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Cited by 106Prenatal Screening and DiagnosticsCongenital Heart Disease StudiesGenetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Turner's syndrome in fetal life

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Surerus, E., Huggon, I. C., Allan, L. D.·2003·Ultrasound in Obstetrics & Gynecology
DOI 10.1002/uog.151
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Abstract

OBJECTIVE: To compare the incidence and type of heart disease found in association with 45X karyotype in fetal life with postnatal life and to examine the outcome after fetal diagnosis. METHODS: Fifty-three fetuses with a 45X karyotype were examined echocardiographically over a 4-year period between 1999 and 2002. Of these, 47 were referred because of increased nuchal translucency (NT). RESULTS: A cardiac abnormality was detected in 33/53 (62.2%) fetuses. The most common diagnosis was coarctation of the aorta in 24/53 (45.3%) fetuses, followed by the hypoplastic left heart syndrome (HLHS) in 7/53 (13.2%) fetuses. The mean NT was significantly higher in fetuses with a heart defect than in those with normal echocardiography. Termination of pregnancy was carried out in 45/53 (84.9%) fetuses and intrauterine death occurred in six cases. Two of four fetuses with a mosaic karyotype are currently alive. CONCLUSION: Turner's syndrome is associated with a higher incidence of heart defects detected prenatally when compared to postnatal reports. The commonest associated heart defects detected prenatally are HLHS and coarctation of the aorta, in contrast to postnatal life where a bicuspid aortic valve is the most common diagnosis. The typical intrauterine presentation of Turner's syndrome with a markedly increased NT or with hydrops and with a typical 45X karyotype has an extremely poor prognosis for intrauterine survival.

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  • In the first trimester, markedly increased nuchal translucency is common in fetuses with TS, but is also observed in other genetic conditions, especially chromosome abnormality syndromes and RASopathies, or with fetal structural anomalies.

    “In the first trimester, markedly increased nuchal translucency (especially in cases of associated cardiac anomalies) is common in fetuses with TS, but is also observed in other genetic conditions, especially chromosome abnormality syndromes and RASopathies, or with fetal structural anomalies.46-50”

    From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [50]

  • 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 [50]

  • 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 [50]

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Research works printed but not linked: 2

  1. Monney C, Pescia G, Addor M-C. Le syndrome de Turner. Schweiz Med Wochenschr 2000; 130: 1339-1343.
  2. Copyright  2003 ISUOG. Published by John Wiley & Sons, Ltd. Ultrasound Obstet Gynecol 2003; 22: 264-267. 14690705, 2003, 3, Downloaded from https://obgyn.onlinelibrary.wiley.com/doi/10.1002/uog.151 by Mount Vernon Nazarene University, Wiley Online Library on [29/04/2025]. See the Terms and Conditions (https://onlinelibrary.wiley.com/terms-and-conditions) on Wiley Online Library for rules of use; OA articles are governed by the applicable Creative Commons License · DOI

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Authors
Surerus, E., Huggon, I. C., & Allan, L. D.
Affiliations
King's College London (GB)
Corresponding author
Allan, L. D.
ORCID
Allan, L. D.
Venue
Ultrasound in Obstetrics & Gynecology
Publisher
Wiley
Published
2003-08-13
Volume
22
Issue
3
Pages
264-267
ISSN
  • 0960-7692 (ISSN-L)
  • 1469-0705
DOI
10.1002/uog.151
OpenAlex
W1980380388
Cited by
106
References
22
Citations by year
2026: 4 · 2025: 7 · 2024: 5 · 2023: 2 · 2022: 6 · 2021: 5 · 2020: 1 · 2018: 6 · 2017: 4 · 2016: 6 · 2015: 5 · 2014: 11 · 2013: 4 · 2012: 3
FWCI
3.57
Type
journal article
Language
en
Open access
Licence
onlinelibrary.wiley.com/termsAndConditions#vor (vor)
Locations
  • Ultrasound in Obstetrics and Gynecology (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Prenatal Screening and Diagnostics
  • Health Sciences › Medicine › Epidemiology › Congenital Heart Disease Studies
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Keywords
Turner syndrome, 45,X karyotype, fetal cardiac anomalies, coarctation of the aorta, hypoplastic left heart syndrome, bicuspid aortic valve, increased nuchal translucency, prenatal diagnosis, abortion, intrauterine fetal death, fetal prognosis
MeSH terms
Aortic Coarctation, Female, Gestational Age, Heart Defects, Congenital, Humans, Karyotyping, Mosaicism, Pregnancy, Pregnancy Outcome, Retrospective Studies, Turner Syndrome, Ultrasonography, Prenatal, Hypoplastic Left Heart Syndrome

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