Second trimester prenatal ultrasound for the detection of pregnancies at increased risk of Trisomy 18 based on serum screening

Objective To describe ultrasound findings in fetuses with Trisomy 18. Methods Prospective population-based cohort study of second trimester ultrasound among Californian women who were at increased risk of chromosome abnormality based on serum screening between November 1999 and April 2001. Structural anomalies plus the following soft markers were assessed: nuchal fold thickening, choroid plexus cyst (CPC), echogenic intracardiac focus, echogenic bowel, renal pyelectasis, clenched hands; clinodactyly; short femur, short humerus and a single umbilical artery (SUA). Results Overall, 8763 women underwent ultrasound evaluation, including 56 whose fetuses had Trisomy 18. Ultrasound anomalies were seen in 89% of Trisomy 18 fetuses, as compared with 14% of normal fetuses. If the genetic sonogram was normal (no structural anomaly and no soft marker), the risk was reduced by approximately 90%. The ultrasound soft markers were typically seen in conjunction with structural anomalies in affected fetuses and in the absence of a structural anomaly, most isolated ultrasound soft markers were not associated with Trisomy 18. The only exception was an isolated CPC, seen as the only finding in 11% of fetuses with Trisomy 18. Conclusions If the genetic sonogram is used as a sequential test following serum biochemistry, a normal ultrasound study reduces the likelihood of Trisomy 18 substantially even if a woman has abnormal serum biochemistry. The presence of an isolated CPC raises the risk, but not high enough to prompt invasive testing. Copyright © 2009 John Wiley & Sons, Ltd.