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Czym jest aneuploidia w kontekście badania NIFTY pro?

Aneuploidia chromosomowa to mutacja genetyczna, która polega na nieprawidłowej liczbie chromosomów w komórce. Czym jest aneuploidia w kontekście badania NIFTY pro? Jakie aneuploidie wykrywa test NIFTY Pro? Odpowiadamy na te pytania.

Spis treści:

1. Czym jest aneuploidia w kontekście badania NIFTY pro?
2. Czym skutkuje aneuploidia?
3. Jakie aneuploidie bada NIFTY pro?

Czym jest aneuploidia w kontekście badania NIFTY pro?

Aneuploidia to zaburzenie dotyczące ilości materiału genetycznego. Mutacja liczbowa może wynikać z ubytku lub z obecności nadmiarowych chromosomów w komórce [1]. Przykładem aneuploidii w kontekście badania NIFTY pro jest trisomia, czyli obecność dodatkowego, trzeciego chromosomu. Najczęstszą trisomią jest zespół Downa, czyli trisomia 21. chromosomu [2].

Czym skutkuje aneuploidia?

Aneuploidie mają zwykle charakter patogenny. W przypadku trisomii charakterystyczne objawy to między innymi [3]: cechy dysmorfii, opóźnienie intelektualne, a także liczne wady rozwojowe (np. serca, endokrynologiczne, hematologiczne lub neurologiczne). Niektóre aneuplodie, jak np. zespół Edwardsa czy zespół Patau są letalne [4]. Stopień zaawansowania objawów zależy od rodzaju oraz rozległości zaburzeń genetycznych.

Jakie aneuploidie bada NIFTY pro?

Test NIFTY pro analizuje 23 pary chromosomów za pomocą technologii Sekwencjonowania Nowej Generacji, NGS (Next Generation Sequencing). Jeśli chodzi o aneuploidie, zakres badania obejmuje trisomię 21. (zespół Downa), trisomię 13. (zespół Patau), trisomię 18. (zespół Edwardsa oraz trisomie 9., 16. i 22. chromosomu [5]. Warto wykonać badanie NIFTY pro warto, aby sprawdzić zdrowie dziecka i odzyskać spokój w ciąży.

Źródła:

1. Macura B., Sura P. Zjawisko aneuploidii — znaczenie biologiczne i konsekwencje medyczne. Przegląd Lekarski 2018 /75/03.

2. Hultén MA. et al. On the origin of trisomy 21 Down syndrome. Mol Cytogenet. 2008 Sep 18; 1:21. doi: 10.1186/1755-8166-1-21. PMID: 18801168; PMCID: PMC2564957.

3. https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/trisomy-disorders [dostęp 2022-10-03]

4. https://www.pbkm.pl/pregnancy-zone-2/choroby-w-ciazy/wady-letalne-rodzaje-i-diagnostyka-czym-sa [dostęp 2022-10-03]

5. https://www.niftytest.com/ [dostęp 2022-10-03]

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