Mea Kākau: Marcus Baldwin
Lā O Ka Hana: 17 Iune 2021
HōʻAno Hou I Ka Lā: 1 Iulai 2024
Anonim
Advanced prenatal genetic testing
Wikiō: Advanced prenatal genetic testing

Anter

He aha kahi hōʻike karyotype?

Nānā kahi hōʻike karyotype i ka nui, ke ʻano, a me ka helu o kāu chromosome. ʻO nā Chromosome nā ʻāpana o kāu mau pūnaewele i loaʻa i kāu mau ʻāpana. ʻO nā ʻāpana nā ʻāpana o ka DNA i hoʻoili ʻia mai kou makuahine a me kou makuakāne. Hāpai lākou i ka ʻike e hoʻoholo ai i kāu ʻano kū hoʻokahi, e like me ke kiʻekiʻe a me ke kala o ka maka.

Loaʻa i nā kānaka he 46 chromosome, i mahele ʻia i 23 mau pālua, i kēlā me kēia cell. ʻO kekahi o kēlā me kēia pālua chromosome mai kou makuahine, a ʻo kekahi mau mea ʻelua mai kou makuakāne mai.

Inā he ʻoi aku a ʻoi aku paha kāu mau chromosome ma mua o 46, a i ʻole inā ʻaʻohe mea ʻē aʻe e pili ana i ka nui a i ʻole ke ʻano o kāu chromosome, hiki iā ia ke manaʻo he maʻi maʻi kāu. Hoʻohana pinepine ʻia kahi hōʻike karyotype e kōkua i ka ʻike ʻana i nā kīnā o ke kāne i ka pēpē e ulu ana.

Nā inoa ʻē aʻe: ka hoʻāʻo genetic, ka hoʻokolohua chromosome, nā chromosome haʻawina, ka hoʻokolohua cytogenetic

No ke aha ia e hoʻohana ai?

E hoʻohana ʻia kahi hōʻike karyotype i:

  • E nānā i kahi pēpē i hānau ʻole ʻia no nā maʻi maʻi
  • Kuhi i kahi maʻi maʻi i loko o kahi pēpē a keiki ʻōpio paha
  • E ʻike inā ke pale nei kahi hemahema chromosomal i ka wahine mai ka hāpai ʻana a i ʻole ke kumu no ka hāpai keiki ʻana
  • E nānā i kahi pēpē i hānau ʻia (kahi pēpē i make i ka hopena o ka hāpai ʻana a i ʻole i ka wā hānau) e ʻike ai inā he kīnā chromosomal ke kumu o ka make
  • E ʻike inā loaʻa ʻoe i kahi maʻi genetical i hiki ke hoʻoili ʻia i kāu poʻe keiki
  • Kuhi a hana i kahi papa hana no kekahi ʻano maʻi ʻaʻai a me nā maʻi koko

No ke aha wau e pono ai i kahi hōʻike karyotype?

Inā hāpai ʻoe, makemake paha ʻoe e hoʻāʻo i kahi hōʻike karyotype no kāu pēpē i hānau ʻole ʻia inā loaʻa iā ʻoe kekahi mau ʻano pilikia. Pākuʻi ʻia kēia mau mea:


  • Kou makahiki. Heʻuʻuku ka nui o ka pilikia o ka hānau hānau ʻōpiko, akā ʻoi aku ka kiʻekiʻe o ka makaʻu no nā wahine i loaʻa nā pēpē i ka makahiki 35 a ʻoi paha.
  • Mōʻaukala ʻohana. Hoʻonui ʻia kou makaʻu inā ʻo ʻoe, kāu ipo, a me / a i ʻole kekahi o kāu mau keiki i loaʻa i kahi maʻi genetical.

Pono paha kāu pēpē a keiki ʻōpio paha i kahi hoʻokolohua inā loaʻa iā ia nā hōʻailona o ka maʻi genetical. Nui a hewahewa nā ʻano genetics, kēlā me kēia me nā ʻōuli ʻokoʻa. Hiki iā ʻoe a me kāu kahu mālama olakino ke kamaʻilio e pili ana inā e paipai ʻia ka hoʻāʻo.

Inā he wahine ʻoe, pono paha ʻoe i kahi hoʻokolohua karyotype inā ua loaʻa ka pilikia i ka hāpai ʻana a i ʻole i loaʻa i kekahi mau hānau pono ʻole. ʻOiai ʻaʻole maʻamau kahi hāʻule hoʻokahi, inā ʻoe i loaʻa he mau, no ka pilikia chromosomal paha ia.

Hiki paha iā ʻoe ke hoʻāʻo i kahi karyotype inā ʻoe he mau ʻōuli o a i ʻole ua ʻike ʻia me ka leukemia, lymphoma, a me myeloma paha, a i ʻole kekahi ʻano anemia. Hiki i kēia mau maʻi ke hoʻololi i nā chromosomal. Hiki ke kōkua i ka loaʻa ʻana o kēia mau hoʻololi i kāu mea hoʻolako e ʻike pono i ka maʻi, nānā, a me / a i ʻole mālama i ka maʻi.


He aha ka hana i ka wā o kahi hōʻike karyotype?

No kahi hōʻike karyotype, pono kāu mea hāʻawi e lawe i kahi laʻana o kāu mau pūnaewele. ʻO nā ala maʻamau e kiʻi i kahi laʻana me:

  • He hoʻāʻo koko. No kēia ho'āʻo, e lawe kahi loea mālama ola i kahi laʻana koko mai kahi aa i kou lima, e hoʻohana ana i kahi nila liʻiliʻi. Ma hope o ka hoʻokomo ʻia ʻana o ka nila, e hōʻiliʻili ʻia kahi koko liʻiliʻi i loko o kahi pahu hoʻāʻo a ipu paha. Hiki paha iā ʻoe ke ʻoni iki i ka wā e hele ai a kuʻi paha ka nila. Lōʻihi kēia ma mua o ʻelima mau minuke.
  • ʻO ka hoʻāʻo Prenatal me ka amniocentesis a i ʻole chorionic villus sampling (CVS). ʻO Chorionic villi kahi ulu liʻiliʻi i loaʻa i ka placenta.

No ka amniocentesis:

  • E moe ʻoe ma kou kua ma kahi papa hōʻike.
  • E neʻe kāu mea hāʻawi i kahi mea ultrasound ma luna o kou ʻōpū. Hoʻohana ka ultrasound i nā nalu kani e nānā i ke kūlana o kou kōpū, placenta, a me kāu pēpē.
  • E hoʻokomo kāu mea hāʻawi i kahi kui kele i loko o kou ʻōpū a huki i kahi liʻiliʻi o ka wai amniotic.

Hana pinepine ʻia ka amniocentesis ma waena o ka pule 15 a me 20 o ka hāpai keiki.


No CVS:

  • E moe ʻoe ma kou kua ma kahi papa hōʻike.
  • E neʻe kāu mea hāʻawi i kahi mea ultrasound ma luna o kou ʻōpū e nānā i ke kūlana o kou kōpū, placenta, a me kāu pēpē.
  • E hōʻiliʻili kāu mea i nā hunaola mai ka placenta ma kekahi o nā ala ʻelua: ma o kāu cervix me kahi paipu lahilahi i kapa ʻia he catheter, a i ʻole me ka nila nīnū ma o kou ʻōpū.

Hana pinepine ʻia ʻo CVS ma waena o ka pule 10 a me 13 o ka hāpai keiki.

ʻO Bope Marrow Aspiration a me Biopsy. Inā hoʻāʻo ʻia ʻoe a mālama ʻia paha no kekahi ʻano maʻi ʻaʻai a maʻi maʻi koko paha, pono paha kāu mea hāʻawi e lawe i kahi laʻana o kou iwi iwi. No kēia hōʻike:

  • E moe ʻoe ma kou ʻaoʻao a i ʻole kou ʻōpū, kaukaʻi ʻia i ka iwi hea e hoʻāʻo ai. Lawe ʻia ka hapa nui o nā hoʻā o ka iwi iwi mai ka iwi iwi.
  • E hoʻomaʻemaʻe ka pūnaewele me kahi antiseptic.
  • E loaʻa ʻoe i ka ʻoki o kahi hopena numbing.
  • Ke pulu ka ʻāpana, e lawe ka mea mālama ola i kahi laʻana.
  • No ka makemake o ka iwi iwi, ka mea e hana mau ʻia ma mua, e hoʻokomo ka mea mālama ola i kahi nila ma o ka iwi a huki i ka wai iwi momona a me nā hunaola. Hiki paha iā ʻoe ke ʻeha a ʻeha pōkole hoʻi ke hoʻokomo ʻia ka nila.
  • No kahi biopsy iwi pū, e hoʻohana ka mea mālama ola i kahi pono hana e wili i loko o ka iwi e lawe i kahi hāpana o ka iwi pūpū iwi. ʻIke paha ʻoe i kekahi kaomi ma ka pūnaewele ʻoiai e lawe ʻia nei kahi laʻana.

Pono wau e hana i kekahi mea e hoʻomākaukau ai no ka hoʻāʻo?

ʻAʻole pono ʻoe i kahi hoʻomākaukau kūikawā no ka hoʻāʻo ʻana i ka karyotype.

Aia kekahi mau pilikia i ka hoʻāʻo?

ʻAʻohe liʻiliʻi loa i ka hōʻoia ʻana o ke koko. Loaʻa paha iā ʻoe ka ʻeha a ʻeha paha ma kahi o ka nila i hoʻokomo ʻia ai, akā ʻo ka hapa nui o nā ʻōuli e hele wikiwiki aku.

Amniocentesis a me CVS nā hoʻāʻo he ʻano palekana loa nā kaʻina hana, akā he pilikia iki ko lākou no ka hānau ʻana. E kamaʻilio me kāu mea mālama ola e pili ana i nā pilikia a me nā pōmaikaʻi o kēia mau hoʻāʻo.

Ma hope o ka hoʻāʻo ʻana o ka iwi iwi a me ka hōʻike biopsy, ʻike paha ʻoe he ʻoʻoleʻa a ʻeha paha ma ka pūnaewele injection. Hele maʻamau kēia i kekahi mau lā. Koi aku kāu kauka olakino iā ʻoe a kauoha paha i kahi mea kōkua ʻeha e kōkua.

He aha ke ʻano o nā hopena?

Inā kūleʻa kāu mau hopena (ʻaʻole maʻamau,) ʻo ia hoʻi ʻo ʻoe a ʻo kāu keiki ʻoi aku a i ʻole 46 mau chromosome, a i ʻole he mea ʻē aʻe e pili ana i ka nui, ke ʻano, a me ke ʻano o hoʻokahi a ʻoi aku o kāu chromosome. Hiki i nā chromosome maʻamau ke hana i nā ʻano olakino like ʻole. Pili nā ʻōuli a me ke koʻikoʻi i nā chromosome i hoʻopili ʻia.

ʻO kekahi mau maʻi i hoʻokumu ʻia e nā kīnā chromosomal:

  • Down syndrome, kahi maʻi e hōʻeha ai i nā kīnā ʻole o ka ʻike a me nā lohi hoʻomohala
  • Edwards maʻi, kahi maʻi e kumu ai nā pilikia nui i ka puʻuwai, nā mumū, a me nā puʻupaʻa
  • ʻO Turner Syndrome, kahi maʻi i nā kaikamahine e hoʻopili i ka ulu ʻana o nā ʻano wahine

Inā ua hoʻāʻo ʻia ʻoe no ka mea he ʻano maʻi ʻaʻai ʻoe a i ʻole maʻi maʻi koko, hiki i kāu mau hopena ke hōʻike inā i loaʻa ʻia kāu ʻano e kahi kīnā chromosomal. Hiki i kēia mau hopena ke kōkua i kāu mea mālama ola e hana i kahi hoʻolālā lapaʻau maikaʻi loa nāu.

E aʻo hou aʻe e pili ana i nā hoʻokolohua hoʻokolohua, nā pae kuhikuhi, a me ka hoʻomaopopo ʻana i nā hopena.

Aia kekahi mea ʻē aʻe e pono iaʻu e ʻike e pili ana i kahi hōʻike karyotype?

Inā ʻoe e noʻonoʻo e pili ana i ka hoʻāʻo ʻana a i ʻole loaʻa nā hopena maikaʻi ʻole ma kāu hōʻike karyotype, kōkua paha ia e ʻōlelo i kahi kākāʻōlelo.He loea aʻoaʻo aʻo loea kūikawā i ka genetics a me ka hoʻāʻo genetic. Hiki iā ia ke wehewehe i ke ʻano o kāu mau hopena, kuhikuhi iā ʻoe e kākoʻo i nā lawelawe, a kōkua iā ʻoe e hoʻoholo kūpono e pili ana i kou olakino a i ʻole ke olakino o kāu keiki.

Nā kūmole

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ʻAʻole pono e hoʻohana i ka ʻike ma kēia pūnaewele i pani no ka mālama olakino ʻoihana a ʻōlelo aʻoaʻo paha. Kāhea aku i ka mea mālama ola inā he nīnau kāu e pili ana i kou olakino.

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