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ʻO Edwards syndrome - ka lua o ka maʻi maʻamau maʻamau ma hope o Down Syndrome, pili me ka chromosomal aberrations. Me ka maʻi Edwards, aia kahi trisomy piha a ʻāpana paha o ka chromosome 18, ma muli o ka hana ʻana o kāna kope hou. Hoʻonāukiuki kēia i ka nui o nā maʻi hiki ʻole ke hoʻololi ʻia o ke kino, i ka hapa nui o nā hihia i kūpono ʻole i ke ola. ʻO ka pinepine o ka loaʻa ʻana o kēia pathology he hoʻokahi hihia no 5-7 tausani mau keiki, aʻo ka hapa nui o nā keiki hou me ka hōʻailona Edwards he mau kaikamahine. Manaʻo nā kānaka noiʻi e make nā keiki kāne i ka wā hānau a i ka wā hānau.
Ua wehewehe mua ʻia ka maʻi e ka geneticist Edwards i ka makahiki 1960, nāna i ʻike ma mua o 130 mau hōʻailona e hōʻike ana i kēia pathology. ʻAʻole i hoʻoili ʻia ka maʻi Edwards, akā ʻo ia ka hopena o ka mutation, ʻo 1%. ʻO nā kumu e hoʻonāukiuki ai i ka pathology he radiation radiation, consanguinity ma waena o ka makuakāne a me ka makuahine, ka ʻike mau ʻana i ka nicotine a me ka waiʻona i ka wā o ka hāpai ʻana a me ka hāpai ʻana, hoʻopili me nā mea hoʻoweliweli kemika.
ʻO ka maʻi maʻi ʻo Edwards kahi maʻi genetic e pili ana me ka mahele ʻokoʻa o nā chromosome, no laila ua hoʻokumu ʻia kahi kope hou o ka chromosome 18. Ke alakaʻi nei kēia i ka nui o nā maʻi genetic, i hōʻike ʻia e nā pathologies koʻikoʻi o ke kino e like me ka lolo o ka noʻonoʻo, ka naʻau congenital, ka ate, ka ʻōnaehana nerve waena, a me nā hemahema musculoskeletal.
He kakaikahi ka maʻi o ka maʻi - 1: 7000 mau hihia, ʻoiai ʻo ka hapa nui o nā keiki hou me Edwards syndrome ʻaʻole ola ma mua o ka makahiki mua o ke ola. I waena o nā poʻe maʻi makua, ʻo ka hapa nui (75%) he wahine, no ka mea, make nā kāne male me kēia pathology i ka wā o ka ulu ʻana o ka fetal, no laila e pau ai ka hāpai ʻana i ka hāʻule ʻole.
ʻO ke kumu pilikia nui no ka ulu ʻana o ka maʻi Edwards ʻo ia ka makahiki o ka makuahine, no ka mea, ʻo ka nondisjunction o nā chromosomes, ʻo ia ke kumu o ka pathology fetal, ma ka hapa nui (90%) aia i loko o ka cell germ maternal. ʻO ke koena 10% o nā hihia o Edwards syndrome e pili ana me ka unuhi ʻana a me ka wehe ʻole ʻana o nā chromosomes zygote i ka wā o ka cleavage.
ʻO ka maʻi maʻi Edwards, e like me Down syndrome, he mea maʻamau ia i nā keiki i hāpai nā makuahine i ke kanahā makahiki. (heluhelu pū kekahi: Nā kumu a me nā hōʻailona o ka down syndrome)
No ka hāʻawi ʻana i ka mālama olakino i nā keiki me nā malformations congenital i hoʻonāukiuki ʻia e nā abnormalities chromosomal, pono e nānā ʻia nā keiki hou e ka cardiologist, neurologist, pediatric urologist a me orthopedist. Ma hope koke o ka hānau ʻana, pono ke pēpē i kahi hoʻokolohua diagnostic, e komo pū ana me ka ultrasound o ke pelvis a me ka ʻōpū, a me ka echocardiography e ʻike ai i nā mea ʻino o ka naʻau.
Nā hōʻailona o Edwards Syndrome
ʻO ka papa pathological o ka hāpai ʻana kekahi o nā hōʻailona nui o ke alo o Edwards syndrome. ʻAʻole hana ka pēpē, lawa ʻole ka nui o ka placenta, polyhydramnios, hoʻokahi wale nō aʻa umbilical. I ka hānau ʻana, ʻike ʻia nā pēpē me Edwards syndrome e ke kaumaha o ke kino haʻahaʻa, ʻoiai inā lohi ka hāpai ʻana, asphyxia ma hope koke o ka hānau ʻana.
ʻO ka nui o nā pathologies congenital o nā pēpē me Edwards syndrome e alakaʻi i ka nui o lākou e make i nā pule mua o ke ola ma muli o nā pilikia o ka naʻau, ka hiki ʻole o ka hanu maʻamau a me ka digestion. Ma hope koke o ka hānau ʻana, lawe ʻia kā lākou meaʻai ma o ka paipu, no ka mea ʻaʻole hiki iā lākou ke omo a ale, pono e hoʻoheheʻe ʻia nā māmā.
ʻO ka hapa nui o nā hōʻailona e ʻike ʻia e ka maka, no laila ua ʻike koke ʻia ka maʻi. ʻO nā hōʻike waho o ka maʻi Edwards e pili ana: pōkole sternum, clubfoot, dislocation o ka ʻūhā a me ke ʻano kūlohelohe o nā iwi ʻaoʻao, nā manamana lima, ka ʻili i uhi ʻia me nā papillomas a i ʻole hemangiomas. Eia kekahi, ʻo nā keiki hānau hou me kēia pathology he ʻano helehelena kikoʻī - he lae haʻahaʻa, he ʻāʻī pōkole me ka ʻili nui o ka ʻili, he waha liʻiliʻi, he lehelehe māwae, he convex nape a me microphthalmia; Ua haʻahaʻa nā pepeiao, ua haiki loa nā aʻa pepeiao, ua ʻino nā ʻāʻī.
I nā keiki me ka maʻi Edwards, aia nā maʻi koʻikoʻi o ke kikowaena o ke kikowaena - microcephaly, cerebellar hypoplasia, hydrocephalus, meningomyelocele a me nā mea ʻē aʻe. ʻO kēia mau malformations a pau e alakaʻi i ka uhaki i ka naʻauao, oligophrenia, idiocy hohonu.
ʻOkoʻa nā hōʻailona o Edwards syndrome, ʻike ʻia ka maʻi mai nā ʻōnaehana a me nā ʻāpana āpau - ka pōʻino i ke aorta, ka puʻuwai septa a me nā valves, obstruction intestinal, esophageal fistulas, umbilical and inguinal hernias. Mai ka ʻōnaehana genitourinary i nā pēpē kāne, he mea maʻamau nā testicles undescended, i nā kaikamahine - clitoral hypertrophy a me kahi kōpū bicornuate, a me nā pathologies maʻamau - hydronephrosis, renal failure, bladder diverticula.
Nā kumu o Edwards Syndrome
ʻO nā maʻi Chromosomal e alakaʻi ana i ka puka ʻana o Edwards Syndrome aia ma ka pae o ka hoʻokumu ʻana o nā cell germ - oogenesis a me spermatogenesis, a i ʻole ke ʻike ʻia i ka wā e ʻoki ʻole ʻia ai ka zygote i hana ʻia e ʻelua mau cell germ.
ʻO nā pilikia o ka maʻi maʻi o Edward ua like ia me nā mea ʻino ʻē aʻe o ka chromosomal, ʻoi aku ka nui o ka like me ka maʻi o Down.
Hoʻonui ka nui o ka hiki ʻana o ka pathology ma lalo o ka mana o kekahi mau kumu, i waena o nā mea nui o ka makahiki o ka makuahine. ʻOi aku ka nui o ka maʻi o Edwards i nā wahine hānau ma luna o nā makahiki 45. ʻO ka hoʻolaha ʻana i ka radiation e alakaʻi i nā abnormalities chromosomal, a ʻo ka hoʻohana mau ʻana i ka waiʻona, nā lāʻau lapaʻau, nā lāʻau lapaʻau ikaika, a me ka puhi paka. ʻO ka pale ʻana i nā hana maikaʻi ʻole a me ka pale ʻana i ka ʻike ʻana i nā mea hoʻoweliweli kemika ma ka wahi hana a i ʻole ka ʻāina o ka noho ʻana i ʻōlelo ʻia ʻaʻole i ka wā hāpai wale nō, akā i kekahi mau mahina ma mua o ka hāpai ʻana.
ʻO ka hōʻailona o Edwards syndrome
ʻO ka maʻi maʻi i ka manawa e hiki ai ke ʻike i kahi maʻi chromosomal i ka wā mua o ka hāpai ʻana a hoʻoholo i ka pono o ka mālama ʻana, me ka noʻonoʻo ʻana i nā pilikia āpau a me nā malformations congenital o ka fetus. ʻAʻole lawa ka ʻikepili no ka nānā ʻana i ka ultrasound i nā wahine hāpai e ʻike i ka maʻi ʻo Edwards a me nā maʻi genetic ʻē aʻe, akā hiki ke hāʻawi i ka ʻike e pili ana i ke ʻano o ka hāpai ʻana. ʻO ka hoʻokaʻawale ʻana mai ka maʻamau, e like me polyhydramnios a i ʻole kahi pēpē liʻiliʻi, e hoʻonui i ka noiʻi, ka hoʻokomo ʻana o kahi wahine i kahi pūʻulu pilikia a me ka hoʻonui ʻana i ka mana o ka hāpai ʻana i ka wā e hiki mai ana.
ʻO ka nānā ʻana i ka prenatal kahi hana diagnostic kūpono e ʻike ai i nā malformations i ka wā mua. Hana ʻia ka nānā ʻana i ʻelua mau pae, ʻo ka mea mua e hana ʻia i ka pule 11 o ka hāpai ʻana a aia i loko o ke aʻo ʻana i nā ʻāpana koko biochemical. ʻAʻole paʻa ka ʻikepili e pili ana i ka hoʻoweliweli ʻana o Edwards syndrome i ka trimester mua o ka hāpai ʻana, i mea e hōʻoia ai i ko lākou hilinaʻi, pono ia e hele i ka lua o ka pae o ka screening.
Ua ʻōlelo ʻia nā wahine e pili ana i ka maʻi Edwards e hana i kahi hoʻokolohua invasive e hōʻoia i ka maʻi maʻi, e kōkua ana i ka hoʻomohala ʻana i kahi hoʻolālā hana.
ʻO nā hōʻailona ʻē aʻe e hōʻike ana i ka ulu ʻana o ka maʻi Edwards he mau mea ʻino ʻole o ka pēpē i ʻike ʻia ma ka ultrasound, ka nui o ka wai amniotic me kahi placenta liʻiliʻi, a me ka agenesis o ke aʻa umbilical. Hiki ke kōkua i ka ʻike Doppler o ke kahe ʻana o ka uteroplacental, ka ultrasound a me ka nānā ʻana i ka maʻi maʻi Edwards.
Ma waho aʻe o nā hōʻailona o ke kūlana o ka fetus a me ke ʻano pathological o ka hāpai ʻana, ʻo ke kumu no ke kau inoa ʻana i kahi makuahine i ka wā e hiki mai ana i kahi hui koʻikoʻi he mau makahiki ma mua o 40-45 a me ke kaumaha.
No ka hoʻoholo ʻana i ke ʻano o ka pēpē a me nā ʻano o ke ʻano o ka hāpai ʻana i ka pae mua o ka nānā ʻana, pono e loaʻa ka ʻikepili i ka ʻike o ka protein PAPP-A a me nā subunits beta o chorionic gonadotropin (hCG). Hana ʻia ka HCG e ka embryo ponoʻī, a i kona ulu ʻana, e ka placenta e hoʻopuni ana i ka pēpē.
Hana ʻia ka lua o ka hana e hoʻomaka ana mai ka pule 20th o ka hāpai ʻana, me ka hōʻiliʻili ʻana i nā ʻāpana kiko no ka hoʻokolokolo histological. ʻO ke koko kaula a me ka wai amniotic ka mea kūpono loa no kēia mau kumu. I kēia manawa o ka nānā ʻana i ka perinatal, hiki ke huki i nā hopena e pili ana i ke karyotype o ke keiki me ka pololei. Inā maikaʻi ʻole ka hopena o ke aʻo ʻana, a laila ʻaʻohe chromosomal abnormalities, inā ʻaʻole he kumu no ka hana ʻana i ka maʻi o Edwards syndrome.
ʻO ka mālama ʻana i ka maʻi Edwards
E like me nā maʻi genetic ʻē aʻe i hoʻokumu ʻia e nā chromosomal abnormalities, maikaʻi ʻole ka prognosis no nā keiki me Edwards syndrome. He nui ka poʻe o lākou e make koke i ka hānau ʻana a i ʻole i loko o kekahi mau lā, ʻoiai nā kōkua olakino i hāʻawi ʻia. Hiki i nā kaikamāhine ke ola a hiki i ka ʻumi mahina, make nā keikikāne i loko o ʻelua a ʻekolu paha. ʻO 1% wale nō o nā keiki hānau hou e ola a hiki i nā makahiki he ʻumi, ʻoiai ʻaʻole pilikia ke kūʻokoʻa a me ka hoʻololi ʻana i ka nohona ma muli o ke kino kīnā koʻikoʻi.
Hiki ke ola i nā mahina mua i nā poʻe maʻi me kahi ʻano mosaic o ka maʻi, no ka mea ʻaʻole pili ka pōʻino i nā cell āpau o ke kino. Hiki ke ʻano mosaic inā loaʻa nā mea ʻino o ka chromosomal ma ke kahua o ka māhele zygote, ma hope o ka hui ʻana o nā pūnaewele germ kāne a me ka wahine. A laila, ʻo ke kelepona kahi i loaʻa ai kahi nondisjunction o nā chromosomes, no ka mea i hoʻokumu ʻia ai ka trisomy, i ka wā o ka hoʻokaʻawale ʻana e hoʻāla ai i nā cell abnormal, e hoʻonāukiuki i nā ʻano pathological āpau. Inā loaʻa ka trisomy i ka pae o ka gametogenesis me kekahi o nā pūnaewele germ, a laila, ʻano ʻino nā cell a pau o ka fetus.
ʻAʻohe lāʻau lapaʻau e hiki ke hoʻonui i ka manawa e ola hou ai, no ka mea, ʻaʻole hiki ke hoʻopilikia i ka pae chromosomal i nā cell āpau o ke kino. ʻO ka mea wale nō i hiki i ka lāʻau lapaʻau hou ke hāʻawi aku i ka hōʻailona hōʻailona a me ka mālama ʻana i ke ola o ke keiki. ʻO ka hoʻoponopono ʻana i nā hanana pathological e pili ana me Edwards syndrome hiki ke hoʻomaikaʻi i ka maikaʻi o ke ola o ka mea maʻi a hoʻolōʻihi i kona ola. ʻAʻole ʻōlelo ʻia ka hana ʻokiʻoki no nā malformations congenital, no ka mea, e pili ana i nā pilikia nui no ke ola o ka mea maʻi a he nui nā pilikia.
ʻO ka poʻe maʻi me ka maʻi Edwards mai nā lā mua o ke ola e pono e nānā ʻia e kahi pediatrician, no ka mea, ua maʻalahi lākou i nā mea maʻi maʻi. Ma waena o nā keiki hou me kēia pathology, conjunctivitis, nā maʻi infectious o ka ʻōnaehana genitourinary, otitis media, sinusitis, a me ka maʻi pneumonia.
ʻO nā mākua o kahi keiki me ka maʻi Edwards e hopohopo pinepine e pili ana i ka nīnau inā hiki ke hānau hou, he aha ka manaʻo o ka hāpai hou ʻana e pathological. Hōʻoia nā haʻawina e haʻahaʻa loa ka pilikia o ka hoʻi hou ʻana o ka maʻi Edwards i ka kāne like, ʻoiai ke hoʻohālikelike ʻia me ka awelika o 1% o nā hihia. ʻO ka nui o ka loaʻa ʻana o kahi keiki ʻē aʻe me ka pathology like ma kahi o 0,01%.
I mea e ʻike pono ai i ka maʻi maʻi Edwards, ʻōlelo ʻia nā makuahine e manaʻo nei e hana i ka nānā antenatal i ka wā hāpai. Inā ʻike ʻia nā pathologies i ka wā mua o ka hāpai ʻana, hiki ke loaʻa ka hoʻomake ʻana no nā kumu olakino.