Pregnancy outcomes of prenatally diagnosed Turner syndrome: a French multicenter retrospective study including a series of 975 cases
Abstract
OBJECTIVES: The objectives of this study were to report pregnancy outcomes after prenatal diagnosis of Turner syndrome (TS) and to compare and assess termination of pregnancy rates during two periods. The intervals selected were before and after 1997 when multidisciplinary centers for prenatal diagnosis (MCPDs) were established in France. METHODS: A database of 975 cases of TS diagnosed between 1980 and 2012 was created from 21 French cytogenetics laboratories. For each case, the karyotype indication, maternal age, year of prenatal testing, sampling procedure, karyotype, associated ultrasound findings, and outcomes were recorded. RESULTS: Karyotypes were mainly performed because of abnormal sonographic findings (84%). Before 1997, there were no changes in the rate of termination (90%) of affected fetuses. After 1997, the rate fell to 80%. This decrease was mainly observed in cases of mosaicism, incidental diagnosis, and in later gestations. US abnormalities were more likely to be associated with a full 45,X karyotype. CONCLUSION: There was an evolution in the way genetic counseling was performed following prenatal diagnosis of Turner syndrome that coincided with the opening of MCPDs in France. This resulted in a decrease in the rate of termination of affected fetuses.
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In countries where termination of pregnancy is allowed, rates of termination of pregnancy following prenatal diagnosis of TS vary between 15.4% and 100%.
“In countries where termination of pregnancy is allowed, rates of termination of pregnancy following prenatal diagnosis of TS vary between 15.4% and 100%.59,81,82”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [82]
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Clinical practice guidelines for the care of girls and women with Turner syndrome.
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- Authors
- Gruchy, N., Vialard, F., Blondeel, E., Le Meur, N., Joly‐Hélas, G., Chambon, P., Till, M., Herbaut‐Graux, M., Vigouroux‐Castera, A., Coussement, A., Lespinasse, J., Amblard, F., Jimenez, M., Lebel Roy Camille, L., Carré‐Pigeon, F., Flori, E., Mugneret, F., Jaillard, S., Yardin, C., Harbuz, R., Collonge Rame, M., Vago, P., Valduga, M., & Leporrier, N.
- Affiliations
- Centre Hospitalier Universitaire de Caen Normandie (FR)
- Centre Hospitalier Intercommunal de Poissy (FR)
- Etablissement Français du Sang Normandie Bois‐Guillaume Cedex France
- Centre Hospitalier Universitaire de Rouen (FR)
- Hospices Civils de Lyon (FR)
- Laboratoire Biolille Lille Cedex France
- Service de Génétique médicale CHU Purpan Toulouse Cedex 9 France
- Assistance Publique – Hôpitaux de Paris (FR)
- Service de Génétique Hôpital de Chambéry Chambéry Cedex France
- Centre Hospitalier Universitaire de Grenoble (FR)
- Service de Génétique UF Cytogénétique CHRU de Tours Tours Cedex 9 France
- Laboratoire de biologie médicale et cytogénétique Fort de France France
- Service de Génétique HMB CHU Reims Reims Cedex France
- Hôpital d'Hautepierre (FR)
- CHU Dijon Bourgogne (FR)
- Hôpital Pontchaillou (FR)
- Centre Hospitalier Universitaire de Limoges (FR)
- Centre Hospitalier Universitaire de Poitiers (FR)
- Service de génétique biologique, histologie, biologie du développement et de la reproduction CHRU Besançon, Hôpital Saint‐Jacques Besançon Cedex France
- Cytogénétique Médicale CHU Estaing Cytologie Histologie Embryologie Cytogénétique Clermont‐ferrand Cedex1 France
- Centre Hospitalier Régional et Universitaire de Nancy (FR)
- Corresponding author
- Gruchy, N.
- Venue
- Prenatal Diagnosis
- Publisher
- Wiley
- Published
- 2014-07-22
- Volume
- 34
- Issue
- 12
- Pages
- 1133-1138
- ISSN
- 0197-3851 (ISSN-L)
- 1097-0223
- OpenAlex
- W1956706131
- Cited by
- 29
- References
- 30
- Citations by year
- 2026: 2 · 2025: 3 · 2024: 1 · 2023: 3 · 2022: 1 · 2021: 7 · 2019: 2 · 2018: 2 · 2017: 2 · 2016: 3 · 2015: 2 · 2014: 1
- FWCI
- 2.51
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Prenatal Diagnosis (publishedVersion)
- PubMed (publishedVersion)
- HAL (submittedVersion)
- Topics
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Prenatal Screening and Diagnostics
- 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
- Keywords
- Turner syndrome, pregnancy outcomes, abortion, genetic counseling, 45,X karyotype, mosaicism, ultrasound abnormalities
- MeSH terms
- Abortion, Induced, Adult, Female, France, Genetic Counseling, Humans, Karyotyping, Pregnancy, Pregnancy Outcome, Retrospective Studies, Turner Syndrome, Nuchal Translucency Measurement
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