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Journal of Ultrasound in Medicine, Vol 20, Issue 6 655-674, Copyright © 2001 by American Institute of Ultrasound in Medicine
Sonographic markers of fetal trisomies: second trimester
D. A. Nyberg and V. L. Souter
Center for Perinatal Studies, and Department of Radiology, University of Washington Medical Center, Seattle, USA.
OBJECTIVE: Second-trimester sonographic findings of fetal trisomy may
include structural abnormalities or sonographic markers of fetal
aneuploidy. Unlike structural anomalies, sonographic markers of fetal
aneuploidy are insignificant by themselves with regard to outcome, are
nonspecific--most frequently seen in normal fetuses, and are often
transient. Our objective was to review the second-trimester sonographic
findings of the major trisomic conditions, trisomies 13, 18, and 21.
METHODS: We reviewed a number of the most commonly accepted markers,
including nuchal thickening, hyperechoic bowel, echogenic intracardiac
focus, renal pyelectasis, shortened extremities, mild cerebral ventricular
dilatation, and choroid plexus cysts. Markers associated with trisomy 21
were emphasized. RESULTS: The sensitivity of sonography for detection of
fetal trisomic conditions varies with the type of chromosome abnormality,
gestational age at the time of sonography, reasons for referral, criteria
for positive sonographic findings, and the quality of the sonography. As an
estimate, 1 or more sonographic findings can be identified in approximately
90% of fetuses with trisomy 13, 80% of fetuses with trisomy 18, and 50% to
70% of fetuses with trisomy 21 (Down syndrome). CONCLUSIONS: The presence
or absence of sonographic markers can substantially modify the risk of
fetal Down syndrome and is the basis of the so-called genetic sonogram.
Because maternal biochemical and sonographic markers are largely
independent, combined risk estimates will result in even higher detection
rates than either alone.
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