Preimplantation genetic testing for aneuploidy in patients with partial X monosomy using their own oocytes: is this a suitable indication?

Preimplantation genetic testing for aneuploidy is a valid therapeutic option in patients with mosaic Turner Syndrome using their own oocytes and oocyte donation should not necessarily be recommended directly as the treatment of choice.

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VOLUME 114, ISSUE 2, P346-353


Juan Giles, M.D., Marcos Meseguer, Ph.D., Amparo Mercader, Ph.D., Carmen Rubio, Ph.D., Lucia Alegre, Ph.D., Carmen Vidal, M.D., Martina Trabalon, M.D., Ernesto Bosch, M.D.



To describe the outcome of preimplantation genetic testing (PGT-A) using their own oocytes in patients with mosaic Turner Syndrome (MTS). The impact of the assisted reproduction technique (ART) performed (PGT-A or oocyte donation) and the type of absence of the X chromosome (total or partial) were considered.


Retrospective observational multicenter study.


University-affiliated private in vitro fertilization center.


Fifty-six patients with MTS with whom 65 ovarian stimulation cycles for PGT-A (fluorescence in situ hybridization/arrays-next generation sequencing) were performed. The study included 90 women with MTS and 20 women with pure Turner Syndrome (PTS) who underwent 140 and 25 oocyte donation (OD) cycles, respectively.


In vitro fertilization for PGT-A (fluorescence in situ hybridization/arrays-next generation sequencing) or OD.

Main Outcome Measure (s)

Reproductive outcome and feto-maternal outcomes.


The live birth rate (LBR) per embryo transfer in patients with MTS tended to be higher in OD 37.7% (95% confidence interval [CI]: 29.3–46.1) than that observed for PGT-A 22.5% (95% CI 7.8–38.2), and the cumulative LBR (CLBR), with 77.6% vs. 43.3%, respectively. Likewise, the LBR per patient was significant when comparing PGT-A vs. OD, with 12.5% (95 CI 3.9–21.1) vs. 51.1% (40.7–61.4), respectively. While focusing on the X chromosome, partial MTS (PTS), we found significant differences in the CLBR per embryo transfer, with 77.6% vs. 29.2%, and also in the LBR per patient: 51.1% (40.7–61.4) in MTS vs. 15% (95 CI 0.0–30.1) in PTS.


Oocyte donation is the best reproductive option in females with Turner Syndrome with or without mosaicisms. Nevertheless, PGT-A is a valid therapeutic option in patients with MTS using their own oocytes, and OD should not necessarily be directly recommended.

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Fertility and Sterility

Editorial Office, American Society for Reproductive Medicine

Fertility and Sterility® is an international journal for obstetricians, gynecologists, reproductive endocrinologists, urologists, basic scientists and others who treat and investigate problems of infertility and human reproductive disorders.