Ukuhlolwa ngaphambi kokubeletha kungukuhlolwa kofuzo okungathola i-trisomy 21 embungwini. Ngabe lokhu kuhlolwa kuqukethe ini? Kukuziphi izimo lapho kuboniswa khona abesifazane abakhulelwe? Ingabe unokwethenjelwa? Konke odinga ukukwazi nge-DPNI.

I-DPNI, ebizwa nangokuthi i-LC T21 DNA test, ukuhlolwa kofuzo okunikezwa abesifazane abakhulelwe kucebo lokuhlola i-trisomy 21. Ukuhlolwa kwegazi okuthathwe esontweni le-11 le-amenorrhea (AS) futhi okuvumela ukulinganiswa nokuhlaziywa kombungu I-DNA ejikeleza egazini likamama. Lokhu kuhlolwa kwenziwa ukuthi kube nobuchwepheshe obusha bokulandelana kwe-DNA nge-NGS (Next Generation Sequencing). Uma umphumela ukhombisa ukuthi i-DNA evela ku-chromosome 21 ikhona ngamanani amakhulu, kusho ukuthi umbungu unamathuba amaningi okuba othwala i-Down's syndrome. 

Isivivinyo sibiza ama-390 €. Ihlanganiswa i-100% nguMshwalense Wezempilo. 

EFrance, ukuhlolwa kwe-Down's syndrome kusekelwe ezintweni eziningana.

Kukalwa kwe-nuchal translucency ye-fetus 

Isinyathelo sokuqala ekuhlolweni ukukala ukuguquguquka kwe-nuchal kombungu ngesikhathi se-ultrasound yokuqala (eyenziwa phakathi kwe-11 ne-13 WA). Kuyisikhala esisezingeni lentamo yombungu. Uma ngabe lesi sikhala sikhulu kakhulu, kungaba uphawu lokungajwayelekile kwe-chromosomal. 

Ukuhlolwa komaka be-serum

Ekupheleni kwe-ultrasound yokuqala, udokotela uphakamisa nokuthi isiguli senze umthamo wezimpawu ze-serum ngokuhlola igazi. Izimpawu ze-serum yizinto ezifihliwe yi-placenta noma umbungu futhi ezitholakala egazini lomama. Izinga eliphakeme noma elingaphansi kwesilinganiso sezimpawu ze-serum lingakhuphula ukusola kwe-Down's syndrome.

Iminyaka yokuba ngumama ozayo

Iminyaka yokuba ngumama ozayo nayo iyabhekwa ekuhlolweni kwe-trisomy 21 (ingozi iyanda ngeminyaka). 

Ngemuva kokutadisha lezi zinto ezintathu, uchwepheshe wezempilo olandela owesifazane okhulelwe ulinganisela ubungozi bokuthi umbungu ungumphathi we-Down's syndrome ngokuxhumana naye. 

Ngabe ikuphi i-DPNI enikezwayo?

Uma ingozi engaba khona iphakathi kuka-1/1000 no-1/51, isiguli sinikezwa i-DPNI. Kuboniswa futhi:

• ezigulini ezingaphezulu kweminyaka engama-38 ezingakwazanga ukuzuza ekuhlolweni komaka be-serum womama.
• ezigulini ezinomlando we-Down's syndrome kusukela ekukhulelweni kwangaphambilini.
• emibhangqwaneni lapho omunye wabazali ababili besikhathi esizayo enokudluliswa kweRobertsonia (okungajwayelekile kwe-karyotype okungaholela ku-trisomy 21 ezinganeni). 

Ngaphambi kokwenza ukuhlolwa, owesifazane okhulelwe kufanele athumele umbiko we-1st trimester ultrasound efakazela ukujwayeleka kwe-nuchal translucency kanye nesitifiketi sokubonisana nabezokwelapha nemvume enolwazi (lokhu kuhlolisiswa akuphoqelekile njengokulinganisa komaki be-serum). 

Umphumela wokuhlolwa ubuyiselwa zingakapheli izinsuku eziyi-8 kuye kwezingu-10 kummeli (umbelethisi, udokotela wezifo zabesifazane, udokotela ojwayelekile). Nguye kuphela ogunyaziwe ukudlulisa umphumela esigulini. 

Uma kwenzeka umphumela obizwa ngokuthi "omuhle"

Umphumela obizwa nge- "positive" usho ukuthi ukuba khona kwe-Down's syndrome kungenzeka kakhulu. Kodwa-ke, ukuhlolwa kokuxilongwa kufanele kuqinisekise lo mphumela. Kuqukethe ukuhlaziya ama-chromosomes we-fetus ngemuva kwe-amniocentesis (isampuli ye-amniotic fluid) noma i-choriocentesis (ukususwa kwesampula ku-placenta). Ukuhlolwa kokuxilongwa kubhekwa njengesinqumo sokugcina ngoba kuyahlasela kakhulu kune-DPNI kanye nokuhlolwa kwezimpawu ze-serum. 

Uma kwenzeka kuba nomphumela obizwa ngokuthi "ongemuhle"

Umphumela obizwa ngokuthi "ongemuhle" usho ukuthi ayikho i-trisomy 21 etholakele. Ukuqapha ukukhulelwa kuyaqhubeka njengokujwayelekile. 

Ezimweni ezingavamile, ukuhlolwa kungahle kunganikeli umphumela. Ngokwe-Biomedicine Agency, isibalo sezivivinyo ezingathathelwa izinyathelo ngo-2017 besimele kuphela u-2% wawo wonke ama-NIDD.

Ngokwe-Association des Cytogenéticiens de Langue Française (ACLF), “imiphumela ngokobuzwe (99,64%), imininingwane (99,96%) kanye nenani elihle lokuqagela (99,44%) kubantu abasengcupheni lenyukile I-aneuploidy yesisu ihle kakhulu kwi-Down's syndrome ”. Ngakho-ke lokhu kuhlolwa kungathembeka kakhulu futhi kuzokwenza ukuthi kugwenywe ama-karyotypes angama-21 e-fetus (ngama-amniocentesis) unyaka nonyaka eFrance.