Using comparison scenarios to improve prenatal risk communication.

Unlabelled: The present research provides empirical evidence of whether communicating the prenatal risk of chromosomal anomalies using comparison scenarios influences women's ability to distinguish between different risk levels. In 2 experiments, participants read a description of a hypothetical woman who was learning of the risk of chromosomal anomaly as a result of a prenatal screening test. Both experiments used a 3 (risk level) × 3 (scenario) full between-subjects design.

Evaluation of human gene variant detection in amplicon pools by the GS-FLX parallel Pyrosequencer.

Background: A new priority in genome research is large-scale resequencing of genes to understand the molecular basis of hereditary disease and cancer. We assessed the ability of massively parallel pyrosequencing to identify sequence variants in pools. From a large collection of human PCR samples we selected 343 PCR products belonging to 16 disease genes and including a large spectrum of sequence variations previously identified by Sanger sequencing.

Different approaches for noninvasive prenatal diagnosis of genetic diseases based on PNA-mediated enriched PCR.

The aim of this work was to develop advanced and accessible protocols for noninvasive prenatal diagnosis of genetic diseases. We are evaluating different technologies for mutation detection, based on fluorescent probe hybridization of the amplified product and pyrosequencing, a technique that relies on the incorporation of nucleotides in a primer-directed polymerase extension reaction. In a previous investigation, we have already proven that these approaches are sufficiently sensitive to detect a few copies of a minority-mutated allele in the presence of an excess of wild-type DNA, In this work, in order to further enhance the sensitivity, we have employed a mutant enrichment amplification strategy based on the use of peptide nucleic acids (PNAs).