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© 2009 by the American Institute of Ultrasound in Medicine
J Ultrasound Med 28:39-42 • 0278-4297

Sonographic Findings in Trisomy 9

Wade D. Schwendemann, MD, Stephen A. Contag, MD, Joseph R. Wax, MD, Richard C. Miller, MD, William J. Polzin, MD, Patrick P. Koty, PhD and William J. Watson, MD

Department of Maternal-Fetal Medicine, Mayo Clinic College of Medicine, Rochester, Minnesota USA (W.D.S., W.J.W.); Wake Forest Medical Center, Winston-Salem, North Carolina USA (S.A.C., P.P.K.); Department of Maternal-Fetal Medicine, Maine Medical Center, Portland, Maine USA (J.R.W.); Department of Maternal-Fetal Medicine, St Barnabas Medical Center, Livingston, New Jersey USA (R.C.M.); and Department of Maternal-Fetal Medicine, Good Samaritan Hospital, Cincinnati, Ohio USA (W.J.P.).

Address correspondence to Wade D. Schwendemann, MD, Mayo Clinic College of Medicine, Charlton 3B, 200 First Street SW, Rochester MN 55905 USA., E-mail: schwendemann.wade{at}mayo.edu

Objective. The purpose of this study was to identify the most common prenatal sonographic findings in fetuses with complete trisomy 9. Methods. A retrospective review of all cases of trisomy 9 at 5 participating institutions over a 15-year interval was conducted. Indications for referral and sonographic findings in each case were reviewed to identify characteristic fetal structural anomalies. Results. Six cases of trisomy 9 are presented. Most patients were referred for abnormal sonographic findings on screening examinations (66%) or advanced maternal age (33%). Fetal heart defects and central nervous system malformations were the most frequent sonographic anomalies seen. Conclusions. Sonographic findings in trisomy 9 are similar to those found in other autosomal trisomies. Because trisomy 9 is uniformly lethal and is not included as part of the standard prenatal aneuploidy screening by fluorescence in situ hybridization analysis, clinicians should be cautious in counseling patients with structurally abnormal fetuses until the full karyotype is available.

Key Words: prenatal diagnosis • sonography • trisomy 9

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