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. 2020 May-Jun;34(3):1433-1437.
doi: 10.21873/invivo.11925.

Low-level X Chromosome Mosaicism: A Common Finding in Women Undergoing IVF

Sophia Zachaki #  1   2 , Elisavet Kouvidi #  3 , Amelia Pantou  3 , Haroula Tsarouha  3 , Anastasios Mitrakos  3 , Georgia Tounta  3 , Ioanna Charalampous  3 , Kalliopi N Manola  2 , Emmanuel Kanavakis  3 , Ariadni Mavrou  3
Affiliations

Low-level X Chromosome Mosaicism: A Common Finding in Women Undergoing IVF

Sophia Zachaki et al. In Vivo. 2020 May-Jun.

Abstract

Background/aim: To determine the incidence of X chromosome mosaicism in women undergoing in vitro fertilization (IVF) treatment and present preimplantation genetic testing for aneuploidy (PGT-A) outcome of this group.

Patients and methods: A total of 1,058 women undergoing IVF and 154 women with no fertility problems were enrolled in the study. Karyotyping from peripheral blood lymphocytes was performed by conventional cytogenetics. Twenty-nine women with X mosaicism underwent PGT-A by array-comparative genomic hybridization from embryos at the blastocyst stage.

Results and conclusion: Out of 1,058 women undergoing IVF, 166 (15.7%) had an abnormal karyotype. The most common finding (14.6%) was X chromosome mosaicism. Its frequency was higher in women >35 years old and reached 46.1% in those >45 years of age. PGT-A results of 130 blastocysts tested showed that 29/117 (24.8%) were euploid; 17/29 (60%) were transferred and 10/17 (70%) were successfully implanted, indicating that PGT-A may be an option for women with low-level X chromosome mosaicism undergoing IVF in order to improve the likelihood of a successful pregnancy outcome.

Keywords: Chromosomal abnormalities; PGT-A; X mosaicism; aneuploidy; preimplantation genetic testing for aneuploidy.

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Conflict of interest statement

The Authors have no conflicts of interest to declare.

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