Mawu akuti fetal anomaly amafotokoza zinthu zosiyanasiyana. Zitha kukhala:

• chromosomal yachilendo: kuchuluka kwa nambala (yokhala ndi chromosome yopambana: trisomy 13, 18, 21), ya kapangidwe (kusamutsa, kufufutitsa), kusowa kwa ma chromosomes ogonana (Turner syndrome, Klinefelter syndrome). Zovuta za Chromosomal zimakhudza 10 mpaka 40% yamalingaliro, koma chifukwa cha kusankhidwa kwachilengedwe (kuperewera kwapadera ndi kufa mu utero) amakhudza mwana m'modzi m'modzi wakhanda 1, pafupifupi theka la omwe ali ndi Down's syndrome (500);
• za matenda amtundu wopatsirana ndi m'modzi mwa makolowo. Mwana m'modzi mwa ana 1 aliwonse ali nawo. Matenda asanu omwe amapezeka kwambiri ndi cystic fibrosis, hemochromatosis, phenylketonuria, alpha-1 antitrypsin kusowa ndi thalassemia (2);
• kusokonezeka kwa morphological: ubongo, mtima, genitourological, kugaya m'miyendo, msana, nkhope (milomo yolimba ndi m'kamwa). Zomwe zimayambitsa (zopatsirana, zakuthupi kapena poizoni) zimafotokozera 5 mpaka 10% yamilandu, zomwe zimayambitsa chibadwa kapena zamkati mwa 20 mpaka 30%. 50% yamilandu imakhalabe yosadziwika (3);
• zosazolowereka chifukwa cha matenda omwe mayi adatenga panthawi yomwe ali ndi pakati (toxoplasmosis, cytomegalovirus, rubella).

Matenda onsewa amaimira 4% ya obadwa amoyo, kapena 500 obadwira ku Europe (000).

Matendawa asanabadwe amatanthauzidwa kuti ndi "njira zamankhwala zomwe zimafunikira kudziwa m'mimba mwa mwana wosabadwayo, chikondi cha mphamvu inayake". ”(Article L. 2131-1 yamalamulo azaumoyo).

Ma ultrasound openda atatuwa amatenga gawo lalikulu pamankhwala oyambawa asanabadwe:

• yoyamba, yomwe imachitika pakati pa masabata 11 mpaka 13, imatha kuzindikira zovuta zina zazikulu ndikuchita nawo kuwunika kwa chromosomal anomalies poyesa kusintha kwa nuchal;
• chachiwiri chomwe chimatchedwa "morphological" ultrasound (22 SA) chimapangitsa kafukufuku wozama kuti athe kuchitika ndi cholinga chowunikira zovuta zina zakuthupi;
• ultrasound yachitatu (pakati pa 32 ndi 34 WA) imapangitsa kuti zidziwike zovuta zina zomwe zimawoneka mochedwa.

Komabe, ma ultrasound samatha kuzindikira zovuta nthawi zonse za fetus. Kufufuza kotereku kwa ultrasound sikupereka chithunzi chenicheni cha mwana wosabadwayo ndi ziwalo zake, koma zithunzi zokha zopangidwa ndi mithunzi.

Kuunika kwa trisomy 21 kumaperekedwa mwadongosolo kwa amayi oyembekezera, koma osati mokakamiza. Zimakhazikika pamiyeso ya nuchal translucency (makulidwe a khosi) nthawi ya ultrasound ya 12 AS komanso kutsimikiza kwa magazi amayi a serum markers (PAPP-A protein ndi b-HCG hormone). Kuphatikiza ndi msinkhu wa amayi, izi zimapangitsa kuti athe kuwerengera chiopsezo cha Down's syndrome. Pambuyo pa 21/1, chiwopsezo chimawerengedwa kuti nchachikulu.

Chidziwitso chozama cha kubadwa kwa amayi amatha kuperekedwa kwa banjali munthawi zosiyanasiyana:

• mayeso owunika (ma ultrasound, kuwunika kwa trisomy 21) akuwonetsa zovuta;
• banjali adalandira upangiri wamtundu (chifukwa cha mbiri ya banja kapena zamankhwala) ndipo chiopsezo chokhala ndi vuto la fetus chidadziwika:
• mayi woyembekezera watenga matenda omwe akhoza kukhala owopsa kwa mwana wosabadwayo.

Matendawa asanabadwe amatengera kusanthula kwama cell a fetus kuti apange kusanthula kwa chromosome, kuyesa ma cell, kapena kuyesa kwachilengedwenso kuti adziwe matenda a fetus. Kutengera nthawi ya pakati, mayeso osiyanasiyana adzagwiritsidwa ntchito:

• trophoblast biopsy itha kuchitika kuchokera ku 10 WA. Zimaphatikizapo kutenga kachidutswa kakang'ono kwambiri ka trophoblast (placenta yamtsogolo). Zitha kuchitidwa ngati vuto lalikulu lapezeka pa ultrasound ya 12 WA kapena ngati pali mbiri yazovuta zapakati pa mimba yapitayi.
• amniocentesis itha kuchitidwa kuyambira masabata 15 kupita mtsogolo. Zimaphatikizira kumwa amniotic madzimadzi ndipo zimapangitsa kuti athe kuzindikira zovuta za chromosomal kapena majini, komanso kuzindikira zodwala.
• Kupunduka kwa magazi a fetal kumaphatikizapo kutenga magazi a fetal kuchokera mumtsinje wa mwana wosabadwayo. Ikhoza kuchitidwa kuyambira masabata 19 kuti ikhazikitse mtundu wa karyotype, wofufuza za majini, kuwunika koopsa kapena kufunafuna kuchepa kwa magazi m'thupi.

Chotchedwa "diagnostic" kapena "mzere wachiwiri" wa ultrasound umachitika pomwe chiwopsezo china chimadziwika ndi kuwunika kwa ultrasound, ndi mbiri (chiopsezo cha majini, matenda ashuga, kukhudzana ndi poizoni, ndi zina) kapena kuwunika kwachilengedwe. Zambiri zamatomiki zimasanthulidwa malinga ndi mtundu winawake kutengera mtundu wa zolakwika (5). Izi ultrasound nthawi zambiri zimachitidwa ndi dokotala waluso wogwira ntchito mu netiweki yokhala ndi malo ophunzitsira amayi asanabadwe. MRI itha kuchitidwa ngati mzere wachiwiri, mwachitsanzo kuti mufufuze zamitsempha yapakati kapena kudziwa kukula kwa chotupa kapena cholakwika.

Akangopezeka kuti ali ndi vuto losabereka, banjali limatumizidwa kuchipatala chodziwitsa anthu zachipatala (CPDPN). Ovomerezedwa ndi Biomedicine Agency, malowa amabweretsa pamodzi akatswiri osiyanasiyana azamankhwala asanabadwe: sonographer, biologist, geneticist, radiologist, neonatal surgeon, psychologist, etc. Management imadalira mtundu wa anomaly komanso kuuma kwake. Zitha kukhala:

• opaleshoni utero kapena mankhwala osokoneza bongo a mwana wosabadwa, kudzera mwa mayi;
• Kuchita opaleshoni kuyambira pobadwa: mayi wamtsogolo adzabadwira kuchipatala cha amayi oyembekezera. Timalankhula za "kusamutsa mu utero";
• pamene vuto la fetus lodziwika limaonedwa ndi gulu la CPDPN ngati "ali ndi mwayi waukulu kuti mwana wosabadwa akhoza kukhala ndi vuto lokoka lomwe limawoneka ngati losachiritsika panthawi yodziwitsa" (art. L. 2231-1 ya Public Health Code) , Kuthetsa mimba (IMG) kumaperekedwa kwa makolo, omwe amakhala omasuka kuvomera kapena ayi.

Kuphatikiza apo, chisamaliro cham'maganizo chimaperekedwa kwa banjali kuti athane ndi vuto lolengezalo la kulephera kwa fetus ndipo, ngati kuli koyenera, IMG.