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In vitro fertilization and preimplantation genetic diagnosis outcomes in mosaic Turner's Syndrome: A retrospective cohort study from a single referral center experience - 13/05/22

Doi : 10.1016/j.jogoh.2022.102405 
Ferruh Acet 1, , Gulnaz Sahin 2, Abdullah Ali Osman Uçar 3, Volkan Emirdar 4, Emin Karaca 5, Burak Durmaz 6, Ege Nazan Tavmergen Goker 7, Erol Tavmergen 8
1 Department of IVF Research and Training Center, Ege University Faculty of Medicine, Izmir, Turkey 
2 Department of IVF Research and Training Center, Ege University Faculty of Medicine, Izmir, Turkey 
3 Department of IVF Research and Training Center, Ege University Faculty of Medicine, Izmir, Turkey 
4 Department of Obstetrics and Gynecology, Izmir Economy University, Medical Park Hospital Izmir, Turkey 
5 Ege University, Faculty of Medicine, Department of Genetic, Ege University Faculty of Medicine, Izmir, Turkey 
6 Department of Genetic Ege University Faculty of Medicine, Izmir, Turkey 
7 Department of IVF Research and Training Center and Department of Obstetrics and Gynecology, Ege University Faculty of Medicine, Izmir, Turkey. 
8 Department of IVF Research and Training Center and Department of Obstetrics and Gynecology, Ege University Faculty of Medicine, Izmir, Turkey 

Corresponding author.
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Edited by Pr. Herve Fernandez

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. 2,00±0,55, p<0,001). 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.

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Keywords : IVF, PGD, Turner's syndrome


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