻi ka hopena NIPT, ʻo ia hoʻi ke hōʻike nei i kahi pilikia, pono mākou e hele no kahi hoʻāʻo diagnostic e hōʻoia iā ia. Aia ʻelua mau hoʻāʻo i hana ʻia no kēlā:
1. Amniocentesis: He kaʻina hana e pili ana i ka lawe ʻana i kahi hāpana o ka wai amniotic mai loko o ka ʻōpū a hoʻāʻo iā ia.
2. Chorionic Villus Sampling (CVS): He kaʻina hana e pili ana i ka lawe ʻana i kekahi mau pūnaewele mai ka placenta o ke pēpē a hoʻāʻo iā lākou.
Ma muli o ka komo ʻana o kēia mau hoʻāʻo ʻelua ( invasive ), aia kahi pilikia liʻiliʻi. No laila, kānalua paha kekahi mau makuahine e hana ʻia.
Eia kekahi, hiki i ka NIPT ke hoʻoholo i ke kāne o ke pēpē. Inā ʻaʻole ʻoe makemake e ʻike, mai poina e haʻi i kāu kauka ma mua o ka hoʻāʻo.
ʻO wai ka makemake e hana i ka hoʻāʻo NIPT?
Hiki ke hana i kēia hoʻāʻo e kekahi makuahine i hoʻopau i 10 mau pule o ka hāpai ʻana. Eia naʻe, ʻaʻole ia he hoʻāʻo koi ʻia. Eia nō naʻe, ʻoi aku ka hoihoi o nā makuahine i loaʻa i ka pilikia kiʻekiʻe no kekahi mau kūlana genetic i kēia.
ʻO wai ka mea i ʻoi aku ka nui o ka pilikia?
- Nā makuahine ma luna o 35 mau makahiki.
- ʻO nā makuahine i hānau mua i kahi keiki me ke kūlana trisomy.
- ʻO nā makuahine i hōʻike ʻia ua pilikia lākou e kekahi hoʻokolohua nānā ʻē aʻe (e like me ka nānā ʻana i ka trimester mua).
Nā kūlana kahi i hiki ʻole ai ke hilinaʻi nui ʻia nā hopena NIPT
Hilinaʻi ka hoʻāʻo NIPT i ka nui o ka DNA pēpē i loko o ke koko o ka makuahine. ʻO kēia nui he pakeneka liʻiliʻi maʻamau, ma kahi o 10%-20%. No laila, hiki i kekahi mau kūlana i loko o ke kino o ka makuahine ke hoʻopilikia i kēia mau hopena.
- Inā ʻo kou helu nui o ke kino (BMI) he 30 a ʻoi aku paha.
- Inā ua hāpai ʻia ke keiki me kahi hua manu i hāʻawi ʻia.
- Inā ʻoe e hoʻohana ana i kekahi mau lāʻau hoʻokahe koko.
- Inā ʻoe e hāpai ana i nā māhoe a ʻoi aku paha mau keiki i loko o ka ʻōpū.
I kēia hihia, ʻoi aku ka maikaʻi o ke kamaʻilio ʻana me kāu kauka a hoʻoholo inā kūpono ka hoʻāʻo NIPT iā ʻoe.
He aha kāu e hana ai ma hope o ka loaʻa ʻana o nā hopena NIPT?
He mea maʻamau ke kaumaha a me ka haʻalulu ke ʻike ʻoe he pilikia kou (hopena maikaʻi) mai kahi hoʻāʻo NIPT. Akā, mai hopohopo. ʻO ka mea mua, e hoʻomanaʻo ʻaʻole kēia he hoʻoholo hope loa. I kēia manawa, he mea nui loa ke kamaʻilio me kahi kākā'ōlelo genetic a i ʻole kāu kauka e hoʻomaopopo i nā hopena.
He hoʻāʻo hōʻike pilikia wale nō ʻo NIPT. Mai hana i kekahi mau hoʻoholo koʻikoʻi e pili ana i kāu keiki ma muli wale nō o kēlā hopena.
Inā makemake ʻoe, hiki iā ʻoe ke hele no kahi hoʻokolohua diagnostic e like me ka 'amniocentesis' i ʻōlelo ʻia ma mua a i ʻole 'CVS' e hōʻoia i ke kūlana 100%. A i ʻole he kuleana kou e hōʻole i kēlā mau hoʻokolohua. E kamaʻilio ākea me kāu kauka e pili ana i kēia mau mea āpau.
Leka Lawe-Home
- ʻO ka NIPT kahi hoʻokolohua i hana ʻia me ka hoʻohana ʻana i kahi hāpana koko maʻalahi i lawe ʻia mai ka makuahine hāpai a ʻaʻohe pilikia iā ʻoe a i kāu pēpē paha.
- ʻAʻole kēia he hōʻailona paʻa 100%. He hoʻāʻo nānā wale nō ia e hōʻike ana i ka pilikia no nā kūlana e like me Down syndrome.
- Inā maikaʻi ka hopena NIPT, pono e hana ʻia kahi hoʻokolohua ʻē aʻe, e like me ka amniocentesis, e hōʻoia iā ia.
- E kūkākūkā mau i nā hopena NIPT a me nā hana aʻe me kāu kauka, ma mua o ka hoʻoholo ʻana i kāu iho.
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