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Updated: Jun 28, 2026

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
Preimplantation genetic screening in a case of recurrent trisomy 21 offspring
Susan B A Hudson1, Charles C Coddington, David L Walker
1Division of Reproductive Endocrinology and Infertility, Mayo Clinic, Rochester, Minnesota 55905, USA. hudson.susan@mayo.edu
Objective:
To describe a unique case of recurrent aneuploidy and the use of preimplantation genetic screening (PGS).
Design:
Case report.
Setting:
Midwest academic medical center.
Patient(S):
A 36-year-old woman with two trisomy 21 offspring.
Intervention(S):
Preimplantation genetic screening.
Main Outcome Measure(S):
Karyotype of embryos, liveborn eukaryotic infant.
Result(S):
Preimplantation genetic screening was performed on three cryopreserved embryos, followed by a two-embryo transfer yielding a eukaryotic infant.
Conclusion(S):
Preimplantation genetic screening may prove to be useful as a diagnostic tool to help ensure a euploid pregnancy when termination is not a viable option for a couple.
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