Fertility issues and pregnancy outcomes in Turner syndrome
Open accessAbstract
Objective To study fertility issues and pregnancy outcomes in Turner syndrome (TS).Design Retrospective cohort study.Setting Not applicable.Patient(s) One hundred fifty-six TS patients, median age 32 years, 23 mosaic 45,X/46,XX, 45,X/47,XXX, 45,X/46,XX/47,XXX.Intervention(s) None.Main outcome measure(s) Fertility choices, spontaneous pregnancy, and oocyte donation (OD) outcomes. Conditions associated with aortic dissection and poor pregnancy outcomes at preconception were considered. Pregnancy-related aortic dimension changes and the long-term impact of pregnancy on TS-related comorbidities were assessed.Results(s) In all, 13.5% had spontaneous pregnancies, resulting in a pregnancy with live birth in 18 patients (37 newborns); 16% considered OD, one adopted, and one underwent fertility preservation. Spontaneous pregnancy predictive factors were a karyotype with a second or third cell line with more than one X and spontaneous menarche. In all, 47.6% had miscarriages, two experienced preeclampsia, and two had gestational diabetes. One daughter was diagnosed with TS in adulthood. Seven of 14 who attempted OD had a pregnancy with live birth; two of seven had gestational diabetes; 64.3% attempting OD had risk factors associated with poor pregnancy outcomes, including four who had double embryo transfer. Cardiac status at preconception was evaluated in 12 of 25 women who had a pregnancy. The aortic diameters during pregnancy increased. The aortic growth at sinuses was 0.51 ± 0.71 mm/year and at ascending aorta 0.67 ± 0.67 mm/year, reaching a significant difference at sinuses compared with the growth in nulliparous TS. Among women who had a pregnancy, none experienced aortic dissection during and in the years after pregnancy.Conclusion(s) This study highlights the importance of a TS-dedicated multidisciplinary management of pregnancy, before and during pregnancy and in the postpartum period.
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Initial estimates of maternal deaths due to aortic dissections during pregnancy were much higher than in more recent studies, probably because pre-pregnancy cardiac evaluations were performed less frequently in older cohorts.
“Initial estimates of maternal deaths due to aortic dissections during pregnancy were much higher than in more recent studies, probably because pre-pregnancy cardiac evaluations were performed less frequently in older cohorts.510-513”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [511]
Several studies have shown that aortic dimensions do not change significantly during pregnancy.
“Several studies have shown that aortic dimensions do not change significantly during pregnancy.511,512”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [511]
Due to ovarian insufficiency, most individuals with TS are infertile, with spontaneous pregnancies occurring in about 10%.
“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 [511]
Following spontaneous conception, miscarriages are more frequent in individuals with TS compared with the background population: 29%-48% versus 15%.
“Following spontaneous conception, miscarriages are more frequent in individuals with TS compared with the background population: 29%-48% versus 15%.11,511,561,584,585”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [511]
Pregnancies in individuals with TS are associated with a higher risk of maternal and fetal complications, as are pregnancies after oocyte donation in both TS and non-TS individuals.
“Pregnancies in individuals with TS are associated with a higher risk of maternal and fetal complications as are pregnancies after oocyte donation in both TS and non-TS individuals.511,524,586”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [511]
The key predictive factors associated with the probability of spontaneous conception are a history of spontaneous menarche and a 45,X/46,XX karyotype.
“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 [511]
Data are inconsistent regarding the risk of birth anomalies, which are reported in 0%-24% of spontaneous TS pregnancies compared with ∼3% in the background population.
“Data are inconsistent regarding the risk of birth anomalies, which are reported in 0%-24% of spontaneous TS pregnancies compared with ∼3% in the background population.11,511,561,562,584,589”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [511]
The risk of developing preeclampsia is 6.3%-11% in TS vs. 3% in the general population.
“The risk of developing preeclampsia is 6.3%-11% in TS vs. 3% in the general population.511,561,589”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [511]
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- Authors
- Calanchini, M., Aye, C. Y. L., Orchard, E., Baker, K., Child, T., Fabbri, A., Mackillop, L., & Turner, H. E.
- Affiliations
- University of Rome Tor Vergata (IT)
- University of Oxford (GB)
- Oxford University Hospitals NHS Trust (GB)
- Oxford Fertility (GB)
- Oxford Centre for Diabetes, Endocrinology and Metabolism (GB)
- Corresponding author
- Calanchini, Matilde
- ORCID
- Venue
- Fertility and Sterility
- Publisher
- Elsevier BV
- Published
- 2020-07
- Volume
- 114
- Issue
- 1
- Pages
- 144-154
- ISSN
- 0015-0282 (ISSN-L)
- OpenAlex
- W3038910913
- Cited by
- 68
- References
- 52
- Citations by year
- 2026: 6 · 2025: 15 · 2024: 22 · 2023: 11 · 2022: 9 · 2021: 4 · 2020: 1
- FWCI
- 3.67
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Fertility and Sterility (publishedVersion)
- PubMed (publishedVersion)
- Cineca Institutional Research Information System (Tor Vergata University) (submittedVersion)
- Funders
- Department of Systems Medicine
- Endocrinology and Metabolism Unit
- University of Rome Tor Vergata
- Oxford Biomedical Research Centre
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiovascular Issues in Pregnancy
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Keywords
- Turner syndrome, fertility, pregnancy outcomes, oocyte donation, spontaneous conception, miscarriage, aortic dissection, mosaic Turner syndrome, preconception care, gestational diabetes mellitus, preeclampsia, fertility preservation
- MeSH terms
- Adolescent, Adult, Female, Fertility, Humans, Infertility, Female, Pregnancy, Pregnancy Outcome, Retrospective Studies, Risk Factors, Turner Syndrome, Comorbidity, Treatment Outcome, Risk Assessment, Reproductive Techniques, Assisted, Live Birth, Young Adult
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