Itemu elithi i-fetus anomaly lihlanganisa amaqiniso ahlukene. Kungaba:

• okungavamile kwe-chromosomal: ukungavamile kwenombolo (ene-chromosome engaphezu kwezibalo: i-trisomy 13, 18, 21), yesakhiwo (ukudluliselwa, ukususwa), ukungavamile kwama-chromosome ocansi (i-Turner syndrome, i-Klinefelter syndrome). Ukungajwayelekile kweChromosomal kuthinta u-10 kuya ku-40% wemicabango, kodwa ngenxa yokukhethwa kwemvelo (ukuphuphunyelwa yizisu okuzenzakalelayo nokufa ku-utero) zithinta ingane eyodwa kuphela kwezingu-1 ezisanda kuzalwa, cishe ingxenye yazo ene-Down's syndrome (500);
• wesifo sofuzo esidluliselwa ngomunye wabazali. 1 ko-1 osanda kuzalwa unaso. Izifo ezinhlanu ezivame kakhulu yi-cystic fibrosis, i-hemochromatosis, i-phenylketonuria, ukuntuleka kwe-alpha-2 antitrypsin kanye ne-thalassemia (XNUMX);
• ukukhubazeka kwe-morphological: ubuchopho, inhliziyo, i-genitourological, ukugaya, ezithweni, umgogodla, ubuso (ukuqhekeka udebe nolwanga). Izimbangela zangaphandle (izifo ezithathelwanayo, ezingokwenyama noma ezinobuthi) zichaza amacala angu-5 kuya kwayi-10, izimbangela zofuzo noma ezingapheli zingama-20 kuye ku-30%. Amaphesenti angama-50 wamacala ahlala engachazwanga (3);
• ukungahambi kahle ngenxa yokutheleleka okutholwa ngumama ngesikhathi sokukhulelwa (i-toxoplasmosis, i-cytomegalovirus, i-rubella).

Wonke lawa ma-pathologies amelela u-4% wokuzalwa okuphilayo, noma ukuzalwa kwe-500 eYurophu (000).

Ukuxilongwa kwangaphambi kokubeletha kuchazwa njengesethi “yezinqubo zokwelapha ezihloselwe ukuthola esibelethweni kumbungu noma ku-fetus, uthando lwamandla adonsela phansi athile”. ”(I-athikili L. 2131-1 yekhodi yezempilo yomphakathi).

Ama-ultrasounds amathathu okuhlola adlala indima enkulu yomugqa wokuqala kulokhu kuxilonga ngaphambi kokubeletha:

• eyokuqala, eyenziwa phakathi kwamasonto ayi-11 nayi-13 ubudala, yenza kube nokwenzeka ukuthola ukukhubazeka okuthile okukhulu futhi ibambe iqhaza ekuhloleni ukuhlukana kwe-chromosomal ngokulinganisa ukuguquguquka kwe-nuchal;
• eyesibili ebizwa ngokuthi i-“morphological” ultrasound (22 SA) yenza ukuba kwenziwe ucwaningo olunzulu lwe-morphological ngenhloso yokugqamisa ukungafani okuthile kokuma komzimba;
• i-ultrasound yesithathu (phakathi kwama-32 nama-34 WA) yenza kube nokwenzeka ukuhlonza okungavamile kokuma kwemvelo okuvela ngemva kwesikhathi.

Kodwa-ke, i-ultrasound ayikwazi njalo ukubona ukungahambi kahle kwengane. Lokhu kuhlolwa okusekelwe ku-ultrasound akunikezi isithombe esiqondile somntwana kanye nezitho zayo, kodwa kuphela izithombe ezenziwe ngezithunzi.

Ukuhlolwa kwe-trisomy 21 kunikezwa ngokuhlelekile komama abakhulelwe, kodwa akuphoqelekile. Kusekelwe esilinganisweni se-nuchal translucency (ubukhulu bentamo) ngesikhathi se-ultrasound ye-12 AS kanye nokuzimisela egazini likamama lama-serum markers (i-PAPP-A protein ne-b-HCG hormone). Kuhlanganiswe neminyaka kamama, lezi zindinganiso zenza kube nokwenzeka ukubala ingozi ye-Down's syndrome. Ngalé kuka-21/1, ingozi ibhekwa njengephezulu.

Ukuxilongwa okujulile kwangaphambi kokubeletha kunganikezwa umbhangqwana ezimeni ezahlukene:

• ukuhlolwa kokuhlolwa (i-ultrasounds, ukuhlolwa kwe-trisomy 21) kuphakamisa ukungahambi kahle;
• umbhangqwana uthole ukwelulekwa ngofuzo (ngenxa yomlando womndeni noma wezokwelapha) futhi kutholakale ingozi yokungajwayelekile kwengane:
• umama ozobe ezalwa ungenwe isifo esingase sibe yingozi ku-fetus.

Ukuxilongwa ngaphambi kokubeletha kusekelwe ekuhlaziyweni kwamaseli engane ukuze enze ukuhlaziya i-chromosome, ukuhlola izakhi zofuzo zamangqamuzana, noma ukuhlola kwebhayoloji ukuze kutholakale ukutheleleka kwengane. Ngokuya ngesikhathi sokukhulelwa, ukuhlolwa okuhlukene kuzosetshenziswa:

• I-trophoblast biopsy ingenziwa kusuka ku-10 WA. Kubandakanya ukuthatha isampula yesiqephu esincane kakhulu se-trophoblast (i-placenta yesikhathi esizayo). Kungenziwa uma ukungavamile okukhulu kutholwe ku-ultrasound ye-12 WA noma uma kunomlando wokungajwayelekile phakathi nokukhulelwa kwangaphambilini.
• i-amniocentesis ingenziwa kusukela emavikini angu-15 kuya phambili. Kubandakanya ukuthatha uketshezi lwe-amniotic futhi kwenza kube nokwenzeka ukuhlonza i-chromosomal noma i-genetic abnormalities, kanye nokuthola izimpawu zokutheleleka.
• Ukubhoboza igazi le-fetus kubandakanya ukuthatha igazi lengane esemthanjeni we-umbilical we-fetus. Kungenziwa kusukela emavikini angu-19 ukuze kusungulwe i-karyotype, ucwaningo lwezakhi zofuzo, ukuhlolwa okuthathelwanayo noma ukusesha i-anemia ye-fetus.â € ¨

I-ultrasound ebizwa ngokuthi "i-diagnostic" noma "yomugqa wesibili" yenziwa lapho ingozi ethile ibonakala ngokuhlolwa kwe-ultrasound, ngomlando (ingozi yofuzo, isifo sikashukela, ukuchayeka ebuthini, njll.) noma ukuhlolwa kwezinto eziphilayo. Izakhi ezengeziwe ze-anatomical zihlaziywa ngokuya ngephrothokholi ethile kuye ngohlobo lwe-anomaly (5). Le ultrasound ivame ukwenziwa ngudokotela onguchwepheshe osebenza kunethiwekhi enesikhungo sokuxilongwa kokubeletha okuhlukahlukene. I-MRI ingenziwa njengomugqa wesibili, isibonelo ukuhlola isimiso sezinzwa esimaphakathi noma ukunquma izinga lesimila noma ukonakala.

Ngokushesha nje lapho kutholakala ukuthi kukhona okungahambi kahle kwengane, umbhangqwana udluliselwa esikhungweni sokuxilonga ngaphambi kokubeletha (CPDPN). Kugunyazwe i-Biomedicine Agency, lezi zikhungo zihlanganisa ndawonye ochwepheshe abahlukene bezokwelapha zangaphambi kokubeletha: i-sonographer, isazi sezinto eziphilayo, isazi sofuzo, isazi se-radiologist, udokotela ohlinzayo osanda kuzalwa, isazi sokusebenza kwengqondo, njll. Ukuphatha kuncike ohlotsheni lwe-anomaly kanye nobukhulu bayo. Kungaba:

• ukuhlinzwa esibelethweni noma ukwelashwa kwezidakamizwa kwe-fetus esibelethweni, kusetshenziswa umama;
• ukungenelela kokuhlinzwa kusukela ekuzalweni: umama ozozala uyobe esebelethela esibhedlela sokubeletha esikwazi ukwenza lokhu kungenelela. Sikhuluma "ngokudluliselwa esibelethweni";
• lapho ukukhubazeka kombungu okutholiwe kubhekwa ithimba le-CPDPN “njengamathuba aphezulu okuthi ingane engakazalwa ibe nesimo samandla adonsela phansi athathwa ngokuthi angelapheki ngesikhathi sokuxilongwa” (art. L. 2231-1 Wekhodi Yomphakathi Yezempilo) , i-medical termination of pregnancy (IMG) inikezwa abazali, abahlala bekhululekile ukuyamukela noma cha.

Ngaphezu kwalokho, ukunakekelwa kwengqondo kunikezwa ngendlela ehlelekile kumbhangqwana ukuze unqobe lolu vivinyo olunzima lokumenyezelwa kwe-anomaly ye-fetus futhi, uma kunesidingo, i-IMG.