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Updated: Mar 31, 2026
Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
Cytogenetic and Microarray Analysis Follow-Up of PGT-A Mosaic and Sex Discrepant Embryos During Pregnancy: Absence of
Laura A Kline1, Vanessa A Nitibhon2,3, Erica L Soster4
1Center for Molecular Biology and Pathology, Labcorp, Research Triangle Park, North Carolina, USA.
Objectives:
The objective of this study was to examine the concordance of results between mosaic pre-implantation genetic testing for aneuploidy (PGT-A) and diagnostic testing in resulting pregnancies conceived by IVF with PGT-A.
Methods:
This study retrospectively provides analysis of 328 patients ascertained due to a mosaic PGT-A finding and 25 with a discordant reported sex, studied prenatally, utilizing standard karyotype and/or SNP microarray analysis.
Results:
None of the 328 mosaic PGT-A findings were confirmed by the diagnostic prenatal studies with karyotype and/or microarray analysis. Additionally, of the 298 prenatal microarray studies performed, five demonstrated pathogenic abnormalities (1.7%) that were unrelated to PGT-A referral. Thirty-four of these cases were also studied to determine if UPD occurred; all were biparental.
Conclusions:
This work emphasizes the importance of PGT-A follow-up and demonstrates that the vast majority will have normal diagnostic results and only a small number will be confirmed using prenatal diagnostic analysis. This work also suggests the most efficient way to proceed with diagnostic follow-up studies. Additionally, it shows the importance of fetal sex confirmation in all normal PGT-A studies.
