Trisomy 18

ʻO Trisomy 18 kahi maʻi maʻi a kahi kanaka i kahi kope ʻekolu o nā mea mai ka chromosome 18, ma kahi o nā kope 2 maʻamau. ʻAʻole hoʻoili ʻia ka hapa nui o nā hihia ma o nā ʻohana. Akā, ʻo nā pilikia e alakaʻi i kēia ʻano i loko o ka sperm a i ʻole ka hua manu e hana i ka fetus.

Kū ʻo Trisomy 18 i 1 i 6000 hānau hānau. He 3 manawa pinepine ia i nā kaikamahine ma mua o nā keikikāne.

Kū ka maʻi maʻi ke loaʻa nā mea keu mai ka chromosome 18. Hoʻopili ka mea keu i ka hoʻomohala maʻamau.

• Trisomy 18: ke alo o kahi keu (kolu) chromosome 18 i nā keena āpau.
• Mosaic trisomy 18: ke kū ʻana o kahi keu chromosome 18 i kekahi o nā hunaola.
• Partis trisomy 18: ke kū ʻana o kahi ʻāpana o kahi keu chromosome 18 i nā keena.

ʻO ka hapa nui o nā hihia o Trisomy 18 ʻaʻole i hoʻoili ʻia e nā ʻohana (hoʻoilina). Akā, ʻo nā hanana i alakaʻi i ka trisomy 18 hiki i ka sperm a i ʻole ka hua manu i hana i ka fetus.

Pākuʻi ʻia paha nā ʻōuli:

• Nā lima paʻa
• Nā wāwae wāwae
• Nā wāwae me ka poepoe o lalo (nā wāwae rocker-lalo)
• Kaumaha hānau haʻahaʻa
• Nā pepeiao hoʻohaʻahaʻa
• Hoopanee ka noʻonoʻo
• Nā manamana lima maikaʻi ʻole i hoʻomohala ʻia
• ʻO ke poʻo liʻiliʻi (microcephaly)
• Kaʻi liʻiliʻi (micrognathia)
• Kaha hōʻikeʻike ʻole
• ʻO ka umauma ʻano ʻole (pectus carinatum)

Hōʻike kahi hōʻike i ka wā o ka hāpai ʻana i kahi kōpū nui nui a me ka wai amniotic keu. Hiki paha i kahi placenta liʻiliʻi liʻiliʻi ke hānau ʻia ka pēpē. Hōʻike kahi hōʻike kino o ke pēpē i nā hiʻohiʻona helehelena ʻokoʻa a me nā mana manamana lima. Hōʻike paha nā kukuna X i kahi iwi umauma pōkole.

E hōʻike ana nā haʻawina Chromosome i ka trisomy 18. Loaʻa paha ka hewa o ka chromosome i kēlā me kēia keena a i ʻole ma kahi o kahi pākēneka o nā hunaola (i kapa ʻia ʻo mosaicism). Hōʻike kekahi i nā noiʻi i kahi ʻāpana o ka chromosome i kekahi mau hunaola. Kākaʻikahi, hoʻopili ʻia kahi ʻāpana o ka chromosome 18 i kekahi chromosome ʻē aʻe. Kapa ʻia kēia translocation.

ʻO nā hōʻailona ʻē aʻe:

• Hole, hoʻokaʻawale, a i ʻole kīkaha i ka iris o ka maka (coloboma)
• Hoʻokaʻawale ma waena o ka hema a me ka ʻaoʻao ʻākau o ka ʻōpū o ka ʻōpū (diastasis recti)
• Hnia hernia a i ʻole hernia inguinal

Aia kekahi mau hōʻailona o ka maʻi puʻuwai congenital, e like me:

• Hewa septal Atrial (ASD)
• Patent ductus arteriosus (PDA)
• Hewa septal Ventricular (VSD)

Hōʻike paha nā hōʻike i nā pilikia ʻōpū, me:

• Kahiko holo lio
• ʻO Hydronephrosis
• ʻO ke kīʻaha Polycystic

ʻAʻohe mālama kūikawā no trisomy 18. ʻO nā ʻano hana i hoʻohana ʻia e kaukaʻi ʻia i ke ʻano o kēlā me kēia kanaka.

ʻO nā hui kākoʻo pū kekahi:

• Kākoʻo Hui no Trisomy 18, 13 a me nā maʻi e pili pū ana (SOFT): trisomy.org
• Trisomy 18 Foundation: www.trisomy18.org
• Hope no Trisomy 13 a me 18: www.hopefortrisomy13and18.org

ʻAʻole ola kahi hapalua o nā pēpē me kēia ʻano ma ʻō aku o ka pule mua o ke ola. ʻEiwa o nā keiki he ʻumi e make i ka makahiki 1. Ua ola kekahi mau keiki i nā makahiki ʻōpio, akā me nā pilikia koʻikoʻi olakino a me nā ulu ulu.

Pili nā pilikia ma luna o nā kikoʻī kikoʻī a me nā ʻōuli.

Komo pū nā pilikia:

• Ka pilikia o ka hanu a me ka ʻole o ka hanu ʻana (apnea)
• Kuli ke kuli
• Nā pilikia hānai
• Hewa puʻuwai
• Ka hopu ʻana i nā maʻi
• Nā pilikia ʻike

Hiki i nā ʻōlelo aʻoaʻo genetic ke kōkua i ka ʻohana e hoʻomaopopo i ke ʻano, nā pilikia o ka hoʻoili ʻana iā ia, a pehea e mālama ai i ke kanaka.

Hiki i nā hoʻokolohua ke hana i ka wā o ka hāpai ʻana e ʻike inā loaʻa i kēia keiki kēia maʻi maʻi.

Paipai ʻia ka ʻōlelo aʻoaʻo genetic no nā mākua i loaʻa kahi keiki me kēia maʻi a makemake e loaʻa nā keiki hou aʻe.

Edwards maʻi maʻi

• Syndactyly

Bacino CA, Lee B. Cytogenetics. I: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. ʻO Puka Textbook of Pediatrics ʻo Nelson. 21st ed. Piladelapia, PA: Elsevier; 2020: chap 98.

ʻO Madan-Khetarpal S, ʻo Arnold G. Nā maʻi genetic a me nā kūlana dysmorphic. I: Zitelli BJ, McIntire SC, Nowalk AJ, eds. ʻO Zitelli lāua ʻo Davis 'Atlas o ka Pediatric Physical Diagnosis. ʻEpekema 7 Piladelapia, PA: Elsevier; 2018: chap 1.