Abstract
BackgroundTurner’s syndrome (TS) is depicted as a total or partial absence of one X chromosome that results in ovarian dysgenesis. Chances of spontaneous pregnancy in TS are rare and the outcome of the pregnancies is known to be poor with an increased risk of miscarriage and stillbirths. Our aim is to evaluate reproductive and obstetric outcomes of natural conception and in-vitro fertilization (IVF) cycles in mosaic TS patients.MethodsA total of 22 mosaic TS cases (seventeen 45,X/46,XX and five 45,X/46,XX/47,XXX karyotypes) were evaluated.ResultsLive birth and abortion rates were found as 32.7 % and 67.3 %, respectively in 52 pregnancies. Implantation, clinical pregnancy and take home baby rates were detected as 3.7 %, 8.6 % and 5.7 %, respectively per IVF cycle as a result of 35 cycles. Fecundability analysis revealed that 5 % of the cases experienced first pregnancy within 6 months and 8 % within the first 2 years. Mosaicism ratio did not have an effect on the time to the first pregnancy (p = .149).ConclusionOnly a small proportion of the mosaic TS patients conceive in the first 2 years of the marriage. Age of menarche and age of marriage appear not to have any impact on the chance of conceiving. Mosaic TS cases should counseled about the low odds of pregnancy and high miscarriage rates.
Highlights
Turner’s syndrome (TS) is depicted as a total or partial absence of one X chromosome that results in ovarian dysgenesis
A total of 22 mosaic TS patients were extracted from 706 patients who underwent genetic karyotyping for varying indications including, recurrent implantation failure (5.1 %), recurrent pregnancy loss (2.2 %), premature ovarian failure (POF) (2.2 %) and history of an offspring with any chromosomal or structural abnormality (4 %)
We found the ratio of Mullerian abnormality in all mosaic TS cases as 13.6 % and all pregnancies had terminated with abortions before the surgical corrections of the malformations
Summary
Turner’s syndrome (TS) is depicted as a total or partial absence of one X chromosome that results in ovarian dysgenesis. Our aim is to evaluate reproductive and obstetric outcomes of natural conception and in-vitro fertilization (IVF) cycles in mosaic TS patients. Turner’s syndrome (TS) is depicted as a total or partial absence of one X chromosome, and occurs in approximately 1/2200 of live born females [1]. 43-49 % of the patients are cases with classical TS who are monosomic for X chromosome (45,X). Patients with classical TS demonstrate characteristic clinical features such as short stature, web neck, The purpose of this study was to evaluate reproductive and obstetric outcomes of natural conception and IVF procedures in mosaic TS cases. Y chromosome fragments are detected in 10-11 % of the cases [2,3,4,5,6].
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