He aha nā kumu o kēia mau maʻi a he aha ka pilikia o ka loaʻaʻana o ke keiki me ka maʻi i loko o ka 21romo 13 18 13 - e ho'āʻo e hōʻoia.
ʻO ka Pathophysiology o nā maʻi
ʻO nā maʻi o ka maʻamau maʻamau - keʻano'ākau ma 13, 18, aiʻole 21 mau chromosomes e ala mai ma muli o ka hoʻopili pololeiʻoleʻana o ka mea gen ma ke kaʻina o ka mahele pūnaewele. ʻO nā hua'ōlelo'ē aʻe,ʻo ka pēpē i loaʻa mai nā mākua mai kahi o nā chromosome, aʻo kahi kope o 13, 18 a 21 mau kromosoma e pale i ka uluʻana o ka manaʻo a me ke kino.
Wahi a nāʻikepili, ka nui o ka holoʻokoʻa ma ka 21st chromosome (Down's cider) e ulu pinepine aku ma mua o ka'ōkiko ma nā 13 a me 18 o nā chromosomes. Aʻo ka hoʻomaha o ka olaʻana o nā pēpē i hānauʻia me ka Patau a me Edwards syndromes, ma keʻano he kūlana, he emi iho i ka makahiki. ʻOiaiʻo nā mea lawe iʻekolu kope o ka 21st chromosome a hiki i ka wāʻelemakule.
Akā i kekahi hihia,ʻaʻole hiki i nā keiki me nāʻano likeʻole ke lilo i mau lālā piha o ka hui, hiki iā mākou ke'ōlelo he pilikia lākou i ka loli a me ka pilikia. No laila,ʻo nā wāhine hāpai, i ka manawa iʻikeʻia ai ka hopena o nā mea kanu lāʻau,ʻikeʻia he kūlana nui o ka'ākau ma ka 13, 18th, 21st chromosome, ke nānā houʻia. Inā hōʻoia ka hōʻailona, hiki iā lākou ke noi e hoʻopau i ka'ōpū.
Palena 21 21 13: ka weheweheʻana i nā kānana
ʻO ka pilikia o ka hānauʻana o kahi keiki me ka'ōpū o ka 21, 18, a me ka 13th chromosome piʻi i kekahi manawa me ka makahiki o ka makuahine, akāʻaʻole hiki ke hoʻokaʻawaleʻia kēia mai nā kaikamahine'ōpio. I mea e emi ai ka nui o nā keiki i hānauʻia me kēia mau maʻi, ua hoʻomohala nā meaʻepekema i nāʻano diagnostical kūikawā e hiki ai i kekahi ke manaʻo he pilikia kekahi i ka wā o ka hāpaiʻana.
I ka manawa mua o ka hōʻoiaʻana, nā mеhine i ka wā e hiki mai ana, ua ikaika nui nā kauka e hele i nā ho'āʻo hoʻokolohua,ʻo ia hoʻi, ka hōʻailonaʻekolu. Mai nā 15-20 hebedoma, hōʻike ka wahine i ka hoʻokolohua koko, e like me ka mea i hoʻoholoʻia ai ka pae: AFP (alpha-fetoprotein), estriol, hCG, a inhibin-A. ʻO kēia mau hope he mau hiʻohiʻona maʻamau o ka uluʻana a me keʻano o ka hānai.
I mea e hoʻonā ai i ka hopena o kahi trisomy ma ka 21, 18, 13 chromosome, ke hoʻohālikelike nā makahiki i nā hōʻailona i loaʻa. Uaʻikeʻia he hiki i nā wāhine ke hoʻolālā i kahi hāpū Down syndrome:
- malalo o ke 25 ma ka makahiki: 1250;
- i nā makahiki he 30 - 1: 1000;
- i nā makahiki he 35 - 1: 400;
- i nā makahiki he 40 - 1: 100;
- i nā wāhine maʻamauʻoi aʻe ma kahi o 45, ke piʻi nei ka pilikino i nā manawa - 1 a 40.
Eia kekahi laʻana, inā he 1:95 ka hopena hōʻike o kahi wahine 38-makahiki, e hōʻike ana kēia i ka nui o ka pilikia a me ka pono no ka hoʻokolokolo hou. No kaʻike hope loa, ua hoʻohanaʻia nāʻano hana likeʻole me ka biopsy chorion , ka amniocentesis , ka cordocentesis, placentocentesis.
ʻO ke kumu o ka piʻiʻana o ka pilikia o ka hānauʻana i nā keiki me kahi maʻi 13, 18, e hilinaʻi ana i ka makahiki o ka makuahine, ke huliʻia hoʻi, akā,ʻaʻole i kūkalaʻia ma mua o ka hihia o ka'ōlohelohe 21. I 50%, uaʻikeʻia nāʻokoʻa i ka manawa o ke kaha kiʻi. No kaʻoihanaʻikeʻike,ʻaʻole i maʻalahi ka hoʻoholoʻana i ka Edwards a me ka maʻi Patau ma nā hiʻohiʻonaʻano.
