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© 2008 by the American Institute of Ultrasound in Medicine
J Ultrasound Med 27:1033-1038 • 0278-4297

Sonographic Findings of Trisomy 18 in the Second Trimester of Pregnancy

William J. Watson, MD, Richard C. Miller, MD, Joseph R. Wax, MD, Wendy F. Hansen, MD, Yasuko Yamamura, MD and William J. Polzin, MD

Mayo Clinic College of Medicine, Rochester, Minnesota USA (W.J.W.); Saint Barnabas Medical Center, Livingston, New Jersey USA (R.C.M.); Maine Medical Center, Portland, Maine USA (J.R.W.); University of Kentucky, Lexington, Kentucky USA (W.F.H.); University of Minnesota, Minneapolis, Minnesota USA (Y.Y.); and Good Samaritan Medical Center, Cincinnati, Ohio USA (W.J.P.).

Address correspondence to William J. Watson, MD, Maternal-Fetal Medicine, Mayo Clinic College of Medicine, 200 First St SW, Charlton 3B, Rochester, MN 55905 USA. E-mail: watson.william{at}mayo.edu

Objective. The purpose of this study was to examine the sonographic findings in fetuses with trisomy 18 in the second trimester of pregnancy. Methods. A retrospective review of the cytogenetic laboratory databases at 6 tertiary referral centers identified all cases of trisomy 18. The prenatal sonographic studies in fetuses at 15 to 21 weeks’ gestation, done before invasive testing for the karyotype, were reviewed for anatomic and biometric findings. We defined abnormal fetal biometric findings as a biometric measurement (biparietal diameter, abdominal circumference, or femur length) below the fifth percentile in the second trimester. Results. Of 98 fetuses with trisomy 18, 95 (97%) were detected sonographically; an anomaly was found in 92 (94%). A biometric measurement below the fifth percentile was noted in 50 (51%). Cardiac (63%) and central nervous system (34%) anomalies were most frequently detected. Although choroid plexus cysts were commonly seen, no fetuses with trisomy 18 and isolated choroid plexus cysts were found. Conclusions. Targeted sonography identified abnormal fetal anatomy or abnormal biometric findings in 97% of fetuses with trisomy 18 in the second trimester. A biometric measurement below the fifth percentile was noted in half of the cases in the second trimester.

Key Words: prenatal diagnosis • sonography • trisomy 18

Abbreviations: AC, abdominal circumference • BPD, biparietal diameter • CNS, central nervous system • FL, femur length • IUGR, intrauterine growth restriction

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