Ke hopohopo iki nei ʻoe e pili ana i nā ʻano genes o kāu pēpē? E kamaʻilio kākou e pili ana iā Trisomy!

Ua lohe paha ʻoe i ka huaʻōlelo "Trisomy" a ua ʻōlelo paha kāu kauka iā ia. He mea maʻamau ka manaʻo makaʻu iki a me ka hoihoi ke lohe ʻoe i kēia. He aha ka trisomy? No ke aha e hana ʻia ai? Pehea e pili ai i ka pēpē? E kamaʻilio kākou e pili ana i nā mea a pau ma ke ʻano maʻalahi e hiki ai iā ʻoe ke hoʻomaopopo.

He aha ka Trisomy? Ma nā huaʻōlelo maʻalahi...

E noʻonoʻo ua hana ʻia ko kākou kino me nā miliona o nā keena liʻiliʻi. I loko o kēlā me kēia keena, aia kahi e like me ke kikowaena hoʻomalu o kēlā keena, a mākou e kapa nei he nucleus . I loko o kēlā nucleus aia nā mea i kapa ʻia ʻo 'Chromosomes' . Ua like kēia me nā puke. ʻO nā mea āpau e pili ana i ko kākou kino, kēlā me kēia ʻano e hoʻokaʻawale ai iā kākou mai nā poʻe ʻē aʻe (e like me ke kiʻekiʻe, ke kala, ke kala o ka lauoho, ke kala o nā maka) ua kākau ʻia i loko o kēia mau puke i kapa ʻia he chromosomes. ʻO kēia ʻike ka mea a mākou e kapa nei he 'DNA' .

ʻO ka maʻamau, loaʻa i kēlā me kēia cell i loko o ke kanaka olakino he 23 mau pālua o kēia mau chromosomes. ʻO ia ka huina o 46 chromosomes. ʻO ka hapalua o kēia mau mea, 23, mai ko mākou makuahine mai, a ʻo ka hapalua ʻē aʻe, 23, mai ko mākou makuakāne mai.

Eia ke ʻano o ka trisomy : I kekahi manawa, ma waho aʻe o kekahi o kēlā mau hui chromosome, hoʻohui ʻia kahi chromosome keu. A laila lilo ka huina o nā chromosome i 47 ma kahi o 46. ʻO "Tri" ke ʻano o ʻekolu, a ʻo "somy" ke ʻano o kahi mea e like me ke kino. No laila, ʻo ka trisomy wale nō ka loaʻa ʻana o ʻekolu chromosome kahi e pono ai ʻelua.

ʻOiai hiki ke hānau piha ʻia kahi pēpē me kēia chromosome keu, hiki i kekahi manawa ke kumu i ka hāʻule ʻana o ka ʻōpū i nā mahina ʻekolu mua o ka hāpai ʻana.

He aha nā ʻano nui o ka trisomy?

Hoʻoponopono nā kauka i kēia kūlana trisomy ma muli o ka hui chromosome i loko o ka chromosome keu. No ka mea, he kuleana kūikawā ko kēlā me kēia hui chromosome i loko o ko mākou kino, e ʻokoʻa ke kūlana genetic o ka pēpē ma muli o kahi i hoʻohui ʻia ai ka chromosome keu.

ʻO nā kūlana trisomy maʻamau:

• ʻO Trisomy 21 : ʻO kēia ke kūlana a mākou e ʻike nei he Down syndrome . Aia kekahi chromosome keu ma ka hui chromosome 21.
• ʻO Trisomy 18 : Ua kapa ʻia kēia ʻo Edward syndrome .
• ʻO Trisomy 13 : Ua kapa ʻia kēia ʻo Patau syndrome .

Pēlā nō, ʻo ka pālua 23 o nā chromosomes i loko o ko kākou ʻano genetic e hoʻoholo i ko kākou wahine. Ua kapa ʻia kēia mau mea he 'XX' no ka wahine a he 'XY' no ke kāne. Ke māhele ʻia nā pūnaewele, hiki ke loaʻa nā ʻano ʻē i loko o kēia mau chromosomes wahine, e hopena ana i nā trisomies. ʻO nā hiʻohiʻona o kēia mau mea:

• ʻO Trisomy X (`Trisomy X` a i ʻole `XXX`)
• ʻO ka maʻi Klinefelter (ʻO ka maʻi Klinefelter a i ʻole XXY)
• ʻO ka maʻi o Iakoba (ʻo ka maʻi o Iakoba a i ʻole XYY)

ʻO wai ka mea e pilikia nui ʻia e kēia kūlana trisomy?

ʻO kaʻoiaʻiʻo, hiki ke loaʻa ka trisomy i kēlā me kēia pae o ka hāpai ʻana. Eia nō naʻe, ua ʻike ʻia he kiʻekiʻe iki ka pilikia ke hāpai nā wahine ma luna o 35 mau makahiki . Eia nō naʻe, he mea kupanaha, ʻo ka hapa nui o nā pēpē i hānau ʻia me ka trisomy ua hānau ʻia i nā mākua ma lalo o 35 mau makahiki. ʻO kēia no ka mea, ma ka ʻōlelo helu, ʻoi aku ka nui o nā pēpē i hānau ʻia i nā poʻe ma lalo o 35 mau makahiki.

ʻO ka mea nui loa: ʻAʻole ʻo Trisomy kahi mea i hana ʻia ma muli o ka hewa o ka makuahine a i ʻole ka makuakāne. He loli genetic ia e hana wale ʻia.

Pehea ka maʻamau o ka trisomy?

ʻO ke ʻano maʻamau o ka trisomy ʻo ia ka trisomy 21, a i ʻole Down syndrome. No ka laʻana, ma ʻAmelika Hui Pū ʻIa wale nō, ma kahi o 6,000 mau pēpē i hānau ʻia me Down syndrome i kēlā me kēia makahiki. ʻO ia hoʻi ma kahi o hoʻokahi i loko o kēlā me kēia 700 mau pēpē.

He aha nā hōʻailona o ka trisomy i ka wā hāpai?

I ka wā o kāu scan ultrasound hāpai ʻana, e nānā kāu kauka i nā hōʻailona o ka trisomy. ʻO kekahi o nā hōʻailona:

• He liʻiliʻi loa ka nui o ka wai a puni ka pēpē (wai amniotic).
• Hoʻokahi wale nō aʻa koko o ke kaula piko o ke pēpē ma kahi o ka helu maʻamau o nā aʻa koko.
• ʻOi aku ka liʻiliʻi o ka placenta ma mua o ka maʻamau.
• Me he mea lā ua emi iki ka neʻe ʻana o ka pēpē (ʻoniʻoni).
• Ke nānā aku nei ke pēpē he ʻuʻuku kona ma mua o kona mau makahiki maoli.
• ʻO kekahi mau ʻano kino ʻole, no ka laʻana, kekahi mau pilikia puʻuwai a i ʻole kahi palale māwae.

He aha nā hōʻailona ma hope o ka hānau ʻana o ke pēpē?

ʻOkoʻa paha nā hōʻailona e ʻike ai kahi pēpē ma muli o ke ʻano o ka trisomy. ʻO kekahi mau hōʻailona maʻamau:

• ʻOi aku ka pōkole ma mua o ke ʻano maʻamau (ke kino pōkole).
• He helehelena poepoe a he helehelena pālahalaha.
• He nānā ʻālohilohi ma nā maka.
• Lepe māwae.
• Ka hana ʻino ʻana o nā ʻōpū o loko (e like me ka puʻuwai, nā māmā, nā puʻupaʻa) a i ʻole nā ​​pilikia me kā lākou hana.
• Nā lohi o ka ulu ʻana a me nā kīnā noʻonoʻo.

No ke aha i hana ʻia ai kēia trisomy? He wehewehe ʻepekema loa...

Hana ʻia nā chromosomes i loko o ko kākou kino ma ke ʻano kikoʻī loa. Ua like kēia kaʻina o nā cell me ka "blueprint" o ko kākou ʻano. Ke hana ʻia nā cell o nā ʻōpū hānau (sperm i nā kāne, hua manu i nā wahine), hoʻomaka lākou me hoʻokahi cell i hoʻoulu ʻia. A laila, hana kēia cell i kahi kaʻina hana i kapa ʻia ʻo meiosis . ʻO kēia kahi e māhele ʻelua ai kekahi cell, e hana ana i ʻehā mau cell. Loaʻa i kēlā me kēia cell hou ka hapalua o ka nui o ka DNA i loko o ke cell mua, a i ʻole 23 chromosomes.

ʻO kēia ke kaʻina hana o ka mahele ʻana o nā cell (meiosis)., I kekahi manawa hiki i nā pūnaewele ke māhele hewa. Ke hana ʻia kēlā, hele mai kahi kope keu o kahi pūnaewele a hui pū me kahi pālua o nā chromosomes. ʻO ka maʻamau, pono e loaʻa ʻelua mau chromosomes i kēlā me kēia pālua. Akā ma ʻaneʻi, hana ʻia kahi chromosome ʻekolu a hui pū me kēlā pālua. Ua kapa ʻia kēlā he trisomy.

Hiki mai ka Trisomy i ka manawa o ka hoʻoulu ʻana . He hanana ulia kēia, ʻaʻole i hana ʻia e kekahi mea a ka makuahine i hana ai i ka wā hāpai. Eia nō naʻe, e like me ka mea i ʻōlelo ʻia ma mua, ʻoi aku ka kiʻekiʻe o ka pilikia no ka poʻe e hāpai ma hope o 35 mau makahiki.

Pehea e ʻike ʻia ai ka trisomy?

Hiki i ka hoʻāʻo ʻana i ka genetic i ka wā hāpai ke hāʻawi i nā hōʻailona e pili ana i ke alo o ka trisomy. Ma hope o ka hānau ʻana o ka pēpē, ua hōʻoia ʻia ke kūlana e kahi hoʻokolokolo kino a me kahi hoʻāʻo chromosome genetic ʻē aʻe e hoʻohana ana i kahi hāpana koko mai ka pēpē.

He aha nā hoʻokolohua i hoʻohana ʻia e ʻike ai i ka trisomy?

I ka wā hāpai, e kauoha paha kāu kauka i kahi hāpana koko mai kou makuahine a me kahi scan. E like me ka mea i ʻōlelo ʻia ma mua, e nānā ka scan i nā mea e like me ke kahe nui a puni ka pēpē, kahi nuchal lucency , a me ka lōʻihi o nā lālā o ka pēpē. He mau hōʻailona paha kēia o kahi maʻi genetic.

Ma hope o kēia mau hoʻokolohua maʻamau, aia nā hoʻokolohua kikoʻī hou aʻe e hōʻoia i ke kūlana:

• ʻO ka laʻana villus Chorionic (CVS): Ma waena o 10 a me 13 mau pule o ka hāpai ʻana, lawe ʻia kahi hāpana liʻiliʻi o nā pūnaewele mai ka placenta e hoʻāʻo ai no nā kūlana genetic a me ke kāne o ke pēpē.
• Amniocentesis: Ma waena o 15 a me 20 mau pule o ka hāpai ʻana, lawe ʻia kahi hāpana liʻiliʻi o ka wai amniotic e hoʻopuni ana i ka pēpē e nānā i nā pilikia olakino.
• Ka lawe ʻana i kahi laʻana koko umbilical percutaneous (PUBS): Lawe ʻia kahi laʻana koko liʻiliʻi mai ke kaula umbilical o ka pēpē e nānā i ke olakino o ka pēpē.
• ʻO ka hoʻāʻo prenatal non-invasive (NIPT): Ma hope o 10 mau pule o ka hāpai ʻana, hoʻāʻo ʻia kahi hāpana koko mai ka makuahine e loiloi inā he mau maʻi genetic ka pēpē.

Pehea e mālama ʻia ai nā kūlana trisomy?

He maʻi ola ka Trisomy. No laila, pono ka lāʻau lapaʻau lōʻihi e hōʻoluʻolu i nā hōʻailona e pili ana i kēia maʻi. ʻO nā lāʻau lapaʻau no nā keiki i hānau ʻia me ka trisomy:

• ʻO ke ʻoki kino e hoʻoponopono ai i nā ʻano kino ʻē.
• Ke hāʻawi nei i ke kākoʻo hoʻonaʻauao .
• ʻŌlelo, hoʻoponopono ʻano a me ka hoʻōla kino .
• Nā lāʻau lapaʻau e kāohi i nā hōʻailona o nā pilikia olakino ʻē aʻe e ulu aʻe i ka hala ʻana o ka manawa.

Aia kekahi ala e hōʻemi ai i ka pilikia o ka trisomy?

ʻO kaʻoiaʻiʻo, ʻaʻole hiki ke pale ʻia nā kūlana genetic e like me ka trisomy. Ma muli o ka loaʻa ʻana o ka hemahema chromosomal i ka wā o ka mahele ʻana o ke kelepona, hiki iā ʻoe ke hōʻemi i kou pilikia o ka loaʻa ʻana o kahi keiki me kahi kūlana genetic ma ka hana ʻana i kēia mau mea:

• Ke hoʻomaopopo nei i nā pilikia o ka hāpai ʻana inā ʻoe ma luna o 35.
• Nā loiloi genetic ma mua o ka hāpai ʻana.
• Ke pale nei i ka hoʻohana ʻana i nā huahana paka a me ka waiʻona.
• E mālama i kou olakino ma ka ʻai ʻana i ka meaʻai kaulike a me ka hoʻoikaika kino mau.

Pehea e pili ai kēia trisomy i kaʻu pēpē?

Ma muli o ka hoʻololi ʻana o ka chromosome keu i ka "blueprint" o ka pēpē, hiki iā ia ke hana i nā kīnā hānau ( e like me nā hiʻohiʻona helehelena ʻokoʻa) a me nā kīnā noʻonoʻo. Nui nā keiki i hānau ʻia me ka trisomy 12 e loaʻa i nā pilikia olakino ʻē aʻe (e like me nā maʻi pepeiao pinepine, nā maʻi puʻuwai, a me ka apnea hiamoe) ma hope o ka ʻike ʻia ʻana o ke ʻano. Eia nō naʻe, me ka mālama kūpono, hiki i kāu keiki ke ola i kahi ola hauʻoli a hoʻokō .

Eia nō naʻe, ʻoi aku ka haʻahaʻa o ka manawa e ola ai nā pēpē i hānau ʻia me nā kūlana e like me Trisomy 18 a i ʻole Trisomy 13 ma mua o nā pule mua o ke ola (ka wā neonatal) ma muli o ke koʻikoʻi o ke kūlana (ʻoi aku ka lohi a i ʻole nā ​​​​​​mea ʻē aʻe i ka ulu ʻana o nā ʻōpū). E loiloi kāu kauka i ke olakino o kāu pēpē a hāʻawi i ka lāʻau lapaʻau e hoʻonui i nā manawa e ola ai no nā pēpē i hānau ʻia me kēia mau kūlana.

Āhea wau e ʻike ai i ke kauka?

ʻO kahi hopena ʻaoʻao o ka trisomy ka pilikia o ka hāʻule ʻana o ka pēpē . Hana pinepine kēia i nā mahina ʻekolu mua o ka hāpai ʻana. Inā loaʻa iā ʻoe kekahi o nā hōʻailona o ka hāʻule ʻana o ka pēpē (i helu ʻia ma lalo nei), e ʻike koke i kāu kauka:

• ʻEha ka ʻōpū lalo, ʻūlū.
• ʻEha hope haʻahaʻa.
• ʻEha ʻōpū.
• Ke kahe koko iki a nui paha.
• Ke anu nei a me ke kuni.

He aha nā nīnau koʻikoʻi e nīnau aku ai i ke kauka?

Inā he mau nīnau hou aku kāu e pili ana i kēia, mai makaʻu e nīnau i kāu kauka. Eia kekahi mau nīnau hiki iā ʻoe ke nīnau:

• Pehea e hiki ai iaʻu ke hōʻemi i ka pilikia o ka loaʻa ʻana o kahi keiki me kahi maʻi genetic e like me ka trisomy?
• He aha nā hoʻokolohua prenatal āu e ʻōlelo ai e hōʻoia inā he maʻi genetic ko kaʻu pēpē?
• Hiki iaʻu ke hāpai maikaʻi ma hope o ka loaʻa ʻana o ka trisomy?

He aha ka ʻokoʻa ma waena o ka Trisomy a me ka Monosomy?

He mau kūlana hoʻoilina kēia mau mea ʻelua.

• ʻO Trisomy ka loaʻa ʻana o kahi kope keu o kahi chromosome.
• ʻO ka monosomy ka nele o hoʻokahi kope o kahi chromosome (ʻo ia hoʻi, ka nalowale ʻana o hoʻokahi chromosome).

Loaʻa kēia mau kūlana genetic ʻelua ma muli o kahi hoʻololi genetic e kū nei i ka wā o ka mahele ʻana o ke kelepona. ʻAʻole hiki ke pale ʻia kēia ʻano ʻē mai ka hanana ʻana i ka wā o ka mahele ʻana o ke kelepona.

Nā mea e hoʻomanaʻo ai mai nā mea a mākou i kūkākūkā ai (Leka Lawe-Home)

ʻOiai ʻaʻohe ala e pale aku ai i nā ʻano maʻi genetic e like me ka trisomy, inā ʻoe e hoʻolālā nei e hāpai, e kamaʻilio me kāu kauka e pili ana i ka hoʻāʻo genetic e loiloi i kou pilikia o ka loaʻa ʻana o kahi keiki me kahi maʻi genetic.

Inā ua ʻike ʻia ʻoe me kahi maʻi trisomy i kou wā hāpai, mai hopohopo. Nui ke kākoʻo a me nā kumuwaiwai i loaʻa e kōkua iā ʻoe a me kāu pēpē e ola olakino a hoʻokō i nā ola. Hiki i ke aʻo ʻana i nā ʻano genetic ke kōkua iā ʻoe e hoʻomaopopo i ke kūlana o kāu pēpē a hāʻawi i ka mālama a me ke kākoʻo e pono ai lākou i ko lākou ulu ʻana. E hoʻomanaʻo, ʻaʻole ʻoe hoʻokahi.

ʻO Trisomy, chromosomes, genes, Down syndrome, hāpai keiki, hoʻāʻo genetic, Patau syndrome, Edward syndrome