Resources & Publications

The American College of Obstetricians and Gynecologists’ (ACOG) Committee on Genetics developed this opinion paper to draw attention to the present state of PGT technology and its clinical utility. The paper details how the three PGT DNA-based assays are currently used to address various aspects of infertility as well as its utility to eliminate vertical transmission of familial genetic disease. The authors reinforce the value of PGT-M and PGT-SR when used to identify embryos appropriate for uterine transfer that are free of familial monogenic disorders (PGT-M) and contain balanced/normal chromosomal content (PGT-SR) from translocation carriers. A discussion as to the clinical criteria necessary for the use of PGT-A is instructive, as the committee agrees PGT-A for aneuploidy detection is not yet a universal answer for the infertile population, but valuable for a subset of patients where its success has been well documented.

Organized in the form of a blog, this short and concise overview by ASRM, with illustrations, provides the general reader and couples considering PGT with an easily digestible introduction to the process. Covering PGT-A, -M, -SR, readers will gain information directly from the American Society of Reproductive Medicine experts on the importance of PGT in conjunction with IVF to achieve healthy live births. This article also links to other valuable information available on the ASRM host website for readers looking for additional information on topics of interest.

In this detailed article published in Genes, the reader can gain insight into the process and advancements in the detection of monogenic disorders and single-gene diseases using PGT-M. It also covers past, present, and future technologies that underpin the usefulness of PGT in the context of familial or de novo genetic diseases. The review stresses that PGT-M is a more complex methodology than PGT-A alone requiring a preclinical workup, genetic counseling, genetic report detailing the gene and variant in question, expertise in test design, and the merging of analytical methods that also provide information on chromosomal copy number. Interestingly, the authors address the future whereby DNA sequencing-based methods may provide an all-in-one solution to perform all aspects of PGT (A, M, & SR) from a single embryo sample using single platform such as NGS.

The authors of this review published in the International Journal of Molecular Sciences provide a comprehensive and detailed discussion of the PGT process covering the key steps from embryo biopsy to molecular methods used for embryo analysis to maternal and neonatal outcomes. The level of discussion is geared to practitioners of reproductive medicine but can be of value to the general public interested in learning some of the indications for infertility and approaches used to address specific treatment options based on patient medical history. The main focus is PGT-A, but details of the use of PGT-M for monogenic disorders are presented by the author as well. Included is a discussion of the underlying aspects of a phenomenon known as mosaicism and how it can be managed with respect to choosing the appropriate embryos for uterine transfer.

This informative and clear introduction to PGT-A by Claire O’Neill published in Fertility Space is of value to the general public exploring key aspects of the PGT-A technique. “Everything you need to know as an IVF patient about PGS/PGT-A for genetic testing of your embryos.” This overview addresses the basic questions interested couples may have about what the test can tell you, how the test works, and much more.

Results of this study from the University of Connecticut compared the effectiveness of three approaches for the detection of balanced/normal chromosomal content in embryos from couples who carry chromosomal translocations. Of the three different methods used in the study, the authors suggest that Next Generation Sequencing (NGS) yielded “an improvement in pregnancy outcomes parallel to the advancement in technology and are reassuring for continued use of NGS” for couples where one partner carries a translocation. By using NGS-based PGT-SR methods, these couples have a measured improvement in live-birth rates by avoiding the transfer of chromosomally abnormal embryos.