Cited by 50Fetal and Pediatric Neurological DisordersPrenatal Screening and DiagnosticsSpinal Dysraphism and Malformations

First trimester screening for holoprosencephaly with choroid plexus morphology (‘butterfly’ sign) and biparietal diameter

Sepulveda, Waldo, Wong, Amy E.·2013·Prenatal Diagnosis

Abstract

Objective: The aim of this study was to determine whether choroid plexus morphology (‘butterfly’ sign) and biparietal diameter (BPD) are effective sonographic screening tools for holoprosencephaly (HPE) in the first trimester. Methods: An axial view of the fetal head was obtained routinely to determine the presence of the ‘butterfly’ sign in pregnancies presenting for sonographic screening at 11–13 weeks of gestation. The same view was also used to obtain BPD measurements. The definitive diagnosis of HPE was established by the sonographic demonstration of an anterior cerebral monoventricular cavity and thalamic fusion. Results: During a 9‐year study period, 11 068 live fetuses were screened. There were 11 cases of HPE (prevalence 1/1006); all of them were detected by demonstration of an absent ‘butterfly’ sign with no false‐positive cases. The BPD was less than the 5th percentile in 40% of the cases. Conclusions: The ‘butterfly’ sign appears to be a highly sensitive marker for HPE in the first trimester. On the other hand, BPD measurements had a lower sensitivity, implying that microcephaly is not a prominent first‐trimester feature in these cases. Incorporation of the ‘butterfly’ sign into the first trimester anatomy scan is simple and can facilitate the identification of the vast majority of fetuses with HPE in the first trimester. © 2013 John Wiley & Sons, Ltd.

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Crossref · 10.1002/pd.4235

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  • The butterfly sign has a sensitivity and specificity of 100% (95% CI: 71.3-100% and 99.9-100%, respectively) for detecting holoprosencephaly.

    “Careful assessment of the choroid plexus morphology should be undertaken, as the “butterfly sign” has a sensitivity and specificity of 100% (95% CI: 71.3–100% and 99.9–100%, respectively) for detecting holoprosencephaly [35].”

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Authors
Sepulveda, W., & Wong, A. E.
Affiliations
  • Fetal Medicine Center, Department of Obstetrics and Gynecology Clinica Las Condes Santiago Chile
  • Clínica Las Condes (CL)
Venue
Prenatal Diagnosis
Publisher
Wiley
Published
2013-10-04
Volume
33
Issue
13
Pages
1233-1237
ISSN
  • 0197-3851 (ISSN-L)
  • 1097-0223
OpenAlex
W1916065822
Cited by
49
References
26
Citations by year
2026: 3 · 2025: 4 · 2024: 5 · 2023: 5 · 2022: 6 · 2021: 1 · 2020: 5 · 2019: 3 · 2018: 2 · 2017: 3 · 2016: 1 · 2015: 4 · 2014: 4 · 2013: 3
FWCI
3.72
Type
journal article
Language
en
Open access
closed
Locations
  • Prenatal Diagnosis (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Fetal and Pediatric Neurological Disorders
  • Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Prenatal Screening and Diagnostics
  • Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Spinal Dysraphism and Malformations
Keywords
holoprosencephaly, biparietal diameter, first-trimester screening, prenatal ultrasound, microcephaly
MeSH terms
Adolescent, Adult, Body Weights and Measures, Chile, Choroid Plexus, Female, Head, Humans, Middle Aged, Parietal Lobe, Pregnancy, Pregnancy Trimester, First, Prevalence, Holoprosencephaly, Ultrasonography, Prenatal, Young Adult

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