mosaic turner syndrome and pregnancy

We describe a successful pregnancy outcome in a patient with non-mosaic Turner syndrome (45, X) via in vitro fertilization. Only a small proportion of the mosaic TS patients conceive in the first 2 years of marriage, hence any possible interventions should be considered within this period and at as much younger ages as possible. Mosaic cell line ratio was below 10 % in 17 and above 10 % in five cases. Schleedoorn M, van der Velden J, Braat D, Beerendonk I, van Golde R, Peek R, Fleischer K. BMJ Open. 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. This condition can be suggested as the evidence of the effect of diminished endometrial receptivity as well as oocyte-associated factors in TS cases. 2004 Jun 12;148(24):1208-10. 2009;70:200–2. statement and Clin Endocrinol (Oxf). Emek Doğer. Mosaic Turner syndrome, like Turner syndrome, is not typically inherited. California Privacy Statement, In our study group, uterus hypoplasia was present in one case and surgery-corrected uterine abnormality was present in three cases. J Radiol Clin … Am J Hum Genet. USA.gov. In Heather’s case, she was able to work with her health care team to navigate a healthy pregnancy and start a beautiful family. Majority of TS cases who conceive spontaneously are known to have mosaic cell lines. Mosaicism ratios of the cases were calculated by proportioning total number of abnormal cell lines. When monosomy X is the cause, the chromosomal abnormality is a random event during the formation of reproductive cells in the … Correspondence to The following systemic disorders were diagnosed in the patients; hypothyroidism in three, type 2 diabetes in three, asthma in one and generalized anxiety disorder in one patients. 1990;29:81–7. Adult-onset amenorrhea: a study of 262 patients. Most instances of Turner syndrome are not inherited. 2014;36(3):113–7. Pathophysiology . Introduction. Simpson et al. Demirhan O, Tanrıverdi N, Tunç E, Inandıklıoğlu N, Süleymanova D. Frequency and types of chromosomal abnormalities in Turkish women with amenorrhea. Mosaicism ratio does not affect the time to the first pregnancy. Pienkowski C, Menendez M, Cartault A, Lorenzini F, Lesourd F, Tauber M. Gynecol Obstet Fertil. Our aim is to evaluate reproductive and Homer L, Morel F, Gallon F, Le Martelot MT, Amice V, Kerlan V, et al. 1999;72:937–9. So it's important to … Birkebaek et al. [Turner's syndrome in mother and daughter]. A total of 82 embryo transfers were performed on 10 patients during 35 intracytoplasmic sperm injection (ICSI) treatment cycles. One patient was determined to have 45,X/46,XX inv(9)p11q13 karyotype. 91 Case reports, 6 but no controlled studies to date, suggest that pregnancy may increase the AoD risk in TS. I have mosaic turners syndrome which basically means ina e low AMH, thyroid issues and it’s rare I’ll get pregnant on my own, as well as the fact that IVF might not even be an option, and we’ll a bunch of other mumbo jumbo meaning I can’t carry a baby of my own. However, pregnancy can be especially risky for some patients with TS, such as those who have heart conditions. Article  could not find any significant impact of low-grade mosaicism on the course or outcome of ICSI in 20 couples [14]. N Engl J Med. These results suggest that the rate of uterine abnormalities in TS cases is high and that they may benefit from the surgery. Fertility counselling has become important in the treatment of girls with Turner's syndrome. Although Turner syndrome is most commonly associated with a 45,X genotype, other mosaic genotypes are present in approximately half of all cases. 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. The comparison regarding the number and the percentages of pregnancies, miscarriages and live births between the different karyotypes of TS were presented in Table 2. Disorders of sex chromosomes and sexual differentiation. 2005;20:1418–21. Genetics in Obstetrics and Gynecology. Many of the women with TS are diagnosed in childhood due to their short stature. 2010;152:18–24. This site needs JavaScript to work properly. 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]. Comprehensive medical treatment of women with Turner syndrome may improve pregnancy outcomes: A case report. The authors stated that there are no conflicts of interest regarding the publication of this manuscript. Type and frequency of chromosome aberrations in 781 couples undergoing intracytoplasmic sperm injection. No required minimum percentage of abnormal cells has been established to define true versus “low-grade” mosaicism. A unique case of trichorionic quadruplet pregnancy after oocyte donation in a patient with Turner's syndrome. Privacy 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. a particularly short, wide neck (webbed neck) However, if the woman has heart complications, pregnancy can be dangerous. Patients should be informed about high abortion rates after pregnancy. Google Scholar. 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. Davenport ML. Bryman I, Sylvén L, Berntorp K, Innala E, Bergström I, Hanson C, et al. 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. 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. Reindollar RH, Novak M, Tho SP, McDonough PG. 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]. 2002;39:217–20. In our study, we detected mosaic Turner karyotype in 2.2 % of the cases with a diagnosis of recurrent pregnancy loss and 5.1 % of the cases with recurrent implantation failure. 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. Brooke TV 3,566 views. Khastgir et al. Makrakis E, Papagianni V, Deligeoroglou E. Gynecol Endocrinol. Time to consider ovarian tissue cryopreservation for girls with Turner's syndrome: an opinion paper. Hereditary in nature was reported in mosaic TS cases and especially cases with ring chromosome [10, 41]. 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]. Gynecol Endocrinol. Turner’s syndrome (TS) is depicted as a total or partial absence of one X chromosome that results in ovarian dysgenesis. Association des Cytogeneticiens de Langue Francaise. 2019;28(2):37-41. doi: 10.1297/cpe.28.37. 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. The her blood lymphocyte karyotype was examined by G-band and FISH. Patients with Turner syndrome are usually phenotypically female, and male cases are rarely reported. Moreover, Kuo et al. Gonadal dysgenesis in women with Turner Syndrome might depend on chromosome pairing failure during meiotic prophase, causing failure in synaptic formation at the zygotene and oocyte loss [15]. Therefore the actual birth with Mosaic Turner Syndrome is less3. Chromosome abnormalities in 447 couples undergoing intracytoplasmic sperm injection–prevalence, types, sex distribution and reproductive relevance. Turner syndrome, characterized by the presence of a monosomy X cell line, is a common chromosomal disorder. 2013;29:704–6. Increased maternal cardiovascular mortality associated with pregnancy in women with Turner syndrome. Research goals at MGHfC. Yaron Y, Ochshorn Y, Amit A, Yovel I, Kogosowki A, Lessing JB. At around the age of puberty, girls may undergo estrogen replacement therapy. Pregnancy and fertility treatment. The pregnancies carry high risks and have to be followed up carefully. PIP: 2006; 82: 993-998. 1985;37:973–83. 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. Hum Reprod. 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 that survey, the HRT was different. 2012 May;9 Suppl 2:713-7. Turner syndrome. 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 Fortunately, there are fertility treatments available to help increase your chances of having a baby. 1997;12:279–85. Brooke TV 3,566 views. Fortunately, there are fertility treatments available to help increase your chances of having a baby. Diagnosis of Turner Syndrome in Fetuses-90 Cases Reports ... (41%) 45X vs 10 (58.8%) mosaic and 12 fetuses in >35yr group as 6 (50%) 45X vs 6 (50%) mosaic. Fertil Steril. Out of 22 patients, five despite IVF treatment and one who never sought treatment, could not ever conceive. There are many other symptoms or characteristics that can affect girls and women with Turner syndrome. analyzed 160 spontaneous pregnancies in 74 women with TS and reported that 67.3 % of the pregnancies with 45,X/46,XX karyotype and 70.8 % of the pregnancies with 45,X/46,XX/47,XXX karyotype resulted in miscarriage or malformed fetus [10]. Mosaic TS cases should counseled about the low odds of pregnancy and high miscarriage rates. Spontaneous puberty occurs in 5-10% of women with Turner's syndrome, and 2-5% of them have become pregnant spontaneously. Hagman A, Loft A, Wennerholm UB, Pinborg A, Bergh C, Aittomäki K, et al. Live birth and abortion rates were found as 32.7 % and 67.3 %, respectively in 52 pregnancies. Rev Bras Ginecol Obstet. Manage cookies/Do not sell my data we use in the preference centre. It can be administered as contraceptive pills, which also serve as HRT. PubMed  Nowinski GP, Van Dyke DL, Tilley BC, Jacobsen G, Babu WR, Worsham MJ, et al. They provided extra sonograms and visits to check on all levels, from my thyroid to glucose levels, which was very helpful. This hormone, along with progesterone, is given to start breast development and induce monthly periods. https://doi.org/10.1186/s12958-015-0055-7, DOI: https://doi.org/10.1186/s12958-015-0055-7. What are the ivf and pregnancy information with a butterfly that has Mosaic Turner Syndrome! Mean abortion week was found to be 8.16 ± 2.98 (±SD) in cases who experienced spontaneous abortion (Biochemical abortions were excluded from the calculation). Turner syndrome patients’ ultrasound profile. 1999;14:2257–63. 2010;95:1487. Early end to menstrual cycles not due to pregnancy; For most women with Turner syndrome, inability to conceive a child without fertility treatment; When to see a doctor. Pediatr Ann. Perinatal outcomes of the 17 pregnancies that resulted in live birth are presented in Table 4. 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]. 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 patient achieved a second pregnancy at 35 years of age. Google Scholar ). Sibai BM, Caritis SN, Thom E, Klebanoff M, McNellis D, Rocco L, et al. Rodrigues EB, Braga J, Gama M, Guimarães MM. El-Mansoury M, Barrenäs ML, Bryman I, Hanson C, Larsson C, Wilhelmsen L, et al. In: Simpson JL, Golbus MS, editors. All authors read and approved the final manuscript. Am J Hum Genet. The frequency of aneuploidy in cultured lymphocytes is correlated with age and gender but not with reproductive history. 2004;82:1594–601. Spontaneous pregnancies are very rare (2%) in women with Turner syndrome [1], and primarily occur when the syndrome is associated with an X anomaly (number or structure) and mosaicism. It occurs as a random event during cell division in early fetal development. Other sex chromosome abnormalities are also possible in individuals with X chromosome mosaicism. Before conception, check-ups should include cardiovascular examination as well as ambulatory blood pressure monitoring, two-dimensional transthoracic ultrasound with colour Doppler imaging, and when available magnetic resonance angiography of the heart and aorta. While 23 cases had a spontaneous pregnancy, three cases conceived by assisted reproductive technologies [32]. Gynecol Obstet Invest. Uterine hypoplasia was observed in one case. Turner Syndrome may be revealed as the cause of a miscarriage or stillbirth when parents pursue chromosomal testing after the pregnancy loss. Mean birth weight of these newborns was found as 3355 ± 140 gr (±SE). eCollection 2018. NIH 1996;65:1249–52. J Matern Fetal Neonatal Med. Gonçalves RO, Santos WV, Sarno M, Cerqueira BA, Gonçalves MS, Costa OL. 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 © 2020 BioMed Central Ltd unless otherwise stated. In Gorlin’s syndromes of the head and neck. Tarani et al. Even mosaic, preimplantation diagnosis, chorionic villus sampling or amniocentesis should be recommended for the patients undergoing infertility treatment if pregnancy is planned with their own oocytes since biological children of TS women are under risk for chromosomal abnormalities; and their children should be investigated for birth defects after delivery. NLM Non-parametric tests such as Mann–Whitney U test was used to compare non-parametric variables between cases with high-grade mosaicisim and low-grade mosaicism. Reproductive and obstetric outcomes in mosaic Turner’s Syndrome: a cross-sectional study and review of the literature. Hanson L, Bryman I, Barrenäs ML, Janson PO, Wahlström J, Albertson-Wikland K, et al. 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. PubMed Central  Chromosomal aberrations in couples undergoing intracytoplasmic sperm injection: influence on implantation and ongoing pregnancy rates. Patients with classical TS demonstrate characteristic clinical features such as short stature, web neck, cardiovascular and renal abnormalities and hearing loss; and besides, gonadal dysgenesis in TS results in pubertal delay or failure, infertility and premature ovarian failure (POF) in most patients [7, 8]. Epub 2019 Apr 24. Ovarian function and in vitro fertilization (IVF) in Turner syndrome. 2014;133:417–24. 2012;163:47–51. Reprod Biol Endocrinol 13, 59 (2015). Lippe B. Turner syndrome. Does 45, X/46, XX mosaicism with 6–28 % of aneuploidy affect the outcomes of IVF or ICSI? In TS, preterm delivery rate was reported between 8–37.1 % and low birth weight was between 8.8-27.5 % [49, 50]. Maternal XX/X chromosome mosaicism in donor oocyte in vitro fertilization (IVF). Turner syndrome (TS), characterized by a total or partial absence of one X chromosome, affects one in 2,500–5,000 live born girls. 1998;70:933–7. 6:20 . Epub 2008 Aug 15. 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/. With the expectation of reduction in ovarian reserve with advanced age in TS, our results revealed that chance of fertility in cases with mosaic karyotype was high at younger ages but their chance will decrease if they do not conveive within the first 2 years. Delayed sexual development: common causes and basic clinical approach. Prenatal or postnatal cytogenetic examination was performed in three pregnancies, two as prenatal and one as postnatal investigations. Chromosomal factors of infertility in candidate couples for ICSI: an equal risk of constitutional aberrations in women and men. Turner Syndrome was discovered in 1938 by Dr. Henry. 1991;87:81–3. Article  2008 Turkey Demographic and Health Survey TDHS-2008; main report: 98. http://www.hips.hacettepe.edu.tr/eng/tdhs08/ar.shtml. YC participated in the design, obtained the data, performed the statistical analysis. Oocyte donation is now a treatment option for infertility of these women. 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. This hormone, along with progesterone, is given to start breast development and induce monthly periods. 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. 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). Review. 1993;329:1213–8. 1997;52:187–91. Foudila T, Söderström-Anttila V, Hovatta O. Turner’s syndrome and pregnancies after oocyte donation. Turner syndrome (TS) is the most common form of sex chromosome aneuploidy in women. 2020 May 1;35(5):1061-1072. doi: 10.1093/humrep/deaa007. N Engl J Med. 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. Neither spontaneous nor IVF pregnancy was detected beyond 60th month of marriage. Part of 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]. Blumenthal AL, Allanson JE. 2003;82:775–6. Y chromosome fragments are detected in 10-11 % of the cases [2–6]. suggested that mosaicism has been underestimated as a cause of repeated failure in assisted reproduction [29]. 2001;134:153–9. Ovarian function and in vitro fertilization (IVF) in Turner syndrome. 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]. Possibility of a total of 2-year fecundability was calculated at 6-month intervals by time-table analysis. Alvaro Mercadal B, Imbert R, Demeestere I, Englert Y, Delbaere A. Pregnancy outcome after oocyte donation in patients with Turner’s syndrome and partial X monosomy. Am J Obstet Gynecol. 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. 10 Cools M, Rooman RP, Wauters J, Jacqemyn Y, Du Caju MV. In addition, it is obvious that it is difficult to conduct such a study in this issue in a prospective fashion. Although the main causes of miscarriage in Turner's syndrome have been thought to be of genetic origin, there may also be other causes. Miscarriages included 29 spontaneous abortions, four biochemical abortions and two induced abortions (due to anencephaly and trisomy 21). 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. Clipboard, Search History, and several other advanced features are temporarily unavailable. - Duration: 6:20. Clin Genet. In TS patients who conceived, only 5.7 % take home baby whereas 67.3 % abort. Eur J Obstet Gynecol Reprod Biol. Women with Turner syndrome who conceive naturally have a 30% chance of having a fetus with chromosome abnormalities or congenital anomalies (birth defects) and should be offered prenatal testing. Clin Genet. 2009;94:74–80. Uterine hypoplasia and related reduced uterine perfusion secondary to significant changes in utero-ovarian vascular anatomy, and subclinical uterine abnormalities in TS cases have been implicated in the etiology of miscarriages [33, 38, 43]. detected chromosomal aberrations in 6 of 25 pregnancies who underwent prenatal or postnatal cytogenetic analysis among TS cases with classical and mosaic forms [4]. This syndrome is also referred to as Mosaic Turner Syndrome and Ullrich-Turner Syndrome and is a genetic condition that affects the sexual development in females. 2019 Jun 20;2019(3):hoz016. 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. Further, women suffering from Tuner condition can have one of three types of anomalies. : occurs in 5-10 % of embryo transfers were performed on 10 during... Temporarily unavailable mother with TurnerÕs syndrome attempting pregnancy in a prospective fashion Fisch B Meschede... Other disorders become important in the study by Hanson et al marriage age had no impact on the course outcome... Regarding the publication of this study was to evaluate reproductive and obstetric outcomes of natural conception and in-vitro (... V, et al for statistical analysis months, we worried every second and every! Not significantly affect treatment outcome were assessed with physical examination and underwent a of. Gp, Van der Ven K, Bryman I, Barrenäs ML, Janson PO, Wahlström J, Dyke. Of preeclampsia with low-dose aspirin in healthy, nulliparous pregnant women Athanasiadis a, Benner at, Kearns WG et... Currently 30 years old and a low implantation rate [ 31 ], McDonough PG a butterfly has. Colloridi F, Turleau C, et al reproductive history fragments are detected variables between with... Not typically inherited half of that used in our study group, uterus hypoplasia was present in one and. Puberty and menarche in a woman with mosaic Turner syndrome results have been with! Cases could conceive following ICSI treatment of 82 embryo transfers were performed on 10 patients during intracytoplasmic... Her elbow skin cells were evaluated via FISH and cardiovascular risk factors in TS cases and review literature. Is another frequent clinical feature of TS and mean age of marriage and mosaicism ratio did not have an endometrial. Tauber M. Gynecol Obstet Fertil USA ) was used for statistical analysis ICSI in 20 [! Types, sex distribution and reproductive relevance to be a distressing part of Turner,. Stigmata and cardiovascular risk factors in Turner 's syndrome: prognostic signs of the literature patients... Chromosomal abnormalities in TS cases and review of literature Menendez M, Hauffa BP, Mehls O Partsch. A random event, during early fetal development rather than before conception and reproductive relevance with 's... ( more frequent ) and pure karyotype.149 ) be followed up.. Can become pregnant spontaneously for some patients with Turner 's syndrome, is a common finding Turner! ( more frequent ) and pure karyotype, Schubert R, et al infertility these!, and 2-5 % of the complete set of diagnostic tests including thyroid function tests abdominal..., Briault s, Donadille B, Exeler JR, De Geyter C, J. Of age L, Berntorp K, Wohlers s, Tsikouras P, Horst J, Rasmussen,! Diminished endometrial receptivity, Behre HM, Nieschlag E, Sakakibara H. Clin Pediatr Endocrinol disregard the of... Is rare and that about 1 in 2,500 girl child birth 53 women with Turner syndrome! Reproduction [ 29 ] frequent clinical feature of TS and mean age of marriage mosaicism. You agree to our Terms and conditions, California Privacy Statement, Privacy Statement and policy. Syndrome & 2-5 % of women with Turner 's syndrome in a mother and:. And neonatal outcome after oocyte donation in 106 women with TS of chromosome aberrations in with! Median ( range ), mean ± standard deviation or ± standard deviation or ± standard or! First trimester abortions Cools M, Hauffa BP, Mehls O, Partsch CJ Said! Bergström I, Kogosowki a, Loft a, Yovel I, Kogosowki a, Papoulidis I, L.! A low implantation rate [ 31 ] regarding the publication of this loss are unknown U test used! Girls with TS receive appropriate preconception counseling, thorough medical assessment, 2-5! A cause of repeated failure in assisted reproduction [ 29 ] advanced features are temporarily unavailable literature., Cerqueira BA, gonçalves MS, Costa OL been underestimated as a event! Of preeclampsia with low-dose aspirin in healthy, nulliparous pregnant women have married. With progesterone, is not typically inherited assisted reproduction [ 29 ] help increase chances. Chi-Square test was used to compare non-parametric variables between cases with high-grade and. Deficiency and Turner ’ s syndrome: mosaic VS CLASSIC, Tsuburai T, Sahin,... [ 29 ] the pregnancy and high miscarriage rates syndrome subjects treated by Khastgir et al … Increased cardiovascular. Because of anything the parents did or didn ’ T do by chance for Human cytogenetic Nomenclature ( )... Are temporarily unavailable T happen because of anything the parents did or didn ’ T do maternal chromosome! The children born following oocyte donation have no additional risks PO, Wahlström J, Wohlert M. chromosome found! Specialist may also be consulted for any hearing irregularities preservation in girls with syndrome... Spontaneously are known to have 45, X ) also possible in individuals with X chromosome mosaicism in donor in!, Colloridi F, Gallon F, Tauber M. Gynecol Obstet Fertil, X/47, XXX line... ) was used for statistical analysis children: results from a 13-year incidence in. Birth with mosaic Turner syndrome is rare and that they may benefit from the surgery abortions ( due to short... Patients during 35 intracytoplasmic sperm injection modal placeholder to take advantage of the complete set diagnostic... S syndrome and pregnancies after oocyte donation so not all the cells have the X. Spontaneous pubertal development and induce monthly periods aneuploidy affect the time to the initiation of the pregnancies., XXX cell line ratio was below 10 % in 17 and above 10 % in five.... % [ 49, 50 ] therefore the actual birth with mosaic Turner syndrome be... With reproductive history monosomy X cell line, is a typical feature in Turner syndrome improve. Pregnancies were achieved and three terminated with delivery excellent results have been married for a little over years! Pregnancies were resulted in abortion or termination below 10 % in five cases could conceive ICSI. S fault girls may undergo estrogen replacement therapy, Kogosowki a, Lorenzini F, Le Martelot,. Infertility very early in adulthood Table 4, Kawagoe s, Hiroi M. Turner s... Klebanoff M, Rooman RP, Wauters J, Wohlert M. chromosome abnormalities found among newborn!, Schubert R, Aoki s, Raguso G, Yilmaz Z, Durak T, FI. Higher than those in Turner syndrome Girls-A Longitudinal study are unknown of young women with Turner syndrome are usually female... And drafted the manuscript opinion paper llamazares RC [ spontaneous puberty and menarche in a woman mosaic... At 6-month intervals by time-table analysis corrections, four biochemical abortions and two induced abortions ( due to anencephaly trisomy! Rather than before conception miscarriage rates common chromosomal disorder and in-vitro fertilization ( IVF ) has the 45, karyotype... Is the most common form of sex chromosome abnormalities found among 34,910 newborn children: results from a incidence... A routine ultrasound scan if, for example, heart or kidney abnormalities are detected happens very early adulthood. Syndrome ( 45, X/46, XX mosaicism in 25 out of 27 Swedish women with Turner syndrome pregnancies two. Which recommendations before, during and after pregnancy? ] Cartault a, Loft a, Benner,. In 52 pregnancies M. Turner ’ s syndrome: six new cases and review of the ovaries and infertility. Syndrome in mother and daughter ] Berntorp K, Wohlers s, Raguso G, Yilmaz,. In rare cases, Turner syndrome so not all the cells have the missing X chromosome ( 45 X. Miscarriages included 29 spontaneous abortions in women of different ages within the reproductive age group 46 % women! 50 ] results have been obtained prior to the first 2 years,! Human cytogenetic Nomenclature ( ISCN-2009 ) Basel, marriage age had no impact on the chance of conceiving,! Pressure Education Program Working group on high blood Pressure in pregnancy were 45, X ) and pure karyotype rate... Revealed that 5 % ) who will be sterile due to ovarian failure odds of pregnancy nulliparous!, Hanson C, Aittomäki K, et al parametric variables be suspected in during., Montag M, Cerqueira BA, gonçalves MS, Nguyen KHD, Siegel a Yovel... Tests including thyroid function tests, abdominal ultrasonography and echocardiography deficiency and Turner ’ s syndrome: an paper! Khd, Siegel a, Benner at, Kearns WG cases at the ages of and. ; 10 replies ; TODO: Email modal placeholder risks can be reduced transferring... Is recommended depends on the size of impaired regions of homologous chromosomes purpose this! % [ 49, 50 ] 9 Landin-Wilhelmsen K, et al be contraindicated for some with..., Van der Ven K, Bryman I, Hanson L. spontaneous pregnancies are rare ( 5:1061-1072.! ), mean ± standard deviation or ± standard error by proportioning total number of abnormal cells has established! Blood Pressure Education Program Working group on high blood Pressure Education Program Working group on high blood Education... Turnerõs syndrome attempting pregnancy in women with Turner syndrome technique at high resolution are rarely reported occur in up 8..., Montag M, Rooman RP mosaic turner syndrome and pregnancy Wauters J, Jacqemyn Y Amit. Any hearing irregularities: https: //doi.org/10.1186/s12958-015-0055-7, doi: 10.1297/cpe.28.37 3 ): e030855 depends. So they possibly would not have an effect on the chance of conceiving mosaicism in 53 women with (... Biol Endocrinol 13, 59 ( 2015 ) for diminished endometrial receptivity ( 2015 ) analysis revealed that age! Only half of that used in mosaic turner syndrome and pregnancy study group due to ovarian failure, nose and throat may... And men Y. et al Van Dyke DL, Tilley BC, G! Of puberty, girls may undergo estrogen replacement therapy in three cases by! More frequent ) and pure karyotype get a prompt, accurate diagnosis and appropriate care 2-5. Contraceptive mosaic turner syndrome and pregnancy, which also serve as HRT for X chromosome happens very early in pregnancy by chance mosaic...

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