Application of a new molecular technique for the genetic evaluation of products of conception

作者：Grati Francesca R^*; Gomes Denise Molina; Ganesamoorthy Devika; Marcato Livia; De Toffol Simona; Blondeel Eleonore; Malvestiti Francesca; Loeuillet Laurence; Ruggeri Anna Maria; Wainer Robert; Maggi Federico; Aboura Azzedine; Dupont Celine; Tabet Anne Claude; Guimiot Fabien; Slater Howard R; Simoni Giuseppe; Vialard Francois

来源：Prenatal Diagnosis, 2013, 33(1): 32-41.

DOI：10.1002/pd.4004

Objectives Karyotyping is a well-established method of investigating the genetic content of product of conceptions (POCs). Because of the high rate of culture failure and maternal cell contamination, failed results or 46,XX findings are often obtained. Different molecular approaches that are not culture dependent have been proposed to circumvent these limits. On the basis of the robust experience previously obtained with bacterial artificial chromosomes (BACs)-on-Beads (TM) (BoBs (TM)), we evaluated the same technology that we had used for the analysis of prenatal samples on POCs. Method KaryoLite (TM) BoBs (TM) includes 91 beads, each of which is conjugated with a composite of multiple neighboring BACs according to the hg19 assembly. It quantifies proximal and terminal regions of each chromosome arm. The study included 376 samples. Results The failure rate was 2%, and reproducibility %26gt;99%; false-positive and false-negative rates were %26lt;1% for non-mosaic aneuploidies and imbalances effecting all three BACs in a contig. Detection rate for partial terminal imbalances was 65.5%. The mosaic detection threshold was 50%, and the success rate in macerated samples was 87.8%. The aneuploidy detection rate in samples with cell growth failure was 27.8%, and maternal cell contamination was suspected in 23.1% of 46,XX cultured cells. Conclusion KaryoLite (TM) BoBs (TM) as a first-tier test in combination with other approaches showed beneficial, cost-effective and clearly enhanced POC testing.

• 出版日期2013-1