Reproductive outcomes after preimplantation genetic testing in mosaic Turner syndrome: a retrospective cohort study of 100 cycles
Open accessAbstract
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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Sex chromosome abnormalities may be more common in the pregnancies of individuals with TS.
“Sex chromosome abnormalities may be more common in the pregnancies of individuals with TS.11,587,588”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [587]
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Clinical practice guidelines for the care of girls and women with Turner syndrome.
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- Authors
- Liao, J., Luo, K., Cheng, D., Xie, P., Tan, Y., Hu, L., Lu, G., Gong, F., & Lin, G.
- Affiliations
- Central South University (CN)
- Reproductive & Genetic Hospital CITIC-Xiangya (CN)
- Corresponding author
- Lin, Ge
- Venue
- Journal of Assisted Reproduction and Genetics
- Published
- 2021-03-06
- Volume
- 38
- Issue
- 5
- Pages
- 1247-1253
- ISSN
- 0740-7769 (ISSN-L)
- 1058-0468
- 1573-7330
- PMC
- PMC8190244
- OpenAlex
- W3134094639
- Cited by
- 19
- References
- 29
- Citations by year
- 2026: 5 · 2025: 2 · 2024: 8 · 2023: 3 · 2022: 1
- FWCI
- 2.97
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Journal of Assisted Reproduction and Genetics (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Key Research and Development Program of China Project (2016YFC1000200)
- National Natural Science Foundation of China (NO.81974230)
- Hunan Provincial Grant for Innovative Province Construction (2019SK4012)
- Topics
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Prenatal Screening and Diagnostics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Assisted Reproductive Technology and Twin Pregnancy
- Keywords
- Turner syndrome, mosaic Turner syndrome, preimplantation genetic testing, cumulative live birth rate, clinical pregnancy rate, miscarriage rate, controlled ovarian stimulation, reproductive outcomes
- MeSH terms
- Abortion, Spontaneous, Adult, Aneuploidy, Birth Rate, Blastocyst, Embryo Transfer, Female, Fertilization in Vitro, Genetic Testing, Humans, Mosaicism, Pregnancy, Turner Syndrome, Pregnancy Rate, Preimplantation Diagnosis, Live Birth
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