title: Pre-implantation genetic testing in ART: who will benefit and what is the evidence?
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.
authors: G.EN.E.R.A. Centers for Reproductive Medicine, Rome, Italy.
authors: Alberto
authors: A
authors: Vaiarelli
authors: 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.
authors: Danilo
authors: D
authors: Cimadomo
authors: G.EN.E.R.A. Centers for Reproductive Medicine, Rome, Italy.|GENETYX, Molecular Biology Laboratory, Marostica, Italy.
authors: Antonio
authors: A
authors: Capalbo
authors: G.EN.E.R.A. Centers for Reproductive Medicine, Rome, Italy.
authors: Giovanna
authors: G
authors: Orlando
authors: G.EN.E.R.A. Centers for Reproductive Medicine, Rome, Italy.
authors: Fabio
authors: F
authors: Sapienza
authors: G.EN.E.R.A. Centers for Reproductive Medicine, Rome, Italy.
authors: Silvia
authors: S
authors: Colamaria
authors: Second University of Naples, Caserta, Italy.
authors: Antonio
authors: A
authors: Palagiano
authors: Physiopathology of Reproduction Unit, Cattolica General Hospital, Cattolica, Italy.
authors: Carlo
authors: C
authors: Bulletti
authors: G.EN.E.R.A. Centers for Reproductive Medicine, Rome, Italy.|GENETYX, Molecular Biology Laboratory, Marostica, Italy.
authors: Laura
authors: L
authors: Rienzi
authors: G.EN.E.R.A. Centers for Reproductive Medicine, Rome, Italy. ubaldi.fm@gmail.com.|GENETYX, Molecular Biology Laboratory, Marostica, Italy. ubaldi.fm@gmail.com.
authors: Filippo Maria
authors: FM
authors: Ubaldi
mesh_terms: D001755:Blastocyst; D010064:Embryo Implantation / Q000235:genetics; D004624:Embryo Transfer / Q000379:methods*; D005260:Female; D005820:Genetic Testing; D006801:Humans; D007247:Infertility, Female; D011247:Pregnancy; D018873:Pregnancy Rate; D019836:Preimplantation Diagnosis / Q000379:methods*; D027724:Reproductive Techniques, Assisted / Q000639:trends*; D058989:Vitrification
keywords: Aneuploidy testing; Blastocyst; Counselling; IVF; PGD; PGD-A