Anomalitë gjenetike mund të ndodhin në çdo shtatzëni, prandaj testi NIPT është i rëndësishëm për çdo grua shtatzënë, pavarësisht nga mosha e saj apo risku i predispozitës gjenetike.
Ekspertët mjekësorë rekomandojnë që të gjitha gratë shtatzëna, dhe veçanërisht nënat e ardhshme pas moshës 35 vjeç, të kryejnë testin prenatal jo invaziv (NIPT). Shanset e trizomive (të tilla si sindromat Down, Edwards dhe Patau) fillojnë të rriten ndjeshëm.
Rreziku i sindromës Down rritet gradualisht deri në moshën 30 vjeçare,por pas kësaj moshe risku rritet në mënyrë eksponenciale. Pra, nga mosha 30 vjeçare, rreziku për të pasur një fëmijë me sindromën Down trefishohet çdo tre vjet. Shtatzënitë me këtë anomali gjenetike kanë 30% mundësi për abort.
Një nga testet NIPT është gjithashtu NIFTY by GenePlanet – mund të lexoni më shumë rreth tij këtu.
Në përgjithësi çdo qelizë në trup përmban 46 kromozome (23 nga nëna, 23 nga babai). Shtesa apo mungesa e një kromozomi çon në anomali të tilla si trizomitë e përmendura më sipër dhe anomalitë e kromozomeve seksuale (përfshirë sindromën Klinefelter, sindromën Turner, sindromën e X të trefishtë dhe sindromën Jacobs).
A është mosha faktori i vetëm i rrezikut?
Megjithëse mosha ndikon në shfaqjen e disa anomalive gjenetike, nuk janë vetëm gratë shtatzëna mbi të 30-tat ato që janë në rrezik. Mikrodelecionet dhe duplikacionet janë shembujt më të mirë.
Ato ndodhin kur numri i kromozomeve është normal, por një pjesë e kromozomit ose dyfishohet (duplikacionet ) ose fshihet (delecionet).
Anomali të tilla mund të shfaqen si prapambetje fizike dhe mendore, çrregullime të sjelljes, vështirësi në të ushqyer, ton i ulët i muskujve, konvulsione, tipare dalluese të fytyrës dhe shumë të tjera. Kuadri klinik varion midis delecioneve dhe duplikacioneve të ndryshme.
Mund të lexoni më shumë rreth delecioneve dhe duplikacioneve këtu.
Ndryshe nga trizomitë dhe anomalitë e kromozomeve seksuale, prania e delecioneve dhe duplikacioneve nuk lidhet statistikisht në mënyrë domethënëse me moshën.
Kjo do të thotë se ndryshe nga sindroma Down, e cila rritet në mënyrë eksponenciale me moshën e nënës, gjasat për delecione dhe dublikacione janë të njëjta pavarësisht nga mosha. Kjo mund të shihet qartë në grafikun e mëposhtëm.
Delecionet dhe duplikacionet mund të ndodhin edhe te gratë shtatzëna më të reja, prandaj ekspertët rekomandojnë testin NIPT për të gjitha nënat në pritje, pavarësisht moshës.
Kontrolloni për anomali kromozomale me NIFTY nga GenePlanet.
Përveç trizomive më të zakonshme, NIFTY Plus analizon delecionet dhe duplikacionet, duke e bërë atë të përshtatshëm për të gjitha nënat e ardhshme.
Një test i tillë gjithëpërfshirës mundësohet nga teknologjia më e fundit e sekuencimit gjenetik. Ndryshe nga disa teste të tjera NIPT që analizojnë vetëm kromozomet e përzgjedhura dhe fragmentet e tyre, NIFTY Plus ju lejon të kontrolloni të gjitha kromozomet e fëmijës suaj.
Testi ofron disa opsione duke përfshirë testimin për trizomi të tjera, aneuploidi të kromozomeve seksuale dhe 60 sindroma të ndryshme të delecioneve dhe duplikacioneve.
Listën e klinikave ku mund të kryeni testin NIFTY mund ta gjeni këtu.
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