Clinical application of polar body-based preimplantation genetic testing for maternal mutations in women with a limited number of oocytes

The PB-based strategy is feasible and effective for determining the mutation-carrier statuses of embryos in PGT-M for maternal mutations. Compared to blastocyst stage detection, this method may save a greater number of genetically unaffected embryos for patients. Further clinical trials are needed to determine whether PB biopsy is more beneficial than TE cell biopsy for women with disease-causing mutations and a limited number of oocytes in PGT-M.

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Publication Details

Journal
Orphanet Journal of Rare Diseases
Published
2025-04-01
DOI
https://doi.org/10.1186/s13023-025-03659-7
Citations
1
Primary Topic
Prenatal Screening and Diagnostics
Type
article
Field-Weighted Citation Impact
3.49

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article

Clinical application of polar body-based preimplantation genetic testing for maternal mutations in women with a limited number of oocytes

Xingwu Wu, Tao Ding, Zengming Li, Lifeng Tian et al.
1 citations
Orphanet Journal of Rare Diseases
Prenatal Screening and Diagnostics
3.49
article

Clinical application of polar body-based preimplantation genetic testing for maternal mutations in women with a limited number of oocytes

Xingwu Wu, Tao Ding, Zengming Li, Lifeng Tian, Jialyu Huang, Jia Chen, Ziyu Zhang, Qiongfang Wu, Ranhui Duan, Ge Chen, Yanqiu Liu, Yongyi Zou, Yan Zhao, Qiang Xu, Houyang Chen
article en
1 citations

Abstract

The PB-based strategy is feasible and effective for determining the mutation-carrier statuses of embryos in PGT-M for maternal mutations. Compared to blastocyst stage detection, this method may save a greater number of genetically unaffected embryos for patients. Further clinical trials are needed to determine whether PB biopsy is more beneficial than TE cell biopsy for women with disease-causing mutations and a limited number of oocytes in PGT-M.

Orphanet Journal of Rare DiseasesVol. 20(1)
Central South University (CN), Jiangxi Maternal and Child Health Hospital (CN)
National Natural Science Foundation of China, Natural Science Foundation of Jiangxi Province
Good health and well-being
Openalex Percentile: Top 11%
Prenatal Screening and Diagnostics
3.49
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Clinical application of polar body-based preimplantation genetic testing for maternal mutations in women with a limited number of oocytes — Xingwu Wu, Tao Ding, et al. · Orphanet Journal of Rare Diseases (2025) | TGRS Research Map | TGRS