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A systematic review of noninvasive preimplantation genetic testing for aneuploidy

Cengiz Cinnioğlu, Heather Glessner, Amy S. Jordan, Sydney Bunshaft

2023Fertility and Sterility23 citationsDOIOpen Access PDF

Abstract

Noninvasive and minimally invasive preimplantation genetic testing for aneuploidy (PGT-A) is a tool that may one day become the gold standard for embryonic chromosomal screening. Investigations on this topic have ranged from studying the culture media of embryos to the fluid inside the blastocoel, all in an attempt to find a reliable source of DNA without the need to biopsy the embryo. There is great interest across the board, both from those for and against biopsy, in a reliable test process that would give the patient and provider the same information possible from a biopsy without the risk. We aim to explore the current available research to better understand the utility and accuracy of PGT-A with these new sampling techniques. General concordance rates in comparison with biopsy-based PGT-A are promising, but it is clear that additional research and understanding are needed before adopting noninvasive and minimally invasive PGT-A as a widely used tool with strong clinical utility.

Topics & Concepts

ConcordanceGenetic testingAneuploidyBiopsyGold standard (test)Sampling (signal processing)MedicineBiologyBioinformaticsObstetricsComputer sciencePathologyGeneticsRadiologyInternal medicineGeneComputer visionChromosomeFilter (signal processing)Prenatal Screening and DiagnosticsGenomic variations and chromosomal abnormalitiesFetal and Pediatric Neurological Disorders
A systematic review of noninvasive preimplantation genetic testing for aneuploidy | Litcius