Turner syndrome miscarriage recurrence. | Find, read and cite all the research .

Turner syndrome miscarriage recurrence Pregnancy may have a good outcome in these patients de-spite the greater likelihood of recurrent miscarriage. The couple was referred by the gynecology team for a complaint of RAs. My experience was very similar - went to my first ultrasound at 10 weeks in October, found out that the baby’s heartbeat had stopped at 9w1d due to Turner Syndrome. In these cases the prognosis is good. Al … Oct 22, 2024 · Turner syndrome: One of the two sex chromosomes is missing or incomplete. While there are many recurrent miscarriage causes, the most common is a genetic error during the first few days after conception. From my basic googling, it sounds like this is random/bad luck and is very unlikely to happen again. She delivered a live boy weighing 3260 g (50 th percentile) and measuring 48 cm (50 th percentile) with normal karyotype at term. Monosomy x, or Turner's Syndrome. This Review presents an updated discussion of the pathogenetic mechanisms and management Jun 10, 2025 · Antiphospholipid syndrome and some recurrent miscarriage-related endocrinological disorders can be effectively treated 5. To assist parents expecting a baby with TS, the Turner Syndrome Foundation (TSF) has created a new resource, Prenatal Testing & Information About Turner Syndrome, which is Recurrent miscarriage is the spontaneous loss of three or more consecutive pregnancies with the same biological father in the first trimester, and affects 1% to 2% of women, half of whom have no identifiable cause. Her first and fourth pregnancies resulted in miscarriages during the first trimester. Roughly 80,000 American women and girls are living right now with Turner Syndrome. Table 1. 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. Some doctors will start testing for recurrent miscarriages after two, but I know a lot around here won't until after 3. 276 adults with cytogenetically-proven TS participating in an intramural natural history protocol None. Just received my results back from my D&C 6 weeks ago - the baby was a girl with monosomy X (Turner syndrome). To date, TS is not known to be associated with environmental factors or any other factors generally associated with genetic problems, such as advanced maternal age. It may range from the complete phenotype of TS characterised by short stature, ovarian failure, cardiac and renal abnormalities, with milder Jan 29, 2021 · Turner syndrome is one of the most common sex chromosomal disorders. Retrospective case series. Jun 26, 2002 · Advanced maternal age is not associated with this aneuploidy. 148 We recommend the use of ‘recurrent pregnancy loss’ to describe repeated pregnancy demise and to 149 reserve ‘recurrent miscarriage’ to describe cases where all pregnancy losses have been confirmed as 150 intrauterine miscarriages. TS affects people differently, so each person has unique health needs and characteristics. New therapeutic approaches and the pleiotropic effects of old ones have led to improved fetal-maternal outcomes 5. Sep 24, 2013 · In early childhood, girls who have Turner syndrome may have frequent middle ear infections. Not applicable. May 21, 2021 · Abstract The information on the genotype-phenotype relationship in Turner Syndrome (TS) is inadequate because very few specific candidate genes are linked to its clinical features. Chances of spontaneous pregnancy in TS are rare and the outcome of the Dec 1, 2001 · Reports of an increase of chromosome abnormalities in sperm from the male partners of women experiencing recurrent miscarriage suggest that paternal factors could be important in this subgroup (Giorlandino et al. This genetic defect causes infertility in most cases, but less commonly in patients with the mosaic form of Turner syndrome. Risk factors Dec 20, 2023 · Miscarriages, also known as spontaneous abortions, are a heartbreaking experience for couples trying to start a family. A retrospective study of 100 controlled ovarian stimulating cycles, 68 TS (sixty-four mosaic Turner Aug 23, 2025 · The silence after a miscarriage is profound, a heavy quiet where hope once lived. The analysis showed mos 45,X [9]/46,XX [38] mosaic Turner syndrome. Mar 21, 2020 · Finally, this chapter summarizes the recommended genetic testing when Turner syndrome is suspected in both a prenatal and a postnatal setting and recurrence risks when a family has had one girl with Turner syndrome. 1 - 4 The genetic disorder is characterised by short stature, premature ovarian Conclusion: The diagnosis of mosaic Turner syndrome should be considered in women who have recurrent abortion. We used the microarray data of TS to identify the key regulatory genes implicated with TS through a network approach. Find out what specialists you should see, how often, and what tests they should recommend. Early diagnosis is vital to treat TS-related health issues and Jun 18, 2019 · Turner syndrome is a rare disorder of women associated with complete or partial loss of one X chromosome. The second trimester sees a slightly reduced but still significant risk, with miscarriage rates ranging from 30-50% depending on the severity of the condition and any associated complications. They don’t go through normal puberty as they grow into adulthood. Diagnosis: Cystic hygroma is the most characteristic prenatal feature in this syndrome. Genetic abnormalities are considered one of the leading causes. A retrospective study of 100 controlled ovarian stimulating cycles, 68 TS (sixty-four mosaic Turner Turner syndrome (TS) is a common sex chromosome disorder, with a varied clinical spectrum and prognosis. It is one of the more commonly occurring chromosomal aneuploidies. It is a chromosomal condition and was fi rst fully described by an American, Dr Henry Turner in 1938. May 21, 2021 · The causative factors of two common co-morbidities, Type 2 Diabetes Mellitus (T2DM) and Recurrent Miscarriages (RM), in the Turner population, are expected to be different from that of the general Purpose: The purpose of this study is to explore the reproductive outcomes of women with Turner syndrome (TS) in preimplantation genetic testing (PGT) cycles. TS can cause a variety of medical and developmental conditions. Dec 22, 2024 · What Is a Recurrent Miscarriage? A recurrent miscarriage is defined as having two or more consecutive pregnancy losses before the 20th week of gestation. May 5, 2010 · The questions concerned the check-up before pregnancy of Turner patients, contraindication and acceptance of pregnancy, information for the patients, and recommendations for antenatal care, delivery and postnatal follow-up. A variety of signs, including short stature and frequent ear infections, should automatically signal the need for diagnostic testing to rule out the disorder or initiate 0 likes, 0 comments - recurrentmiscarriageclinic on May 18, 2025: "It’s time for TSSS to celebrate its achievements. Overall, they After the first trimester, the miscarriage rate is equal to any pregnancy without a TS diagnosis. Recurrence: Isolated or part of Turner syndrome: no increased risk of recurrence. A wider study would be useful to confirm these data to improve genetic counseling for families with … Recurrent pregnancy loss in a woman with Turner Syndrome and Triple X mosaicism: A case report Aug 5, 2016 · WHAT IS IT? Also known as 45,X ; monosomy X; Turner’s syndrome; Ullrich-Turner syndrome. 1998; Rubio et al. Turner syndrome is diagnosed in females with partial or complete absence of one X chromosome (45,X karyotype). (1) focuses on comparing preimplan-tation genetic testing for aneuploidy (PGT-A) and oocyte donation (OD) as alternative treatments in the clinical context of mosaic Turner syndrome. Clinical mani-festations vary and may be subtle, but they usually include short Jan 17, 2018 · Although the recurrence risk is not increased, genetic counseling is often recommended for families who have had a pregnancy or child with Turner syndrome. Spontaneous conception among patients with Turner syndrome is extremely rare; such cases have been reported mainly in mosaics because mosaic Turner syndrome is associated with infertility, secondary amenorrhea, and recurrent abortions. There are two approaches. The causative factors of two common co-morbidities, Type 2 Diabetes Mellitus (T2DM) and Recurrent Simplify your Turner syndrome healthcare with easy-to-understand guidelines and checklists. In cases of previous history of CH in the setting of a genetic syndrome the recurrence risk will depend on the inheritance pattern and type of genetic syndrome. Its main clinical manifestations include growth disorders, reproductive system abnormalities, Monosomy X Monosomy X is the single most common chromosomal abnormality among spontaneous abortions, accounting for 15% to 20% of abnormal specimens (see Table 27-2). Aug 4, 2020 · Approximately 60% to 70% of pregnancy losses are most commonly chromosomally abnormal, whether as an isolated event (one) or recurrent which is considered to be two or more consecutive losses. It is a genetic condition that, if present in a fetus, causes significantly increased risk for miscarriage and prenatal complications such as heart defects. Genetic testing can be performed on tissue from a miscarriage to identify whether a chromosome abnormality was involved. MFM is telling me 99% chance of miscarriage…wondering if your baby was diagnosed in utero or after miscarriage—when did it happen?? Women with Turner syndrome have a threefold increase in mortality, which becomes even more pronounced in pregnancy. Accelerated ovarian follicular loss leads to primary amenorrhoea To assess fetal and maternal outcomes of pregnancies in women with Turner syndrome (TS). However, their pregnancy outcomes remain unclear. Aug 3, 2017 · PDF | Turner syndrome (TS) is characterized by complete or partial absence of one X chromosome (45X0). Nov 13, 2025 · Sara is a woman who lost her second child in utero due to Turner Syndrome (TS). Genetic causes Most spontaneous miscarriages are caused by an abnormal (aneuploid) karyotype of the embryo. The purpose of this study was to evaluate the association between Turner syndrome and pregnancy, delivery, and neonatal outcomes. 1999 I am about 15 weeks, NIPT, CVS and cystic hygroma on ultrasound has confirmed classic/ full Turner’s syndrome. Sep 14, 2022 · Our objective was to report the rare case of a couple complaining of recurrent miscarriages (RA), where the wife had Turner syndrome (TS). She became a charming, expressive and intelligent girl, although of very small stature. Jun 21, 2018 · Introduction Turner syndrome (TS) is the commonest sex chromosome abnormality in females, affecting approximately 3% of all females conceived. Recurrent infections can lead to hearing loss in some cases. A 39-year-old multigravid woman (G5, P3, A2) with mosaic Turner syndrome with a history of three spontaneous pregnancies and two miscarriages was evaluated at our clinic. The article by Giles et al. Recurrence risk: Considering that Turner syndrome is a sporadic event in the majority of the cases, chances of recurrence are extremely low, although not precisely known. When a baby is born with Turner syndrome there are often few The causative factors of two common co‑morbidities, Type 2 Diabetes Mellitus (T2DM) and Recurrent Miscarriages (RM), in the Turner population, are expected to be dierent from that of the general population. Most abnormalities that are identified occurred by chance and do not mean that a person has a high risk of another miscarriage. This observation suggests that a risk of recurrence is possible, even though it is generally assumed that the likelihood of recurrent pregnancies with TS is similar to that in the general population. Girls with TS are shorter than most girls. Aug 29, 2024 · Turner syndrome may be revealed as the cause of a miscarriage or stillbirth when parents pursue chromosomal testing after the pregnancy loss. While there are various factors that can cause a miscarriage, recent research has shed light on the role of genetic abnormalities in pregnancy loss. While miscarriages occurs in up to 99% of every pregnancy in which TS is present, each pregnancy is different. Some girls, however, have problems with math, memory skills and fine-finger movements. Jun 10, 2015 · Background Turner’s syndrome (TS) is depicted as a total or partial absence of one X chromosome that results in ovarian dysgenesis. 8 About 30% of these pregnancies have a normal outcome, while the rest become complicated by chromosomal To assess national-level trends, characteristics, and outcomes of pregnancies complicated by Turner syndrome. Explore symptoms, inheritance, genetics of this condition. Turner’s syndrome (TS) is depicted as a total or partial absence of one X chromosome that results in ovarian dysgenesis. Clinical research center. After birth, individuals with Turner syndrome have an increased risk for growth issues Aug 23, 2025 · The silence after a miscarriage is profound, a heavy quiet where hope once lived. At One-third of all women with Turner syndrome have kidney abnormalities: including single, horseshoe-shaped kidney on one side of the body, abnormal urine-collecting system, and poor blood flow to the kidneys The kidneys of most women with Turner syndrome function normally. Feb 19, 2025 · Genetic testing may explain the cause of recurrent miscarriages. While miscarriage is common, recurrent miscarriage creates a unique kind of heartache, often intensified by uncertainty and unanswered questions. Results: Embryo X These genes were used to construct the PPI network to get the elaborated view in terms of protein–protein interactions in TS. Feb 11, 2022 · Turner syndrome may be diagnosed before birth (prenatally), during infancy or in early childhood. I am so, so sorry for your losses. Parental genetic counseling is recommended prior to subsequent pregnancies. It was first described app May 10, 2021 · Single nucleotide polymorphism (SNP) array and karyotype analyses were conducted on 441 spontaneous miscarriage placental villous tissues collected from women from southern China. Conclusion: The diagnosis of mosaic Turner syndrome should be considered in women who have recurrent abortion. Girls and women with Turner syndrome need ongoing medical care from a variety of specialists. What does this mean? Your patient’s noninvasive prenatal testing (NIPT) result suggests the presence of one X sex chromosome and the absence of a second sex chromosome. Unlike adult 45,X May 27, 2024 · Abstract Objective Many women with Turner syndrome (TS) will consider fertility options and pregnancy. Occasionally, in females with mild signs and symptoms of Turner syndrome, the diagnosis is delayed until the teen or young adult years. The recurrence mostly depends on the underlying cause. This condition occurs in approximately 1 per 3,000 female births, but, paradoxically, is also a common cause of miscarriage. A routine sonogram showed a hygroma – more genetic tests and Turner syndrome (TS), also known as 45,X, is a genetic disorder caused by the partial or complete lack of an X chromosome. It should be detected during a girl’s first few years of life, if not at birth, for the best possible outcomes. The causative factors of two common co-morbidities, Type 2 Diabetes Mellitus (T2DM) and Recurrent May 30, 2025 · INTRODUCTION Turner syndrome (TS) is a sex chromosome disorder that affects phenotypic females with one intact X chromosome and complete or partial absence of the second sex chromosome in association with one or more specific clinical manifestations. Turner's syndrome (TS) is depicted as a total or partial absence of one X chromosome that results in ovarian dysgenesis. , Patau syndrome, Edwards syndrome, Down syndrome, Klinefelter syndrome, Turner syndrome, and trisomy XXX and XYY), but diploid sperm have been linked to an increase in triploid embryos, more related to miscarriages [26]. Our aim is to evaluate reproductive and obstetric outcomes of natural conception and in-vitro Pregnancy in women with Turner syndrome is associated with an increased risk of aortic dissection. Miscarriage often brings a range of emotions for those in its shadow, from sadness to anger, guilt, loneliness, anxiety, depression, and beyond. Pregnancy may have a good outcome in these patients despite the greater likelihood of recurrent miscarriage. It is believed 99% of all 45,X conceptions result in miscarriage. Although the classic karyotype is 45, X, the detection of mosaic TS is increasing. Abstract May Thurner Syndrome contributes to thromboembolic disease and can cause significant morbidity in pregnant patients secondary to exaggerated anatomic relationships and physiologic changes in the hematologic system favoring thrombogenesis. An increase in sperm abnormalities has also been reported in the fathers of females with Turner syndrome (X-monosomy) (Martinez-Pasarell 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 cvs. ) May 21, 2021 · Network-based analysis of key regulatory genes implicated in Type 2 Diabetes Mellitus and Recurrent Miscarriages in Turner Syndrome. To determine the relationships between luteal-phase steroidal hormonal profile and PMS for a large number of women attending a dedicated fertility clinic. Results: Embryo X Apr 16, 2025 · Turner syndrome significantly impacts pregnancy, with high miscarriage rates observed in both the first and second trimesters. Nov 13, 2025 · This article focuses on miscarriage and its connection to Turner Syndrome (TS). From Establishing whether miscarriages result from fetal aneuploidy or other factors is important for treating recurrent pregnancy loss. But it's worth calling your doctor about if you'd like testing done. In 10% of cases the fetal karyotype is normal, there are no other obvious defects and the hygromas resolve during pregnancy. If I already have a child with Turner Syndrome, what is the risk of it occurring again in future pregnancies? Turner Syndrome occurs randomly, so having a child with TS will not increase in the risk of it occurring again in a future pregnancy. Get expert advice from UT Southwestern Medical Center's pregnancy specialists. Lower prevalence of live-born infants with TS is attributed to high rates of spontaneous miscarriage in up to 15%, with only 1% of complete TS 45,XO surviving to term. Dec 1, 2020 · Sperm sex chromosomal aneuploidies have been associated with embryo aneuploidies compatible with life (e. May 21, 2025 · Examples of sex chromosome abnormalities include monosomy X or structural abnormalities of the X chromosome (such as isochromosome Xq); both anomalies cause Turner syndrome. Though very distressing, I doubt if the Turner syndrome pregnancy is very meaningful – this is tricky to decide but Turner syndrome is such an extremely common cause of miscarriage and it does not cause recurrent problems except in rather rare cases. It causes many traits and problems. [1] The condition later became known as Turner syndrome, also referred to as Ullrich-Turner syndrome. Methods: A retrospective study of 100 controlled ovarian stimulating cycles, 68 TS (sixty-four mosaic Turner syndrome (MTS) and four pure Turner syndrome (PTS)) women underwent PGT was conducted from 2013 to 2018. My doctor said while it likely caused the miscarriage it was probably an isolated event. Some individuals have chromosomal change only in | Find, read and cite all the research Mar 21, 2018 · MOSAIC TURNER SYNDROME PRESENTS W ITH RECURRENT MISCARRIAGE: A CASE REPORT KANDAUDA C1, KALAIMARAN P1, THARMINI D1 1 OBSTETRICS AND GYNECOLOGY- PROFESSORIAL UNIT, TEACHING HOSPITAL, PERADENIYA Apr 1, 2003 · She delivered a live boy weighing 3260 g (50th percentile) and measuring 48 cm (50 th percentile) with normal karyotype at term. . May 21, 2021 · The information on the genotype–phenotype relationship in Turner Syndrome (TS) is inadequate because very few specific candidate genes are linked to its clinical features. On our 9th anniversary we said goodbye to our daughter. Girls with Turner Syndrome are usually of normal intelligence with good verbal skills and reading skills. Phenotypes of mosaic TS and fertility outcomes may vary according to the degree of mosaicism. Based on the liveborn frequency of 45,X (also called Turner syndrome) of 1-2/10,000, it is estimated that less than 1% of 45,X conceptuses will survive to term. Oct 28, 2020 · Turner Syndrome is rare, and is the reason for our story of loss, of miscarriage. We aimed to investigate TS mosaicism and variants pattern and If I'm remembering correctly, Turner's is typically thought to be a fluke, and not something that most couples need genetic counseling for, but I could be wrong. 27-3). The TSSS is run by volunteers all closely involved with Turner Syndrome. Part of autosomal recessive syndroms: 25%. This is one woman’s very moving experience. May 21, 2021 · The causative factors of two common co-morbidities, Type 2 Diabetes Mellitus (T2DM) and Recurrent Miscarriages (RM), in the Turner population, are expected to be different from that of the general Dive into the research topics of 'Network-based analysis of key regulatory genes implicated in Type 2 Diabetes Mellitus and Recurrent Miscarriages in Turner Syndrome'. The information on the genotype–phenotype relationship in Turner Syndrome (TS) is inadequate because very few specific candidate genes are linked to its clinical features. A single X chromosome is the most common cause of miscarriage. Patients with Turner’s mosaicism, however, can reach normal average height. Curious if anyone has had similar results (or knows of friends//family who had this result) and can share if you learned other facts from your Síndrome de Turner Each case diagnosed has an individual history and different results … The patient was carried out in all the important stages of her growth and development. The diagnosis of mosaic Turner syndrome should be considered in women who have recurrent abortion. Monosomy X embryos usually consist of only an umbilical cord stump. Here, we discuss a pregnant woman with mosaic Turner syndrome with unaffected fertility but with a history of spontaneous pregnancies/miscarriages, with reference to the current literature. Prognosis: Fetal death: 90%. Congenital sex chromosome abnormalities occur in at least 1 in 448 births [1]. If a chromosome abnormality is suspected as a cause of a loss, it may be possible to confirm this, or rule it out, by checking the baby’s chromosomes from blood, skin or the placenta. Microarray datasets of (A) Turner Syndrome (B) Type 2 Diabetes Mellitus (C) Recurrent Miscarriage. Aug 1, 2007 · Ninety-nine percent of conceptuses with a 45,X karyotype abort spontaneously; Turner syndrome causes 10 percent of all first-trimester miscarriages. While 10-20% of pregnancies result in a single miscarriage, only about 1-2% of couples experience recurrent miscarriages. In cases with abnormal chromosomes, there may be a slightly increased risk of recurrence of the specific chromosomal abnormality. But even afte The purpose of this study is to explore the reproductive outcomes of women with Turner syndrome (TS) in preimplantation genetic testing (PGT) cycles. Turner syndrome (TS) was discovered in 1938 and defined as a chromosomal condition describing females* with common features, physical traits, and medical conditions caused by the complete or partial absence of the second sex chromosome. Jan 26, 2023 · Turner syndrome (TS), also known as monosomy X, is a chromosome abnormality that occurs randomly during fertilization and affects only females. Later in gestation, anomalies characteristic of Turner syndrome may be seen, such as cystic hygromas and generalized edema (Fig. There are several reproductive options available for women with Turner syndrome, including adoption or surrogacy, assisted reproductive techniques, and in rare cases spontaneous pregnancy. 3 Unlike with Down syndrome, maternal age does In most cases, Turner syndrome is a sporadic event, and for the parents of an individual with Turner syndrome the risk of recurrence is not increased for subsequent pregnancies. This girl would later be diagnosed with a genetic abnormality. Subsequently, the results from these two analyses were compared to evaluate But the commonest cause is following miscarriage. Abstract Introduction: Pregnancy in mosaic Turner Syndrome (TS) occurs relatively rarely. What are the most common chromosome abnormalities that cause miscarriage? Trisomy 16 The most common chromosomal abnormality is Trisomy 16 which occurs in 26% of losses. Cases detected prenatally often present with cystic hygroma, which is an ultrasound marker for aneuploidy generally, but Turner syndrome particularly. Turner syndrome typically occurs as a sporadic condition, and the recurrence risk is not associated with maternal age-related risk. The seriousness of these May 1, 1998 · In fact, Coulam [6] found a higher incidence of chromosome rearrangement in couples who had experienced both recurrent spontaneous abortion and viable pregnancies than in couples with recurrent Nov 13, 2025 · This article will help expectant parents understand Turner Syndrome (TS) and how it may impact their baby’s life before and after birth. We used the microarray data of TS to identify the key regulatory genes turner syndrome all true except a recurrent miscarriage b renal disease c from GENERAL SC 125885 at National College of Commerce & Computer Science Gilgit May 1, 2003 · Request PDF | A Spontaneous and Uneventful Pregnancy in a Turner Mosaic with Previous Recurrent Miscarriages | Conception without ovum donation is very rare in patients with Turner syndrome The 5 frequently encountered chromosomal anomalies (Trisomy 13, 18, 21, Turner syndrome and Triploidy) referred here as the 5T’s have specific hand features which will be discussed. The Society provides accurate and up-to-date information on Turner Syndrome and the many aspects of living with the condition on a daily basis. When that loss is tied to a specific diagnosis like Turner Syndrome, the grief can feel even more complex, tangled with questions and fears about the future. This was a retrospective cross-sectional study on women attending a hospital-based clinic for fertility concerns and/or recurrent miscarriage. Sep 5, 2018 · The characteristics of women with 45,X were consistent with the characteristics of a clinically recognized Turner syndrome phenotype, including short stature and primary amenorrhea. Purpose: The purpose of this study is to explore the reproductive outcomes of women with Turner syndrome (TS) in preimplantation genetic testing (PGT) cycles. Jun 10, 2015 · Abstract Background: Turner's syndrome (TS) is depicted as a total or partial absence of one X chromosome that results in ovarian dysgenesis. A small number of women with this disorder might be able to conceive. This page includes the following topics and synonyms: Turners Syndrome, Turners Syndrome, Turner Syndrome, Ovarian Dysgenesis, Ovarian Agenesis. Understanding these genetic causes is crucial for preventing future miscarriages and providing appropriate support to couples The information on the genotype–phenotype relationship in Turner Syndrome (TS) is inadequate because very few specific candidate genes are linked to its clinical features. Recently, assisted reproductive techniques have been used to prevent further miscarriages in women with recurrent miscarriage. I just got my tissue results from my d&c. (1) focuses on comparing preimplantation genetic testing for aneuploidy (PGT-A) and oocyte donation (OD) as alternative treatments in the clinical context of mosaic Turner syndrome. The causative factors of two common co-morbidities, Type 2 Diabetes Mellitus (T2DM) and Recurrent Miscarriage—Mosaic—Pregnancy— aged elsewhere, had been spontaneous but resulted Recurrent—Turner syndrome in first-trimester abortion, with no cause identified apart from a broad uterine fundus at hysterography. Keywords: Prenatal diagnosis, chromosomal anomalies, trisomy, triploidy, Turner syndrome, characteristic hands Trisomy 13 Mar 3, 2021 · Cytogenetic analysis of spontaneous miscarriages is essential to establish the aetiology of foetal losses and to assess patients at risk of recurrence in future pregnancies. 1999). Spontaneous pregnancies are very rare (2%) in women with Turner syndrome [1], and primarily occur when the syndrome is associated with an X anomaly Jul 11, 2025 · Turner syndrome (TS) is a sex chromosome disorder affecting phenotypic females who have one intact X chromosome and a completely or partially missing second sex chromosome. In 1938, Henri Turner, an Oklahoma physician, independently described similar features. Turner Syndrome is usually characterised by short stature and non-functioning ovaries which cause the absence of sexual development and infertility. I've had two miscarriages since my husband and I first started trying in May - the first was natural at 6 weeks after incredibly low HCG levels. (See "Genetics: Glossary of terms" and "Genomic disorders: An overview". Apr 16, 2025 · In the first trimester, the miscarriage rate for Turner syndrome pregnancies can be as high as 98-99%. All children with TS are at risk of ovarian insufficiency, a condition that is associated with lack of pubertal development and infertility. g. If you are pregnant or trying to become pregnant, consult Nov 6, 2022 · Turner syndrome (TS), a common chromosomal abnormality affecting females, is associated with partial or complete loss of the second sex chromosome. In this study, we report a case of mosaic Turner syndrome (45,X/46,XX) in Jun 22, 2025 · Otto Ullrich, a German pediatrician, presented the first case of an 8-year-old girl exhibiting the complete clinical picture of Turner syndrome in 1930. One hundred fifty-six TS patients, … MONOSOMY X MOSAICISM (MOSAIC TURNER SYNDROME) 45,X is a common cause of early pregnancy loss accounting for about 7% of spontaneous abortions. From Health Turner Syndrome is a random chromosomal disorder affecting only women and over two million of them. We wished to examine the fertility and pregnancy outcomes in women with TS undergoing oocyte donation (OD) treatment or spontaneous pregnancy in a large single-centre cohort. Trisomy 16 is incompatible with Turner syndrome (TS), also known as Congenital ovarian hypoplasia syndrome, occurs when the X chromosome is partially or completely missing in females. Examples of chromosome or genetic abnormalities are Downs Syndrome, Patau Syndrome, Edwards Syndrome and Turner Syndrome. Turner Syndrome Turner syndrome occurs in 1/2500 live births. A sex chromosome abnormality that involves the presence of one functional X chromosome and no other X or Y chromosome Abstract Turner syndrome (TS) is an abnormality of the X chromosome affecting females. It may be helpful to know that when survived, Turner Syndrome is a treatable condition. About 30% of Turners syndrome patients are mosaic with both a 45,X cell line and either a 46 15% of confirmed pregnancies that end in miscarriage are babies with Turner Syndrome You may be wondering where to go or what to do next, and the best advice is to let yourself feel your loss, turn to your loved ones for support, and release your emotions fully. A variety of signs, including short stature and frequent ear infections, should automatically signal the need for diagnostic testing to rule out the disorder or initiate Just received my results back from my D&C 6 weeks ago - the baby was a girl with monosomy X (Turner syndrome). Sep 1, 2010 · Turner syndrome is associated with monosomy X (45X and mosaic) in 50% of cases and with rearrangements of the short arms of chromosome X in the remaining 50%. Network‐based analysis of key regulatory genes implicated in Type 2 Diabetes Mellitus and Recurrent Miscarriages in Turner Syndrome Anam Farooqui1, Alaa Alhazmi2, Shafiul Haque3, Naaila Tamkeen4 EPII Mosaic Turner Syndrome With Recurrent Miscarriage: A Case Report That-mini, DI. Jul 1, 2020 · To study fertility issues and pregnancy outcomes in Turner syndrome (TS). It is caused by a partial or complete absence of one of the X chromosomes in a female. Abstract 1 in every 2500 females is born with Turner syndrome (TS), a result of chromosomal abnormalities of the X chromo-some. My doctor stressed that is is very unlikely to happen again, especially since Turner is nothing but bad luck. Apr 1, 2003 · Conclusion: The diagnosis of mosaic Turner syndrome should be considered in women who have recurrent abortion. Because this condition is both underrecognized and underreported, management in pregnant and postpartum patients is based on expert opinion without She delivered a live boy weighing 3260 g (50 (th) percentile) and measuring 48 cm (50 (th) percentile) with normal karyotype at term. In the rare event of a pregnancy, it usually leads to maternal and fetal complications, including miscarriage. Overall, they The article by Giles et al. While the risk of pregnancy loss in the second trimester is slightly lower than in the first, it remains a concern due to complications such as cardiovascular abnormalities, growth restriction, and fetal hydrops. They may also have other health problems, such as heart or kidney problems. We discuss the several types of TS, treatments, and frequently asked questions. Membership is not compulsory but offers further benefits and Turner Syndrome (Miscarriage Risk) 98% miscarriage risk Klinefelter Syndrome (XXY) (Features) I opted to get genetic testing on the fetus after my MMC at 9w, and we just got the call today confirming the miscarriage was due to Turner's Syndrome. In doing so, presumably for completeness of information, they also describe the outcome of OD cycles in patients presenting with pure (nonmosaic) Turner syndrome (PTS). Retrospective cohort study. Turner Syndrome Turner syndrome is a genetic condition that occurs in women, and is due to missing one copy of the X chromosome, designated as 45, X. Along with short stature, primary amenorrhoea is the cardinal sign of Turner syndrome. Read Doreen’s Prenatal Diagnosis Story Turner Syndrome (Monosomy X) in Children What is Turner syndrome (TS) in children? Turner syndrome (TS) is a genetic disorder that occurs in girls. In this study, we report a second trimester intrauterine fetal demise (IUFD), complicated by a marked cystic Oct 6, 2014 · Early pregnancy loss is defined as the termination of pregnancy before 20 weeks' gestation or with a fetal weight of below 500 g. 4 days ago · Experiencing more than one miscarriage is emotionally and physically devastating, and it’s completely normal to feel overwhelmed or fearful about trying again. Turner syndrome can affect the development of many different parts of the body, but this varies among affected children, adolescents, and young adults. The fetuses are often severely hydropic (Figure 1). Nov 9, 2019 · Two pairs of twin boys were delivered, and two further pregnancies started as twins: one resulted in a miscarriage and ectopic pregnancy, and the other resulted in a miscarriage of one twin and the birth of one healthy boy. In this post, she shares her story of loss, acceptance, and perseverance in coping with miscarriage. Turner syndrome is a chromosomal condition that affects development in females. This one was the opposite - high HCG, great heartbeat until my scan at 11 weeks showed that the heartbeat had stopped at 8 weeks. What is Turner Syndrome? Turner Syndrome affects approximately 1 in 2,500 live female births. Relationship Between Steroid Hormone Profile and Premenstrual Syndrome in Women Consulting for Infertility or Recurrent Miscarriage Joseph Turner, Lucas Mclindon, Damien Turner, Yolaine Alefsen, René Ecochard Abstract Background Turner syndrome (45,X), accounts for 1–2% of conceptions which typically miscarry early in the first trimester. A common symptom of this syndrome is infertility due to ovarian dysgenesis. This case report will detail a sponta-neous pregnancy in a 22-year-old female Gravida 1 Para 0 (G1P0) patient with mosaic Turner syndrome. We examined the relationship between fetal heart rate (FHR) before miscarriage in the early first trimester and fetal karyotype, analyzing 223 pregnant women with recur … Health Turner Syndrome is a random chromosomal disorder affecting only women and over two million of them. A geneticist may assist you in providing additional information. TS is a multi-system disorder with significant endocrine, cardiovascular and reproductive impacts. Turner syndrome occurs when a piece of genetic information (part or all of the X chromosome) gets “dropped” during a process called meiosis, when sex cells divide to form sperm in males, and eggs in females. Overall, 75% of affected women General information about positive NIPT results: Monosomy X (Turner syndrome) My patient’s NIPT is positive for monosomy X (Turner syndrome). yzgqan frsv vlili qemn tfj peoum obny hsohzu plix gunmb vibavgrr sumg aer tkvcav jwvaeni