Case Report: Discordant genetic findings in miscarriage tissue following transfer of euploid embryos
Year: 2026
Type: article
Study design: Case Report
Abstract: Background: Even after the transfer of euploid embryos selected by Preimplantation Genetic Testing for Aneuploidy (PGT-A), clinical pregnancies may still result in miscarriage. The subsequent detection of chromosomal copy number variations (CNVs) in the products of conception in some cases reflects the inherent limitations of PGT-A technology. Case report: Two couples underwent PGT-A treatments at assisted reproduction center of Northwest Women's and Children's Hospital, with the respective indications of recurrent pregnancy loss and advanced maternal age. For both, ovarian stimulation was conducted by an antagonist protocol, followed by intracytoplasmic sperm injection (ICSI). The embryos were cultured to the blastocyst stage, at which timepoint trophectoderm biopsy was performed. Following genetic analysis, available euploid blastocysts were identified for both couples. However, both pregnancies were identified as missed abortions during the first trimester after transferring one euploid blastocyst each. Subsequent CNV analysis carried out on the products of conception showed the presence of embryonic mosaicism. Conclusion: The two cases highlight the critical need for thorough patient counselling regarding the technical constraints as well as the potential risks of PGT-A. Additionally, they emphasize the indispensable value of prenatal diagnosis after transfer of euploid blastocyst identified by PGT-A.
Source: Frontiers in Reproductive Health
Authors: Haiyan Bai, Chunxi Zhang, Juanzi Shi
Institution: Northwest Women's and Children's Hospital
Language: English
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $3,077
OpenAlex ID: W7126170689