Author Interviews, Genetic Research, OBGYNE / 02.06.2014
IVF: Preimplantation Genetic Screening Improved with Next Generation Sequencing
MedicalResearch.com Interview with :
Dr. Francesco Fiorentino
CEO and Lab Director
ROME - ITALY
MedicalResearch: What are the main findings of the study?
Dr. Fiorentino: This study describes findings from first and second of a three-phase strategy to validate the use of next-generation sequencing (NGS) for comprehensive aneuploidy screening, as a preclinical step toward its routine use in the diagnosis of chromosomal aneuploidy on embryos. The first phase involved a large preclinical validation study on single cells, and demonstrated that the NGS-based 24-aneuploidy screening protocol was accurate and reliable. The results provided 100% consistency for aneuploid embryo call with array-CGH, the highly validated method of aneuploidy screening.
The second phase of the study, instead, focused on the clinical application of the NGS-based protocol for the detection of all chromosomes in embryos. A prospective trial involving analysis of human embryos at the blastocyst stage of development was designed for this purpose, in order to establish similar levels of chromosome-specific NGS copy number assignment concordance compared with 24sure array as those observed in the first phase of the study. Consistency of NGS-based aneuploidy detection was assessed matching the results obtained with array-CGH–based diagnoses,
Embryos obtained from 55 consecutive clinical PGS cycles, blindly assessed in parallel with both NGS and array-CGH techniques, displayed 100% concordance for aneuploid embryo call. Consistency obtained during this investigation was similar to those obtained in the first phase of the study that used NGS to examine single cell samples, demonstrating the reliability of the NGS-based method in detection of chromosome aneuploidy also in embryos at blastocyst stage derived from clinical preimplantation genetic screening (PGS) cycles. The clinical outcomes obtained in this study from preimplantation genetic screening cycles performed with the NGS approach were very encouraging, resulting in a clinical pregnancy rate per embryo transfer of 63.8% (mean age 38.5+2.1 years) and an ongoing implantation rate of 64.0%, values that are comparable with recent results from other comprehensive chromosome screening approaches.
In conclusion, the results achieved in this study demonstrate the reliability of the NGS-based protocol for detection of whole chromosome aneuploidies, mosaicism occurrences and segmental changes in embryos.
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