PGD for Reciprocal Translocation Cases: State of the ART
16 October 2012
Balanced chromosomal abnormalities occur when one chromosome segment is fused onto another chromosome. They occur in about 1:500-600 of the general population, or approximately 12million people worldwide. Balanced translocation carriers generally show no phenotype but often have fertility issues, because when a single unbalanced chromosome is inherited from a carrier in an embryo, an imbalance is created. Imbalanced embryos generally result in a miscarriage, or (rarely) an affected child. Screening balanced translocation carrier embryos for chromosome imbalances has up until recently been performed using FISH. Recent data suggests that 24sure+, BlueGnome’s array technology for the detection of small imbalances in embryos, can more accurately determine balanced or euploid embryos for selection and hence may have a greater potential to select viable embryos for transfer.
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