Radiology, Vol 193, 135-140, Copyright © 1994 by Radiological Society of North America

ARTICLES

Identification of second-trimester fetuses with autosomal trisomy by use of a sonographic scoring index

BR Benacerraf, A Nadel and B Bromley
Department of Obstetrics and Gynecology, Massachusetts General Hospital, Harvard Medical School, Boston.

PURPOSE: To evaluate the ability to identify fetuses with autosomal trisomy by use of sonographic features in the form of a scoring system. MATERIALS AND METHODS: The presence of nuchal thickening, long-bone shortness, pyelectasis, hyperechoic bowel, choroid plexus cyst, and major anatomic defects was prospectively evaluated in 60 trisomic fetuses aged 14-21 weeks and 106 second-trimester control fetuses. RESULTS: Forty-five fetuses had Down syndrome, 13 had trisomy 18, and two had trisomy 13. Based on previous criteria for short femur and humerus, pyelectasis, nuchal thickening, echogenic bowel, and choroid plexus cysts, a scoring system for detection of aneuploidy was developed. It enabled identification of 33 fetuses with Down syndrome (73%), 11 (85%) with trisomy 18, two (100%) with trisomy 13, and four control fetuses with abnormality (4%). The positive predictive value in patients in 1/250, 1/500, and 1/1,000 risk groups was 7.2%, 3.7%, and 1.9% for identification of a fetus with Down syndrome. CONCLUSION: These sonographic markers seem to be sensitive for the detection of chromosomal abnormalities.

This article has been cited by other articles:

				R. Bronsteen, W. Lee, I. M. Vettraino, R. Huang, and C. H. Comstock Second-Trimester Sonography and Trisomy 18: The Significance of Isolated Choroid Plexus Cysts After an Examination That Includes the Fetal Hands J. Ultrasound Med., February 1, 2004; 23(2): 241 - 245. [Abstract] [Full Text] [PDF]

				G. R. DeVore and R. Romero Genetic Sonography: An Option for Women of Advanced Maternal Age With Negative Triple-Marker Maternal Serum Screening Results J. Ultrasound Med., November 1, 2003; 22(11): 1191 - 1199. [Abstract] [Full Text] [PDF]

				B. Bromley, E. Lieberman, T. D. Shipp, and B. R. Benacerraf The Genetic Sonogram: A Method of Risk Assessment for Down Syndrome in the Second Trimester J. Ultrasound Med., October 1, 2002; 21(10): 1087 - 1096. [Abstract] [Full Text] [PDF]

				C. M. Kovac, J. A. Brown, C. C. Apodaca, P. G. Napolitano, B. Pierce, T. Patience, R. F. Hume Jr, and B. C. Calhoun Maternal Ethnicity and Variation of Fetal Femur Length Calculations When Screening for Down Syndrome J. Ultrasound Med., July 1, 2002; 21(7): 719 - 722. [Abstract] [Full Text] [PDF]

				B. T. PIERCE, E. G. HANCOCK, C. M. KOVAC, P. G. NAPOLITANO, R. F. HUME Jr, and B. C. CALHOUN Influence of Gestational Age and Maternal Height on Fetal Femur Length Calculations Obstet. Gynecol., May 1, 2001; 97(5): 742 - 746. [Abstract] [Full Text] [PDF]

				R. Smith-Bindman, W. Hosmer, V. A. Feldstein, J. J. Deeks, and J. D. Goldberg Second-Trimester Ultrasound to Detect Fetuses With Down Syndrome: A Meta-analysis JAMA, February 28, 2001; 285(8): 1044 - 1055. [Abstract] [Full Text] [PDF]

				T. C. Winter, S. B. Uhrich, V. L. Souter, and D. A. Nyberg The "Genetic Sonogram": Comparison of the Index Scoring System with the Age-adjusted US Risk Assessment Radiology, June 1, 2000; 215(3): 775 - 782. [Abstract] [Full Text]

				P. D. Zook, T. C. Winter III, and D. A. Nyberg Iliac Angle as a Marker for Down Syndrome in Second-Trimester Fetuses: CT Measurement Radiology, May 1, 1999; 211(2): 447 - 451. [Abstract] [Full Text]