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First-Trimester Sonographic Diagnosis of Holoprosencephaly

Value of the "Butterfly" Sign

Fetal Medicine Center, Department of Obstetrics and Gynecology (W.S., V.D.), and Cytogenetics Laboratory (C.B.), Clinica Las Condes, Santiago, Chile.

Address correspondence and reprint requests to Waldo Sepulveda, MD, Fetal Medicine Center, Clinica Las Condes, Casilla 208, Santiago 20, Chile. E-mail waldosep{at}hotmail.com.

Objective. 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. Methods. 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. Results. 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. Conclusions. 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 sonographic assessment of nuchal translucency provides a valuable tool for the early screening of holoprosencephaly.

Key Words: brain anomalies • choroid plexus • first trimester • holoprosencephaly • prenatal sonography

Abbreviations: CVS, chorionic villus sampling

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