Prenatal sonographic findings of Down syndrome: review of 94 cases

Abstract

Prenatal ultrasound findings were reviewed in 94 consecutive fetuses with proved Down syndrome (trisomy 21) during a 6-year period at a single institution. One or more abnormalities were found in 31 fetuses (33%), including two of 11 fetuses seen before 14 weeks, 17 of 68 fetuses seen between 14-24 weeks, and 12 of 15 fetuses seen after 24 weeks. Major anomalies detected included cardiac defects (five), duodenal atresia (four), cystic hygromas (four), omphalocele (two), hydrops (two), and hydrothorax (one). Nuchal thickening was observed in five fetuses, including four of 25 second-trimester fetuses evaluated prospectively during the last 2 years of the study. Mild cerebral ventricular dilatation (three) and hyperechogenic bowel (five) are new findings that have not been generally associated with Down syndrome. A variety of prenatal sonographic abnormalities may be associated with Down syndrome, and the frequency of detecting most abnormalities increases with menstrual age. Anomalies more frequently detected before 20 weeks include cystic hygromas, nuchal thickening, and hyperechogenic bowel. Awareness of the sonographic findings associated with Down syndrome should result in improved detection of this disorder.