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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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“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
“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]
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“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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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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