Evaluation of PCR-based preimplantation genetic diagnosis applied to monogenic diseases: a collaborative ESHRE PGD consortium study

摘要: Preimplantation genetic diagnosis (PGD) for monogenic disorders currently involves polymerase chain reaction (PCR)-based methods, which must be robust, sensitive and highly accurate, precluding misdiagnosis. Twelve adverse misdiagnoses reported to the ESHRE PGD-Consortium are likely an underestimate. This retrospective study, involving six PGD centres, assessed validity of PCR-based through reanalysis untransferred embryos from monogenic-PGD cycles. Data were collected on genotype concordance at follow-up 940 embryos, including details parameters cycles: category disease, embryo morphology, biopsy assay strategy. To determine PGD, sensitivity (Se), specificity (Sp) diagnostic accuracy calculated. Stratified analyses also conducted assess influence above PGD. The analysis overall data showed that 93.7% had been correctly classified time with Se 99.2% Sp 80.9%. stratified found is statistically significantly higher when performed two cells versus one cell (P=0.001). was multiplex protocols singleplex applied (P=0.005), as well good compared poor morphology (P=0.032). Morphology, however, did not affect accuracy. Multiplex methods cell, robust those regarding false negative rate, most important criteria clinical applications. Overall, this study demonstrates validity, robustness high value