Kusina-invasive prenatal screening ndeye genetic test inogona kuona trisomy 21 muchibereko. bvunzo iyi inei? Muzviitiko zvipi zvinoratidzwa kune vakadzi vane pamuviri? Akavimbika here? Zvese zvaunoda kuti uzive nezve DPNI.

Iyo DPNI, inonziwo LC T21 DNA test, ndeye genetic test inopiwa kuvakadzi vane pamuviri muchirongwa chekuongorora che trisomy 21. Kuongororwa kweropa kunotorwa kubva ku11th vhiki yeamenorrhea (AS) uye iyo inobvumira kuwanda uye kuongororwa kwe fetal. DNA inotenderera muropa raamai. Ongororo iyi inoitwa kuti igoneke nehunyanzvi hwepamusoro hwekuita DNA sequencing tekinoroji NGS (Next Generation Sequencing). Kana mhedzisiro inoratidza kuti DNA kubva kukromosome 21 iripo muhuwandu hwakawanda, zvinoreva kuti "fetus" ine mukana wakakura wekuve mutakuri weDown's syndrome. 

Muedzo unodhura 390 €. Inofukidzwa 100% neHealth Insurance. 

MuFrance, kuongororwa kweDown's syndrome kunobva pane zvakati wandei.

Kuyera kwe nuchal translucency ye fetus 

Danho rekutanga pakuongorora nderekuyera nuchal translucency ye "fetus" panguva yekutanga ultrasound (inoitwa pakati pe11th ne13th WA). Inzvimbo inowanikwa pamwero wemutsipa we fetus. Kana nzvimbo iyi yakakurisa, inogona kunge iri chiratidzo chechromosomal abnormality. 

Kuongororwa kwemakaka serum

Pakupera kwekutanga ultrasound, chiremba anoratidzawo kuti murwere aite dosage yemaserum markers kuburikidza nekuongorora ropa. Serum markers zvinhu zvakavanzwa ne placenta kana fetus uye zvinowanikwa muropa raamai. Chiyero chepamusoro kana kudzika kupfuura avhareji yemakaki e serum inogona kusimudza fungidziro yeDown's syndrome.

Zera raamai vanozova

Zera raamai-ku-kuve rinotariswawo mukuongororwa kwetrisomy 21 (njodzi inowedzera nezera). 

Mushure mekudzidza zvinhu zvitatu izvi, nyanzvi yezvehutano anotevera mukadzi ane pamuviri anofungidzira njodzi yekuti mwana ari mudumbu anotakura Down's syndrome nekutaura mufananidzo kwaari. 

Ndeipi iyo DPNI inopiwa?

Kana njodzi inogona kuitika iri pakati pe1/1000 ne1/51, murwere anopiwa DPNI. Inoratidzwa zvakare:

• muvarwere vanopfuura makore makumi matatu nemasere vasingakwanisi kubatsirwa kubva mukuongororwa kwemamai serum mamaki.
• muvarwere vane nhoroondo yeDown's syndrome kubva pakubata pamuviri kwapfuura.
• mune vakaroorana apo mumwe wevabereki vaviri venguva yemberi ane Robertsonian translocation (karyotype abnormality inogona kutungamirira ku trisomy 21 muvana). 

Asati aita ongororo, mukadzi ane pamuviri anofanira kutumira chirevo che 1st trimester ultrasound inopupurira kujairana kweiyo nuchal translucency uye chitupa chekubvunzana nekurapa uye nemvumo yekuziva (uku kuongororwa hakufanirwe kungofanana nedoseji yemaserum marker). 

Mhedzisiro yebvunzo inodzoserwa mukati memazuva masere kusvika gumi kune anonyorerwa (nyamukuta, gynecologist, general practitioner). Ndiye ega ane mvumo yekuendesa mhedzisiro kumurwere. 

Muchiitiko chezvinonzi "positive" mhedzisiro

Iyo inonzi "yakanaka" mhedzisiro inoreva kuti kuvepo kweDown's syndrome kunowanzoitika. Zvisinei, kuongororwa kwekuongorora kunofanira kusimbisa chigumisiro ichi. Inosanganisira kuongorora machromosomes emucheche mushure me amniocentesis (sampling yeamniotic fluid) kana choriocentesis (kubviswa kwemuenzaniso kubva pa placenta). Kuongororwa kwekuongorora kunoonekwa sechisarudzo chekupedzisira nokuti inonyanya kuvhiringidza kupfuura DPNI uye kuongororwa kwemaserum markers. 

Muchiitiko chezvinonzi "negative" mhedzisiro

Izvo zvinonzi "negative" mhedzisiro zvinoreva kuti hapana trisomy 21 yaonekwa. Kutariswa kwenhumbu kuri kuenderera mberi semazuva ese. 

Muzviitiko zvisingawanzoitiki, bvunzo inogona kusapa mhedzisiro. Sekureva kweBiomedicine Agency, huwandu hwebvunzo dzisingaite muna 2017 dzinomiririra 2% chete yeNIDD yese.

Sekureva kweAssociation des Cytogenéticiens de Langue Française (ACLF), "mhedzisiro maererano nekunzwa (99,64%), chaiyo (99,96%) uye yakanaka yekufungidzira kukosha (99,44%) muhuwandu hwevanhu vari panjodzi yakawedzera. fetal aneuploidy yakanakira Down's syndrome ”. Muedzo uyu ungave wakavimbika zvikuru uye uchaitawo kuti zvikwanise kudzivirira 21 fetal karyotypes (by amniocentesis) gore rega rega muFrance.