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Implementing PGD/PGD-A in IVF clinics: considerations for the best laboratory approach and management

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Abstract

For an IVF clinic that wishes to implement preimplantation genetic diagnosis for monogenic diseases (PGD) and for aneuploidy testing (PGD-A), a global improvement is required through all the steps of an IVF treatment and patient care. At present, CCS (Comprehensive Chromosome Screening)-based trophectoderm (TE) biopsy has been demonstrated as a safe, accurate and reproducible approach to conduct PGD-A and possibly also PGD from the same biopsy. Key challenges in PGD/PGD-A implementation cover genetic and reproductive counselling, selection of the most efficient approach for blastocyst biopsy as well as of the best performing molecular technique to conduct CCS and monogenic disease analysis. Three different approaches for TE biopsy can be compared. However, among them, the application of TE biopsy approaches, entailing the zona opening when the expanded blastocyst stage is reached, represent the only biopsy methods suited with a totally undisturbed embryo culture strategy (time lapse-based incubation in a single media). Moreover, contemporary CCS technologies show a different spectrum of capabilities and limits that potentially impact the clinical outcomes, the management and the applicability of the PGD-A itself. In general, CCS approaches that avoid the use of whole genome amplification (WGA) can provide higher reliability of results with lower costs and turnaround time of analysis. The future perspectives are focused on the scrupulous and rigorous clinical validations of novel CCS methods based on targeted approaches that avoid the use of WGA, such as targeted next-generation sequencing technology, to further improve the throughput of analysis and the overall cost-effectiveness of PGD/PGD-A.

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Authors and Affiliations

  1. GENERA Centers for Reproductive Medicine, Marostica, Italy

    Antonio Capalbo, Danilo Cimadomo, Marta Stoppa, Lisa Dovere, Filippo Maria Ubaldi & Laura Rienzi

  2. GENETYX, Molecular Biology Laboratory, Marostica, Italy

    Antonio Capalbo, Valeria Romanelli, Laura Girardi, Filippo Maria Ubaldi & Laura Rienzi

  3. Dipartimento di Scienze Anatomiche, Istologiche, Medico Legali e dell’Apparato Locomotore, Sezione Istologia ed Embriologia Medica, University of Rome “Sapienza”, Rome, Italy

    Danilo Cimadomo

  4. Laboratorio di Genetica Medica, Presidio ospedaliero di Matera, Matera, Italy

    Domenico Dell’Edera

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  1. Antonio Capalbo
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Correspondence to Antonio Capalbo.

Additional information

Future efforts will focus on clinical validation of novel CCS methods based on approaches replacing the use of WGA with targeted next-generation sequencing technology, to improve the throughput of analysis and the overall cost effectiveness of PGD/PGD-A.

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Capalbo, A., Romanelli, V., Cimadomo, D. et al. Implementing PGD/PGD-A in IVF clinics: considerations for the best laboratory approach and management. J Assist Reprod Genet 33, 1279–1286 (2016). https://doi.org/10.1007/s10815-016-0768-3

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  • DOI: https://doi.org/10.1007/s10815-016-0768-3

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