Edwards Syndrome (trisomy 18): he aha ia, nā ʻano a me ka mālama ʻana

Anter

• He aha ke kumu o kēia maʻi maʻi
• Nā hiʻohiʻona nui o ka maʻi
• Pehea e hōʻoia ai i ke kuhi
• Pehea e hana ai i ka lāʻau

ʻO Edwards Syndrome, ka mea i ʻike ʻia ma ke ʻano he trisomy 18, he maʻi maʻi laha ʻole ia e hoʻopaneʻe ai i ka ulu ʻana o ka pēpē, e hopena ana i ka ʻōpū kūlohelohe a i ʻole nā ​​hānau hānau koʻikoʻi e like me microcephaly a me nā pilikia puʻuwai, ka mea hiki ʻole ke hoʻoponopono a ke ola o ke pēpē.

ʻO ka mea maʻamau, ʻoi aku ka pinepine o Edwards 'Syndrome i nā hāpai hāpai ʻana ma mua o 35 mau makahiki o ka wahine hāpai. No laila, inā hāpai ka wahine ma hope o 35 mau makahiki, he mea nui ia e loaʻa i kahi hāpai maʻamau maʻamau me kahi mea hānau hānau, i mea e ʻike ai i nā pilikia i ka wanaʻao.

Minamina, ʻaʻohe lāʻau a Edwards 'Syndrome, a no laila, loaʻa i ka pēpē i hānau ʻia me kēia maʻi ka haʻahaʻa o ke ola, me ka ʻoi aku o 10% i hiki ke ola a hiki i 1 makahiki ma hope o ka hānau ʻana.

He aha ke kumu o kēia maʻi maʻi

Hoʻokumu ʻia ʻo Edwards 'Syndrome e ke ʻano o 3 kope o ka chromosome 18, a aia he 2 kope wale nō o kēlā me kēia chromosome. Kūleʻa kēia loli a maʻa ʻole, no laila, ʻaʻohe mea maʻamau ka hihia hou ʻana iā ia iho i loko o ka ʻohana like.

No ka mea he maʻi kūlohelohe ʻole ia, ʻo Edwards Syndrome ka mea ʻē aʻe ma mua o nā mākua i nā keiki. ʻOiai ʻoi aku ka maʻamau o nā keiki a nā wahine e hāpai ana ma mua o 35, hiki ke maʻi i kēlā me kēia makahiki.

Nā hiʻohiʻona nui o ka maʻi

ʻO nā keiki i hānau ʻia me Edwards Syndrome he ʻano like me:

• ʻO ke poʻo liʻiliʻi a haiki;
• Ka waha a me ka iwi ā liʻiliʻi;
• Loihi ka manamana lima a maikaʻi ʻole hoʻomohala ʻia ka manamana nui;
• Wāwae kapuni;
• Pāhaʻa cleft;
• Nā pilikia kīwī, e like me polycystic, ectopic a i ʻole nā ​​kīʻaha hypoplastic, aʻaʻaʻaʻaʻa, hydronephrosis, hydroureter a i ʻole pālua ʻana o nā ureter;
• Nā maʻi puʻuwai, e like me nā kīnā o ka septum ventricular a me ductus arteriosus a i ʻole ka maʻi polyvalvular;
• Kīnā o ka noʻonoʻo;
• Nā pilikia hanu, ma muli o nā hoʻololi o ke hanganga a i ʻole ka loaʻa ʻole o kekahi o nā akemāmā;
• Hōʻī paʻakikī.
• Uē nāwaliwali;
• Kaumaha haʻahaʻa ma ka wā hānau;
• ʻO nā hoʻololi Cerebral e like me ka cerebral cyst, hydrocephalus, anencephaly;
• Paralysis helehelena.

Hiki paha i ke kauka ke kānalua i kā Edward's Syndrome i ka wā hāpai, ma o ka ultrasound a me nā hoʻokolohua koko e loiloi i ka chorionic gonadotrophin, alpha-fetoprotein a me ka estronj unconjugated i ka serum makuahine i ka 1st a me ka ʻelua trimester o ka hāpai ʻana.

Eia kekahi, ʻo ka echocardiography fetal, i hana ʻia ma 20 mau pule o ka hāpai ʻana, e hōʻike paha i nā kīnā o ka naʻau, i loaʻa i 100% o nā hihia Edwards.

Pehea e hōʻoia ai i ke kuhi

Hana pinepine ʻia ke kuhi o Edwards maʻi i ka wā hāpai ke nānā ke kauka i nā loli i hōʻike ʻia ma luna. E hōʻoia i ka hōʻoia, hiki i nā hoʻokolohua hoʻoweliweli hou aʻe ke hoʻokō ʻia, e like me ka chorionic villus puncture a me amniocentesis.

Pehea e hana ai i ka lāʻau

ʻAʻohe lāʻau lapaʻau kūikawā no Edwards 'Syndrome, akā naʻe, hiki i ke kauka ke ʻōlelo aku i ka lāʻau a i ʻole ke ʻoki e mālama i kekahi mau pilikia e hoʻoweliweli i ke ola o ka pēpē i nā pule mua o ke ola.

ʻO ka maʻamau, aia ke pēpē i ke olakino palupalu a pono i kahi mālama pilikino i ka hapa nui o ka manawa, no laila pono ia e hoʻokomo i ka haukapila e loaʻa ai ka lapaʻau kūpono, me ka ʻeha ʻole.

Ma Brazil, ma hope o ka hōʻailona, ​​hiki i ka wahine hāpai ke hoʻoholo i ka hana ʻōpū, inā ʻike ke kauka aia kahi pilikia o ke ola a i ʻole ka hiki ke hoʻomohala i nā pilikia psychological koʻikoʻi no ka makuahine i ka wā hāpai.