Preimplantaciono genetičko testiranje
Sažetak
UVOD: Primena preimplantacionog genetičkog testiranja (PGT) otpočela je kasnih osamdesetih godina prošlog veka. Preimplantaciono genetičko testiranje kao najraniji mogući vid prenatalne dijagnostike omogućava selekciju zdravih embriona sa normalnim kariotipom za embriotransfer.
Upotreba preimplantacionog genetičkog testiranja se pokazala korisnom metodom kod tri grupe naslednih bolesti, i to: monogenskih bolesti, bolesti trinukleotidnih ponovaka i hromozomskih aberacija.
Stopa uspeha vantelesne oplodnje (VTO) značajno je porasla nakon što je PGT uveden u kliničku praksu.
CILJ: U našem radu dat je pregled literature sa ciljem jasnog utvrđivanja uloge PGT-a u selekciji embriona pre embriotransfera, kao i uloge ove vrste testiranja u povećanju stope uspeha VTO. Jedan od ciljeva je i osvrt na razvoj molekularno genetičkih metoda koje su trenutno, ili su ranije bile, u rutinskoj upotrebi prilikom izvođenja PGT-a.
ZAKLJUČAK: Aktuelna literatura pokazatelj je razvoja i napretka tehnika molekularne genetike koje se primenjuju u PGT-u. Istovremeno daje mogućnost i podsticaj za dalja opsežna istraživanja koja će dovesti do unapređenja samog preimplantacionog genetičkog testiranja, a samim tim povećati stopu uspeha vantelesne oplodnje.
Reference
2. Traeger-Synodinos J, Staessen C. Preimplantation genetic diagnosis. In Sermon K VS. Textbook of Human Reproductive Genetics. Third Edition ed.: Cambridge University Press; 2014. p. 347-79.
3. Harper J. Preimplantation genetic diagnosis. In Elder K, Dale B. In-Vitro Fertilization. Third Edition ed.: Cambridge University Press; 2011. p. 238-51.
4. Yaron Y, Hiersch L, Gold V, Peleg-Schalka S, Malcov M. Genetic analysis of the embryo. In Gardner D, Weissman A, Howles C, Shoham Z. Textbook of Assisted Reproductive Techniques. Volume 1: Laboratory Perspectives. Fifth Edition ed.: CRC Press; 2018. p. 359-72.
5. Montag M. Polar body biopsy and its clinical application. In Gardner D, Weissman A, Howles C, Shoham Z. Textbook of Assisted Reproductive Techniques. Volume 1: Laboratory Perspectives. Fifth Edition ed.: CRC Press; 2018. p. 339-49.
6. Yatsenko S, Rajkovic A. Chromosomal causes of infertility. In Sermon K, Viville S. Textbook of Human Reproductive Genetics.: Cambridge University Press; 2014. p. 213-48.
7. Stouffs K, Lissens W, Seneca S. Severe male factor infertility. In Gardner D, Weissman A, Howles C, Shoham Z. Textbook of Assisted Reproductive Techniques. Volume 1: Laboratory Perspectives. Fifth Edition ed.: CRC Press; 2018. p. 326-38.
8. Maxwell S, Colls P, Hodes-Wertz B, McCulloh D, McCaffrey C, Wells D, et al. Why do euploid embryos miscarry? A case-control study comparing the rate of aneuploidy within presumed euploid embryos that resultet in misscarriage or live birth using next - generation sequencing. Fertility Sterility. 2016; 106(6): p. 1414-19.
9. Sallevelt S, Dreesen J, Drusedau M, Spierts S, Coonen E, van Tienen F, et al. Preimplantation genesis diagnosis in mitochondrial DNA disorders: challenge and success. Journal of Medical Genetics. 2013; 50(2): p. 125-32.
10. Kofinas J, McCaffrey C, Grifo J. Human embryo biopsy procedures. In Gardner D, Weissman A, Howles C, Shoham Z. Textbook of Assisted Reproductive Techniques. Volume 1: Laboratory Perspectives. Fifth Edition ed.: CRC Press p. 168-76.
11. Carlson B. Cleavage and Implantation. In Carlson B. Human Embryology and Developmental. Fifth Edition ed.: Saunders; 2013.
12. Carlson B. Formation of Germ Layers and Early Derivatives. In Carlson B. Human Embryology and Developmental Biology. Fifth Edition ed.: Saunders; 2013.
13. Baart E, Van Opstal D. Chromosomes in early human embryo development. In Sermon K, Viville S. Textbook of Human Reproductive Genetics.: Cambridge University Press; 2014. p. 117-51.
14. Lewin J, Wells D. Preimplantation genetic diagnosis for infertility. In Gardner D, Weissman A, Howles C, Shoham Z. Textbook of Assisted Reproductive Techniques. Volume 1: Laboratory Perspectives. Fifth Edition ed.: CRC Press; 2018. p. 350-58.
15. Maggiulli R, Giancani A, Cimadomo D, Ubaldi F, Rienzi L. Human Blastocyst Biopsy and Vitrification. J Vis. 2019.
16. Slater H, Bayle D, Ren H, Cao M, Bell K, Nasioulas S, et al. High-Resolution Identification of Chromosomal Abnormalities Using Oligonucleotide Arrays Contining 116,204SNPs. The American Jurnal of Human Genetics. 2008; vol. 77(issue 5): p. 709-726.
17. Kumar P, Zamani Esteki M, van Der Aa N, Voet T. How to analyze a single blastomere: Application of whole genome technologies: microarrays and next generation sequencing. In Sermon K VS. Textbook of Human Reproductive Genetics.: Cambridge University Press; 2014. p. 42-77.