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Reproductive outcomes after preimplantation genetic testing in mosaic Turner syndrome: a retrospective cohort study of 100 cycles

  • Genetics
  • Published:
Journal of Assisted Reproduction and Genetics Aims and scope Submit manuscript

Abstract

Purpose

The purpose of this study is to explore the reproductive outcomes of women with Turner syndrome (TS) in preimplantation genetic testing (PGT) cycles.

Methods

A retrospective study of 100 controlled ovarian stimulating cycles, 68 TS (sixty-four mosaic Turner syndrome (MTS) and four pure Turner syndrome (PTS)) women underwent PGT was conducted from 2013 to 2018.

Results

Embryo X chromosome abnormal rates of TS women were significantly higher than women with normal karyotype (7.04 vs 1.61%, P<0.01). Cumulative live birth rates (CLBR) after PGT-NGS treatment were lower in TS than control (31.15 vs 45.59%, P<0.05). Clinical pregnancy rates per transfer (CPR), miscarriage rates (MR) and live birth rates per transfer (LBR) remained comparable between TS and control group. Reproductive outcomes (X chromosome abnormal rates, CPR, MR, LBR and CLBR) among low (<10%), medium (10–50%) and high (>50%) level 45,X mosaicism groups were not statistically different.

Conclusions

To avoid high risk of embryo X chromosome abnormalities, prenatal or preimplantation genetic testing should be recommended to mosaic or pure TS patients.

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Data Availability

The datasets analysed during the current study are available from the corresponding author on reasonable request.

Abbreviations

AFC:

antral follicle count

BMI:

body mass index

FISH:

fluorescent in situ hybridization

MTS:

mosaic Turner syndrome

NGS:

next-generation sequencing

PTS:

pure Turner syndrome

PGT:

preimplantation genetic testing

TS:

Turner syndrome

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Funding

This study was supported by the National Key Research and Development Program of China Project 2016YFC1000200, the National Natural Science Foundation of China (NO.81974230) and Hunan Provincial Grant for Innovative Province Construction (2019SK4012).

Author information

Authors and Affiliations

  1. Institute of Reproductive and Stem Cell Engineering, Central South University, Changsha, 410008, China

    Jingnan Liao, Dehua Cheng, Pingyuan Xie, Yueqiu Tan, Liang Hu, Guangxiu Lu, Fei Gong & Ge Lin

  2. Clinical Research Center For Reproduction and Genetics In Hunan Province, Changsha, 410008, China

    Keli Luo, Dehua Cheng, Pingyuan Xie, Yueqiu Tan, Liang Hu, Guangxiu Lu, Fei Gong & Ge Lin

  3. Reproductive and Genetic Hospital of CITIC-XIANGYA, Changsha, 410008, China

    Keli Luo, Dehua Cheng, Pingyuan Xie, Yueqiu Tan, Liang Hu, Guangxiu Lu, Fei Gong & Ge Lin

Authors
  1. Jingnan Liao
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  2. Keli Luo
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  3. Dehua Cheng
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  4. Pingyuan Xie
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  7. Guangxiu Lu
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  8. Fei Gong
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  9. Ge Lin
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Contributions

Jingnan Liao conceived of the study, participated in the design, obtained the data, performed the statistical analysis and drafted the manuscript. Keli Luo performed the controlled ovarian stimulating and frozen embryo transfer treatment. Dehua Cheng, Pingyuan Xie, Yueqiu Tan and Liang Hu carried out the genetic analysis. Guangxiu Lu participated in the design. Fei Gong participated in the design and edited the manuscript. Ge Lin gave advice to the statistical analysis and edited the manuscript. All authors read and approved the final manuscript.

Corresponding author

Correspondence to Ge Lin.

Ethics declarations

Ethical approval

The study was approved by the ethical committee of the CITIC-Xiangya Reproductive and Genetic Hospital (LL-SC-2020-009).

Consent for publication

Written informed consent for publication was obtained from all authors.

Competing interests

The authors stated that they do not have any commercial or associative interest that represents a conflict of interest in connection with the work submitted.

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Liao, J., Luo, K., Cheng, D. et al. Reproductive outcomes after preimplantation genetic testing in mosaic Turner syndrome: a retrospective cohort study of 100 cycles. J Assist Reprod Genet 38, 1247–1253 (2021). https://doi.org/10.1007/s10815-021-02127-y

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  • DOI: https://doi.org/10.1007/s10815-021-02127-y

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