Next-generation sequencing analysis of embryos from mosaic patients undergoing in vitro fertilization and preimplantation genetic testing

Mosaic patients with autosome aneuploidies have more embryos with unbalanced translocations for the involved chromosomes compared with those with sex chromosome aneuploidy.

Volume 112, Issue 2, Pages 291–297.e3


Keli Luo, M.D., Ph.D., Yueyun Lan, B.Sc., Pingyuan Xie, Ph.D., Fei Gong, M.D., Ph.D., Bo Xiong, Ph.D., Yueqiu Tan, Ph.D., Shuang Zhou, B.Sc., Zhihong Yang, D.V.M., Ph.D., Ge Lin, M.D., Ph.D., Liang Hu, M.D., Ph.D.



To investigate the effects of parental mosaicism on their preimplantation embryos.


Case series.


An institute for reproductive and stem cell engineering.


Sixty-eight mosaic couples.


Assisted reproduction with preimplantation genetic testing (PGT).

Main Outcome Measure(s)

Karyotypes, embryo-related chromosomal abnormalities, and PGT results.


A total of 209 embryos were obtained from 68 mosaic couples, and 153 (73.21%) of 209 of the total embryos were obtained from 55 mosaic couples with abnormal sex chromosome numbers. Of these 153 embryos, 2 (1.31%) had an abnormal copy number of X chromosome, 1 had mosaicism with 46,XN,+X(mosaic, 40%), 1 (0.65%) had an extra Y chromosome, 3 (1.96%) exhibited both X chromosomal and autosomal abnormalities, and 4 (2.61%) exhibited de novo X chromosome structural abnormalities. A total of 56 (26.79%) of 209 embryos were obtained from mosaic couples (n = 13) with abnormal autosomal structures. Notably, of these 56 embryos, 5 (8.93%) had a 16q21-q24.3 copy number abnormality related to the parental karyotype, with a fragile site at 16q22; 5 (7.14%) exhibited 46,XX,dup(8p23.1–8p11.21) and 46,XY,del(8p22–8p11.21), which were related to the parental karyotype; and 10 (17.86%) were de novo chromosome abnormalities.


Our data demonstrate that the risk of embryo-related chromosome abnormalities in mosaic patients with abnormal sex chromosomes is very low. Therefore, PGT may not need to be recommended for mosaic patients with abnormal copy numbers of sex chromosomes, especially for patients with financial difficulties. By contrast, the mosaic patients with structural abnormalities of autosomes may have a relatively high risk of abnormal embryos with an unbalanced segment of the involved chromosomes. Thus, PGT is highly recommended for mosaic patients with autosomal structure abnormalities, especially those with a fragile site at 16q22.

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