Comparison of Chromosomal Status in Reserved Multiple Displacement Amplification Products of Embryos That Resulted in Miscarriages or Live Births: a Blinded, Nonselection Case-control Study

Overview

Journal BMC Med Genomics

Publisher Biomed Central

Specialty Genetics

Date 2022 Feb 24

PMID 35197054

Authors

Guoxia Yang

Yan Xu

Yanhong Zeng

Jing Guo

Jiafu Pan

Canquan Zhou

Yanwen Xu

Affiliations

Soon will be listed here.

Abstract

Objective: To analyze chromosomal status in reserved multiple displacement amplification (MDA) products of embryos that result in miscarriages or live births.

Methods: Patients who underwent preimplantation genetic testing for monogenic disorders (PGT-Ms) without aneuploidy screening were included. The case group included 28 cycles that resulted in miscarriages. Controls included 56 cycles with live births. Comprehensive chromosomal screening (CCS) using next-generation sequencing (NGS) was performed on reserved MDA products from previous blastocyst trophectoderm biopsies. The incidence and type of chromosomal abnormalities in embryos resulting in miscarriages or live births were analyzed.

Results: Of 28 embryos resulting in miscarriages in the case group, the rate of chromosomal abnormalities was 53.6%, which was significantly greater than 14.3% for those resulting in live births in control group (P < 0.001). Whole-chromosome aneuploidy was not found in the control group but was noted in 25.0% of embryos in the case group. Although the rates of segmental abnormality and mosaicism were also greater in the case group, no significant differences were detected. One chaotic embryo in the control group progressed to live birth.

Conclusion: Chromosomal abnormalities were the main reason leading to early pregnancy loss. However, abnormalities, such as segmental aneuploidy and mosaicism, should be managed cautiously, considering their undermined reproductive potential.

Citing Articles

Comparison of euploid blastocyst expansion with subgroups of single chromosome, multiple chromosome, and segmental aneuploids using an AI platform from donor egg embryos.

Hori K, Hori K, Kosasa T, Walker B, Ohta A, Ahn H J Assist Reprod Genet. 2023; 40(6):1407-1416.

PMID: 37071320 PMC: 10310614. DOI: 10.1007/s10815-023-02797-w.

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