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Updated: Sep 3, 2026
Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
Multicenter assessment of outcomes after intended or nonselective transfer of whole chromosome and segmental
Manuel Viotti1, Svetlana Madjunkova2, Andria Besser3
1Fontis Genomics, Secaucus, New Jersey; Zouves Foundation for Reproductive Medicine, Foster City, California.
Objective:
To evaluate the clinical outcome potential of embryos classified by preimplantation genetic testing for aneuploidy (PGT-A) as nonmosaic whole chromosome aneuploid (WCA) or segmental aneuploid (SA) in a large multicenter consortium study.
Design:
Multicenter retrospective cohort study.
Subjects:
Data were obtained from eight of the 26 fertility centers participating in the International Registry of Mosaic Embryo Transfers (IRMET) network that contributed nonmosaic WCA and SA embryo transfers between 2016 and 2026. The study included 250 embryo transfers (168 WCA and 82 SA) with complete clinical outcome documentation. Transfers were performed either with knowledge of the PGT-A result at the time of transfer or as nonselective transfers performed without knowledge of the PGT-A result.
Exposure:
Trophectoderm biopsy at blastocyst stage followed by PGT-A using whole-genome amplification (WGA) and next-generation sequencing (NGS).
Main Outcome Measures:
Pregnancy and neonatal outcomes.
Results:
Among 168 WCA transfers, including 111 performed without knowledge of the PGT-A result at the time of transfer, no live births occurred. Most transfers resulted in no pregnancy (78.6%), with smaller proportions showing biochemical pregnancy (8.3%), ectopic pregnancy (1.8%), early spontaneous abortion (9.5%), late spontaneous abortion (1.2%), or therapeutic termination (0.6%). In contrast, SA transfers (n = 82) resulted in a 17.1% live birth rate. Neonatal data available for 10 SA live births showed no differences in gestational age or birthweight compared with live births following euploid embryo transfer at the same centers, and prenatal or neonatal genetic testing were normal in all tested cases.
Conclusion:
In this large multicenter dataset of nonmosaic whole chromosome and segmental aneuploid embryo transfers, embryos classified as uniformly whole chromosome aneuploid produced no live births, whereas segmental aneuploid embryos retained a modest yet clinically meaningful potential for live birth. These findings support the biological validity of PGT-A classification of whole chromosome aneuploid embryos and highlight the distinct clinical implications of whole chromosome and segmental aneuploidies.
