First-trimester sonographic diagnosis of holoprosencephaly: value of the "butterfly" sign

Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine
Waldo SepulvedaCecilia Be

Abstract

To study the value of choroid plexus dysmorphology as a screening tool for the first-trimester sonographic diagnosis of holoprosencephaly in a high-risk population. A total of 378 consecutive pregnancies undergoing chorionic villus sampling between 11 and 14 weeks' gestation were scanned before the procedure, following the recommendations of the Fetal Medicine Foundation (London, England). A cross-sectional view of the fetal brain, including the visualization of both choroid plexuses (the "butterfly" sign), was obtained in all cases. There were 3 cases in which the butterfly sign was not identified. In these cases, the first-trimester diagnosis of holoprosencephaly was confirmed by the presence of a single monoventricular cavity and fused thalami. Two of these fetuses had features of facial dysmorphism at the time of presentation and 2 had extracranial anomalies, including a cystic hygroma in 1 and a small omphalocele and polydactyly in another. Chromosomal analysis showed trisomy 13 in 2 cases and a ring chromosome 13 in the other. This series suggests that failure to identify the butterfly sign is a warning sign of holoprosencephaly in the first trimester. Systematic identification of the butterfly sign at the time of sonogra...Continue Reading

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International Journal of Gynaecology and Obstetrics : the Official Organ of the International Federation of Gynaecology and Obstetrics
T TongsongS Siriangkul
Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine
Waldo Sepulveda
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