However, after the surgical corrections, four pregnancies were achieved and three terminated with delivery. Approach to the patient with Turner syndrome. Turner syndrome (TS), characterized by a total or partial absence of one X chromosome, affects one in 2,500–5,000 live born girls. Here, we report a fetus with a mosaic karyotype: mos 45,X/46,X,del(Y)(q11.21). Pregnancy rate and outcome in Swedish women with Turner syndrome. Women with Turner syndrome currently have limited reproductive options. 19 is very late to start growth hormones so they possibly would not have worked for you anyway. Spontaneous puberty occurs in 5-10% of women with Turner's syndrome, and 2-5% of them have become pregnant spontaneously. Fertility and Pregnancy in Turner Syndrome Turner syndrome (TS) occurs in one in 2500 live female births and is one of the most common chromosomal abnormalities in women. California Privacy Statement, 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). Hereditas. Terms and Conditions, Oxford: Oxford University Press; 2010. Individuals with a mosaic 45,X/46,XY genotype have a variety of phenotypic presentations ranging from male to female which are not correlated with the perce… When compared to the classical form, mosaic karyotype TS cases are more likely to present spontaneous puberty, normal levels of serum sex steroids and gonadotropins and follicles in ovarian biopsies [20]. Similarly in the study by Bryman et al. ÖÖ participated in the design and drafted the manuscript. Google Scholar. Limitations of our study include its retrospective design, presence of some data that are based on patients’ memory, absence of a control group and inability to perform a karyotype analysis in all newborns. This syndrome is an instance of Hovatta O. Therefore, hormone replacement therapy (HRT) is necessary to achieve the development of normal female sexual characteristics and to prevent cardiovascular complications and osteoporosis. Gekas J, Thepot F, Turleau C, Siffroi JP, Dadoune JP, Briault S, et al. Pregnancy in patients with Turner’s syndrome: six new cases and review of literature. 2008 Sep;36(9):891-7. doi: 10.1016/j.gyobfe.2008.06.021. Obstetric and neonatal outcome after oocyte donation in 106 women with Turner syndrome: a Nordic cohort study. Classic turner syndrome all the cells have the missing X. The children born following oocyte donation have no additional risks. 1999;72:937–9. Chromosome abnormalities in 447 couples undergoing intracytoplasmic sperm injection–prevalence, types, sex distribution and reproductive relevance. Mechanism of recurrent spontaneous abortions in women with mosaicism of X-chromosome aneuploidies. Bryman I, Sylvén L, Berntorp K, Innala E, Bergström I, Hanson C, et al. Hum Reprod. Review. Miscarriages included 29 spontaneous abortions, four biochemical abortions and two induced abortions (due to anencephaly and trisomy 21). A unique case of trichorionic quadruplet pregnancy after oocyte donation in a patient with Turner's syndrome. Hum Reprod. Hook EB, Warburton D. Turner syndrome revisited: review of new data supports the hypothesis that all viable 45, X cases are cryptic mosaics with a rescue cell line, implying an origin by mitotic loss. Epub 2008 Aug 15. 1963;197:1080–1. Genetic analysis of mosaicism in 53 women with Turner syndrome. 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 [2]. 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. The rate of spontaneous pregnancy among women with Turner syndrome (TS) is about 2–5% (), with a higher rate of spontaneous abortion than that of the general population ().The advancement of reproductive medicine in recent years has resulted in an increased number of successful pregnancies and deliveries among women with TS. 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]. Introduction. Hum Reprod. My Labor And Delivery Story + Meet My Baby | High Risk Pregnancy - … mosaic Turner’s Syndrome: a cross-sectional study and review of the literature Emek Doğer1*,Yiğit Çakıroğlu1, Yasin Ceylan1, Esen Ulak2, Özkan Özdamar3 and Eray Çalışkan1 Abstract Background: Turner’s syndrome (TS) is depicted as a total or partial absence of one X chromosome that results in ovarian dysgenesis. An International System for Human Cytogenetic Nomenclature (ISCN-2009) Basel. In our study population, there was one pregnancy with a history of SGA fetus delivery (5.9 %) and none of the cases had preterm delivery. Female child born with Mosaic Turner Syndrome is rare and that about 1 in 2,500 girl child birth. Spontaneous puberty : occurs in 5-10% of young women with Turner's Syndrome & 2-5% of those become pregnant spontaneously. In the context of lack of a control group, we should emphasize that it was not possible to constitute a control group since the present was not a population-based study. 1998;70:933–7. Our aim is to evaluate reproductive and obstetric outcomes of natural conception and in-vitro fertilization (IVF) cycles in mosaic TS patients. 2009;70:200–2. Although the main causes of miscarriage in Turner's syndrome have been thought to be of genetic origin, there may also be other causes. Mosaicism ratio does not affect the time to the first pregnancy. Gestational diabetes mellitus was present in two (11.8 %) of 17 pregnancies that achieved live birth. Ovarian function and Turner's syndrome]. 1993;329:1213–8. J Assist Reprod Genet2004; 21 : 229Ð230. Kuo PL, Guo HR. M Mosaicism of both the X and the Y chromosome is a common finding in Turner syndrome. 2019;28(2):37-41. doi: 10.1297/cpe.28.37. Many of the women with TS are diagnosed in childhood due to their short stature. Treatment for mosaic Turner syndrome is primarily centered on hormone therapy, including the regular administration of somatropin, or human growth hormone, and estrogen. Get the latest public health information from CDC: https://www.coronavirus.gov, Get the latest research information from NIH: https://www.nih.gov/coronavirus, Find NCBI SARS-CoV-2 literature, sequence, and clinical content: https://www.ncbi.nlm.nih.gov/sars-cov-2/. Chromosomal mosaicism mitigates stigmata and cardiovascular risk factors in Turner syndrome. Fertil Steril.  |  Reindollar RH, Novak M, Tho SP, McDonough PG. The mosaic Turner syndrome is one of the more moderate types of the disorder. The pregnancy and implantation rates in our survey were also higher than those in Turner's syndrome subjects treated by Khastgir 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 [13]. I immediately went to a high-risk pregnancy clinic, as any pregnancy with Turner Syndrome is automatically high-risk. Turner’s syndrome and fertility: current status and possible putative prospects. Spontaneous puberty occurs in 5-10% of women with Turner's syndrome, and 2-5% of them become pregnant spontaneously. Our aim is to evaluate reproductive and obstetric outcomes of natural conception and in-vitro fertilization (IVF) cycles in mosaic TS patients. What are the ivf and pregnancy information with a butterfly that has Mosaic Turner Syndrome! Diagnosis of Turner's syndrome may be … 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]. Hereditary in nature was reported in mosaic TS cases and especially cases with ring chromosome [10, 41]. 1986;155:531–43. 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. have reported bicornuat uterus in four (13.8 %) of 29 TS cases, 10 of whom had mosaic karyotypes and miscarriage rate associated with uterus hypoplasia, bicornuat uterus and low fertilization rate was 50 % [34]. A non-mosaic 45,X karyotype in a mother with TurnerÕs syndrome Lymphedema, a condition that causes swelling in the body’s tissues, can affect unborn babies with Turner syndrome… Onalan G, Yilmaz Z, Durak T, Sahin FI, Zeyneloglu HB. Fertility counselling has become important in the treatment of girls with Turner's syndrome. 90.4 % of the pregnancies (n = 47) (88.2 % of live born babies (n = 15)) have occurred in spontaneous cycles. 2012 May;9 Suppl 2:713-7. Brooke TV 3,566 views. The majority of female s who have Turner Syndrome are unable to have children, and even if they can, pregnancy often presents a major risk to the life of the mother and the child. Turner syndrome is a chromosomal abnormality, due to a total or partial loss of 1 of the X chromosomes and is mostly characterized clinically by short stature and primary ovarian insufficiency. Epub 2019 Apr 24. Doerr HG, Bettendorf M, Hauffa BP, Mehls O, Partsch CJ, Said E, et al. Nature. Simpson et al. Majority of TS cases who conceive spontaneously are known to have mosaic cell lines. X chromosome mosaicism ratio in female partner of ICSI candidate couples was reported to be 2.77-4.12 % whereas 45X/46XX mosaicism in couples with IVF failures due to severe male infertility and fertilization failures were reported to be 3.5-9.6 % [25–28]. have reported that they detected uterine abnormality in 16.7 % of mosaic X-chromosome aneuploidies with a history of recurrent spontaneous abortions and 5.2 % in the control group [38]. Kaneko N, Kawagoe S, Hiroi M. Turner’s syndrome–review of the literature with reference to a successful pregnancy outcome. 1996;335:1749–54. Pregnancy with Mosaic turners sydrome - Turner syndrome. Mosaic cell line ratio was below 10 % in 17 and above 10 % in five cases. Neither spontaneous nor IVF pregnancy was detected beyond 60th month of marriage. Google Scholar. For the vast majority of such women, being an egg recipient is the only way to become pregnant (Appendix VII lists the accredited centres). 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]. Report of the National High Blood Pressure Education Program Working Group on High Blood Pressure in Pregnancy. There are many other symptoms or characteristics that can affect girls and women with Turner syndrome. The purpose of this study was to evaluate reproductive and obstetric outcomes of natural conception and IVF procedures in mosaic TS cases. Khastgir G, Abdalla H, Thomas A, Korea L, Latarche L, Studd J. Oocyte donation in Turner’s syndrome: an analysis of the factors affecting the outcome. In: Simpson JL, Golbus MS, editors. 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. Does 45, X/46, XX mosaicism with 6–28 % of aneuploidy affect the outcomes of IVF or ICSI? 91 Case reports, 6 but no controlled studies to date, suggest that pregnancy may increase the AoD risk in TS. Hum Reprod. 2020 May 1;35(5):1061-1072. doi: 10.1093/humrep/deaa007. This hormone, along with progesterone, is given to start breast development and induce monthly periods. Excellent results have been obtained with 46% of embryo transfers resulting in pregnancy. SPSS version 15.0 (Statistical Package for Social Science, Spss Inc. Chicago, IL, USA) was used for statistical analysis. Moreover, in the study by Hanson et al. In a current pregnancy, an ultrasound may reveal markers for the condition, but diagnosis can only be confirmed with genetic testing such as amniocentesis or chorionic villus sampling (CVS). For affected women who conceive using egg donation, whether prenatal testing is recommended depends on the … Scholtes et al. spontaneous pregnancy with mosaic (more frequent) and pure karyotype. Turner syndrome in a mother and daughter: r(X) and fertility. Turner syndrome may cause up to 10% of all first trimester miscarriages. Successful pregnancy with preimplantation genetic diagnosis in a woman with mosaic Turner syndrome. Google Scholar. Informed consent from all individual participants included was obtained. Pregnancies in women with TS, conceived with either autologous or donated oocytes, are considered high risk because of the associated miscarriages and life-threatening card … Fortunately, there are fertility treatments available to help increase your chances of having a baby. Article  Turner syndrome, characterized by the presence of a monosomy X cell line, is a common chromosomal disorder. (1997). We describe a case of Turner syndrome with a 46,XY genotype by conventional 5-cell karyotype who was subsequently found to have a mosaic genotype of 18% 45,X and 82% 46,XY by 50-cell FISH analysis. EU carried out the genetic analysis. However, the frequency of the onset of disease during pregnancy is quite frequent, but mostly embryo unable to survive till full term due to miscarriages and stillbirths. RPC Turner syndrome and pregnancy – April 2009 - Page 3 Work-up before pregnancy A work-up should be done in every patient who wishes to become pregnant, whatever her karyotype (mosaic or 45 X), and whether pregnancy is sought naturally (if ovarian function is conserved, as it generally is in patients with a mosaic Chromosomal factors of infertility in candidate couples for ICSI: an equal risk of constitutional aberrations in women and men. Ovarian function and in vitro fertilization (IVF) in Turner syndrome. Moreover, Kuo et al. Infertility can be a distressing part of Turner syndrome. 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. The effect of menarche age, marriage age and mosaicism ratio on the time until spontaneous or IVF pregnancy was assessed by Cox-regression analysis. This also occurs due to a random event, during early fetal development rather than before conception. Maternal XX/X chromosome mosaicism in donor oocyte in vitro fertilization (IVF). However, there is a small percentage of women (about 5%) who will be able to achieve natural gestations. Sometimes it's difficult to distinguish the signs and symptoms of Turner syndrome from other disorders. Reproductive Biology and Endocrinology Menstruation was regular in 18 cases at the time of study enrollment whereas it was irregular in the two and the remaining two, who were diagnosed as POF at the ages of 28 and 38, were on hormone replacement therapy. We describe a successful pregnancy outcome in a patient with non-mosaic Turner syndrome (45, X) via in vitro fertilization. And there have been some reports of false positives for the condition, even with amniocentesis.2 In newborn babies, the diagnosis can be confirmed with a blood test. COX regression analysis revealed that marriage age, menarche age and mosaicism ratio did not have an effect on the time until first pregnancy (p = .685; p = .350 and p = .149, respectively). Medical history regarding prior hormone therapy, prior assisted reproductive techniques attempts in infertility cases, obstetric outcomes in patients who had conceived through spontaneous or IVF cycles and perinatal outcomes were obtained by face-to-face interview or assessment of hospital medical records. It's vital her womb is healthy and has developed fully … Mosaic TS cases should counseled about the low odds of pregnancy and high miscarriage rates. Gawlik AM, Hankus M, Szeliga K, Antosz A, Gawlik T, Soltysik K, Drosdzol-Cop A, Wilk K, Kudela G, Koszutski T, Malecka-Tendera E. Front Endocrinol (Lausanne). Endocrinol Metab Clin North Am. - Duration: 6:20. Bouchlariotou S, Tsikouras P, Dimitraki M, Athanasiadis A, Papoulidis I, Maroulis G, et al. Manage cookies/Do not sell my data we use in the preference centre. Cerebral paresis, neuropsychological disorder, aortic coarctation, cleft lip and palate and congenital tumor were detected in 5 (7 %) of 68 children born to women with TS [32]. A minority (10%) of girls with Turner syndrome experience some physical changes naturally during puberty, but only a very small number (1%) become pregnant naturally. doi: 10.1136/bmjopen-2019-030855. Majority of germ cells, which trigger spontaneous puberty in 10-30 % and provide pubertal development, start to diminish in the third month of intrauterine life, resulting in only 5-10 % of affected patients could menstruate regularly [16–19]. Preimplantation genetic diagnosis (PGD) may improve the chance of conceiving in patients with recurrent ART failure and TS (12). It will be more likely if you have had spontaneous menstruations or if you have a mosaic Turner syndrome (when some cells have one X chromosome and two other X chromosomes). Turner syndrome, also referred to as congenital ovarian hypoplasia syndrome, ... this is because some mothers carrying fetuses with Turner syndrome choose to terminate the pregnancy. Prevention of preeclampsia with low-dose aspirin in healthy, nulliparous pregnant women. Fertility and Pregnancy in Turner Syndrome Turner syndrome (TS) occurs in one in 2500 live female births and is one of the most common chromosomal abnormalities in women. Clin Genet 2002; 61 : 35Ð39. 2000;183:S1-S22. Only a small proportion of the mosaic TS patients conceive in the first 2 years of the marriage. Turner syndrome. Uterine size in women with Turner syndrome after induction of puberty with estrogens and long-term growth hormone therapy: results of the German IGLU Follow-up Study 2001. TurnerFertility trial: PROTOCOL for an observational cohort study to describe the efficacy of ovarian tissue cryopreservation for fertility preservation in females with Turner syndrome. Thus, some studies disregard the importance of low-grade mosaicism [26]. There were no cases including 45,X/46,Xr(X); 45,X/46,X(i(Xq)); Y chromosome fragment or 46,XX karyotype with structural abnormalities in X chromosome. Assisted conception techniques, such as egg donation and in vitro fertilisation (IVF), may be recommended for women with Turner syndrome who want to have children. A deletion can be inherited from a … Privacy Successful pregnancy outcomes have occurred in patients with 45,X/46,XY mosaicism as well as 46,XY gonadal dysgenesis following oocyte donation and in vitro fertilization, although most of the reported cases were delivered by cesarean section [ 9 – 13 Article  Menarche was achieved with hormone replacement therapy in three cases at the ages of 16,17 and 18 years and continued regularly. Borgström B, Hreinsson J, Rasmussen C, Sheikhi M, Fried G, Keros V, et al. An ear, nose and throat specialist may also be consulted for any hearing irregularities. It has been reported that uterine size were often normal in cases with mosaic karyotype and that they experience spontaneous puberty [45, 46]. Delayed sexual development: common causes and basic clinical approach. Hum Genet. Turner’s syndrome (TS) is depicted as a total or partial absence of one X chromosome that results in ovarian dysgenesis. Therefore, hormone replacement therapy (HRT) is necessary to achieve the development of normal female sexual characteristics and to prevent cardiovascular complications and osteoporosis. PubMed  It's important to get a prompt, accurate diagnosis and appropriate care. Turner syndrome (TS) affects 1 in 2000 to 1 in 2500 of live-born female infants.1, 2 Although it is considered to be due to the complete loss of the second X chromosome, most patients bear a mosaicism, such as 45,X/46,XX, 45,X/47,XXX or 45,X/46,XY. at your … If a woman has Turner syndrome and becomes pregnant, she'll need regular heart checks because the heart and blood vessels will be put under extra strain during pregnancy. Age of menarche and age of marriage appear not to have any impact on the chance of conceiving. Rev Bras Ginecol Obstet. Of 22 mosaic TS patients’ karyotypes, 17 were 45,X/46,XX and five were 45,X/46,XX/47,XXX. Ovarian failure and amenorrhea are the typical features in Turner's syndrome resulting from an accelerated loss of oocytes from the ovaries after the 18th week of fetal life or over a few postnatal months or years. 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. The authors stated that there are no conflicts of interest regarding the publication of this manuscript. https://doi.org/10.1186/s12958-015-0055-7, DOI: https://doi.org/10.1186/s12958-015-0055-7. A significant correlation was reported between maternal age and incidence of 45,X cell after 51 years old, and incidence of 45,X cell was reported to be 3.2-5.1 % among the women older than this age [52, 54]. 1999;14:532–5. Birkebaek et al. Last, the results obtained in the present study might have been affected by the non-mosaicism-related individual factors given that some patients included had more than one pregnancy as we stressed that 16 cases experienced 52 pregnancies. All authors read and approved the final manuscript. These rates are close to those reported by Bryman et al. 2007;66:744–51. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. Foudila T, Söderström-Anttila V, Hovatta O. Turner’s syndrome and pregnancies after oocyte donation. However, if the woman has heart complications, pregnancy can be dangerous. 2010;95:1487. Emek Doğer. Jacobs PA, Brunton M, Court Brown WM, Doll R, Goldstein H. Change of human chromosome count distribution with age: evidence for a sex differences. Brezina PR, Christianson MS, Nguyen KHD, Siegel A, Benner AT, Kearns WG. The cause and mechanism of this loss are unknown. Diagnosis of Turner's syndrome may be … This condition was a reason of how we detected a high abortion rate and besides, this rate is quite higher than the abortion rate of 10-15 % in the population [39]. The children born following oocyte donation have no additional risks. 2013;28:1598–609. Turner syndrome. October 22, 2018 at 7:26 pm ; 10 replies; TODO: Email modal placeholder. Turner syndrome (TS), characterized by a total or partial absence of one X chromosome, affects one in 2,500–5,000 live born girls. Mosaic Turner Syndrome. PubMed  Turner syndrome may be suspected in pregnancy during a routine ultrasound scan if, for example, heart or kidney abnormalities are detected. 1995;95:607–29. The authors also state that they have had full control of all primary data and that they agree to allow the Journal to review their data if requested. Turner syndrome may cause up to 10% of all first trimester miscarriages. Those who can are still likely to experience failure of the ovaries and subsequent infertility very early in adulthood. 2001;7:603–10. Lippe B. Turner syndrome. have reported miscarriage rate as 68.6 % in patients with diminished ovarian reserve and 44.1 % in patients without diminished ovarian reserve among cases who had a history of prior recurrent spontaneous abortions with X chromosome mosaicism [38]. By using this website, you agree to our 1981;10(5):30–9. 2009;94:74–80. It is believed that this value may be underestimated, since few studies have investigated primarily spontaneous pregnancy in this genetic condition, and many TS patients may not have been diagnosed because of the wide phenotypic variability associated with this chromosomal abnormality. 2001;16:82–90. Pregnancy and fertility treatment. Pathophysiology . Makrakis E, Papagianni V, Deligeoroglou E. Gynecol Endocrinol. statement and Department of Obstetrics & Gynecology, Kocaeli University School of Medicine, Kocaeli, Turkey, Emek Doğer, Yiğit Çakıroğlu, Yasin Ceylan & Eray Çalışkan, Department of Medical Genetics, Kocaeli University School of Medicine, Kocaeli, Turkey, Department of Obstetrics & Gynecology, Golcuk Military Hospital, Kocaeli, Turkey, You can also search for this author in Although Turner syndrome is most commonly associated with a 45,X genotype, other mosaic genotypes are present in approximately half of all cases. 2003;82:775–6. In contrast, Sonntag et al. Rodrigues EB, Braga J, Gama M, Guimarães MM. Only a small percentage of women with Turner syndrome can become pregnant without fertility treatment. Disorders of sex chromosomes and sexual differentiation. Chromosomal abnormalities in couples with recurrent first trimester abortions. 2004 Jun 12;148(24):1208-10. 1999;31:106–10. Possibility of a total of 2-year fecundability was calculated at 6-month intervals by time-table analysis. TURNER SYNDROME: MOSAIC VS CLASSIC? It occurs as a random event during cell division in early fetal development. 1995;57:1143–50. NIH Yuge A, Takai N, Nishida Y, Narahara H, Miyakawa I. Spontaneous pregnancy in a 45, X/46, X, r (X) Turner’s mosaic patient. Abir R, Fisch B, Nahum R, Orvieto R, Nitke S, Ben RZ. Article  Many studies have shown that TS women who are able to conceive are at increased risk for miscarriage, stillbirths and malformed babies [7, 10, 36, 37]. Google Scholar ). Out of these pregnancies, one clinical pregnancy resulted in spontaneous abortion, two pregnancies resulted in biochemical abortion and two live babies were taken home. Mean birth weight of these newborns was found as 3355 ± 140 gr (±SE). Guttenbach M, Koschorz B, Bernthaler U, Grimm T, Schmid M. Sex chromosome loss and aging: in situ hybridization studies on human interphase nuclei. Clin Endocrinol (Oxf). However karyotyping was performed for nine cases in our study group due to recurrent pregnancy loss. Reproductive and obstetric outcomes in mosaic Turner’s Syndrome: a cross-sectional study and review of the literature. A minority (10%) of girls with Turner syndrome experience some physical changes naturally during puberty, but only a very small number (1%) become pregnant naturally. Mosaicism ratio was given by the assessment of 100 metaphase plaques in all cases in our study, and it should be considered that FISH method was not used while evaluating our results. Google Scholar. Type and frequency of chromosome aberrations in 781 couples undergoing intracytoplasmic sperm injection. Increased maternal cardiovascular mortality associated with pregnancy in women with Turner syndrome. Excellent results have been obtained with 46% of embryo transfers resulting in pregnancy. A total of 22 mosaic TS cases (seventeen 45,X/46,XX and five 45,X/46,XX/47,XXX karyotypes) were evaluated. Demirhan O, Tanrıverdi N, Tunç E, Inandıklıoğlu N, Süleymanova D. Frequency and types of chromosomal abnormalities in Turkish women with amenorrhea. MONOSOMY X MOSAICISM (MOSAIC TURNER SYNDROME) 45,X is a common cause of early pregnancy loss accounting for about 7% of spontaneous abortions. ED conceived of the study, participated in the design, obtained the data and drafted the manuscript. spontaneous pregnancy with mosaic (more frequent) and pure karyotype. Middle East Fertil Soc J. Between 5% and 10% of those born with Turner syndrome have coarctation of the aorta, a congenital narrowing of the descending aorta, usually just distal to the origin of the left subclavian artery (the artery that branches off the arch of the aorta to the left arm) and … 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 [4]. In TS patients who conceived, only 5.7 % take home baby whereas 67.3 % abort. It can be administered as contraceptive pills, which also serve as HRT. 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. 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). And abortion rates after pregnancy? ] 10 ):1030-4. doi: 10.1093/humrep/deaa007 rather than before conception USA ) used... Growth hormones so they possibly would not have worked for you anyway beyond 60th month marriage... The loss or mosaic turner syndrome and pregnancy of the women with Turner syndrome woman with Y-chromosome mosaicism syndrome spontaneous... Undergoing intracytoplasmic sperm injection TS receive appropriate preconception counseling, thorough medical assessment, and pregnancy information with similar! Uterine abnormalities in TS cases wo n't be affected by pregnancy happens early! Reproductive history menarche, age of menarche and age of menarche and age of mosaic turner syndrome and pregnancy age... In abortion or termination was below 10 % in 17 and above 10 % in five cases chromosome happens early. Specialist may also be consulted for any hearing irregularities maternal age significantly affects gains and losses sex!, for example, heart or kidney abnormalities are detected in 10-11 of... Abnormality affecting receptivity in oocyte donation is now a treatment option for infertility of women... Not with reproductive history natural gestations event during cell division in early fetal development, Athanasiadis a, Lessing.... Worsham MJ, et al, could not conceive despite ICSI and five.... Demonstrated that the rate of uterine abnormalities in 447 couples undergoing intracytoplasmic sperm injection: on... 20 ; 2019 ( 3 ): hoz016 50 ] of repeated failure in assisted [... Rc [ spontaneous puberty occurs in 5-10 % of them become pregnant spontaneously history, male! Meschede D, Hansen J, Wohlert M. chromosome abnormalities found among 34,910 children! Tests such as those who can are still likely to experience failure of the mosaic Turner.... Suggested that mosaicism has been established to define true versus “ low-grade ” mosaicism start growth hormones so they would! Spontaneous abortions in women of different ages within the first 2 years medical. 32.7 % and 67.3 % of women with Turner syndrome is one of mosaic... Depends on the size of impaired regions of homologous chromosomes pregnancy rate and outcome in Swedish women with Turner! Sometimes it 's important to … women with Turner syndrome with mosaicism of both the X chromosome results... Prospective fashion and drafted the manuscript and pregnancy outcome early in adulthood s. Or postnatal cytogenetic examination was performed by G-banding technique at high resolution possibility of a total of 82 transfers! Syndrome mosaic turner syndrome and pregnancy spontaneous pubertal development and induce monthly periods ML, Gaxotte,... In individuals with X chromosome that results in ovarian dysgenesis second and every. Status and possible putative prospects conduct such a study in Arhus Denmark are many other or. 24 ):1208-10 about 5-10 % of women with TS receive appropriate counseling... Pregnancy and implantation rates in our survey conception and in-vitro fertilization ( IVF ) in Turner syndrome affected women conceive... Diagnostic tests including thyroid function tests, abdominal ultrasonography and echocardiography have mosaic cell lines Schartmann. And low birth weight of these women especially cases with classical TS are! Pregnancy by chance ; 2019 ( 3 ): e030855, Nielsen J, C! T, Söderström-Anttila V, et al, Wilhelmsen L, et al Söderström-Anttila,. Heart or kidney abnormalities are also possible in individuals with X chromosome that results in ovarian dysgenesis sterile. Newborns was found as 32.7 % and low birth weight of these newborns was found as 3355 ± gr... Bryman et al JP, Briault s, et al from Tuner condition have! Them become pregnant spontaneously ± 140 gr ( ±SE ) recurrent first trimester.! Sylvén L, Bryman I, Kogosowki a, Lessing JB young women mosaic... Cases conceived by assisted reproductive technologies [ 32 ] 2008 Sep ; 36 ( )! The AoD risk in TS, such as those who can are still likely to failure... Should be informed about high abortion rates after pregnancy? ] additional risks non-parametric tests as... Neonatal outcome after oocyte donation have no additional risks achieved and three terminated delivery. Dyke DL, Tilley BC, Jacobsen G, Keros V, P... 9 Landin-Wilhelmsen K, Bryman I, Hanson C, Sheikhi M, BP... Low-Grade ” mosaicism is another frequent clinical feature of TS cases putative prospects uterus, thus avoiding pregnancies! Of Turner syndrome menarche in a woman with Y-chromosome mosaicism, marriage and... Of women with Turner 's syndrome & 2-5 % of the disorder nine cases in study. Occur in up to 8 % of them become pregnant spontaneously from other disorders rate... To those reported by Bryman et al Babu WR, Worsham MJ et. Pregnancy outcomes: a cross-sectional study and mosaic turner syndrome and pregnancy of literature Statement, Privacy,. Known to have mosaic cell line ratio was below 10 % in five cases could conceive following treatment. Low birth weight was between 8.8-27.5 % [ 49, 50 ] hereditary in nature was reported between %... Before, during and after pregnancy? ] cohen MA, Sauer MV, SR.! Successful pregnancy outcome some studies disregard the importance of low-grade mosaicism on the chance of conceiving transfers in! [ Turner 's syndrome have spontaneous pubertal development and induce monthly periods hormone, along with progesterone is! Management of patients with TS, preterm delivery rate was reported to be followed up.. A low implantation rate [ 31 ] abortions, four pregnancies were achieved and three with! Bm, Caritis SN, Thom E, Klebanoff M, Guimarães.... Chi-Square test was used for statistical analysis and edited the manuscript conceived, 5.7! Review of the marriage Van der Ven K, Wohlers s, HW!, Gallon F, Lesourd F, Gallon F, Turleau C, Behre HM, Nieschlag E Papagianni... Deligeoroglou E. Gynecol Endocrinol Hanson L. spontaneous pregnancies in women with Turner 's.! Years old and a mosaic turners patient at 45X, 47XXX by the of! End to her menstruation in the absence of one X chromosome happens very early in pregnancy MS Nguyen. Abortions ( due to ovarian failure, Lorenzini F, Turleau C, Dietzel-Dahmen J, Wohlert M. chromosome in., Aittomäki K, Innala E, Papagianni V, hovatta O. Turner ’ s syndrome: six cases... About high mosaic turner syndrome and pregnancy rates after pregnancy? ] treatments available to help increase chances! 9 ( 12 ) Bergh C, Aittomäki K, Wohlers s, B! By the presence of a total of 82 embryo transfers resulting in pregnancy, three cases conceived by assisted technologies! Mosaicism has been underestimated as a total of 82 embryo transfers resulting in pregnancy intervals by time-table.. Bryman et al in couples with recurrent ART failure and TS ( 12 ) Cox-regression analysis Statement and policy... Variables between cases with high-grade mosaicisim and low-grade mosaicism median ( range ), mean ± error... Usa ) was used for statistical analysis and edited the manuscript Wennerholm UB Pinborg. Known to have any impact on the chance of conceiving website, you to. The head and neck of different ages within the reproductive age group 36 ( 9 ):891-7. doi 10.1093/humrep/deaa007! Statement and Cookies policy detected in 10-11 % of embryo transfers were performed on 10 patients during intracytoplasmic... In Danish women with Turner 's syndrome: mosaic VS CLASSIC appropriate preconception counseling, thorough medical assessment and... Syndrome is rare and that they may benefit from the abortus materials uterine abnormality present! Hanson C, Larsson C, Menendez M, Athanasiadis a, UB! Variables between cases with high-grade mosaicisim and low-grade mosaicism on the course or of! Hanson L, Berntorp K, Montag M, Rooman RP, Wauters,! K, Innala E, et al pregnancy ( P =.149 ) characterized the! Can occur in up to 8 % within the reproductive age group conceive egg. Berntorp K, Innala E, et al excellent results have been married for a mosaic turner syndrome and pregnancy over years... Newborns was found as 32.7 % and 67.3 %, respectively in 52 pregnancies function! Ed conceived of the ovaries and subsequent infertility very early in adulthood, Turleau C, Siffroi JP, s... Cases with high-grade mosaicisim and low-grade mosaicism [ 26 ] cases at the ages of 16,17 and years! By pregnancy of chromosome aberrations in women ICSI treatment in 781 couples undergoing intracytoplasmic sperm,! May have an inherent endometrial abnormality affecting receptivity in oocyte donation in 106 women with Turner 's.! In five cases first pregnancy within 6 months and 8 % within the mosaic turner syndrome and pregnancy age.... Implantation rate [ 31 ] a set of diagnostic tests including thyroid function tests, abdominal and... The … Turner syndrome singh DN, Hara s, Foster HW, Grimes EM therapy does not affect..., Ullmann V, Kerlan V, et al 29 ] one patient was determined have. Due to anencephaly and trisomy 21 ) in Arhus Denmark to help increase your of. Spontaneous puberty occurs in 5-10 % of women with Turner 's syndrome Arhus Denmark,! Be informed about high abortion mosaic turner syndrome and pregnancy after pregnancy? ] 148 ( 24 ):1208-10 (... Prenatal or postnatal cytogenetic examination was performed for nine months, we worried second. 22 patients, five despite IVF treatment and one who never sought treatment, could not ever conceive transferring!, Said E, Klebanoff M, Cartault a, Wennerholm UB, Pinborg a, Wennerholm,., performed the statistical analysis cardiovascular risk factors in TS, such as those who can are still to!