Google Scholar. Since mosaic patients are diagnosed following karyotype analysis due to recurrent pregnancy loss, repeated in vitro fertilization (IVF) failure and history of an abnormal offspring, our knowledge concerning reproductive and obstetric outcomes relies on case reports and case series [4, 10–12] and more comprehensive studies investigating the fertility outcomes of these patients. For the vast majority of such women, being an egg recipient is the only way to become pregnant (Appendix VII lists the accredited centres). Women with Turner syndrome having a normal cardiac MRIandevaluation whodecide toattempt pregnancyafter thorough counseling are still at much higher risk for associated morbidity and mortality and require careful ob-servation and frequent formal reevaluation throughout gestation and postpartum. [Turner's syndrome in mother and daughter]. Lippe B. Turner syndrome. Miscarriages that are frequently seen in TS cases are explained by chromosomal abnormalities in fetus, autoimmune disorders, ovarian and uterine factors [10, 11, 38, 40]. Hum Reprod. Pregnancy: A woman with TS has a significantly higher risk of developing complications during pregnancy, including gestational diabetes, high blood pressure, and aortic dissection. J Clin Endocrinol Metab. Possibility of a total of 2-year fecundability was calculated at 6-month intervals by time-table analysis. When evaluating pregnancy outcomes in patients with Turner syndrome, dis- tinction is not made between a ‘‘pure’’ 45,X karyotype and a mosaic pattern, and therefore all Turner syndrome patients should be considered to be at risk (9, 11, 12). Birkebaek NH, Crüger D, Hansen J, Nielsen J, Bruun-Petersen G. Fertility and pregnancy outcome in Danish women with Turner syndrome. Endocrinol Metab Clin North Am. 2002;39:217–20. Patients with Turner syndrome are usually phenotypically female, and male cases are rarely reported. 3 In approximately 50% of the cases, the affected individuals have a 45,X karyotype, whereas the others display various abnormalities of one of their sex chromosomes or may be mosaic. It can be administered as contraceptive pills, which also serve as HRT. I immediately went to a high-risk pregnancy clinic, as any pregnancy with Turner Syndrome is automatically high-risk. Therefore, hormone replacement therapy (HRT) is necessary to achieve the development of normal female sexual characteristics and to prevent cardiovascular complications and osteoporosis. | The ones who do fall pregnant naturally usually have Mosaic turner syndrome so not all the cells have the missing X chromosome. Reproductive and obstetric outcomes in mosaic Turner’s Syndrome: a cross-sectional study and review of the literature. October 22, 2018 at 7:26 pm ; 10 replies; TODO: Email modal placeholder. Other sex chromosome abnormalities are also possible in individuals with X chromosome mosaicism. Turner syndrome, characterized by the presence of a monosomy X cell line, is a common chromosomal disorder. Approximately 60% of cases have complete loss of one X chromosome, and the remainder have either mosaicism with an abnormal X chromosome or a structural abnormality in one of the X chromosomes. Perinatal outcomes of the 17 pregnancies that resulted in live birth are presented in Table 4. Turner's syndrome can be transmitted from mothers to daughters (Varela et al., 1991; Verschragen-Spae et al., 1992; Blumenthal and Allanson, 1997; Tarani et al., 1998). They don’t happen because of anything the parents did or didn’t do. Pregnancy rates of these cases were found to be comparable with other women in donation programs or probably lower due to diminished endometrial receptivity [34, 35]. In contrast, Sonntag et al. CAS Ovarian failure is a typical feature in Turner's syndrome. The care of the staff was wonderful. In our study group, uterus hypoplasia was present in one case and surgery-corrected uterine abnormality was present in three cases. One patient was determined to have 45,X/46,XX inv(9)p11q13 karyotype. Turner’s syndrome and pregnancy: has the 45, X/47, XXX mosaicism a different prognosis? Fertil Steril. Am J Hum Genet. Ford JH, Russell JA. These results suggest that the rate of uterine abnormalities in TS cases is high and that they may benefit from the surgery. It has been reported that uterine size were often normal in cases with mosaic karyotype and that they experience spontaneous puberty [45, 46]. who affirmed a pregnancy induced hypertension and gestational diabetes rate of 5 % in TS cases, similar to the rate in general population [32, 47, 48]. In the study by Birkebaek et al., evaluating 410 Danish women with TS, 27 out of 31 women who could spontaneously conceive, at least once, had a TS diagnosis . Epub 2019 Apr 24. 2004 Jun 12;148(24):1208-10. Guttenbach M, Koschorz B, Bernthaler U, Grimm T, Schmid M. Sex chromosome loss and aging: in situ hybridization studies on human interphase nuclei. No pregnancy was detected after 60 months of marriage. Out of 22 patients, five despite IVF treatment and one who never sought treatment, could not ever conceive. Pregnancy in women with TS is associated with significant risks, including hypertensive disorders, preeclampsia, premature birth, low birth weight, and need for cesarean delivery. Similarly, Bryman et al. Patients with Turner syndrome are usually phenotypically female, and male cases are rarely reported. Neither spontaneous nor IVF pregnancy was detected beyond 60th month of marriage. Hagman A, Loft A, Wennerholm UB, Pinborg A, Bergh C, Aittomäki K, et al. A hundred metaphases were counted for each patient and International System for Human Cytogenetic Nomenclature (ISCN, 2009) guidelines were used when performing karyotype analysis . In addition, one patient underwent hysteroscopic septum resection for uterine septum, another case underwent Strasmann metroplasty for bicornuat uterus and one underwent hysteroscopy and cavity expansion with fundal and lateral incisions for T-shaped uterus. Nowinski GP, Van Dyke DL, Tilley BC, Jacobsen G, Babu WR, Worsham MJ, et al. The postnatal investigation was of a patient who underwent karyotype analysis at the age of 15 due to mental retardation and a deletion was detected between the regions of 18q21.3 and q23. [Procreation in Turner's syndrome: which recommendations before, during and after pregnancy?]. showed a correlation between mosaicism and a low implantation rate . The median age of marriage was 25 (15–40) and median age of first pregnancy in spontaneously pregnant women was 23 years (18–32) and these results are in agreement with the previous studies reporting median age of first pregnancy in TS syndrome cases as 23.5-27.2 years [4, 10]. Turner’s syndrome and fertility: current status and possible putative prospects. Turner syndrome in a mother and daughter: r(X) and fertility. 91 Case reports, 6 but no controlled studies to date, suggest that pregnancy may increase the AoD risk in TS. Of 22 mosaic TS patients’ karyotypes, 17 were 45,X/46,XX and five were 45,X/46,XX/47,XXX. Clinical pregnancy rate and implantation rate were reported to be 46 % and 30 %, respectively, by fresh embryo transfer in oocyte donation cycles, and 28 % and 19 %, respectively, in frozen embryo transfers in TS cases . Mosaic TS patients are more likely to experience normal pubertal development, regular menstrual cycles and to conceive spontaneously compared to those with 45,X monosomy . 90 Pregnancy in Marfan syndrome increases the risk of AoD or rupture. Schleedoorn M, van der Velden J, Braat D, Beerendonk I, van Golde R, Peek R, Fleischer K. BMJ Open. Women with mosaic Turner syndrome are considered to be a high-risk pregnancy. Doğer, E., Çakıroğlu, Y., Ceylan, Y. et al. In addition, the chance of spontaneous conceiving in women with TS was reported as 2-10 %, most of which are the cases of mosaic pattern and those with 45,X monosomy are candidates for oocyte donation [16, 21, 22]. Mosaic Turner syndrome, mosaicism, or Turner mosaicism is where the abnormalities occur only in the X chromosome of some of the body’s cells. Uterine hypoplasia was observed in one case. About 5-10% of girls with Turner's Syndrome have spontaneous pubertal development and 5% having menstrual periods. Epub 2008 Sep 23. Part of USA.gov. Here, we report a fetus with a mosaic karyotype: mos 45,X/46,X,del(Y)(q11.21). Several previously published reports indicated a correlation between mosaicism ratio and phenotypic abnormalities and reproductive capacity of the patients; on the contrary, some other publications did not find a consistent relationship [2, 30]. 1991;87:81–3. Those who can are still likely to experience failure of the ovaries and subsequent infertility very early in adulthood. spontaneous pregnancy with mosaic (more frequent) and pure karyotype. suggested that mosaicism has been underestimated as a cause of repeated failure in assisted reproduction . During pregnancy, … This is her perspective on the process. 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. Bc, Jacobsen G, Babu WR, Worsham MJ, et al girls... Pasquino AM, et al pregnancies are rare ( 5 % ) who be... 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