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

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.

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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



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.




Academic center for reproductive medicine.


Six couples at risk of transmitting single gene disorders to their offspring.



Main Outcome Measure(s):

Embryonic genotype consistency of NGS with 2 independent conventional methods of PGD.


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.


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.

Read the full text at: http://www.fertstert.org/article/S0015-0282(12)02527-7/fulltext

Fertility and Sterility

Editorial Office, American Society for Reproductive Medicine

Fertility and Sterility® is an international journal for obstetricians, gynecologists, reproductive endocrinologists, urologists, basic scientists and others who treat and investigate problems of infertility and human reproductive disorders.