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Cited by 82Prenatal Screening and DiagnosticsGenetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesFetal and Pediatric Neurological Disorders

A characteristic cluster of fetal sonographic markers that are predictive of fetal Turner syndrome in early pregnancy

Bronshtein, Moshe, Zimmer, Etan Z., Blazer, Shraga·2003·American Journal of Obstetrics and Gynecology
DOI 10.1067/mob.2003.230
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Abstract

Objective The purpose of this study was to describe a characteristic cluster of sonographic features of fetuses with Turner syndrome in early pregnancy.Study design A targeted transvaginal ultrasound examination of all fetal organs was performed for 40123 consecutive pregnant women at 14 to 16 weeks of gestation. Both low- and high-risk pregnancies were included. Fetal karyotyping was performed in 9348 cases. The main indications were major fetal anomalies, advanced maternal age, abnormal biochemical markers, maternal anxiety, and request.Results Turner syndrome was detected in 13 fetuses (0.03%, 1/3086 early pregnancies). Huge septated cystic hygroma, severe subcutaneous edema, and hydrops were observed in all cases. A short femur was detected in 12 of 13 fetuses. A narrow aortic arch was visualized in all 8 fetuses who were scanned after 1995, when scanning of the aortic arch became mandatory in our institution. Four other fetuses had three or four of the five markers, 2 of the fetuses had trisomy 21, 1 fetus was normal, and one case of missed abortion occurred without a karyotype.Conclusion A reliable diagnosis of Turner syndrome by sonographic means is possible in early pregnancy.

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Crossref · 10.1067/mob.2003.230

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  • 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 [45]

  • Abnormalities in fetuses with TS can be present already in the first trimester and may regress with advancing gestational age.

    “Abnormalities can be present already in the first trimester and may regress with advancing gestational age.45”

    From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [45]

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Authors
Bronshtein, M., Zimmer, E. Z., & Blazer, S.
Affiliations
Technion – Israel Institute of Technology (IL)
Venue
American Journal of Obstetrics and Gynecology
Publisher
Elsevier BV
Published
2003-04
Volume
188
Issue
4
Pages
1016-1020
ISSN
0002-9378 (ISSN-L)
DOI
10.1067/mob.2003.230
OpenAlex
W2059658495
Cited by
82
References
23
Citations by year
2026: 4 · 2025: 3 · 2024: 10 · 2023: 2 · 2022: 3 · 2020: 4 · 2019: 4 · 2018: 4 · 2017: 4 · 2016: 4 · 2015: 2 · 2014: 1 · 2013: 3 · 2012: 2
FWCI
4.96
Type
journal article
Language
en
Open access
closed
Licence
www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations
  • American Journal of Obstetrics and Gynecology (publishedVersion)
  • PubMed (publishedVersion)
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
  • Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Fetal and Pediatric Neurological Disorders
Keywords
Turner syndrome, early pregnancy, transvaginal ultrasound, cystic lymphangioma, subcutaneous edema, hydrops fetalis, short femur, aortic arch, prenatal diagnosis, Down syndrome, fetal karyotyping
MeSH terms
Abortion, Induced, Aorta, Thoracic, Edema, Female, Humans, Karyotyping, Mosaicism, Predictive Value of Tests, Pregnancy, Pregnancy Trimester, First, Skin Diseases, Turner Syndrome, Ultrasonography, Prenatal, Lymphangioma, Cystic

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