Izwi rekuti "fetus anomaly" rinosanganisira chokwadi chakasiyana. Zvinogona kuva:

• chromosomal abnormality: kusaenzana kwenhamba (ine supernumerary chromosome: trisomy 13, 18, 21), yechimiro (translocation, deletion), kusagadzikana kwemakromosome epabonde (Turner syndrome, Klinefelter syndrome). Chromosomal abnormalities inokanganisa 10 kusvika 40% yemafungiro, asi nekuda kwekusarudzwa kwechisikigo (kuparara kwepamuviri uye kufa. in utero) zvinobata mwana mumwe chete mu1 achangoberekwa, inenge hafu yavo ine Down's syndrome (500);
• chechirwere chemajini chinopfuudzwa nemumwe wevabereki. Mwana 1 mu1 achangozvarwa anacho. Zvirwere zvishanu zvinowanzozivikanwa ndeye cystic fibrosis, hemochromatosis, phenylketonuria, alpha-2 antitrypsin inoshaya uye thalassemia (XNUMX);
• a morphological malformation: cerebral, cardiac, genitourological, kugaya, mumakumbo, musana, chiso (kutsemuka muromo uye mukanwa). Zvikonzero zvekunze (zvinotapukira, zvemuviri kana zvine chepfu) zvinotsanangura 5 kusvika 10% yezviitiko, genetic kana endogenous zvinokonzera 20 kusvika 30%. 50% yematambudziko anoramba asina kutsanangurwa (3);
• kusagadzikana nekuda kwehutachiona hwakabatwa naamai panguva yekuzvitakura (toxoplasmosis, cytomegalovirus, rubella).

Zvose izvi zvirwere zvinomiririra 4% yevana vanoberekwa, kana mazana mashanu ekuberekwa muEurope (500).

Kuongororwa kusati kwasununguka kunotsanangurwa seti "maitiro ekurapa anoitirwa kuona muchibereko mu "embryo" kana "fetus", rudo rweimwe simba rinokwevera zvinhu pasi". ”(Chinyorwa L. 2131-1 chekodhi yehutano hweveruzhinji).

Iwo matatu ekuvheneka ma ultrasound anoita basa guru rekutanga mukuongororwa kwepamuviri uyu:

• yekutanga, inoitwa pakati pemasvondo gumi nerimwe kusvika gumi nematatu ekuzvarwa, inoita kuti zvikwanise kuona kumwe kukanganisa kukuru uye kutora chikamu mukuongororwa kwechromosomal anomalies nekuyera nuchal translucency;
• yechipiri inonzi "morphological" ultrasound (22 SA) inoita kuti chidzidzo chakadzama che morphological chiitwe nechinangwa chekuburitsa zvimwe zvinokanganisa morphological;
• yechitatu ultrasound (pakati pe 32 ne 34 WA) inoita kuti zvikwanise kuongorora zvimwe morphological abnormalities zvinoonekwa nguva yapera.

Zvisinei, ultrasound haigoni kuona nguva dzose kukanganisa kwe fetus. Iyi ultrasound-based ongororo haipe mufananidzo chaiwo we "fetus" uye nhengo dzayo, asi mifananidzo chete yakagadzirwa nemimvuri.

Kuongororwa kwetrisomy 21 kunopihwa zvakarongeka kuna amai vane pamuviri, asi kwete zvekumanikidzwa. Inobva pachiyero che nuchal translucency (ukobvu hwemutsipa) panguva ye ultrasound ye12 AS uye kutsunga muropa raamai rema serum markers (PAPP-A protein uye b-HCG hormone). Zvakasanganiswa nezera raamai, izvi zvakakosha zvinoita kuti zvikwanise kuverenga njodzi yeDown's syndrome. Kupfuura 21/1, njodzi inoonekwa seyakakwira.

Kuwedzera kwakadzika kwe prenatal diagnostic inogona kupihwa kune vakaroorana mumamiriro akasiyana:

• kuongorora kuongorora (ultrasounds, kuongorora trisomy 21) inoratidza kusanzwisisika;
• vaviri vakagamuchira genetic counselling (nekuda kwemhuri kana nhoroondo yezvekurapa) uye njodzi yekusagadzikana kwe "fetus" yakaonekwa:
• amai vachange vabata utachiona hunogona kuva nengozi kumwana ari mudumbu.

Kuongororwa kwepamuviri kunobva pakuongororwa kwemasero e "fetus" kuti aongorore chromosome, molecular genetic test, kana biological test kuona hutachiona hwe "fetus". Zvichienderana nenguva yekuzvitakura, miedzo yakasiyana ichashandiswa:

• trophoblast biopsy inogona kuitwa kubva ku10 WA. Inosanganisira kutora sampuli yechidimbu chidiki chetrophoblast (remangwana placenta). Inogona kuitwa kana kukanganisa kwakanyanya kwaonekwa pa ultrasound ye12 WA kana kuti pane nhoroondo yezvisina kunaka panguva yekare yepamuviri.
• amniocentesis inogona kuitwa kubva kumasvondo gumi nemashanu zvichienda mberi. Zvinosanganisira kutora amniotic fluid uye zvinoita kuti zvikwanise kuongorora chromosomal kana genetic abnormalities, pamwe nekuona zviratidzo zvehutachiona.
• Fetal kubaya ropa kunosanganisira kutora ropa re "fetus" kubva mutsinga yemuguvhu ye "fetus". Inogona kuitwa kubva kumavhiki e19 kugadzira karyotype, yekuongorora genetic, kuongororwa kwehutachiona kana kutsvaga fetus anemia.â € ¨

Iyo inonzi "diagnostic" kana "yechipiri-mutsara" ultrasound inoitwa kana imwe njodzi ichionekwa nekuongorora ultrasound, nenhoroondo (genetic risk, chirwere cheshuga, kuratidzwa kune chepfu, nezvimwewo) kana biological screening. Zvimwe anatomical zvinhu zvinoongororwa zvichienderana neprotocol chaiyo zvichienderana nerudzi rweanomaly (5). Iyi ultrasound inowanzoitwa nachiremba nyanzvi anoshanda mune network ine multidisciplinary prenatal diagnosis centre. Iyo MRI inogona kuitwa semutsara wechipiri, semuenzaniso kuongorora iyo yepakati tsinga system kana kuona hukuru hwebundu kana malformation.

Pakangoonekwa kuti fetal anomaly, vaviri ava vanoendeswa kune multidisciplinary prenatal diagnosis centre (CPDPN). Yakatenderwa neBiomedicine Agency, nzvimbo idzi dzinounza pamwechete nyanzvi dzakasiyana dzekurapa vasati vazvarwa: sonographer, biologist, geneticist, radiologist, neonatal surgeon, psychologist, etc. Kutungamira kunoenderana nerudzi rweanomaly uye kuomarara kwayo. Inogona kuva:

• kuvhiyiwa muchibereko kana kurapwa kwemishonga ye fetus mu utero, kuburikidza naamai;
• kupindira kwekuvhiya kubva pakuzvarwa: amai vanozoberekwa vachabva vasununguka muchipatara chekuberekwa chinokwanisa kuita kupindira uku. Tinotaura nezve "kutama mu utero";
• kana fetal anomaly yaonekwa inoonekwa neboka reCPDPN seine "mukana wakakura wekuti mwana asati azvarwa angave nechimiro chesimba regiravhiti rinoonekwa risingarapike panguva yekuongororwa" (art. L. 2231-1 yePublic Health Code) , kubviswa kwekurapa kwepamuviri (IMG) kunopiwa kuvabereki, avo vanoramba vakasununguka kugamuchira kana kuti kwete.

Mukuwedzera, kuchengetwa kwepfungwa kunopihwa zvakarongeka kune vakaroorana kuitira kuti vakunde dambudziko iri rakaoma rekuziviswa kwe fetal anomaly uye, kana zvichidiwa, IMG.