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Journal of Ultrasound in Medicine, Vol 19, Issue 8 565-576, Copyright © 2000 by American Institute of Ultrasound in Medicine
Second trimester ultrasonography may identify 77 to 97% of fetuses with trisomy 18
G. R. DeVore
Fetal Diagnostic Center of Pasadena, California 91105, USA.
Between 1990 and 1999, 30 second trimester fetuses with trisomy 18 and 2000
control fetuses underwent real-time and color Doppler ultrasonographic
examination followed by genetic amniocentesis. Abnormal fetal anatomy was
present in 97% of fetuses with trisomy 18, with a false-positive rate of
15.7%. Logistic regression identified six markers (choroid plexus cysts,
central nervous system malformations, an abnormal nuchal skin fold,
ventricular septal defect, outflow tract abnormalities of the heart, and
right-to-left chamber disproportion of the heart) and one interaction
between markers (right-to-left chamber disproportion and outflow tract
abnormalities) to significantly contribute to the identification of 93% of
fetuses with trisomy 18, with a false-positive rate of 8.9%.
Noncardiovascular markers (choroid plexus cysts, central nervous system
malformations, and abnormal nuchal skin fold) identified 77% of fetuses
with trisomy 18, with a false-positive rate of 3.9%. Combining
right-to-left chamber disproportion of the heart with choroid plexus cysts,
central nervous system malformations, and nuchal skin folds identified 83%
of fetuses with trisomy 18, with a false-positive rate of 4.4%.
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