ʻO ka huaʻōlelo fetal anomaly e uhi i nā ʻano mea like ʻole. Hiki paha:

• chromosomal abnormality: abnormality o ka helu (me ka supernumerary chromosome: trisomy 13, 18, 21), o ka hana (unuhi, holoi ʻia), abnormality o sex chromosomes (Turner syndrome, Klinefelter syndrome). Hoʻopilikia ka Chromosomal abnormalities i ka 10 a 40% o nā manaʻo, akā ma muli o ke koho kūlohelohe (ka hāʻule ʻole a me ka make. i utero) pili wale lākou i 1 i loko o 500 mau keiki hānau hou, ma kahi o ka hapalua o lākou he Down's Syndrome (21);
• o ka ma'i genetic i laweia e kekahi o na makua. 1 i loko o 1 keiki hānau hou. ʻO nā maʻi maʻamau ʻelima he cystic fibrosis, hemochromatosis, phenylketonuria, alpha-2 antitrypsin deficiency a me thalassemia (XNUMX);
• he morphological malformation: cerebral, cardiac, genitourological, digestive, ma nā lālā, spine, face (cleft lip and palate). ʻO nā kumu exogenous (infectious, physical or toxic agents) wehewehe 5 a 10% o nā hihia, genetic a endogenous kumu 20 a 30%. ʻO 50% o nā hihia e waiho ʻole ʻia (3);
• he mea ʻino ma muli o kahi maʻi i loaʻa e ka makuahine i ka wā hāpai (toxoplasmosis, cytomegalovirus, rubella).

Hōʻike kēia mau pathologies i 4% o nā hānau hānau ola, a i ʻole 500 hānau ma ʻEulopa (000).

Ua wehewehe ʻia ka maʻi ma mua o ka hānau ʻana ma ke ʻano he "hana lapaʻau i manaʻo ʻia e ʻike i loko o ka utero i loko o ka embryo a i ʻole ka fetus, kahi aloha o kahi gravity". ”(Pauku L. 2131-1 o ke kanawai ola kino).

ʻO nā ultrasound screening ʻekolu ke kuleana nui ma kēia ʻike prenatal:

• ʻO ka mua, i hana ʻia ma waena o 11 a me 13 mau pule, hiki ke ʻike i kekahi mau malformations nui a komo i ka nānā ʻana i nā anomalies chromosomal ma ke ana ʻana i ka translucency nuchal;
• ʻo ka lua o ka mea i kapa ʻia ʻo "morphological" ultrasound (22 SA) hiki ke hana i kahi noiʻi morphological hohonu me ka manaʻo e hōʻike i kekahi mau anomalies morphological kino;
• ʻo ke kolu o ka ultrasound (ma waena o 32 a me 34 WA) hiki ke ʻike i kekahi mau mea ʻino morphological i ʻike ʻia i ka lohi.

Eia nō naʻe, ʻaʻole hiki i ka ultrasound ke ʻike i nā mea ʻino o ka fetal. ʻAʻole i hāʻawi ʻia kēia hoʻokolohua ma muli o ka ultrasound i ke kiʻi pololei o ka pēpē a me kona mau kino, akā ʻo nā kiʻi wale nō i hana ʻia i nā aka.

Hāʻawi ʻia ka nānā ʻana no ka trisomy 21 i nā makuahine hāpai, akā ʻaʻole koi ʻia. Hoʻokumu ʻia ia ma ke ana ʻana o ka translucency nuchal (ka mānoanoa o ka ʻāʻī) i ka wā ultrasound o ka 12 AS a me ka hoʻoholo ʻana i ke koko makuahine o nā serum markers (PAPP-A protein a me b-HCG hormone). Hoʻohui ʻia me ka makahiki o ka makuahine, hiki i kēia mau waiwai ke helu i kahi pilikia o Down's syndrome. Ma waho aʻe o 21/1, manaʻo ʻia he kiʻekiʻe ka pilikia.

Hiki ke hāʻawi ʻia kahi hōʻailona prenatal hohonu i nā kāne ma nā kūlana like ʻole:

• hōʻike ʻia nā hōʻike hōʻike ʻana (nā kani uila, ka nānā ʻana no ka trisomy 21) i kahi anomaly;
• Ua loaʻa i nā kāne ka ʻōlelo aʻoaʻo genetic (ma muli o ka ʻohana a i ʻole ka mōʻaukala olakino) a ua ʻike ʻia kahi pilikia o ka male ʻana o ka pēpē:
• ua loaʻa ka makuahine i ka maʻi i hiki ke pilikia i ka pēpē.

Hoʻokumu ʻia ka maʻi prenatal ma ka nānā ʻana i nā sela fetal e hana i ka nānā ʻana i ka chromosome, ka hoʻāʻo genetic molecular, a i ʻole ka hoʻāʻo biological e ʻike ai i ka maʻi fetal. Ma muli o ka manawa o ka hāpai ʻana, e hoʻohana ʻia nā hoʻokolohua like ʻole:

• Hiki ke hana i ka biopsy trophoblast mai 10 WA. ʻO ia ka lawe ʻana i kahi laʻana o kahi ʻāpana liʻiliʻi loa o ka trophoblast (placenta e hiki mai ana). Hiki ke hana ʻia inā ʻike ʻia kahi ʻano ʻino nui ma ka ultrasound o ka 12 WA a i ʻole he moʻolelo o nā mea ʻino i ka wā hāpai mua.
• Hiki ke hana ʻia ka amniocentesis mai 15 mau pule. Hoʻopili ia i ka lawe ʻana i ka wai amniotic a hiki ke ʻike i ka chromosomal a i ʻole nā ​​genetic abnormalities, a me ka ʻike ʻana i nā hōʻailona o kahi maʻi.
• ʻO ka hoʻopaʻa ʻana i ke koko fetal ka lawe ʻana i ke koko fetal mai ka ʻaʻa umbilical o ka fetus. Hiki ke hana ia mai ka 19 pule no ka hookumu ana i karyotype, no ka noi'i genetic, infectious assessment a i 'ole ka huli ana no ka fetal anemia.â € ¨

Hana ʻia kahi ultrasound i kapa ʻia ʻo "diagnostic" a i ʻole "laina lua" i ka wā e ʻike ʻia ai kahi pilikia e ka nānā ʻana i ke ultrasound, e ka mōʻaukala (genetic risk, diabetes, exposure to toxins, etc.) or biological screening. Hoʻopili ʻia nā mea anatomical hou aʻe e like me kahi protocol kikoʻī ma muli o ke ʻano o ka anomaly (5). Hoʻohana pinepine ʻia kēia ultrasound e ke kauka loea e hana ana i kahi pūnaewele me kahi kikowaena prenatal diagnostic center multidisciplinary. Hiki ke hana ʻia kahi MRI ma ke ʻano he laina ʻelua, no ka laʻana no ka ʻimi ʻana i ka ʻōnaehana nerve waena a i ʻole ka hoʻoholo ʻana i ka nui o kahi tumo a i ʻole kahi malformation.

Ke ʻike koke ʻia kahi anomaly fetal, e hāʻawi ʻia ka kāne i kahi kikowaena prenatal diagnostic center (CPDPN) multidisciplinary. 'Apono 'ia e ka Biomedicine Agency, 'o kēia mau kikowaena e hui pū i nā mea lapa'au like 'ole i ka lā'au prenatal: sonographer, biologist, geneticist, radioologist, neonatal surgeon, psychologist, etc. ʻO ka hoʻokele e pili ana i ke ʻano o ka anomaly a me kona paʻakikī. Hiki ke:

• ʻoki i loko o ka ʻōpū a i ʻole ka lāʻau lapaʻau o ka ʻōpū i loko o ka ʻōpū, ma o ka makuahine;
• he hana ʻokiʻoki mai ka hānau ʻana: a laila e hānau ka makuahine i loko o kahi haukapila hānai hiki ke hana i kēia hana. 'Ōlelo mākou no ka "transfer in utero";
• ke ʻike ʻia ka anomaly fetal e ka hui CPDPN he "hiki ke loaʻa i ke keiki i hānau ʻole ʻia ke ʻano o ka gravity i manaʻo ʻia ʻaʻole hiki ke hoʻōla ʻia i ka manawa o ka hōʻoia ʻana" (art. L. 2231-1 o ke Kānāwai Ola Ola) , Hāʻawi ʻia kahi hoʻopau lāʻau o ka hāpai ʻana (IMG) i nā mākua, e noho manuahi ana e ʻae a ʻaʻole paha.

Eia kekahi, hāʻawi ʻia ka mālama psychological i ka male i mea e lanakila ai i kēia pilikia paʻakikī o ka hoʻolaha ʻana i kahi anomaly fetal a, inā pono, kahi IMG.