Application of a new molecular technique for the genetic evaluation of products of conception (pages 32–41)
Francesca R. Grati, Denise Molina Gomes, Devika Ganesamoorthy, Livia Marcato, Simona De Toffol, Eleonore Blondeel, Francesca Malvestiti, Laurence Loeuillet, Anna Maria Ruggeri, Robert Wainer, Federico Maggi, Azzedine Aboura, Celine Dupont, Anne Claude Tabet, Fabien Guimiot, Howard R. Slater, Giuseppe Simoni and François Vialard
Version of Record online: 20 NOV 2012 | DOI: 10.1002/pd.4004
What's already known about this topic?
- Karyotyping is the gold standard for genetic investigation of POCs; however, it is considered a labor-intensive and comparatively costly technique.
- BoBs™ is a new molecular technique for accurate, rapid and robust detection of common aneuploidies and nine microdeletion syndromes. On the basis of the robust experience recently obtained with this assay, we evaluated the same technology for the analysis of POCs and prenatal samples.
What does this study add?
- KaryoLite™ BoBs™ showed suitable performances to efficiently analyze the genetic content of POC samples.
- Beneficial and clearly enhanced POC testing was demonstrated by a new genetic testing algorithm using BoBs™ as a ‘first-tier’ test in combination with other cytogenetic and molecular approaches for aneuploidy screening.