ʻO Trisomy 21, i kapa ʻia hoʻi ʻo Down Syndrome, he maʻi i hoʻokumu ʻia e kahi ʻano ʻino i loko o nā chromosomes (nā hale cell i loaʻa nā mea genetic o ke kino). Loaʻa i ka poʻe me Down's syndrome ʻekolu chromosomes 21 ma mua o hoʻokahi pālua. ʻO kēia kaulike ʻole i ka hana ʻana o ka genome (nā ʻike hoʻoilina āpau i loaʻa i loko o nā pūnaewele kanaka) a me ke kino ke kumu o ka lohi mau a me ka lohi o ka ulu ʻana.

Hiki ke ʻokoʻa ka maʻi maʻi o Down. Ua ʻike nui ʻia ka maʻi maʻi a hiki i ka hana mua ke hoʻololi nui i ka maikaʻi o ke ola o nā keiki a me nā pākeke me ka maʻi. ʻO ka hapa nui o nā hihia, ʻaʻole i hoʻoili ʻia kēia maʻi, ʻo ia hoʻi, ʻaʻole i lawe ʻia mai nā mākua i kā lākou mau keiki.

Nā kumu

Loaʻa i kēlā me kēia cell kanaka he 46 chromosomes i hoʻonohonoho ʻia i 23 mau pai kahi i loaʻa ai nā genes. Ke hoʻomomona ʻia ka hua manu a me ka sperm, hoʻouna kēlā me kēia makua i nā chromosomes 23 i kā lākou keiki, ʻo ia hoʻi, ka hapalua o kā lākou genetic makeup. Hoʻokumu ʻia ka maʻi ʻo Down ma muli o ke kū ʻana o ke kolu o ka chromosome 21, i hana ʻia e kahi ʻano ʻino i ka wā o ka māhele cell.

ʻO Chromosome 21 ka mea liʻiliʻi loa o nā chromosomes: aia ma kahi o 300 genes. Ma 95% o nā hihia o Down's Syndrome, loaʻa kēia chromosome keu i loko o nā keʻena āpau o ke kino o ka poʻe i hoʻopilikia ʻia.

ʻO nā ʻano ʻano like ʻole o ka maʻi Down ma muli o nā mea ʻino ʻē aʻe i ka mahele cell. Ma kahi o 2% o ka poʻe me Down's Syndrome, loaʻa nā chromosomes keu i loko o kekahi o nā pūnaewele o ke kino. Kapa ʻia kēia ma ka mosaic trisomy 21. Ma kahi o 3% o ka poʻe me ka maʻi Down, ʻo kahi hapa wale nō o ka chromosome 21 ka nui. ʻO ka trisomy 21 kēia ma ka unuhi ʻana.

ʻO ke kuhikuhina

Ma Palani, ʻo ka trisomy 21 ke kumu nui o ka hemahema noʻonoʻo o ke kumu genetic. Aia ma kahi o 50 poʻe me Down's Syndrome. Hoʻopilikia kēia pathology i 000 i 21 a 1 hānau.

Wahi a ke Kuhina Ola o Quebec, pili ka maʻi o Down ma kahi o 21 i ka 1 hānau. Hiki i kēlā me kēia wahine ke hānau i ka pēpē me Down's Syndrome, akā e piʻi aʻe ka likelike me ka makahiki. I ka makahiki 770, he 21 i ka 20 ka pilikia o ka wahine e loaa ke keiki me Down's Syndrome. I ka makahiki 1, he 1500 ka pilikia i 30. E emi ana keia pilikia mai 1 i 1000 a i 1 makahiki a mai 100 i 40 a i 1 makahiki.

PalekanaEND_LINK

Hana ʻia ka hōʻailona o Down syndrome ma hope o ka hānau ʻana, ke ʻike ʻoe i nā hiʻohiʻona o ke pēpē. Eia naʻe, no ka hōʻoia ʻana i ka ʻike, pono ia e hana i kahi karyotype (= hoʻāʻo e hiki ai ke aʻo ʻana i nā chromosomes). Lawe ʻia kahi laʻana o ke koko o ke pēpē no ka nānā ʻana i nā chromosomes i loko o nā pūnaewele.

Nā hoʻokolohua prenatal

ʻElua ʻano o nā hoʻokolohua prenatal e hiki ke hōʻoia i ka trisomy 21 ma mua o ka hānau ʻana.

ka nā hoʻāʻo loiloi ka mea i manaʻo ʻia no nā wahine hāpai a pau, e noʻonoʻo inā he haʻahaʻa a kiʻekiʻe paha ka nui o ka loaʻa ʻana o ka trisomy 21 i ka pēpē. Aia kēia ho'āʻo ʻana i kahi laʻana koko a laila ka nānā ʻana i ka nuchal translucency, ʻo ia hoʻi ka mamao ma waena o ka ʻili o ka ʻāʻī a me ka iwi kuamoʻo o ka fetus. Hana ʻia kēia hoʻāʻo ma ka ultrasound ma waena o 11 a me 13 pule o ka hāpai ʻana. He palekana no ke keiki hānai.

ka hōʻike i nā hoʻokolohua maʻi ka mea i manaʻo ʻia no nā wahine i ka pilikia nui, e hōʻike inā loaʻa ka maʻi i ka pēpē. Hana ʻia kēia mau hoʻokolohua ma waena o 15^st a me 20^st pule o ka hapai. ʻO ka pololei o kēia mau ʻenehana no ka nānā ʻana no Down syndrome ma kahi o 98% a 99%. Loaʻa nā hopena hōʻike ma 2-3 pule. Ma mua o ka loaʻa ʻana o kekahi o kēia mau hoʻāʻo, ʻōlelo ʻia ka wahine hāpai a me kāna wahine e hui pū me kahi loea genetic e kūkākūkā ai i nā pilikia a me nā pōmaikaʻi e pili ana i kēia mau hana.

ʻO Amniocentesis

THEamniocentesis hiki ke hoʻoholo me ka maopopo inā he Down's syndrome ka pēpē. Hana ʻia kēia hoʻokolohua ma waena o ka lā 21^st a me 22^st pule o ka hapai. Lawe ʻia kahi laʻana o ka wai amniotic mai ka ʻōpū o ka wahine hāpai me ka hoʻohana ʻana i kahi nila lahilahi i hoʻokomo ʻia i loko o ka ʻōpū. Lawe ʻo Amniocentesis i kekahi mau pilikia o ka pilikia, hiki ke hele a hiki i ka nalo ʻana o ka pēpē (1 i loko o 200 wahine ka hopena). Hāʻawi mua ʻia ka hoʻāʻo i nā wahine i pilikia nui ma muli o nā hoʻokolohua screening.

ʻO ka laʻana chorionic villus.

ʻO ka laʻana (a i ʻole biopsy) o ka chorionic villi (PVC) e hiki ai ke hoʻoholo inā he chromosomal abnormality ka pēpē e like me ka trisomy 21. ʻO ke ʻano hana i ka wehe ʻana i nā ʻāpana o ka placenta i kapa ʻia ʻo chorionic villi. Lawe ʻia ka laʻana ma ka paia o ka ʻōpū a i ʻole ma waena o ka 11^st a me 13^st pule o ka hapai. Lawe kēia ʻano hana i kahi pilikia o ka hāʻule ʻana o 0,5 a 1%.

Nā hopena i ka ʻohana

ʻO ka hōʻea ʻana mai i ka ʻohana o kahi pēpē me Down's Syndrome ke koi ʻia kahi manawa hoʻoponopono. Pono kēia mau keiki i ka mālama kūikawā a me ka nānā nui. E hoʻokaʻawale i ka manawa e ʻike ai i kāu keiki a hana i wahi nona i loko o ka ʻohana. Loaʻa i kēlā me kēia keiki me Down's Syndrome ko lākou ʻano kūʻokoʻa ponoʻī a pono ke aloha a me ke kākoʻo e like me nā poʻe ʻē aʻe.