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Updated: May 25, 2026
Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
Comprehensive chromosome screening is highly predictive of the reproductive potential of human embryos: a
Richard T Scott1, Kathleen Ferry, Jing Su
1Reproductive Medicine Associates of New Jersey, Morristown, New Jersey 07960, USA.
Objective:
To determine both the negative and positive predictive values of comprehensive chromosome screening (CCS) results for clinical outcome.
Design:
Data obtained from two prospective, double-blinded, nonselection studies.
Setting:
Academic center for reproductive medicine.
Patient(S):
One hundred forty-six couples with a mean maternal age of 34.0 ± 4.4 years and a mean paternal age of 37.3 ± 5.8 years.
Intervention(S):
Embryo biopsy for DNA fingerprinting and aneuploidy assessment.
Main Outcome Measure(S):
Failure rate of embryos predicted aneuploid by CCS (negative predictive value) and success rate of embryos predicted euploid by CCS (positive predictive value).
Result(S):
A total of 255 IVF-derived human embryos were cultured and selected for transfer without influence from CCS analysis. Embryos were biopsied before transfer, including 113 blastomeres at the cleavage stage and 142 trophectoderm biopsies at the blastocyst stage. Comprehensive chromosome screening was highly predictive of clinical outcome, with 96% of aneuploid predicted embryos failing to sustain implantation and 41% sustained implantation from embryos predicted to be euploid.
Conclusion(S):
These nonselection data provide the first prospective, blinded, clinical study directly measuring the predictive value of aneuploidy screening for clinical outcome. The clinical error rate of an aneuploidy designation is very low (4%), whereas implantation and delivery rates of euploid embryos are increased relative to the entire cohort of transferred embryos.
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