Clinical Outcomes of Single Mosaic Embryo Transfer: High-Level or Low-Level Mosaic Embryo, Does it Matter?

• Main Authors: Pin-Yao Lin, Chun-I Lee, En-Hui Cheng, Chun-Chia Huang, Tsung-Hsien Lee, Hui-Hsin Shih, Yi-Ping Pai, Yi-Chun Chen, Maw-Sheng Lee
• Format: Article
• Language: English
• Published: MDPI AG 2020-06-01
• Series: Journal of Clinical Medicine
• Subjects: in vitro fertilization; preimplantation genetic testing for aneuploidy; aneuploidy; mosaic embryo; next-generation sequencing
• Online Access: https://www.mdpi.com/2077-0383/9/6/1695

Recently, reports showed that embryos identified as mosaic after preimplantation genetic testing for aneuploid (PGT-A) could result in live birth with lower pregnancy and higher pregnancy loss rates compared with euploid embryos. However, the effects of mosaicism level on reproductive outcomes remain controversial. This study aimed to examine the level of mosaicism on pregnancy outcomes. Single mosaic embryo transfer was offered to 108 women who only had mosaic embryos. Mosaic embryos were labeled by utilizing next generation sequencing (NGS) based PGT-A for day 5/6 trophectoderm (TE)biopsies. TE biopsies containing < 50% abnormal cells were classified as low-level mosaicism and ≥ 50% as high-level mosaicism. To further confirm the concordance of chromosome constitution between TE and inner cell mass (ICM), 41 remaining embryos designated as mosaic blastocysts donated for research were also analyzed. Comparable live birth rate (LBR) but higher miscarriage rate (MR) was found in the high-level group. (LBR: low vs. high: 44.5% vs. 36%; <i>p </i>= 0.45, MR: low vs. high: 5.1% vs. 30.7%; <i>p </i>= 0.012). Analyses of TE and ICM from the remaining mosaic blastocysts show a poor concordance. This preliminary study demonstrated that high-level mosaic embryos could result in comparable LBR but higher MR.