A retrospective series of homologous intracytoplasmic sperm injection cycle results of 99 women with mosaic Turner syndrome

Abstract

Background: Although pregnancy is reported in both classical and mosaic forms of Turner syndrome (TS), both spontaneous and invitro-fertilisation (IVF) success rates were found higher in mosaic cases. In this study we analysed homologous intracytoplasmic sperm injection cycle results of infertile patients diagnosed with mosaic TS. Methods: Ninety nine female patients who had infertility complaints for 2 years or more and were diagnosed with mosaic TS were included in the study. They were treated according to a standard antagonist protocol. Embryo transfer was performed after pre-implantation genetic diagnosis (PGD) in 53 cases while embryo transfer was performed in remaining 46 cases without PGD. Results: While 45,X/46,XX karyotype was found in 55 of 99 cases, 45,X/46,XX/47,XXX karyotype was found in 32 cases. The remaining participants consisted of rare karyotype forms. The total number of patients conceived after the antagonist protocol was 31 (31.3%). While 18 of these cases resulted in term delivery (58%), the remaining 13 cases resulted in miscarriage (41.9%). Pregnancy could not be obtained in only 2 cases whose karyotype were 45,X/47,XXX and 45,X/46,XX/46,XY. Karyotype analysis was performed in only 2 of 18 newborn babies due to suspicious physical findings, but the results were reported as normal. Discussion: On the basis of our observations in this largest mosaic TS series, homologous IVF should be considered in infertile patients with Turner syndrome with high-grade mosaicism. PGD should also be recommended to TS patients on IVF treatment.

Navigating fertility dilemmas across the lifespan in girls with Turner syndrome—a scoping review

“…In addition to ICSI or IVF, four out of 10 studies incorporated preimplantation genetic testing (PGT). Numerous investigations have used PGT to enhance reproductive outcomes, by selecting euploid embryos for transfer, with the aim of optimizing live birth rates, while minimizing the incidence of miscarriages and congenital abnormalities ( Giles et al , 2020 ; Gungor et al , 2021 ; Liao et al , 2021 ; Acet et al , 2022 ). PGT was performed at different phases of embryogenesis: biopsy of polar body ( Manno et al , 2009 ), Day 3 ( Giles et al , 2020 ) or Day 5 ( Liao et al , 2021 ).…”

“…However, pregnancy rates were not different. Furthermore, the study by Gungor et al (2021) presented a cohort of 53 women with TS and ICSI-PGT versus 46 women with TS and ICSI-non-PGT and found significantly more pregnancies (36% vs 26%) and fewer miscarriages (11% vs 15%) per women after ICSI-PGT, respectively. Similar results after ICSI-PGT were found by Giles et al (2020) and Liao et al (2021) , who reported clinical pregnancy rates of 42–72% and miscarriage rates of 14–31%.…”

“…The study of Liao et al (2021) concluded that when an euploid embryo, following PGT, was transferred to 72 women with TS, the pregnancy and miscarriage rates were comparable to those without TS. Ten newborns, of which a minimum of seven were born after ICSI-PGT, underwent screening for congenital abnormalities, and both studies reported healthy newborns ( Giles et al , 2020 ; Gungor et al , 2021 ).…”

“…Second, we recommend opting for single embryo transfer to prevent complications associated with multiple pregnancy ( Söderström-Anttila et al , 2019 ; Abir et al , 2020 ; R odriguez-Wallberg et al , 2020 ). Third, the added value of PGT in ART may be limited in case of poor ovarian response ( Gungor et al , 2021 ; Liao et al , 2021 ). High numbers of oocytes are needed to select euploid embryos for transfer.…”