ʻIke mua o trisomy 21: i kahi koho ʻē aʻe i nā hoʻokolohua o kēia manawa

ʻIke mua o trisomy 21: i kahi koho ʻē aʻe i nā hoʻokolohua o kēia manawa

Na Malcolm Ritter

 

 

 

June 17, 2011

NEW YORK - E hauʻoli nā wahine o ka wā hānau keiki i ka nūhou: Ke hana nei nā ʻoihana ʻAmelika e hoʻomohala i kahi hoʻokolohua koko no Down's syndrome ʻoi aku ka pololei ma mua o nā mea i loaʻa i kēia manawa i ka wā hiki. Hiki i kēia hoʻāʻo ke hoʻopakele i nā wahine he nui mai ka loaʻa ʻana o kahi amniocentesis.

Hoʻomaopopo ka hoʻāʻo e hiki ke loaʻa iā DNA fetal i ke koko makuahine, i ka ʻeiwa mau pule o ka hāpai ʻana, ma mua o ka maopopo o ka poʻe a puni iā ​​ia. A hiki i kēlā manawa, amniocentesis, kahi hoʻāʻo e pili ana i ka lawe ʻana i ka wai amniotic ma o ka hoʻokomo ʻana i kahi syringe i loko o ka ʻōpū o ka makuahine, hiki ke hana ʻia i ʻehā mau mahina o ka hāpai ʻana, a ʻoi aku paha.

ʻO Down Syndrome kahi maʻi maʻi e hōʻohi i ka ulu ʻana o ka noʻonoʻo a me ke kino. ʻO ka poʻe e ʻehaʻeha iā ia, ua pālahalaha ʻia ko lākou alo, nā ʻāʻī pōkole, a me nā lima a me nā wāwae liʻiliʻi. He pilikia nui ko lākou i nā pilikia, ʻoiai ʻo ka puʻuwai a i ʻole ka lohe. ʻO ko lākou kali ʻana i ke ola ma kahi o 21 mau makahiki.

I ka hapanui o nā hihia, ʻike ʻia ka trisomy 21 ma hope o ka hānau ʻana, akā inā ʻike ʻia kēia hōʻike koko hou, hiki i ka wā ma mua. ʻOiai inā hiki i kahi hōʻailona antenatal ke hōʻike i kahi pilikia paʻakikī no nā kāne e pono e hoʻoholo inā hōʻoki paha lākou. Ma muli o ka maka o nā mākua o nā keiki me Down's syndrome i nā pilikia ma ke kahua o ka hoʻonaʻauao a me ka mālama ʻana o kēia keiki i lilo i makua, he wā paʻakikī no nā mākua ʻelemakule, wahi a ke kauka. ʻO Mary Norton, ka polofesa o ka hānau hānau a me ka wahine ma ke Kulanui ʻo Stanford.

Ma kāna ʻāpana, ua manaʻo ʻo Kauka Brian Skotko, ka loea ma Down's Syndrome ma ka Halemai ʻo Pediatric ʻo Boston, "ʻo ka hapa nui o nā keiki me Down Syndrome a me ko lākou mau ʻohana e ʻōlelo nei he waiwai nui kēia mau ola." ʻO ia ka mea kākau o kahi ʻepekema ʻepekema no ka hoʻohana ʻana o nā kauka a pili i ka hoʻolaha ʻana o ka hōʻailona o trisomy.

I ka wā mua, ua manaʻo nā kauka e mālama i kēia hoʻokolohua no nā wahine i ka makaʻu, keu hoʻi i nā makahiki 35. ʻO ka hope loa, hiki iā ia ke pani i nā hoʻokolohua maʻamau i hāʻawi ʻia i kekahi wahine hāpai. Ma muli o ka hāʻawi ʻana i nā mea hoʻohoka wahaheʻe ma mua o nā hoʻāʻo o kēia manawa, e hāʻawi ʻia nā wahine liʻiliʻi i nā amniocentesis pono ʻole, e ʻōlelo nā loea. A ʻoiai ʻaʻole ka makaʻu o ka hāʻule ʻole, e kono ʻia ka nui o nā wahine e waiho iā ia. ʻO ka hopena, hiki ke hoʻonui i ka nui o nā wahine ʻike he hāpai lākou me kahi keiki me Down Syndrome.

Lana nā hui Kaleponi ʻelua, Sequenom a me Verinata Health, e hāʻawi i ka hōʻike i nā kauka ʻAmelika ma ʻApelila e hiki mai ana. Kuhi kēia mau ʻoihana i ko lākou hoʻokuʻu ʻia i ka hapaha mua o 2012, ka Sequemon e hoʻomaʻamaʻa ʻia mai 10 mau pule o ka hāpai ʻana, ʻo Verinata, mai ʻewalu pule. E loaʻa nā hopena i ʻehiku a i ʻumi mau lā ma hope. No kāna ʻāpana, ua hōʻike ʻo LifeCodexx AG, he hui Kelemania e makemake e hana i kāna mau hoʻāʻo i ka mākeke ʻEulopa mai ka hopena o 2011, nā hoʻokolohua i hiki ke hoʻokō ʻia ma waena o ka 12e a me 14e pule. ʻAʻole kekahi o kēia mau ʻoihana i ʻōlelo i nā kumukūʻai.

Ma muli o ka hōʻike ʻana o ka hōʻike i kahi pane i ka wā mua loa, ma mua o ka ʻike ʻia ʻana o ka hāpai ʻana a i ʻole manaʻo ka makuahine e neʻe kāna pēpē, ʻae paha ia no ka hoʻopau manawaleʻa ʻana o ka hāpai keiki ma mua o ka hopena o ka trimester mua. "ʻAʻole pono kekahi e ʻike he hāpai ʻoe," i hoʻohui ʻia ʻo Brian Skotko. ʻAʻole paha ʻoe i haʻi aku i kāu kāne ”.

Ua hānau ʻo Nancy McCrea Iannone o New Jersey kahi kaikamahine pēpē me Down Syndrome ʻeono makahiki i hala. "Ua makemake wau i kahi hoʻokolohua non-invasive i ka pilikia o ka loaʻa ʻole o kahi amniocentesis," i ʻōlelo ʻo ia. ʻOiai ʻo kona makaʻu i ka hāʻule ʻole a me kahi "nila i loko o kāna ʻōpū", ua ʻae ʻo ia e hana i kēia hoʻokolokolo. Kūkākūkā ʻo ia i kēia manawa i nā makuahine o ka wā e hiki mai ana me Down's Syndrome a koi i ka pono e ʻike i ka hōʻailona ma mua o ka hānau ʻana i mea e hoʻomākaukau ai no ia.

 

Nā Nūhou mai © The Canadian Press, 2011.

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