Nama su kariogrami uredni. Prvi put smo radili PGD-FISH metodu gdje su testirali samo 8 kromosoma, blastomere, 3 dan od transfera. I nalaz svih 4 je pokazao abnormalnosti.
Drugi put smo odlučili ipak za blastocista jer se radi sa više genetskog materijala i radili smo tu sofisticiranije metodu NGS na 24 kromosoma.
A standard diagnosis covers all 24 chromosomes (22 chromosomes and 2 sex chromosomes– X and Y) and is performed for aneuploidies (chromosome number abnormalities), which in most cases result in the death of embryo. Others cause serious genetic defects, including Down, Turner, Edwards, Patau or Klinefelter syndromes. This method is also used in screening for mutations in single genes. The diagnostics has to be performed earlier in future parents in order to determine the risk in their case. A couple diagnosed with mutations threatening the foetus is referred for PGD testing adapted to this result.
Evo link neki što sam našla o tome. I meni je sve ovo novo.
https://www.invictaclinics.com/pre-i...on-sequencing/