Evaluation of targeted next generation sequencing based preimplantation genetic diagnosis of monogenic disease

Capsule:
A methodology of next-generation sequencing was developed for preimplantation genetic diagnosis and found to be highly consistent with two independent methods of single-gene disorder screening.

Authors:
Nathan R. Treff, Ph.D., Anastasia Fedick, B.S., Xin Tao, M.S., Batsal Devkota, Ph.D., Deanne Taylor, Ph.D., Richard T. Scott, Jr., M.D.

Volume 99, Issue 5, Pages 1377-1384.e6, April 2013

Abstract:

Objective:
To investigate the applicability of next-generation sequencing (NGS) to preimplantation genetic diagnosis (PGD), this study aims 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 2 independent conventional methods of PGD.

Result(s):
NGS provided 100% equivalent PGD diagnoses of compound point mutations, and small deletions and insertions when compared to both a reference laboratory and internally developed 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 to established methodologies. This study and its design could serve as a model for further development of this unequivocally important and emerging technology.

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