In vitro fertilization and preimplantation genetic diagnosis outcomes in mosaic Turner's syndrome: A retrospective cohort study from a single referral center experience

Abstract

Background: : Patients with mosaic Turner syndrome who have normal phenotype and pubertal development may be diagnosed based on karyotype examination which is performed due to recurrent abortion or recurrent implantation failure; but according to the literature review, reproductive and obstetric consequences of these cases are based on case reports. There are contradictory publications on this subject recommending pre-implantation genetic testing (PGT) may be a solution to reduce the high risk for the fetus and perform normal embryo transfer. Aim: : In this study, our aim was to evaluate the results of in vitro fertilization and preimplantation genetic diagnosis in patients with low-grade and high-grade mosaic Turner syndrome. Methods: : We collected data of patients between 2012 and 2018 from a single center retrospectively. The study analyzed 36 mosaic Turner syndrome patients, of whom, 10 patients were evaluated as high, 26 patients were evaluated as low-grade mosaic pattern for Turner syndrome. Results: : Mean age (35,46 +/- 0,87 vs. 36,2 +/- 1,85) body mass index (25,26 +/- 0,74 vs. 30,8 +/- 0,63) baseline follicle stimulating hormone (5,73 +/- 0,74 vs. 6,70 +/- 1,17) basal luteinizing hormone (4,78 +/- 0,43 vs. 4,92 +/- 0,99) were similar between two groups. In the high-grade mosaic Turner Syndrome patients, duration of stimulation (7,60 +/- 0,16 vs. 8,0 +/- 0,28, p < 0,001), total gonadotrophin dose (1540,0 +/- 165,12 vs. 2046,15 +/- 111,47, p < 0,001) and the number of normal karyotype embryos was statistically significantly higher (1,58 +/- 0,17 vs. 2,0 0 +/- 0,55, p < 0,0 01). The Pregnancy rates in the low-grade and high-grade mosaic Turner syndrome patients' cycles were 30,8% versus 30%, ( p = 0.76) respectively. IVF results were also evaluated by the presence of triploidy were accompanying Turner syndrome or not. In the presence of one or 2 X chromosomes, none of the included in the study could achieve live birth. The most common abnormality in the embryos was monosomy and trisomy of the chromosome13. In 30% of the cases, there were 2 or 3 abnormalities present together. In embryos with 2 abnormal chromosomes, the most common 2 abnormalities were monosomy 13 and trisomy 21, while trisomy 13, trisomy X and monosomy 18 were found in 3 or more abnormalities, respectively. Conclusion: : In vitro fertilization and Preimplantation genetic diagnose should be considered in the infertility treatment of the patient with mosaic Turner Syndrome. (c) 2022 Elsevier Masson SAS. All rights reserved.