The DOI matches its Crossref record; 52 of the 53 references it cites were found in a registry or an index.
Outcomes of spontaneous and assisted pregnancies in Turner syndrome: the U.S. National Institutes of Health experience
Open accessAbstract
Objective To assess fetal and maternal outcomes of pregnancies in women with Turner syndrome (TS).Design Retrospective case series.Setting Clinical research center.Patient(s) 276 adults with cytogenetically proven TS participating in an intramural natural history protocol.Intervention(s) None.Main outcome measure(s) Menstrual and obstetric histories, 50-cell karyotypes, and cardiovascular evaluation including aortic diameter measurements.Result(s) Our cohort included five women with spontaneous pregnancies and five with pregnancies using assisted reproduction (ART). All five women with spontaneous pregnancies had spontaneous puberty, despite 45,X in ≥90% of their 50-cell karyotype. Participants had a total of 13 pregnancies and 14 live births. One child had cerebral palsy; the others were chromosomally and developmentally normal. Delivery was by cesarean section in four out of seven spontaneous and six out of six ART-related pregnancies. One mother experienced preeclampsia in an ART-related twin pregnancy that required a preterm delivery; she has marked but stable aortic dilation years later.Conclusion(s) Approximately 2% of our study cohort experienced spontaneous pregnancies despite high-grade X monosomy, and a similar number achieved pregnancy via oocyte donation and ART. The potential for life-threatening cardiovascular complications warrants comprehensive screening before conception or single-embryo transfer, and caution regarding unintentional pregnancies for TS women.
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“Due to ovarian insufficiency, most individuals with TS are infertile, with spontaneous pregnancies occurring in about 10%.11,511,561-564”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [563]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
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“Reported anomalies include cerebral palsy, neuropsychological disorders, cleft lip and palate, coarctation of the aorta, ambiguous genitalia, hydrocephalus as well as trisomy 21.11,562,563”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [563]
Experimental — accuracy not yet measuredIn the citing paper
“The key predictive factors associated with the probability of spontaneous conception are a history of spontaneous menarche, and a 45,X/46,XX karyotype.11,511,561-563”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [563]
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Cites
Prevalence, incidence, diagnostic delay, and mortality in Turner syndrome
Stochholm, K., Juul, S., Juel, K., Naeraa, R. W., & Højbjerg Gravholt, C. (2006) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2006-0558 · Cited by 652
Rosenfeld, R. G. (1990) · Cited by 501
The anatomy and histology of XO human embryos and fetuses
Singh, R. P., & Carr, D. H. (1966) · The Anatomical Record · doi:10.1002/ar.1091550309 · Cited by 450
Spontaneous Pubertal Development in Turner's Syndrome
Pasquino, A. M., Passeri, F., Pucarelli, I., Segni, M., & Municchi, G. (1997) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.82.6.3970 · Cited by 386
Aortic Dilatation and Dissection in Turner Syndrome
Matura, L. A., Ho, V. B., Rosing, D. R., & Bondy, C. A. (2007) · Circulation · doi:10.1161/circulationaha.106.685487 · Cited by 366
Self-citationMajor Vascular Anomalies in Turner Syndrome: Prevalence and Magnetic Resonance Angiographic Features
Ho, V. B., Bakalov, V. K., Cooley, M., Van, P. L., Hood, M. N., Burklow, T. R., & Bondy, C. A. (2004) · Circulation · doi:10.1161/01.cir.0000142290.35842.b0 · Cited by 316
Self-citationMedical Management of Marfan Syndrome
Keane, M. G., & Pyeritz, R. E. (2008) · Circulation · doi:10.1161/circulationaha.107.693523 · Cited by 292
Coarctation of the aorta: outcome of pregnancy
Beauchesne, L., Connolly, H. M., Ammash, N. M., & Warnes, C. A. (2001) · Journal of the American College of Cardiology · doi:10.1016/s0735-1097(01)01617-5 · Cited by 285
Clinical and epidemiological description of aortic dissection in Turner's syndrome
Gravholt, C. H., Landin‐Wilhelmsen, K., Stochholm, K., Hjerrild, B., Ledet, T., Djurhuus, C., Sylvén, L., Baandrup, U. T., Kristensen, B. Ø., & Christiansen, J. S. (2006) · Cardiology in the Young · doi:10.1017/s1047951106000928 · Cited by 264
Pregnancies in women with Turner's syndrome
Hovatta, O. (1999) · Annals of Medicine · doi:10.3109/07853899908998785 · Cited by 251
Cited by
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ESHRE Guideline: management of women with premature ovarian insufficiency
The ESHRE Guideline Group on POI, Webber, L. J., Davies, M. C., Anderson, R. A., Bartlett, J., Braat, D. D. M., Cartwright, B., Cífková, R., Keizer‐Schrama, S. D. M., Hogervorst, E., et al. (2016) · Human Reproduction · doi:10.1093/humrep/dew027 · Cited by 1,603
Gravholt, C. H., Andersen, N. H., Conway, G. S., Dekkers, O. M., Geffner, M. E., Klein, K. O., Lin, A. E., Mauras, N., Quigley, C. A., Rubin, K., et al. (2017) · European Journal of Endocrinology · doi:10.1530/eje-17-0430 · Cited by 1,101
Spontaneous fertility and pregnancy outcomes amongst 480 women with Turner syndrome
Bernard, V., Donadille, B., Zenaty, D., Courtillot, C., Salenave, S., Brac de la Perrière, A., Albarel, F., Fèvre, A., Kerlan, V., Brue, T., et al. (2016) · Human Reproduction · doi:10.1093/humrep/dew012 · Cited by 266
Cardiovascular Health in Turner Syndrome: A Scientific Statement From the American Heart Association
Silberbach, M., Roos‐Hesselink, J. W., Andersen, N. H., Braverman, A. C., Brown, N. M., Collins, R. T., Backer, J. F. A. D., Eagle, K. A., Hiratzka, L. F., Johnson, W. H., et al. (2018) · Circulation Genomic and Precision Medicine · doi:10.1161/hcg.0000000000000048 · Cited by 250
Cardiovascular Phenotype in Turner Syndrome—Integrating Cardiology, Genetics, and Endocrinology
Mortensen, K. H., Andersen, N. H., & Gravholt, C. H. (2012) · Endocrine Reviews · doi:10.1210/er.2011-1059 · Cited by 221
Metadata
- Authors
- Hadnott, T. N., Gould, H. N., Gharib, A. M., & Bondy, C. A.
- Affiliations
- National Institutes of Health (US)
- Corresponding author
- Bondy, Carolyn A.
- ORCID
- Gharib, Ahmed M.
- Venue
- Fertility and Sterility
- Publisher
- Elsevier BV
- Published
- 2011-06
- Volume
- 95
- Issue
- 7
- Pages
- 2251-2256
- ISSN
- 0015-0282 (ISSN-L)
- PMC
- PMC3130000
- OpenAlex
- W2077165696
- Cited by
- 153
- References
- 53
- Citations by year
- 2026: 4 · 2025: 6 · 2024: 11 · 2023: 10 · 2022: 11 · 2021: 9 · 2020: 15 · 2019: 11 · 2018: 11 · 2017: 8 · 2016: 12 · 2015: 10 · 2014: 12 · 2013: 12 · 2012: 7
- FWCI
- 6.98
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Fertility and Sterility (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Howard Hughes Medical Institute
- National Institutes of Health
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (Z01HD000628)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Sexual Differentiation and Disorders
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Assisted Reproductive Technology and Twin Pregnancy
- Keywords
- Turner syndrome, pregnancy outcomes, assisted reproduction, oocyte donation, spontaneous conception, fetal outcomes, maternal outcomes, aortic dilatation, cardiovascular complications, monosomy X, spontaneous puberty, preeclampsia, preterm birth, twin pregnancy, single embryo transfer, preconception screening
- MeSH terms
- Adult, Aged, Analysis of Variance, Cerebral Palsy, Female, Fertility, Humans, Karyotyping, Middle Aged, Monosomy, National Institutes of Health (U.S.), Pregnancy, Pregnancy Complications, Cardiovascular, Puberty, Retrospective Studies, Risk Factors, Turner Syndrome, United States, Risk Assessment, Pregnancy Rate, Reproductive Techniques, Assisted, Chromosomes, Human, X, Live Birth, Young Adult
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