Related Experiment Video
Updated: May 15, 2026
Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
Evaluation of targeted next-generation sequencing-based preimplantation genetic diagnosis of monogenic disease
Nathan R Treff1, Anastasia Fedick, Xin Tao
1Reproductive Medicine Associates of New Jersey, Morristown, NJ 07960, USA. ntreff@rmanj.com
Objective:
To investigate the applicability of next-generation sequencing (NGS) to preimplantation genetic diagnosis (PGD); to evaluate semiconductor-based NGS for genetic analysis of human embryos.
Design:
Blinded.
Setting:
Academic center for reproductive medicine.
Patient(S):
Six couples at risk of transmitting single-gene disorders to their offspring.
Intervention(S):
None.
Main Outcome Measure(S):
Embryonic genotype consistency of NGS with two independent conventional methods of PGD.
Result(S):
NGS provided 100% equivalent PGD diagnoses of compound point mutations and small deletions and insertions compared with both reference laboratory- and internally developed quantitative polymerase chain reaction (qPCR)-based analyses. Furthermore, NGS single-gene disorder screening could be performed in parallel with qPCR-based comprehensive chromosome screening.
Conclusion(S):
NGS can provide blastocyst PGD results with a high level of consistency with established methodologies. This study and its design could serve as a model for further development of this important and emerging technology.
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