Fertility and pregnancy outcome in Danish women with Turner syndrome
Abstract
The aim of the investigation was to study fertility in Danish women diagnosed with Turner syndrome (TS), and to describe their offspring. In total, 410 women in the fertile age were registered in the Danish Cytogenetic Central Register with TS between January 1973 and December 1993. Their karyotype were as follows: 49% with 45,X, 23% with mosaicism and a structural abnormality of the second X, 19% with 45,X/46,XX mosaicism, and 9% with 46,XX and a structural abnormality of the second X. Thirty-three women, one with 45,X, 27 with mosaicism and 5 with 46,XX and a structural abnormality of the second X, gave birth to 64 children. Two women had become pregnant after in vitro fertilization, including a woman with 45,X after an egg donation. Thus, 31 women(7.6%) had achieved at least one spontaneous pregnancy, but 48% of the fertile women registered with 45,X/46,XX had 45,X in less than 10% of the analysed cells. Twenty-five of the 64 children had a chromosome analyzed. Six of the 25 examined children, including three siblings, had chromosomal aberrations. No case of Down's syndrome was present, and only two children had malformations. Fertility in women registered with TS is higher than earlier reported. However, only women with 45,X/46,XX mosaicism or 46,XX and structural abnormality of the second X, gave birth to live children after spontaneous pregnancies.
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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 [562]
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 [562]
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 [562]
Reported anomalies in TS pregnancies include cerebral palsy, neuropsychological disorders, cleft lip and palate, coarctation of the aorta, ambiguous genitalia, hydrocephalus, and trisomy 21.
“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 [562]
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Chromosome Instability Syndromes
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Beeinflusst die IVF-Gesetzgebung unser ärztliches Handeln?
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- Authors
- Birkebaek, N., Crüger, D., Hansen, J., Nielsen, J., & Bruun‐Petersen, G.
- Affiliations
- Vejle Sygehus (DK)
- ORCID
- Nielsen, J
- Venue
- Clinical Genetics
- Publisher
- Wiley
- Published
- 2002-01
- Volume
- 61
- Issue
- 1
- Pages
- 35-39
- ISSN
- 0009-9163 (ISSN-L)
- 1399-0004
- OpenAlex
- W2144444063
- Cited by
- 204
- References
- 20
- Citations by year
- 2026: 5 · 2025: 2 · 2024: 5 · 2023: 6 · 2022: 7 · 2021: 7 · 2020: 12 · 2019: 11 · 2018: 40 · 2017: 4 · 2016: 4 · 2015: 4 · 2014: 2 · 2013: 5 · 2012: 3
- FWCI
- 2.47
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Clinical Genetics (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Reproductive Biology and Fertility
- Keywords
- Turner syndrome, female fertility, pregnancy outcomes, 45,X/46,XX mosaicism, 45,X, spontaneous conception, Down syndrome, malformations, in vitro fertilization, oocyte donation
- MeSH terms
- Adolescent, Adult, Chromosome Aberrations, Denmark, Female, Fertility, Humans, Middle Aged, Pregnancy, Pregnancy Complications, Pregnancy Outcome, Turner Syndrome
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