1. Low-level X Chromosome Mosaicism: A Common Finding in Women Undergoing IVF
- Author
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Emmanuel Kanavakis, Ariadni Mavrou, Amelia Pantou, Haroula Tsarouha, Anastasios Mitrakos, Kalliopi N. Manola, Ioanna Charalampous, Sophia Zachaki, Georgia Tounta, and Elisavet Kouvidi
- Subjects
Adult ,Cancer Research ,medicine.medical_specialty ,medicine.medical_treatment ,Aneuploidy ,Fertilization in Vitro ,General Biochemistry, Genetics and Molecular Biology ,Young Adult ,03 medical and health sciences ,0302 clinical medicine ,medicine ,Humans ,Genetic Testing ,Blastocyst ,Stage (cooking) ,Preimplantation Diagnosis ,X chromosome ,Genetic testing ,Chromosome Aberrations ,Pharmacology ,Gynecology ,Chromosomes, Human, X ,In vitro fertilisation ,medicine.diagnostic_test ,Mosaicism ,business.industry ,Incidence (epidemiology) ,Karyotype ,Middle Aged ,medicine.disease ,Chromosome Banding ,medicine.anatomical_structure ,Case-Control Studies ,030220 oncology & carcinogenesis ,embryonic structures ,Female ,business ,Research Article - 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.
- Published
- 2020