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Cited by 160Prenatal Screening and DiagnosticsGenetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesSexual Differentiation and Disorders

Turner syndrome: evaluation of prenatal diagnosis in 19 European registries

Baena, Neus, De Vigan, C., Cariati, E., Clementi, M., Stoll, C., Caballín, M.R., Guitart, M., The Euroscan working group·2004·American Journal of Medical Genetics Part A
DOI 10.1002/ajmg.a.30092
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Abstract

This study evaluated the prenatal diagnosis of Turner syndrome by ultrasound examination in an unselected population from all over Europe. Data from 19 congenital malformation registries from 11 European countries were analyzed. Turner syndrome was diagnosed in 125 cases (7.2%) in a total of 1,738 chromosome abnormalities. Sixty-seven percent of cases were detected prenatally by ultrasound examination due to the presence of congenital defects. The most frequent anomalies were cystic hygroma (59.5%) and hydrops fetalis (19%). The most frequent karyotype was 45,X (81.6%) followed by different types of mosaicism (16.8%). Significant differences in congenital defects (P = 0.0003) were observed between 45,X karyotypes and 45,X mosaicism cases. Prenatal counseling for 45,X mosaicism should take into account the expectation of a milder phenotype. In 78.6% of cases diagnosed by ultrasound examination due to congenital anomalies, the pregnancy was terminated. Prenatal detection of Turner syndrome by ultrasound examination was high in this unselected population.

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Crossref · 10.1002/ajmg.a.30092

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35 of 35 references verified0 citation errors · 0 not checkable

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  • Depending on fetal TS karyotype, cardiac anomalies are described in 7.8%-72% of prenatal series.

    “Depending on fetal TS karyotype, cardiac anomalies are described in 7.8%-72% of prenatal series.50-53”

    From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [53]

  • Other ultrasound findings suggestive of TS include left-sided cardiac anomalies, partial anomalous pulmonary venous return/connection and persistent left superior vena cava, renal anomalies, small omphalocele, short femur and fetal growth restriction.

    “Other ultrasound findings suggestive of TS include left-sided cardiac anomalies, partial anomalous pulmonary venous return/connection and persistent left superior vena cava, renal anomalies, small omphalocele, short femur and fetal growth restriction.45,50-54”

    From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [53]

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Authors
Baena, N., De Vigan, C., Cariati, E., Clementi, M., Stoll, C., Caballín, M. R., Guitart, M., & The Euroscan working group
Affiliations
  • Universitat Autònoma de Barcelona (ES)
  • Hôpital d'Hautepierre (FR)
Corresponding author
Baena, Neus
ORCID
Venue
American Journal of Medical Genetics Part A
Publisher
Wiley
Published
2004-07-15
Volume
129A
Issue
1
Pages
16-20
ISSN
  • 1552-4825 (ISSN-L)
  • 1552-4833
DOI
10.1002/ajmg.a.30092
OpenAlex
W2071216215
Cited by
160
References
35
Citations by year
2026: 1 · 2025: 3 · 2024: 5 · 2023: 3 · 2022: 4 · 2021: 5 · 2020: 4 · 2019: 2 · 2018: 37 · 2017: 3 · 2015: 5 · 2014: 5 · 2013: 3 · 2012: 3
FWCI
5.30
Type
journal article
Language
en
Open access
closed
Licence
onlinelibrary.wiley.com/termsAndConditions#vor (vor)
Locations
  • American Journal of Medical Genetics Part A (publishedVersion)
  • PubMed (publishedVersion)
  • IRIS (submittedVersion)
  • University of Groningen research database (University of Groningen / Centre for Information Technology) (submittedVersion)
  • SERVAL (Université de Lausanne) (submittedVersion)
  • Padua Research Archive (University of Padova) (submittedVersion)
Funders
  • European Union BIOMED2 Concerted Action (CEE BMH4 CT 96-0539)
  • Fondo de Investigaciones Sanitarias (98/1525)
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, prenatal diagnosis, prenatal ultrasound, 45,X karyotype, cystic lymphangioma, hydrops fetalis, congenital malformations, prenatal termination, prenatal counseling
MeSH terms
Congenital Abnormalities, Adolescent, Adult, Europe, Female, Gestational Age, Humans, Karyotyping, Maternal Age, Pregnancy, Registries, Sensitivity and Specificity, Turner Syndrome, Ultrasonography, Prenatal

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