Reliability of polymerase chain reaction (PCR) analysis of single cells for preimplantation genetic diagnosis

Purpose We investigated the reliability of polymerase chain reaction (PCR) genotype analyses performed on single cells for the purposes of preimplantation genetic analysis.Methods We performed blind analysis of 130 single skin fibroblasts heterozygous for the -F508 mutation in the cystic fibrosis transmembrane regulator (CFTR) gene and 73 single skin fibroblasts from an individual heterozygous for the Xbapolymoporphic site of the Factor VIII gene.Results Amplification was successful for 116 cells and 52 cells respectively and in all but one case (a CFTR analysis) both alleles were amplified. The incidence of diagnostic error was 1 out of 203 analyses or 0.0043. We conclude that PCR is a reliable method for determining the genotype of single cells for the purposes of preimplantation genetic analysis.