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Application of next-generation sequencing to preimplantation genetic testing for recurrent hydatidiform mole patients

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

Abstract

Purpose

To study the application of next-generation sequencing on preimplantation genetic testing for recurrent hydatidiform mole patients.

Methods

A total of ten recurrent hydatidiform mole patients aged 27–34 years with a history of at least twice hydatidiform moles and no normal pregnancy were collected from 2019 to 2020. The diagnosis of hydatidiform mole type was clarified using short tandem repeat genotyping on products of conception, and whole-exome sequencing was applied for all patients and their partners. Seven recurrent hydatidiform mole patients with complete hydatidiform mole/partial hydatidiform mole type among previous hydatidiform mole tissues and no Pathogenetic/Likely pathogenetic/Uncertain significance variants in NLRP7/KHDC3L/MEI1/C11orf80 underwent a procedure of preimplantation genetic testing. Next-generation sequencing for analyzing the copy number variants and the numbers of heterozygous single nucleotide polymorphism was adopted to clarify the ploidy and parental origin of the embryo chromosomes in vitro. Embryos with biparental diploidy were selected for transfer.

Results

Seven patients have undergone the procedure of preimplantation genetic testing, and twenty-three embryos were obtained, among which 82.6% (n = 19) were identified transferrable and 17.4% (n = 4) were identified aneuploid. Two patients have delivered healthy babies and another is currently in the second trimester after transfer.

Conclusion

Analyzing the copy number variants and the numbers of heterozygous single nucleotide polymorphism on the basis of next-generation sequencing can be utilized in the procedure of preimplantation genetic testing among part of recurrent hydatidiform mole patients. The current study is effective to reduce the occurrence of hydatidiform mole with improved clinical strategy, the advanced testing technology and analysis methods, as three of seven patients have conceived or delivered successfully.

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Funding

This work was supported by National Natural Science Foundation of China (81971440, 81671458) and the National Key Research and Development Program of China (2018YFC1002302).

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Authors and Affiliations

  1. Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking University Third Hospital, No. 49, North Garden Road, Haidian District, Beijing, 100191, China

    Jingyi Yang, Zhiqiang Yan, Xiaohui Zhu, Rong Li, Ping Liu, Liying Yan, Jie Qiao & Xu Zhi

  2. Department of Pathology, School of Basic Medical Sciences, Third Hospital, Peking University Health Science Center, Beijing, 100191, China

    Yan Liu

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  1. Jingyi Yang
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  2. Zhiqiang Yan
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  3. Yan Liu
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  4. Xiaohui Zhu
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  5. Rong Li
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  6. Ping Liu
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  7. Liying Yan
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  8. Jie Qiao
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  9. Xu Zhi
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Correspondence to Xu Zhi.

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Supplementary Information

Below is the link to the electronic supplementary material.

Supplementary file1 CNV in embryos for patients RHM1 (a), RHM2 (b), RHM3 (c), RHM5 (d), and RHM6 (e). (PDF 636 KB)

10815_2021_2325_MOESM2_ESM.pdf

Supplementary file2 Heterozygous SNP numbers analysis for the embryos of patients RHM1 (a), RHM2 (b), RHM3 (c), RHM5 (d) and RHM6 (e). The ratio is calculated as the numbers of heterozygous SNP of maternal/paternal versus embryo on all autosomes and chromosome X. (PDF 1580 KB)

Supplementary file3 SNP analysis of amniotic fluid cells from patient RHM4. (PDF 4371 KB)

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Yang, J., Yan, Z., Liu, Y. et al. Application of next-generation sequencing to preimplantation genetic testing for recurrent hydatidiform mole patients. J Assist Reprod Genet 38, 2881–2891 (2021). https://doi.org/10.1007/s10815-021-02325-8

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  • DOI: https://doi.org/10.1007/s10815-021-02325-8

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