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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?

Author information

1
G.EN.E.R.A. Centers for Reproductive Medicine, Rome, Italy.
2
Dipartimento di Scienze Anatomiche, Istologiche, Medico Legali e dell'Apparato Locomotore, Sezione Istologia ed Embriologia Medica, University of Rome "Sapienza", Rome, Italy.
3
GENETYX, Molecular Biology Laboratory, Marostica, Italy.
4
Second University of Naples, Caserta, Italy.
5
Physiopathology of Reproduction Unit, Cattolica General Hospital, Cattolica, Italy.
6
G.EN.E.R.A. Centers for Reproductive Medicine, Rome, Italy. ubaldi.fm@gmail.com.
7
GENETYX, Molecular Biology Laboratory, Marostica, Italy. ubaldi.fm@gmail.com.

Abstract

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.

KEYWORDS:

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

PMID:
27491771
PMCID:
PMC5065560
DOI:
10.1007/s10815-016-0785-2
[Indexed for MEDLINE]
Free PMC Article

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