ʻO ka kānana prenatal non-invasive kahi hōʻike genetika e hiki ai ke haki i ka trisomy 21 i loko o ka fetus. He aha kēia hōʻike? I nā hihia hea e hōʻike ʻia ai no nā wahine hāpai? Hilinaʻi ʻo ia? ʻO nā mea āpau āu e ʻike ai e pili ana i ka DPNI.

ʻO ka DPNI, i kapa ʻia hoʻi ʻo LC T21 DNA hōʻike, kahi hōʻike kūʻauhau i hāʻawi ʻia i nā wahine hāpai i ka hoʻolālā kānana no trisomy 21. He hōʻike koko ia i lawe ʻia mai ka hebedoma 11 o amenorrhea (AS) a ʻae ʻia ka nui a me ka hoʻopili ʻana o ka fetal Ke holo nei ʻo DNA i ke koko makuahine. Ua hiki i kēia hoʻokolokolo ʻana ke hana ʻia e ka ʻenehana hōʻeuʻeu kiʻekiʻe kiʻekiʻe DNA hoʻokomo ʻenehana NGS (Sequencing aʻe o nā hanauna aʻe). Inā hōʻike ka hopena i ka loaʻa ʻana o ka DNA mai ka chromosome 21 i nā nui he nui, ʻo ia hoʻi he nui ka likelika o ka fetus i ka lawe ʻana i Down Syndrome. 

He 390 € ke kumukūʻai. Uhi ʻia ʻo 100% e ka ʻInikua Ola. 

I Palani, hoʻokumu ʻia ka kānana ʻana no Down's syndrome ma nā mea he nui.

Ka ana o ka translucency nuchal o ka fetus 

ʻO ka hana mua i ka kānana ʻana ke ana i ka translucency nuchal o ka fetus i ka wā o ke ultrasound mua (hana ʻia ma waena o ka 11th a me ka 13th WA). ʻO kahi ākea ma ke kiʻekiʻe o ka ʻāʻī o ka fetus. Inā nui loa kēia hakahaka, he hōʻailona paha ia o kahi kino chromosomal. 

Ka hoʻāʻo o nā māka serum

I ka pau ʻana o ka ultrasound mua, hōʻike pū ke kauka e hana ka mea maʻi i ke ana o nā māka serum ma o ka hoʻāʻo ʻana o ke koko. ʻO nā māka Serum nā mea i hūnā ʻia e ka placenta a i ʻole ka fetus a loaʻa i ke koko makuahine. ʻO kahi pae kiʻekiʻe a i lalo paha ma mua o ka awelika o nā māka serum e hāpai i ka kānalua no Down's Syndrome.

ʻO ka makahiki o ka makuahine e lilo

Lawe ʻia ka makahiki o ka makuahine e lilo i helu no ka trisomy 21 (hoʻonui ka makaʻi me ka makahiki). 

Ma hope o ke aʻo ʻana i kēia mau mea ʻekolu, ua loiloi ka ʻoihana olakino e ukali nei i ka wahine hāpai i ka pilikia o ka fetus i lawe i Down's Syndrome ma o ke kamaʻilio ʻana i kahi kiʻi iā ia. 

I ka hihia hea e hāʻawi ʻia ai ka DPNI?

Inā aia ka pilikia ma waena o 1/1000 a me 1/51, hāʻawi ʻia ka mea maʻi iā DPNI. Hōʻike ʻia pū kekahi:

• i nā mea maʻi ma mua o 38 mau makahiki i hiki ʻole ke pōmaikaʻi mai ka hoʻāʻo ʻana o nā māka serum makuahine.
• i nā mea maʻi me ka moʻolelo o Down's syndrome mai kahi hāpai mua.
• i nā kāne ma kahi o kahi o nā mākua ʻelua e hiki mai ana kahi Robloconian translocation (kahi karyotype abnormalities i hiki ke alakaʻi i ka trisomy 21 i nā keiki). 

Ma mua o ka hoʻokō ʻana i ka hoʻokolokolo, pono i ka wahine hāpai e hoʻouna i kahi hōʻike o ka 1st trimester ultrasound e hōʻike nei i ka maʻamau o ka translucency nuchal a me kahi palapala o ke kūkākūkā olakino a me ka ʻae hoʻomaopopo ʻia (ʻaʻole koi ʻia kēia kānana e like me nā ana o nā marker serum). 

Ua hoʻihoʻi ʻia ka hopena hōʻike ma loko o 8 a 10 mau lā i ka prescriber (palekeiki, gynecologist, kauka maʻamau). ʻO ia wale nō ka mea i ʻae ʻia e lawe i ka hopena i ka mea maʻi. 

I ka hanana o kahi hopena i kapa ʻia "maikaʻi"

ʻO kahi hopena i kapa ʻia he “maikaʻi” ʻo ia hoʻi ke kū ʻana o Down's Syndrome. Eia naʻe, pono e hōʻoia ʻia kahi hōʻike diagnostic i kēia hopena. Aia ia i ke kālailai ʻana i nā chromosome o ka pēpē ma hope o ka amniocentesis (kahi laʻana o ka wai amniotic) a i ʻole choriocentesis (ka hemo ʻana o kahi hāpana mai ka placenta). Kuhi ʻia ka hoʻokolohua diagnostic ma ke ʻano he hopena hope loa no ka mea ʻoi aku ka nui o ka invasive ma mua o ka DPNI a me ka hoʻāʻo o nā māka serum. 

I ka hanana o kahi hopena i kapa ʻia "maikaʻi"

ʻO kahi hopena i kapa ʻia "maikaʻi" ʻaʻole ia i ʻike ʻia kahi trisomy 21. Ke hoʻomau nei ka nānā ʻana o ka hāpai keiki ma ke ʻano maʻamau. 

I nā hihia kakaikahi, ʻaʻole paha e hāʻawi ka hopena i kahi hopena. Wahi a ka Biomedicine Agency, ʻo ka helu o nā hōʻike hōʻike ʻole hiki ʻole ke hana ʻia ma 2017 i hōʻike ʻia he 2% wale nō o nā NIDD āpau.

Wahi a ka Association des Cytogenéticiens de Langue Française (ACLF), "ʻo nā hopena e pili ana i ka noʻonoʻo (99,64%), ke kikoʻī (99,96%) a me ka waiwai wānana maikaʻi (99,44%) i ka heluna kanaka i hoʻonui i ka pilikia. maikaʻi loa ka aneuploidy fetal no Down's syndrome ”. No laila he hilinaʻi loa kēia hōʻike a hiki nō hoʻi iā ia ke pale aku i nā karyotypes 21 (na amniocentesis) i kēlā me kēia makahiki ma Palani.