Journal of Assisted Reproduction and Genetics

, Volume 36, Issue 9, pp 1949–1955 | Cite as

Transfer of embryos with positive results following preimplantation genetic testing for monogenic disorders (PGT-M): experience of two high-volume fertility clinics

  • Andria G. BesserEmail author
  • Jennifer K. Blakemore
  • James A. Grifo
  • Emily L. Mounts



To assess the experiences of two large fertility clinics in which embryos with positive results following preimplantation genetic testing for monogenic disorders (PGT-M) were transferred upon patient request, in order to explore the nature of the conditions for which these requests have been made and review ethical considerations.


Retrospective review of previous embryo transfers at the NYU Langone Fertility Center and ORM Fertility was performed. Embryo transfers prior to May 2019 in which embryo biopsy and PGT-M occurred were reviewed, and transferred embryos that were positive for a monogenic disorder (excluding autosomal recessive carriers) were identified.


Seventeen patients were identified who elected to transfer 23 embryos that tested positive for nine different monogenic disorders. Most of the embryos transferred were positive for disorders that are autosomal dominant (15/23), are adult-onset (14/23), are associated with reduced penetrance (16/23), and have available management to lessen symptom severity (22/23). Transfer of positive embryos most commonly occurred for hereditary cancer susceptibility syndromes (9/23 embryos), particularly hereditary breast and ovarian cancer syndrome.


When unaffected embryos are not produced following in vitro fertilization with PGT-M, some patients request to transfer embryos with positive test results. The majority of transfers were for embryos positive for adult-onset, reduced penetrance diseases. As these requests will likely increase over time, it is essential to consider the practical and ethical implications.


Preimplantation genetic testing for monogenic disorders (PGT-M) Embryo biopsy Embryo transfer Genetic counseling Reproductive ethics 


Compliance with ethical standards

Approval for this study was obtained by the Institutional Review Board (IRB) of the New York University (NYU) School of Medicine (No. 13-00389) and the ORM Fertility Ethics Committee.


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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  1. 1.New York University Langone Fertility CenterNYU HealthNew YorkUSA
  2. 2.ORM FertilityPortlandUSA

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