He mea maʻamau ka manaʻo nui i ka makaʻu a me ka hopohopo ke lohe ʻoe i kahi huaʻōlelo kamaʻāina ʻole e like me "Trisomy 18" i ke kamaʻilio ʻana me kāu kauka e pili ana i kāu pēpē i hānau ʻole ʻia. He aha ke ʻano o kēia kūlana, no ke aha e hana nei kēia, a ua hana hewa paha kekahi mea iaʻu? Mai hopohopo. I kēia lā, e hoʻomaopopo kākou i ke kūlana i kapa ʻia ʻo Trisomy 18 me ka maʻalahi loa, me he mea lā e kamaʻilio ana kākou me kahi hoaaloha.
He aha maoli ka Trisomy 18?
I ka ʻōlelo maʻalahi, ʻo ka trisomy 18 kahi maʻi i hoʻokumu ʻia e kahi pilikia me nā chromosomes e lawe ana i ka ʻike genetic i loko o ko mākou kino. ʻO kekahi inoa no kēia ʻo Edwards syndrome , no ka hoʻohanohano ʻana i ke kauka nāna i wehewehe mua i ke ʻano.
E noʻonoʻo i ko kākou kino e like me kahi hale nui. Aia ka palapala hoʻolālā no kēia hale i loko o nā mea e like me nā puke i kapa ʻia he chromosomes. ʻO nā genes i loko o kēia mau puke nā kuhikuhi no ke ʻano o ka ulu ʻana o kēlā me kēia ʻāpana o ko kākou kino, mai ke kala o ko kākou lauoho a hiki i ke ʻano o ka hana ʻana o ko kākou puʻuwai.
ʻO ka maʻamau, loaʻa i kahi keiki olakino he 23 mau chromosome mai ka makuahine a me 23 mai ka makuakāne. ʻO ka huina he 46. Hoʻonohonoho ʻia kēia mau mea ma nā pālua. ʻO ia hoʻi, aia ʻelua kope o ka chromosome 1, ʻelua kope o ka chromosome 2, a pēlā aku, a hiki i ka 23.
Eia nō naʻe, i ke ʻano o ka trisomy 18, ma kahi o nā kope ʻelua maʻamau o ka chromosome 18, aia kahi kope keu, ʻo ia hoʻi, ʻekolu kope, i loko o nā pūnaewele o ka pēpē. ʻO "Tri" ke ʻano o ʻekolu. ʻO ia ke kumu i kapa ʻia ai ʻo "trisomy 18." Hiki i kēia chromosome keu ke hana i nā ʻano ʻē like ʻole i ka ulu ʻana o nā ʻāpana he nui i loko o ke kino o ka pēpē.
Aia kekahi mau ʻano o ka trisomy 18?
ʻAe, ʻekolu mau ʻano nui:
1. Trisomy piha 18 : ʻO kēia ke ʻano maʻamau. Maanei, loaʻa i kēlā me kēia cell i loko o ke kino o ka pēpē kahi chromosome 18 keu.
2. ʻĀpana Trisomy 18: He mea kākaʻikahi loa kēia. Ma kahi o kahi chromosome keu piha, aia wale nō kahi hapa o ka chromosome 18 keu i loko o nā pūnaewele. Hiki ke hoʻopili ʻia kēia ʻāpana keu i kekahi chromosome ʻē aʻe (translocation).
3. Mosaic Trisomy 18: He ʻano maʻi laha ʻole kēia. Maanei, ʻo kekahi o nā pūnaewele i loko o ke kino o ka pēpē ka mea i loaʻa ka chromosome keu. He maʻamau nā pūnaewele ʻē aʻe. Me he mea lā ua hui pū ʻia nā pūnaewele like ʻole e like me nā tile mosaic.
Pehea ka maʻamau o kēia ʻano?
ʻO ka lua o ka maʻi chromosomal maʻamau ka trisomy 18. ʻO ka mua ka Down syndrome i ʻike nui ʻia, a i ʻole trisomy 21.
Wahi a nā helu helu, ma kahi o hoʻokahi i loko o 5,000 mau pēpē i hānau ʻia e loaʻa paha ka trisomy 18. ʻO kēia mau mea, ʻo ka mea i hōʻike pinepine ʻia he mau kaikamahine. Eia nō naʻe, ʻo ka ʻoiaʻiʻo, ua hoʻopilikia ʻia ka nui o nā fetuses e kēia maʻi. Eia naʻe, no ka mea he koʻikoʻi nā pilikia e pili ana i kēia maʻi, ʻo ka hapa nui o ka manawa ua nalowale kēlā mau pēpē i loko o ka ʻōpū i ka wā hāpai.
He aha nā hōʻailona o kahi keiki me ka trisomy 18?
He liʻiliʻi a nāwaliwali pinepine nā pēpē i hānau ʻia me ka trisomy 18. Hiki iā lākou ke loaʻa i kekahi mau pilikia olakino koʻikoʻi a me nā loli kino. Ua helu ʻia kekahi o kēia mau mea ma ka papa ma lalo nei.
| ʻĀpana kino | Nā hōʻailona i ʻike ʻia |
|---|---|
| Poʻo a me ka maka | He poʻo liʻiliʻi ma mua o ka maʻamau (microcephaly), he ʻauwae liʻiliʻi (micrognathia), nā pepeiao haʻahaʻa, a me kahi lehelehe māwae. |
| Nā lima a me nā wāwae | Nā lima ʻūmiʻi (nā manamana lima i pelu ʻia kekahi ma luna o kekahi), nā wāwae lalo. |
| Puʻuwai | Nā lua ma waena o nā keʻena o ka puʻuwai (atrial septal defect a i ʻole ventricular septal defect). |
| Nā kino ʻē aʻe | Nā kīnā o ka māmā, nā puʻupaʻa, a me ka ʻōpū/ʻōpū. |
| Kūlana maʻamau | Lohi loa ka ulu ʻana.(lohi ka ulu ʻana), nā pilikia hānai, nāwaliwali o ka uē ʻana, a me nā lohi nui o ka noʻonoʻo a me ka ulu ʻana. |
He aha ke kumu o kēia? ʻO wai ka mea i pilikia?
ʻO kēia ka nīnau a nā mākua he nui e nīnau nei. "He hewa anei kēia noʻu?"
E ʻoluʻolu e hoʻomaopopo ʻaʻole i hana ʻia ka trisomy 18 e kekahi hewa o ka makuahine a makua paha, a i ʻole e ka meaʻai, ka mea inu, a i ʻole ke ʻano. He hewa mahele chromosome ia e kū mai ana i ka wā e hana ʻia ai kahi hua manu a sperm paha. ʻAʻohe mea hiki iā mākou ke hana e pale aku ai.
Eia nō naʻe, piʻi iki ka pilikia o kēia mau kīnā chromosomal i ka wā e ʻelemakule ai ka makuahine (ʻoi aku hoʻi ma hope o 35 mau makahiki). Eia nō naʻe, hiki i kahi makuahine o kēlā me kēia makahiki ke loaʻa kahi keiki me ka trisomy 18.
Inā loaʻa iā ʻoe kahi keiki me ka trisomy 18, ʻo ka pilikia o ka loaʻa ʻana o ke kūlana i kāu hāpai ʻana aʻe ma waena o 0.5% a me 1%. Eia nō naʻe, inā loaʻa iā ʻoe a i ʻole kāu hoa ka loli genetic (translocation) e hoʻoulu ai i ka trisomy hapa 18, a mākou i kamaʻilio ai, ʻoi aku ka kiʻekiʻe o ka pilikia. He mea nui loa e kamaʻilio me kāu kauka e pili ana i kēia a, inā pono, e ʻike i kahi kākāʻōlelo genetic.
Hiki ke ʻike ʻia kēia i ka wā hāpai?
ʻAe, hiki nō ia. E lawe mua ke kauka i kahi hāpana koko mai ka makuahine ( hoʻāʻo nānā ). ʻOiai ʻaʻole hiki ke maopopo 100% kēia, hiki iā ia ke haʻi inā piʻi ka pilikia o ka pēpē i ka loaʻa ʻana o kahi kīnā chromosomal e like me ka trisomy 18.
Inā hōʻike kēia hoʻokolohua he pilikia, aia nā hoʻokolohua hou aʻe e hōʻoia i ke kūlana.
- Ka Laʻana ʻana o Chorionic Villus (CVS): Lawe ʻia kahi hāpana liʻiliʻi o ka placenta a hoʻāʻo ʻia i nā pule mua o ka hāpai ʻana (nā pule 10-13).
- Amniocentesis: Ma hope o 15 mau pule, lawe ʻia kahi hāpana o ka wai amniotic e hoʻopuni ana i ka pēpē a hoʻāʻo ʻia.
Hiki i kēia mau hoʻāʻo ʻelua ke helu pololei i nā chromosomes o ka pēpē a hōʻoia me ka maopopo inā he trisomy 18 ko lākou.
Eia kekahi, hiki i kahi scan ultrasound i hana ʻia ma hope o 12 mau pule ke hoʻāla i nā kānalua e pili ana i kēia kūlana ma ka nānā ʻana i nā mea e like me ka ulu ʻana o ka pēpē, ke ʻano o ka puʻuwai, a me ke kūlana o nā lālā.
Aia kekahi lāʻau lapaʻau? He aha ka wā e hiki mai ana o ke keiki?
He kumuhana koʻikoʻi loa kēia e kamaʻilio ai. ʻAʻohe lāʻau lapaʻau no ka trisomy 18 i kēia manawa . ʻO kēia no ka mea he loli genetic ia i loko o kēlā me kēia cell o ke kino o ke pēpē.
Eia nō naʻe, ʻo ka nele o ka mālama ʻana, ʻaʻole ia he manaʻo ʻaʻohe mea hiki ke hana ʻia no ke keiki. Hiki ke hāʻawi ʻia ka mālama kākoʻo e hōʻoia i ka ʻoluʻolu a me ke olakino o ke keiki.
- ʻO ke ʻoki kino no kekahi mau mea, e like me nā kīnā o ka puʻuwai.
- Ke hoʻolako ʻana i nā lāʻau lapaʻau e pono ai.
- Nā ʻōmole hānai inā pilikia i ka inu ʻana i ka waiū.
- Kākoʻo no nā pilikia hanu.
ʻO kekahi mau mākua, ma kahi o ka mālama ʻana i kā lākou keiki me ka ʻeha, koho lākou e hoʻomaha iā lākou no ka manawa pōkole, me ke aloha a me ke aloha. Ua kapa ʻia kēia he mālama hōʻoluʻolu . He pilikino loa kēia mau hoʻoholo. He mea nui e kamaʻilio ākea e pili ana i kēia mau koho āpau me kāu kauka.
ʻO ka mea pōʻino, ma muli o nā pilikia olakino koʻikoʻi e hele mai me kēia maʻi, he pōkole loa ke ola o nā keiki he nui. Ma kahi o ka hapalua o nā pēpē i hānau ʻia e make i loko o ka pule mua. ʻAʻole i hiki i ka 10% ke ola e hoʻolauleʻa ai i ko lākou lā hānau mua. ʻOiai nā pēpē e ola nei e pono ai ka mālama olakino mau.
Hiki i ka mālama ʻana i kahi keiki e like me kēia ke hoʻoluhi i ka noʻonoʻo a me ke kino no nā mākua, no laila he mea nui e loaʻa ke kākoʻo nou iho a me kou ʻohana ma kēia huakaʻi.
Leka Lawe-Home
- ʻO Trisomy 18 kahi maʻi genetic i hoʻokumu ʻia ma ka loaʻa ʻana o kahi kope keu o ka chromosome helu 18.
- ʻAʻole kēia ma muli o kekahi hewa o nā mākua. He kīnā hoʻoilina ia.
- Hiki ke ʻike ʻia kēia kūlana ma o nā scan a me nā hoʻokolohua koko kūikawā i ka wā hāpai.
- ʻOiai ʻaʻohe lāʻau lapaʻau kūikawā no kēia ʻano, aia nā ʻano mālama kākoʻo e hiki ke hāʻawi i ka hōʻoluʻolu i ke keiki.
- He mea nui loa i nā mākua e kū nei i kēia kūlana e ʻimi i ke kākoʻo noʻonoʻo mai nā kauka, nā kākā'ōlelo, a me nā lālā ʻē aʻe o ka ʻohana. E kamaʻilio ākea me kāu kauka e pili ana i kekahi mea.
💬 Comments (0)
ʻAʻohe manaʻo i kau ʻia. Hoʻohui i kāu manaʻo ma ʻaneʻi no ka manawa mua.
Hoʻohui i kāu manaʻo