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Sonographic Findings in Trisomy 18

A Pictorial Essay

Glenn A. Rouse, MD

Department of Diagnostic Ultrasound, Loma Linda University Medical Center, Loma Linda, California

Marie de Lange, BS, RDMS, RDCS

Department of Diagnostic Ultrasound, Loma Linda University Medical Center, 11234 Anderson Street, Loma Linda, CA 92354

Trisomy 18 is the second most common trisomy syndrome. Sonographically, trisomy 18 syndrome can present with a wide range of fetal anomalies. The specific anomalies discussed in this report include choroid plexus cysts, agenesis of the corpus callosum, cleft lip, micrognathia, cystic hygroma, cardiac defects, diaphragmatic defects, omphalocele, spinal defects, and extremity defects. Knowledge of the abnormalities associated with trisomy 18 enhances the sonographer's ability to recognize this phenomenon when encountered.

Key Words: sonography • trisomy 18 • choroid plexus cysts • agenesis of the corpus callosum • craniofacial abnormalities • cystic hygroma • ventricular septal defect • diaphragmatic defects • omphalocele • meningomyelocele • scoliosis • radial agenesis • overlapping fingers

Journal of Diagnostic Medical Sonography, Vol. 7, No. 5, 255-263 (1991)
DOI: 10.1177/875647939100700503


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