Ke ʻeha nei kāu pēpē i kēia maʻi? E kamaʻilio kākou e pili ana i ka Edwards Syndrome a i ʻole Trisomy 18.

No ʻoukou e manaʻo nei e lilo i makuahine, a i ʻole e manaʻo ana i kahi lālā hou e hui pū me kou ʻohana, he mea koʻikoʻi paha kēia. Eia nō naʻe, aia kekahi mau mea a mākou e makemake ʻole ai e lohe i kekahi manawa, akā he mea nui loa ia e ʻike. I kēia lā e kamaʻilio mākou e pili ana i kekahi o ia ʻano maʻi. ʻO ia hoʻi ʻo Edwards Syndrome, i ʻike ʻia hoʻi ʻo Trisomy 18, he maʻi genetic koʻikoʻi loa.

He aha ka Edwards Syndrome?

I ka ʻōlelo maʻalahi, ʻo Edwards Syndrome kahi maʻi genetic e hoʻopilikia nui i ka ulu ʻana a me ka ulu ʻana o kahi pēpē . ʻO nā pēpē i hānau ʻia me kēia maʻi, hānau pinepine ʻia me ke kaumaha hānau haʻahaʻa. Loaʻa iā lākou kekahi mau kīnā hānau like ʻole a me nā ʻano kino kikoʻī. He mea maʻamau ke kaumaha a me ka makaʻu ke lohe ʻoe i kēia. Akā e kamaʻilio hou aku kākou e pili ana i kēia, ʻae?

ʻO wai ka mea hiki ke loaʻa i ka Edwards Syndrome (Trisomy 18)?

ʻO kaʻoiaʻiʻo, hiki i ka Edwards Syndrome (Trisomy 18) ke hiki i ka pēpē o kekahi . Hiki koke ia, ʻo ia hoʻi, ʻaʻole i wānana ʻia, ke loaʻa kahi kope keu o ka chromosome 18 i loko o nā cell o ka pēpē. Eia nō naʻe, ua ʻike ʻia ʻo ka ʻelemakule o ka makuahine, ʻo ia hoʻi, inā ʻoi aku ka makuahine ma mua o 35 mau makahiki i ka wā hāpai, ʻoi aku ka nui o ka pilikia o kēia maʻi . Akā e hoʻomanaʻo, inā loaʻa i kekahi keiki kēia maʻi, ʻo ka manawa kūpono e loaʻa ai i ke keiki aʻe he haʻahaʻa loa (ʻaʻole iʻoi aku ma mua o 1%).

Pehea ka maʻamau o ka Edwards Syndrome (Trisomy 18)?

ʻO kēia maʻi, ʻo Edwards Syndrome (Trisomy 18), e kū mai ana ma kahi o hoʻokahi i kēlā me kēia 5,000 a 6,000 mau hānau ola. Eia nō naʻe, i ka wā hāpai, ʻoi aku ka maʻamau o ke ʻano, e kū mai ana ma kahi o hoʻokahi i kēlā me kēia 2,500 mau hāpai ʻana. ʻO ka mea kaumaha, ʻo nā pilikia e pili ana me kēia hōʻailona e hopena pinepine i ka nalowale ʻana o ka fetus i loko o ka ʻōpū (miscarriage) a i ʻole ka hānau make ʻana .

I ka manawa hea i ʻike ʻia ai ka Edwards Syndrome (Trisomy 18)?

Ua ʻike mua ʻia kēia ʻano maʻi, i kapa ʻia ʻo Edwards syndrome (Trisomy 18), i ka makahiki 1960 e John Hilton Edwards a me kāna hui. Ua ʻike lākou iā ia i ka wā e aʻo ana i kahi pēpē hānau hou i loaʻa nā ʻano ʻē like ʻole a me nā pilikia ulu noʻonoʻo. Ua ʻōlelo lākou ua hoʻokumu ʻia ke ʻano ma muli o ka hoʻohui ʻana o ke kolu o ka kope o ka chromosome 18 (ʻo ia ke kumu i kapa ʻia ai ʻo trisomy 18).

He aha nā hōʻailona o ka Edwards Syndrome (Trisomy 18)?

ʻIke pinepine ʻia nā hōʻailona o kahi pēpē me ka Edwards syndrome (Trisomy 18) ma mua a ma hope o ka hānau ʻana . ʻO nā hōʻailona nui e pili ana i ka ulu haʻahaʻa loa, nā kīnā hānau he nui, a me nā lohi koʻikoʻi o ka ulu ʻana a i ʻole nā ​​​​kīnā aʻo .

Nā hōʻailona i ʻike ʻia i ka wā hāpai

E nānā kāu kauka i kēia mau hiʻohiʻona i ka wā o ke kiʻi ultrasound i ka wā hāpai:

• Kakaikahi loa nā neʻe ʻana o ka fetal.
• Hoʻokahi wale nō aʻa o kou kaula umbilical (ʻelua mau maʻamau).
• He ʻuʻuku loa ka placenta.
• ʻO ke alo o nā kīnā hānau like ʻole.
• ʻO ka nui o ka wai amniotic e hoʻopuni ana i ka fetus i kapa ʻia ʻo "polyhydramnios".

ʻOiai ua hānau ola ʻia kekahi mau pēpē me Edwards Syndrome, ʻo ka hapa nui e hāʻule lākou a make paha i nā mahina ʻekolu mua o ka hāpai ʻana .

Nā hōʻailona i ʻike ʻia ma hope o ka hānau ʻana

Ma hope o ka hānau ʻana o ke pēpē, hiki i kahi pēpē me Edwards syndrome (Trisomy 18) ke loaʻa nā ʻano kino penei:

• Ua emi ke kani o nā ʻiʻo (hypotonia) - ua palupalu loa ke pēpē.
• Ua hoʻohaʻahaʻa ʻia nā pepeiao ma mua o ka maʻamau.
• ʻAʻole paha e hana pono ʻia nā ʻōpū o loko (e like me ka puʻuwai a me nā māmā) a i ʻole e loli paha kā lākou hana.
• Nā pilikia ulu noʻonoʻo (pinepine koʻikoʻi loa ).
• Nā manamana wāwae i hoʻomoe ʻia ma luna o kekahi a/a i ʻole nā ​​wāwae i huki ʻia i hoʻokahi (`(clubfeet)`).
• He ʻuʻuku loa ke kino, ke poʻo, ka waha, a me ka ʻauwae.
• Haʻahaʻa loa ka uē ʻana a haʻahaʻa loa ka pane ʻana i nā leo .

Nā hōʻailona koʻikoʻi o ka maʻi Edwards (Trisomy 18)

No ka mea, ʻaʻole i ulu piha ke kino o kahi pēpē me Edwards Syndrome (Trisomy 18), he koʻikoʻi loa nā hopena ʻaoʻao o kēia maʻi, a pinepine hoʻi e hoʻoweliweli i ke ola . ʻO kekahi o lākou:

• Maʻi puʻuwai hānau a me ka maʻi puʻupaʻa.
• Nā ʻano hanu ʻole (ka hemahema o ka hanu ʻana).
• Nā pilikia a me nā kīnā hānau o ka ʻōnaehana hoʻoheheʻe (`(Gastrointestinal tract)`) a me ka paia ʻōpū.
• ʻO nā Hernias (`(Hernias)`).
• ʻO ke skoliosis.

E noʻonoʻo i kēia: Ma kahi o 90% o nā pēpē me Edwards Syndrome (Trisomy 18) he maʻi puʻuwai. ʻO kēia ke kumu nui o ka make ʻana o kēia mau pēpē ma mua o ka manawa, ma hope o ka hāʻule ʻana o ka hanu.

He aha ke kumu o ka Edwards Syndrome (Trisomy 18)?

I ka ʻōlelo maʻalahi, ua hoʻokumu ʻia ka maʻi Edwards (Trisomy 18) e ke alo o ʻekolu kope o ka chromosome 18 ma kahi o nā ʻelua maʻamau .

I kēia manawa, e nānā, he 46 mau chromosome ko kākou a pau i loko o ko kākou kino, i māhele ʻia i 23 mau pālua. Aia i loko o kēia mau chromosome ko kākou DNA (nā kuhikuhi e pono ai ko kākou kino e ulu a hana). Loaʻa iā kākou kekahi seti o kēia mau chromosome mai ko kākou makuahine a ʻo kekahi mai ko kākou makuakāne mai.

Ke hoʻokumu ʻia nā pūnaewele, hoʻomaka mua lākou ma ke ʻano he mau pūnaewele i hoʻoulu ʻia i loko o nā ʻōpū hānau (sperm i nā kāne, hua manu i nā wahine). Māhele kēia mau pūnaewele (ma ke kaʻina hana i kapa ʻia ʻo "meiosis") a kope iā lākou iho e hana i nā hui. ʻO ka pūnaewele hopena he hapalua ka nui o ka DNA e like me ke kelepona mua, ʻo ia hoʻi, 23 o nā chromosomes 46. Loaʻa i kēlā me kēia hui o nā chromosomes kahi helu.

Ke manaʻo ʻia kēia mau hui chromosome e hoʻokaʻawale i ka wā o ka hoʻokumu ʻia ʻana o nā hua a me ka sperm, i kekahi manawa ʻaʻole hoʻokaʻawale pono kekahi o nā hui chromosome (e like me kahi mea pipili), a pau nā kope ʻelua i ka hua like a i ʻole ka sperm. A laila, i ka wā hoʻoulu ʻana, hui pū lākou me kekahi kope mai kekahi makua ʻē aʻe, e hana ana i ʻekolu kope . He mea maʻamau ʻole kēia ʻano kūlike ʻole o ka chromosome, ʻaʻole hiki ke wānana ʻia, a ʻaʻole i hana ʻia e kekahi mea a nā mākua i hana ai ma mua a i ʻole i ka wā hāpai .

Ke hoʻohui ʻia kahi kope ʻekolu o kahi pālua chromosome, ua kapa ʻia ʻo ia he trisomy. ʻO Trisomy ke ʻano o kekahi mea e like me "nā kino ʻekolu." Loaʻa i kekahi kanaka me Edwards Syndrome kahi kope ʻekolu o ka chromosome 18 i loko o kā lākou mau cell.

Pehea e ʻike ʻia ai ka Edwards Syndrome (Trisomy 18)?

Hoʻomaka pinepine ka nānā ʻana no ka Edwards Syndrome (Trisomy 18) i ka wā hāpai . Ua hōʻoia ʻia ka ʻike ma mua a ma hope paha o ka hānau ʻana o ka pēpē. E hana pinepine kāu kauka i kahi scan ultrasound e nānā i nā hōʻailona o Edwards Syndrome (Trisomy 18) ma ka nānā ʻana i ka neʻe ʻana o ka pēpē, ka nui o ka wai amniotic, a me ka nui o ka placenta. Inā loaʻa nā hōʻailona o kēia ʻano genetic, e paipai kāu kauka i ka hoʻāʻo hou aʻe e hōʻoia i ka ʻike.

He aha nā hoʻokolohua e hoʻohana ʻia e ʻike ai i ka Edwards Syndrome (Trisomy 18)?

I ka wā hāpai, inā hōʻike ka pēpē i nā hōʻailona o Edwards Syndrome (Trisomy 18), hiki i ke kauka ke kuhikuhi i nā hoʻokolohua like ʻole e hōʻoia i ka maʻi, e like me:

• Amniocentesis : Ma waena o 15 a me 20 mau pule o ka hāpai ʻana, e lawe kāu kauka i kahi laʻana liʻiliʻi o ka wai amniotic a hoʻāʻo iā ia e hoʻoholo i ke olakino o kāu pēpē.
• ʻO ka laʻana villus Chorionic (CVS) : Ma waena o 10 a me 13 mau pule o ka hāpai ʻana, lawe kāu kauka i kahi hāpana liʻiliʻi o nā cell mai ka placenta a hoʻāʻo iā lākou e ʻimi i nā kūlana genetic.
• Nā Nānā : Ma hope o 10 mau pule o ka hāpai ʻana, hiki ke hoʻāʻo ʻia kahi hāpana o kou koko e ʻike ai inā loaʻa i kāu pēpē nā kūlana chromosome keu maʻamau, e like me ka trisomy 18.

Ma hope o ka hānau ʻana o ke pēpē, e nānā ke kauka i ka puʻuwai o ke pēpē me kahi scan ultrasound, e ʻike i nā pilikia puʻuwai i hana ʻia e kēia hōʻailona, ​​a e hana i nā hana e mālama ai iā lākou.

Pehea e mālama ʻia ai ka Edwards Syndrome (Trisomy 18)?

I ka hapanui o nā hihia, ua koʻikoʻi loa kēia ʻano a hāʻawi ʻia nā pēpē i hānau ola ʻia i ka mālama hōʻoluʻolu.. , . , ‍ (Trisomy 18) ‍ , . ‍ (Trisomy 18) .

ʻO nā lāʻau lapaʻau no ka maʻi Edwards (Trisomy 18) e komo pū paha me:

• Lapaʻau no ka maʻi puʻuwai : ʻAneʻane pau nā pēpē me ka maʻi Edwards (Trisomy 18) i ka maʻi puʻuwai. ʻOiai ʻaʻole hiki i nā pēpē āpau ke hana ʻoki kino, hiki i kekahi.
• Kākoʻo hānai : ʻO nā pēpē me ka maʻi Edwards (Trisomy 18) e loaʻa paha ka paʻakikī i ka ʻai maʻamau ma muli o ka lohi o ka ulu ʻana. Pono paha lākou e hānai ʻia ma o kahi ʻōmole hānai e kōkua i nā pilikia hānai i ka wā ʻōpiopio o ke ola.
• Lapaʻau Orthopedic : Hiki i nā pēpē me ka Edwards syndrome (Trisomy 18) ke loaʻa nā pilikia kua, e like me ka scoliosis. Hiki i kēia ke hoʻopilikia i ka neʻe ʻana o ka pēpē. Hiki i ka lāʻau Orthopedic ke komo pū me ke kākoʻo ʻana a i ʻole ke ʻoki ʻana.
• Kākoʻo noʻonoʻo a me ka nohona : ʻO ka loaʻa ʻana o kahi pēpē me Edwards Syndrome (Trisomy 18) e pono ai ke kākoʻo nou, kou ʻohana, a me kāu pēpē. Pono ʻoe i ke kākoʻo e hoʻomanawanui i ke kaumaha o ka nalowale ʻana o kāu pēpē, ʻoiai inā nalowale kāu pēpē, a i ʻole e hoʻomanawanui i ka maʻi paʻakikī o kāu pēpē.

Pehea e hiki ai iaʻu ke hōʻemi i ka pilikia o ka loaʻa ʻana o ka Edwards Syndrome (Trisomy 18) i kaʻu pēpē?

‍ (Trisomy 18) ‍ , ‍ . , (`(in vitro fertilization - IVF)`) (`(preimplantation genetic testing)`) , ‍ (Trisomy 18) . , ‍ (genetic counseling) .

He aha ka mea e hana ai inā loaʻa iā ʻoe kahi keiki me ka Edwards Syndrome (Trisomy 18)?

ʻAʻohe lāʻau lapaʻau no ka Edwards Syndrome (Trisomy 18). Hoʻopau ka hapa nui o nā hāpai ʻana i ka hāʻule ʻana o ka manawa a i ʻole ka hānau make ʻana . No nā hāpai e ola ana a hiki i ke kolu o ka trimester, ma kahi o 40% o nā pēpē me Edwards Syndrome (Trisomy 18) ʻaʻole ola i ka hānau ʻana, a ma kahi o hoʻokahi hapakolu o ka poʻe i ola ua hānau mua ʻia.

ʻO ka nui o ke ola no nā pēpē i hānau ʻia me Edwards Syndrome (Trisomy 18) penei:

• Ma waena o 60% a me 75% e ola i ka pule mua.
• Ma waena o 20% a me 40% e ola i ka malama mua.
• ʻAʻole ʻoi aku ma mua o 10% e hoʻolauleʻa i ko lākou lā hānau mua.

Pono nā pēpē i hānau ʻia me Edwards Syndrome (Trisomy 18) i ka mālama kūikawā ma hope koke iho o ka hānau ʻana, i hana ʻia no ko lākou mau hōʻailona kikoʻī.He haʻahaʻa loa nā manawa e ola ai, ʻoiai inā ua lohi ka ulu ʻana o nā kino o ke pēpē a i ʻole he kīnā puʻuwai hānau. Ma waena o ka 10% e ola ana i ko lākou lā hānau mua, ola kekahi mau keiki i nā ola piha me ke kākoʻo nui mai ko lākou ʻohana a me nā mea mālama. Akā, ʻaʻole pinepine lākou e aʻo e hele a kamaʻilio paha.

Āhea wau e ʻike ai i ke kauka?

Ke loaʻa kahi pēpē me ka Edwards syndrome (Trisomy 18) i loko o ka ʻōpū, aia kahi pilikia o ka hāʻule ʻana o ka hāpai keiki a i ʻole ka nalowale o ka hāpai ʻana. Inā hāpai ʻoe, e ʻike koke i ke kauka inā loaʻa iā ʻoe nā hōʻailona o ka hāʻule ʻana o ka hāpai keiki :

• ʻeha ka ʻōpū.
• Inā ʻoe e anu a loaʻa i ke kuni.
• ʻEha hope.
• Inā ʻoi aku kou kahe ʻana o ke koko ma mua o ka maʻamau (ke kahe ʻana o ke koko nui).
• ʻEha o ka ʻōpū haʻahaʻa.

Āhea wau e hele ai i ka lumi pilikia?

Inā loaʻa i kāu pēpē i hānau ʻia me Edwards Syndrome (Trisomy 18) kekahi o kēia mau hōʻailona, ​​e lawe koke iā ia i ka lumi pilikia, a i ʻole e kelepona iā 1990 :

• Inā ʻoe e hanu wikiwiki loa ana a lohi paha, a i ʻole ʻaʻole hanu iki.
• Inā polū a poni paha ka ʻili a i ʻole nā ​​lehelehe.
• Inā wikiwiki loa ka puʻuwai.
• Inā paʻakikī ke ʻai.
• Inā pehu ke kino holoʻokoʻa.

He aha nā nīnau e pono iaʻu e nīnau aku i kaʻu kauka?

Ma kēia kūlana, nui paha kāu mau nīnau. E nīnau i kāu kauka e pili ana i nā mea e like me:

• "He aha koʻu mau pilikia o ka loaʻa ʻana o kahi keiki me kahi maʻi hoʻoilina?"
• "He aha nā lāʻau lapaʻau e hiki ke hāʻawi ʻia no nā hōʻailona o kaʻu pēpē?"
• "He aha kaʻu e hana ai e hōʻoia i ke olakino o kaʻu pēpē i ka wā hāpai?"

Hiki ke paʻakikī loa ka ʻike ʻana i ka Edwards Syndrome (Trisomy 18). Hiki ke kaumaha nā pilikia e hele mai me kēia ʻano. E kōkua kāu kauka iā ʻoe a me kou ʻohana ma o kēia huakaʻi , inā paha e pili ana i ka ʻike ʻana o kāu pēpē a i ʻole ke kūpaʻa ʻana i ka nalowale o kāu pēpē. Inā ʻoe e hoʻolālā ana e hāpai, e kamaʻilio me kāu kauka e pili ana i ke aʻo ʻana i ka genetic e aʻo e pili ana i kou pilikia o ka loaʻa ʻana o kahi pēpē me kahi ʻano genetic.

Nā mea nui e hoʻomanaʻo (Leka Lawe-Home)

ʻAe, eia kekahi o nā mea a mākou i kamaʻilio ai aʻu e manaʻo nei he mea nui iā ʻoe:

• ʻO ka Edwards Syndrome, a i ʻole Trisomy 18, he maʻi genetic koʻikoʻi .
• Hana ʻia kēia e kahi kope keu o ka chromosome 18. He mea kūlike kēia, ʻaʻole hewa nā mākua.
• Hiki ke ʻike ʻia kēia ma o nā scan a me nā hoʻokolohua kūikawā ʻē aʻe (`(Amniocentesis)`, `(CVS)`) i hana ʻia i ka wā hāpai.
• ʻAʻohe lāʻau lapaʻau no kēia maʻi, ke kuhikuhi nei ka lāʻau lapaʻau i ka kaohi ʻana i nā hōʻailona a me ka hōʻoluʻolu ʻana i ka pēpē.
• ʻAʻole ola lōʻihi nā pēpē he nui , akā ola kekahi mau keiki me ke aloha a me ke kākoʻo o ko lākou mau ʻohana.
• Inā hāpai ʻoe aInā ʻoe e hōʻike ana i nā hōʻailona o ka hāʻule ʻana o ka ʻōpū, e ʻimi koke i ke kōkua lapaʻau.
• Inā ua ʻike ʻia ʻoe me kēia maʻi, ʻaʻole ʻoe hoʻokahi . E kiʻi i ke kōkua mai nā kauka, ka ʻohana, a me nā lawelawe aʻoaʻo.

Manaʻolana wau he kōkua kēia ʻike iā ʻoe. He paʻakikī ke kamaʻilio e pili ana i ia mau kumuhana koʻikoʻi, akā he mea kūpono ke makaʻala.

ʻO Edwards Syndrome, Trisomy 18, Nā Maʻi Genetic, Chromosomes, Hāpai Keiki, Ola Kino o ka Pēpē, Nā Kīnā Hānau