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He aha ka trisomy 18, a i ʻole Edwards syndrome?
I ka wā fertilization, hui pū ʻia ka ovum a me ka sperm e hana i hoʻokahi pūlima like, ʻo ka hua manu. Hāʻawi ʻia kēia me 23 chromosomes (kākoʻo i ka hoʻoilina genetic) mai ka makuahine mai, a me 23 chromosomes mai ka makua kāne. A laila, loaʻa iā mākou he 23 mau chromosomes, a i ʻole 46 ka nui. Eia nō naʻe, hiki mai kahi anomaly i ka hāʻawi ʻana i ka hoʻoilina genetic, a ua hoʻokumu ʻia kahi trinomial o nā chromosomes ma kahi o kahi pālua. A laila ʻōlelo mākou no ka trisomy.
ʻO ka maʻi maʻi Edwards (i kapa ʻia ma hope o ka geneticist nāna i ʻike iā ia ma 1960) pili i ka pālua 18. ʻO ke kanaka me ka trisomy 18 he ʻekolu chromosomes 18 ma mua o ʻelua.
ʻO ka maʻi o ka trisomy 18 hopohopo ma waena hoʻokahi ma 6 hānau a hoʻokahi ma 000 hānau, kū'ē i ka 1 i 400 ma ka awelika no ka trisomy 21. ʻAʻole like me Down syndrome (trisomy 21), ʻO ka trisomy 18 ka hopena i ka make ma ka ʻōpū ma 95% o nā hihia, ma ka liʻiliʻi loa e like me ka portal no nā maʻi laha keiki makua ole.
Nā hōʻailona a me ka wānana o ka trisomy 18
ʻO ka Trisomy 18 kahi trisomy koʻikoʻi, ma muli o nā hōʻailona e hana ai. Loaʻa nā keiki hou me ka trisomy 18 me ka leo ʻiʻo maikaʻi ʻole (hypotonia, a laila e piʻi i ka hypertonia), hyporesponsiveness, paʻakikī o ka omo ʻana, nā manamana lima lōʻihi e kau ana, he ihu i luna, he waha liʻiliʻi. ʻIke pinepine ʻia ka ulu ʻana o ka intrauterine a me ka postnatal growth retardation, a me ka microcephaly (ke poʻo haʻahaʻa haʻahaʻa), ke kīnā ʻole a me nā pilikia kaʻa. He nui a pinepine nā malformations: nā maka, ka puʻuwai, ka ʻōnaehana hoʻoheheʻe ʻana, ka ʻāʻī, nā puʻupaʻa a me ka ʻāpana mimi… Ma waena o nā pilikia olakino ʻē aʻe, hiki iā mākou ke haʻi aku i kahi lehelehe māwae, nā wāwae lāʻau i ke koʻi hau, nā pepeiao i haʻahaʻa, ʻino ʻia a me ka angular ("faunas") , spina bifida (ka mea ʻino ka pani ʻana o ka paipu neural) a i ʻole ke pelvis haiki.
Ma muli o ka puʻuwai koʻikoʻi, neurological, digestive a renal malformations, ʻO nā keiki hānau hou me ka trisomy 18 maʻamau e make i ko lākou makahiki mua o ke ola. I ka hihia o "mosaic" a i ʻole "translocation" trisomy 18 (e ʻike i lalo), ʻoi aku ka lōʻihi o ke ola, akā ʻaʻole i ʻoi aku ma mua o ke kanaka makua.
Ma muli o kēia mau pilikia olakino e pili ana i ka chromosomal abnormality, ʻaʻole maikaʻi loa ka wānana no ka trisomy 18: ʻo ka hapa nui o nā pēpē i hoʻopilikia ʻia (90%) make ma mua o ka hiki ʻana i ka makahiki hoʻokahi, ma muli o nā pilikia.
E hoʻomaopopo naʻe i kēlāHiki ke ola lōʻihi i kekahi manawa, ʻoi aku ka hapa o ka trisomy, ʻo ia hoʻi ke noho pū nā pūnaewele me 47 chromosomes (me 3 chromosomes 18) me nā pūnaewele me 46 chromosomes, me 2 chromosomes 18 (mosaic trisomy), a i ʻole ke hui pū ʻia ka chromosome 18 me kekahi pai ma mua o ka 18 (translocation trisomy). Akā ʻaʻole hiki ke ʻōlelo a hele wāwae paha ka poʻe i hiki i ke kanaka makua.
Pehea e ʻike ai i ka trisomy 18?
Hoʻopiʻi pinepine ʻia ʻo Trisomy 18 i ka ultrasound, ma ka awelika ma kahi o ka pule 17 o ka amenorrhea (a i ʻole 15th pule o ka hāpai ʻana), ma muli o nā malformations fetal (i loko o ka puʻuwai a me ka lolo ma ke ʻano), nuchal translucency mānoanoa loa, hoʻopaneʻe ulu ... E hoʻomaopopo i ka serum ʻO nā māka i hoʻohana ʻia no ka nānā ʻana no ka trisomy 21 i kekahi manawa he mea ʻino, akā ʻaʻole kēia ka hihia. No laila ʻoi aku ka maikaʻi o ka ultrasound no ka hana ʻana i ka maʻi o ka trisomy 18. ʻO ka karyotype fetal (ka hoʻonohonoho ʻana o nā chromosomes a pau) a laila hiki ke hōʻoia a ʻaʻole ʻo Edwards syndrome.
Trisomy 18: he aha ka lāʻau? He aha ke kākoʻo ?
ʻO ka mea pōʻino, ʻaʻohe lāʻau lapaʻau i kēia lā e hoʻōla i ka trisomy 18. Wahi a ka pūnaewele keiki makua ole, ʻO ka mālama ʻana i nā malformations ʻaʻole i hoʻololi nui i ka prognosis. Eia kekahi, ʻaʻole hiki ke hana ʻia kekahi mau malformations.
ʻO ka mālama ʻana i ka trisomy 18 no laila aia ma luna o nā mea āpau mālama kākoʻo a hōʻoluʻolu. ʻO ka pahuhopu e hoʻomaikaʻi i ke ola o nā pēpē i hoʻopilikia ʻia e like me ka hiki, ma ka physiotherapy no ka laʻana. Hiki ke hoʻokomo ʻia ka ventila artificial a me kahi paipu ʻōpū no ka meaʻai maikaʻi a me ka oxygenation. Lawe ʻia ka hoʻokele e kahi hui lapaʻau multidisciplinary.