Ke hopohopo nei ʻoe no ke olakino o kāu pēpē? A laila pono ʻoe e ʻike e pili ana i ka NIPT (Noninvasive Prenatal Testing)!

ʻOiai ke manaʻo nei ʻoe e lilo i makuahine, pono ʻoe e noʻonoʻo nui e pili ana i ke olakino o ʻoe iho a me kāu keiki liʻiliʻi i loko o kou ʻōpū, ʻeā? No laila i kēia lā e kamaʻilio mākou e pili ana i kahi hoʻokolohua kūikawā hiki ke hana ʻia i ka wā hāpai. Ua kapa ʻia kēia ʻo NIPT (Noninvasive Prenatal Testing). Hiki iā ʻoe ke aʻo i kekahi ʻike koʻikoʻi e pili ana i ke olakino o kāu pēpē me ka ʻole o ka hōʻeha iā ʻoe a i ʻole ke pēpē.

He aha ka NIPT (Noninvasive Prenatal Testing)?

I ka ʻōlelo maʻalahi, ʻo NIPT kahi hoʻāʻo i hana ʻia i kou wā hāpai e ʻike inā loaʻa i kāu pēpē i hānau ʻole ʻia kekahi mau maʻi chromosomal . No ka laʻana, nānā ia no ka pilikia o nā kūlana e like me Down syndrome ( Trisomy 21) , Trisomy 18 ( Edwards syndrome) , a me Trisomy 13 (Patau syndrome) . Hiki iā ia ke haʻi iā ʻoe i ke kāne o kāu pēpē.

Hana ʻia kēia me kahi hāpana koko i lawe ʻia mai ou aku. Mai kahaha, aia i loko o kou koko kahi liʻiliʻi loa o ka DNA o kāu pēpē (Deoxyribonucleic Acid) . ʻO ka DNA ka mea i hana ʻia ai kā mākou mau genes a me nā chromosomes. Ua like ia me ke kiʻi o ko mākou kino. No laila, ma ka hoʻāʻo ʻana i kēia mau ʻāpana DNA hiki i nā kauka ke loaʻa kahi manaʻo o ka ʻike genetic o ka pēpē. Hoʻouna ʻia kēia hāpana koko i kahi lab no ka hoʻāʻo ʻana. Akā e hoʻomanaʻo, ʻaʻole hiki i ka NIPT ke ʻike i kēlā me kēia chromosome a i ʻole ke kūlana genetic.

Ua kapa ʻia kēia hoʻāʻo NIPT ma nā inoa ʻē aʻe. Kapa kekahi iā ia he cell-free DNA screening a i ʻole cfDNA screening . Kapa kekahi iā ia he non-invasive prenatal screening a i ʻole NIPS . Mai hopohopo inā lohe ʻoe i kēia mau inoa, he hoʻāʻo like lākou a pau.

He mea nui loa ia e hoʻomaopopo he hoʻāʻo nānā kēia, ʻaʻole he hoʻāʻo hōʻoia . ʻO ke ʻano kēia, haʻi wale ia iā ʻoe i ka likelike a i ʻole ka paʻakikī o kāu keiki e loaʻa i kahi maʻi. ʻAʻole hiki iā ia ke ʻōlelo maopopo, 'ʻAe, loaʻa i kāu keiki kēia maʻi' a i ʻole 'ʻAʻole, ʻaʻohe o kāu keiki kēia maʻi.'

ʻO kāu hoʻoholo wale nō inā ʻoe e koho i ka hoʻāʻo NIPT. E hāʻawi kāu kauka iā ʻoe i ka ʻike e pili ana i kēia a kōkua iā ʻoe e hana i ka hoʻoholo maikaʻi loa nāu.

He aha ka mea e nānā ai ka hoʻāʻo NIPT?

E like me kā mākou i ʻōlelo ai ma mua, ʻaʻole hiki i ka NIPT ke ʻike i nā kūlana chromosomal āpau a i ʻole nā ​​​​maʻi hānau. I ka hapa nui o nā hihia, ʻimi nā hoʻokolohua NIPT i:

• ʻO ka maʻi Down (Trisomy 21)
• Trisomy 18
• ʻO Trisomy 13
• Nā mea ʻē e pili ana i nā chromosomes sex (X a me Y)

ʻO ka Down syndrome, trisomy 18, a me trisomy 13 i hoʻokumu ʻia e kahi chromosome keu. Hiki i ka hoʻāʻo ʻana i ka chromosome sex ke hoʻoholo i ke kāne o ka pēpē a hiki ke nānā i nā loli i ka helu maʻamau o nā chromosome sex. ʻO nā kūlana chromosome sex maʻamau e komo pū me ka Turner syndrome , Klinefelter syndrome , Triple X syndrome, a me XYY syndrome . E hoʻomanaʻo naʻe, ʻaʻole ʻike nā hoʻokolohua NIPT āpau i kēia mau kūlana āpau. No laila he mea nui e kamaʻilio me kāu kauka e pili ana i ka mea a kāu hoʻokolohua NIPT e ʻimi ai.

No ke aha i hana ʻia ai kēia hoʻāʻo NIPT? No wai ka mea maikaʻi loa?

Kōkua ʻo NIPT i ka hoʻoholo ʻana i ka pilikia o ka hānau ʻia ʻana o kahi pēpē me kahi ʻano chromosomal. Hiki i nā kauka ke ʻōlelo i kēia hoʻāʻo ma nā kūlana aʻe:

• Inā he keiki kāu me kahi maʻi chromosomal.
• Inā ua hōʻike ʻia kahi scan ultrasound he loaʻa paha i ke keiki kekahi mau ʻano ʻē.
• Inā ua loaʻa iā ʻoe kahi hoʻokolohua loiloi ma mua i hōʻike ʻia he pilikia paha.

Ua ʻōlelo mua ke Kulanui ʻAmelika o nā Kauka Lapaʻau a me nā Kauka Lapaʻau (ACOG) i ka NIPT inā loaʻa iā ʻoe kahi hāpai pilikia kiʻekiʻe . ʻO ia hoʻi, inā paha, inā ʻoe ma luna o 35, a inā paha ua loaʻa i kekahi o kou ʻohana kekahi o kēia mau kūlana. Akā i kēia manawa ke ʻōlelo nei lākou e hoʻomaopopo ʻia nā wahine hāpai āpau, me ka nānā ʻole i ka pilikia, e pili ana i ka NIPT a hāʻawi ʻia i ka manawa kūpono e loaʻa ai.

Ma muli o nā hopena o ka hoʻāʻo NIPT, hiki i kāu kauka hānau ke ʻōlelo aku i nā hoʻokolohua diagnostics . E like me kā mākou i ʻōlelo ai ma mua, ʻo ka hoʻāʻo screening wale nō e haʻi iā ʻoe i ka hiki. ʻO ka hoʻāʻo diagnostic ka mea hiki ke hāʻawi i kahi pane 'ʻae' a 'ʻaʻole' paha inā he maʻi kāu pēpē.

I ka manawa hea e hana ʻia ai ka hoʻāʻo NIPT i ka wā hāpai?

Hana pinepine ʻia ka hoʻāʻo NIPT ma hope o 10 mau pule o ka hāpai ʻana, akā hiki ke hana ʻia i kēlā me kēia manawa a hiki i ka hānau ʻana o ka pēpē . ʻO ka hapa nui, ʻaʻole ia e hana ʻia ma mua o 10 mau pule. ʻO kēia no ka mea ʻaʻole lawa ka DNA fetal i loko o ke koko o ka makuahine ma mua o kēlā manawa e hana pololei ai i ka hoʻāʻo.

Pehea ka pololei o nā hoʻokolohua NIPT?

He nīnau kēia a ka poʻe he nui e nīnau ai. ʻO ka pololei o ka hoʻāʻoAia nō ia i ke ʻano o ka maʻi e hoʻāʻo ʻia nei. Eia kekahi, ʻo nā mea e like me ke kali ʻana i nā māhoe, inā ʻoe e hāpai ana i kahi pēpē no kekahi (hapi hāpai pani), a inā momona ʻoe hiki ke hoʻopilikia i nā hopena NIPT.

ʻO ka NIPT ma kahi o 99% ka pololei i ka ʻike ʻana i ka Down syndrome. ʻAʻole paha i pololei iki i ka ʻike ʻana i nā trisomies 18 a me 13. Ma keʻano holoʻokoʻa, ʻoi aku ka liʻiliʻi o nā hopena wahaheʻe o ka NIPT ma mua o nā hoʻokolohua nānā prenatal ʻē aʻe, e like me ka quad screen. ʻO ke ʻano kēia, ʻoi aku ka liʻiliʻi o ka hiki ke hāʻawi i kahi hopena wahaheʻe ke ʻole ka pēpē i hoʻopilikia ʻia.

Hiki i ka hoʻāʻo NIPT ke hoʻoholo i ke kāne o ka pēpē?

ʻAe, hiki i ka hoʻāʻo NIPT ke wānana i ke kāne o ka ʻōpū. Nui nā mākua e makemake nui e ʻike i kēia, ʻeā?

Pono anei e loaʻa kahi hoʻāʻo NIPT i ka wā hāpai?

ʻAʻole, ʻaʻole kēia he mea koi. He hoʻoholo pilikino wale nō kēia. He mea maʻamau ka loaʻa ʻana o nā nīnau e pili ana i kēia. E haʻi aku kāu kauka iā ʻoe e pili ana i nā koho nānā prenatal ʻē aʻe, me NIPT. Hiki i nā mea he nui ke hoʻopilikia i ka hoʻoholo e loaʻa iā NIPT. Inā pilikia ʻoe i ka hoʻoholo ʻana, a inā makemake ʻoe e kūkākūkā hou aku i kēia nānā ʻana, hiki i kahi kākāʻōlelo genetic ke wehewehe i kēia mau koho hoʻāʻo prenatal iā ʻoe a kōkua iā ʻoe e koho i ka mea kūpono loa iā ʻoe.

Pehea e hana ai nā kauka i kēia hoʻokolohua NIPT?

He mea maʻalahi loa kēia. ʻO ka hana wale nō a kāu kauka, ʻo ia ke lawe i kahi hāpana koko mai kahi aa koko ma kou lima . Hoʻouna ʻia kēia hāpana koko i kahi keʻena hoʻokolohua e nānā i nā ʻano ʻē i loko o ka DNA o ke pēpē.

Loaʻa iā kākou a pau ka DNA i loko o ko kākou mau pūnaewele. Ke māhele mau nei kēia mau pūnaewele a hana i nā pūnaewele hou. Ke haki nā pūnaewele, e pau nā ʻāpana liʻiliʻi o ka DNA (nā ʻāpana DNA) i loko o ko kākou koko. Ke hāpai ʻoe, e kaʻapuni ana kahi liʻiliʻi loa o ka DNA o kāu pēpē i loko o kou koko. Ua kapa ʻia kēia ʻo cell-free DNA, a i ʻole cfDNA . Nānā ka hoʻāʻo NIPT i nā ʻāpana o ka DNA o kāu pēpē i loko o kou koko.

He mea nui e hoʻomanaʻo he 10 mau pule ka lōʻihi o ka hōʻiliʻili ʻana o ka DNA o ka pēpē i loko o kou koko. ʻO ia ke kumu i hana ʻole ʻia ai kēia hoʻāʻo a hiki i ka 10 mau pule o ka hāpai ʻana.

Aia kekahi mau pilikia me ka hoʻāʻo NIPT?

He palekana loa nā hoʻokolohua NIPT. ʻAʻohe pilikia i ka pēpē. No ka mea, pono wale nō e lawe i kahi koko liʻiliʻi mai ka makuahine hāpai. No laila, ʻaʻohe mea e hopohopo ai.

Āhea e loaʻa ai iaʻu kaʻu mau hopena hoʻāʻo?

Hiki i kekahi manawa ke hala a ʻelua pule e loaʻa ai nā hopena o ka hōʻike NIPT.Hiki iā ʻoe ke hele. Akā aia kekahi mau manawa e loaʻa mua ai nā hopena. Loaʻa mua i kāu kauka nā hopena. A laila e hoʻomaopopo ʻo ia iā ʻoe i kēlā mau hopena.

He aha ka ʻōlelo a nā hopena hōʻike NIPT?

No ka mea, he hoʻāʻo nānā ʻo NIPT, ʻaʻole ia e hāʻawi i ka pane 'ʻae' a 'ʻaʻole' paha inā he maʻi kāu pēpē. Hōʻike nā hopena inā ua piʻi a emi paha ka pilikia o kāu pēpē i ka loaʻa ʻana o ke ʻano. Hiki i kekahi manawa ke paʻakikī iki ke hoʻomaopopo i kāu mau hopena hoʻāʻo. No laila, inā ʻaʻole ʻoe maopopo, e noi i kāu kauka no ka wehewehe ʻana.

Hāʻawi nā labs he nui i nā hopena like ʻole no kēlā me kēia kūlana a lākou e hoʻāʻo ai. No ka laʻana, loaʻa paha iā ʻoe kahi hopena maikaʻi (kiʻekiʻe ka pilikia) no Trisomy 13, akā he hopena maikaʻi ʻole (haʻahaʻa ka pilikia) no Down syndrome.

Eia kekahi, i kekahi manawa ʻaʻohe hopena no ka mea ʻaʻole lawa ka DNA o ka pēpē i loko o kou koko, a i ʻole ʻaʻole hiki ke ʻike pono ʻia ka DNA o ka pēpē. I kēlā hihia, hiki iā ʻoe ke hana hou i ka hoʻāʻo NIPT. I kēlā mau hihia, hiki i kāu kauka ke hāʻawi iā ʻoe i ke alakaʻi maikaʻi loa.

He aha inā he maikaʻi/kiʻekiʻe ka pilikia o nā hopena?

Inā hōʻike ka hoʻāʻo NIPT ua pilikia kāu pēpē i ka loaʻa ʻana o kahi ʻano chromosomal, hiki i kāu kauka ke ʻōlelo i ka hoʻāʻo diagnostic . Hiki i kēia mau hoʻāʻo ke ʻōlelo maopopo 'ʻae' a 'ʻaʻole' inā loaʻa kahi maʻi. ʻO kēia mau hoʻāʻo:

• Amniocentesis: Pili kēia i ka wehe ʻana i kahi liʻiliʻi o ka wai amniotic mai kou ʻōpū. Hiki ke hana ʻia kēia hoʻāʻo ma hope o 15 mau pule o ka hāpai ʻana.
• ʻO ka Chorionic Villus Sampling (CVS): Lawe kēia hoʻāʻo i kahi laʻana o nā cell mai ka placenta. Hoʻouna ʻia kēia laʻana cell i kahi lab no ka hoʻāʻo ʻana. Hiki ke hana ʻia kēia ma waena o 10 a me 13 mau pule o ka hāpai ʻana.

He mea nui loa ia e kamaʻilio pono me kāu kauka e pili ana i kāu mau hopena NIPT a loaʻa i ka ʻike āpau āu e pono ai e pili ana i ka mea e hana ai ma hope.

Hiki ke hewa ka hoʻāʻo NIPT no Down syndrome?

No ka mea, he hoʻāʻo nānā ʻo NIPT, ʻaʻole ia he 100% pololei. ʻO ia ke kumu a mākou e ʻōlelo nei he hōʻike wale ia i ka pilikia. No laila he mea nui e kamaʻilio me kāu kauka e aʻo hou e pili ana i kāu mau hopena a me kāu mau koho aʻe.

He mea kūpono anei ke kiʻi ʻana i ka hōʻike NIPT?

Na ʻoe e hoʻoholo inā e hana i kahi hoʻāʻo nānā prenatal e like me NIPT a i ʻole kekahi hoʻāʻo genetic ʻē aʻe. Hiki i kāu kauka ke pane i nā nīnau āu e loaʻa ai. Akā ʻo ka mea hope loa, na ʻoe e hoʻoholo pehea e hoʻopilikia ai kahi maʻi genetic a chromosomal paha iā ʻoe a me kou ʻohana, ma muli o kou kūlana kikoʻī.

E kōkua kēia mau nīnau iā ʻoe e hoʻoholo:

• Pehea koʻu manaʻo inā maikaʻi ka hopena o ka nānā ʻana?
• E mākaukau anei au e hana i nā hoʻokolohua diagnostic e like me ka amniocentesis a i ʻole CVS?
• Inā ʻike wau he maʻi hoʻoilina ko kaʻu keiki, a i ʻole aia paha i ka nui o ka pilikia no kahi maʻi hoʻoilina, e hana anei au i kekahi mau hoʻololi?
• E hoʻokaumaha a hopohopo paha ka ʻike ʻana i kēia ʻike iaʻu, a i ʻole e kōkua anei iaʻu e hoʻomākaukau no ka mālama ʻana i ka pēpē?
• E kōkua anei ka ʻike ʻana i kēia ʻike i kaʻu mau kauka e mālama pono i kaʻu keiki?

ʻEhia ke kumukūʻai o ka hōʻike NIPT?

Hiki ke ʻokoʻa ke kumukūʻai o ka hoʻāʻo ʻana o NIPT. Uhi ka hapa nui o nā ʻoihana ʻinikua olakino i ka hapa nui (a i ʻole nā ​​​​mea āpau) o kēia kumukūʻai. Uhi kekahi i kekahi. No laila he manaʻo maikaʻi e nānā me kāu ʻoihana ʻinikua ma mua o ka loaʻa ʻana o ka hoʻāʻo. Inā ʻaʻohe ou ʻinikua, a ʻaʻole uhi kāu ʻinikua i ka hoʻāʻo NIPT, hiki iā ʻoe ke uku no ia mea iā ʻoe iho.

Hiki ke hana ʻia ka NIPT i 14 mau pule?

ʻAe, hiki ke hana ʻia ka NIPT i kēlā me kēia manawa ma hope o 10 mau pule o ka hāpai ʻana. ʻO ia hoʻi, ʻaʻohe pilikia ʻoiai ma 14 mau pule.

He aha kaʻu e nīnau ai i kaʻu kauka e pili ana i ka hoʻāʻo NIPT?

He hoʻoholo pilikino ka loaʻa ʻana o kahi hoʻokolohua e like me NIPT. Loaʻa paha iā ʻoe nā nīnau e pili ana i ke ʻano o kāu mau hopena, a i ʻole inā pono ʻoe e loaʻa i ka hoʻokolohua NIPT. Mai makaʻu e nīnau i nā nīnau. E hoʻomanaʻo, ʻo ʻoe wale nō ke hoʻoholo i ka mea maikaʻi loa nou a me kou ʻohana.

Eia kekahi mau nīnau maʻamau hiki iā ʻoe ke nīnau i kāu kauka:

• Inā ʻo ʻoe wau, e loaʻa anei iā ʻoe ka hoʻāʻo NIPT?
• Inā maikaʻi kaʻu hoʻāʻo loiloi, he aha nā hana aʻe?
• Aia kekahi kākā'ōlelo genetic e kamaʻilio e pili ana i kaʻu mau koho?
• He aha ka likelika o nā hopena maikaʻi wahaheʻe?

E lawe i ka leka i ka home

ʻAe, no laila, ʻo ka hoʻāʻo NIPT kahi ʻano loiloi prenatal hilinaʻi loa e loiloi ana i ka pilikia o nā maʻi chromosomal i ka pēpē i hānau ʻole ʻia. Hiki i kēia hoʻāʻo ke hāʻawi i ka ʻike e pili ana i ke kāne o ka pēpē. ʻAʻole ʻike ka hoʻāʻo NIPT i kahi maʻi - hōʻike wale ia he ʻoi aku ka nui o ka pēpē e loaʻa i kahi kūlana. Ma hope o ka loaʻa ʻana o nā hopena NIPT, hiki ke ʻōlelo ʻia ka hoʻāʻo diagnostic. ʻAʻole koi ʻia nā hoʻāʻo prenatal e like me NIPT, a inā paha e loaʻa iā ʻoe, aia wale nō iā ʻoe.E kamaʻilio me kāu kauka a i ʻole ke kākāʻōlelo genetic e pili ana i kou mau hopohopo. He mea nui e hoʻomaopopo pono i ka mea e ʻimi nei ka hoʻokolohua a me ke ʻano o nā hopena, a hana i kahi hoʻoholo naʻauao. Makemake wau iā ʻoe a me kāu pēpē i nā mea maikaʻi loa!

NIPT , Hoʻāʻo Prenatal Noninvasive, hoʻāʻo prenatal, Down syndrome, nā ʻano chromosomal, hāpai keiki, cfDNA, olakino o ka pēpē