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J Assist Reprod Genet. 2016 Oct;33(10):1273-1278. Epub 2016 Aug 5.

Pre-implantation genetic testing in ART: who will benefit and what is the evidence?

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G.EN.E.R.A. Centers for Reproductive Medicine, Rome, Italy.
Dipartimento di Scienze Anatomiche, Istologiche, Medico Legali e dell'Apparato Locomotore, Sezione Istologia ed Embriologia Medica, University of Rome "Sapienza", Rome, Italy.
GENETYX, Molecular Biology Laboratory, Marostica, Italy.
Second University of Naples, Caserta, Italy.
Physiopathology of Reproduction Unit, Cattolica General Hospital, Cattolica, Italy.
G.EN.E.R.A. Centers for Reproductive Medicine, Rome, Italy.
GENETYX, Molecular Biology Laboratory, Marostica, Italy.


Pre-implantation genetic diagnosis for aneuploidy testing (PGD-A) is a tool to identify euploid embryos during IVF. The suggested populations of patients that can benefit from it are infertile women of advanced maternal age, with a history of recurrent miscarriages and/or IVF failures. However, a general consensus has not yet been reached.After the clinical failure of its first version based on cleavage stage biopsy and 9 chromosome-FISH analysis, PGD-A is currently performed by 24 chromosome screening techniques on trophectoderm (TE) biopsies. This approach has been clearly demonstrated to involve a higher clinical efficiency with respect to the standard care, in terms of sustained pregnancy rate per transfer and lower miscarriage rate. However, data about PGD-A efficacy calculated on a per intention-to-treat basis, as well as an analysis of its cost-effectiveness, are still missing.TE biopsy is a safe and extensively validated approach with low biological and technical margin of error. Firstly, the prevalence of mosaic diploid/aneuploid blastocysts is estimated to be between 0 and 16 %, thus largely tolerable. Secondly, all the comprehensive chromosome screening (CCS) technologies adapted to, or designed to conduct PGD-A are highly concordant, and qPCR in particular has been proven to show the lowest false positive error rate (0.5 %) and a clinically recognizable error rate per blastocyst of just 0.21 %.In conclusion, there is a sufficient body of evidence to support the clinical application of CCS-based PGD-A on TE biopsies. The main limiting factor is the need for a high-standard laboratory to conduct blastocyst culture, biopsy and vitrification without impacting embryo viability.


Aneuploidy testing; Blastocyst; Counselling; IVF; PGD; PGD-A

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