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Journal of Ultrasound in Medicine, Vol 11, Issue 9 449-458, Copyright © 1992 by American Institute of Ultrasound in Medicine
Sonographic scoring index for prenatal detection of chromosomal abnormalities
B. R. Benacerraf, D. Neuberg, B. Bromley and F. D. Frigoletto Jr
Department of Obstetrics & Gynecology, Brigham & Women's Hospital, Boston, Massachusetts.
Current indications for cytogenetic evaluation leave the majority of Down
syndrome fetuses undetected. Using advanced maternal age and low maternal
serum alpha-fetoprotein (AFP) levels as criteria, only 40% of fetuses with
Down syndrome (trisomy 21) are identified (positive predictive value, 0.4%
to 1%). We evaluate the sonographically detectable physical features of
second trimester fetuses to determine whether these features are more
sensitive and specific than maternal age for detecting fetuses with
abnormal karyotypes. From March 1, 1990, to September 1, 1991, more than
5,000 fetuses between 14 and 20 weeks of development were referred for
genetic amniocentesis because of advanced maternal age or abnormal AFP
levels. Forty-three of these 5,000 fetuses were later found to have
autosomal trisomies by karyotype (32 with trisomy 21, nine with trisomy 18,
and two with trisomy 13). A sample of 588 consecutive normal fetuses from
the total of more than 5,000 amniocenteses performed during this period of
time was used as our control group for statistical analysis. The
sonographic features of these 588 normal second trimester fetuses and the
43 trisomic fetuses recorded prospectively prior to knowledge of the
karyotype were evaluated statistically. The femur and humerus lengths,
nuchal fold, renal pelvic dimension, and major structural defects were
compared in the normal and trisomic fetuses. On the basis of our results, a
weighted sonographic score was developed to optimize the detection of
fetuses at risk for aneuploidy. Using our previously published formulas and
criteria for a short femur and humerus, 17/32 (53%) fetuses with Down
syndrome and 23/588 (3.9%) of the normal fetuses were identified. Twenty
two of 32 Down syndrome fetuses (69%) and 2/588 (0.34%) of normals had a
nuchal fold > or = 6 mm, and 11 of 32 Down syndrome fetuses and all
those with trisomies 18 and 13 had a major anomaly detected
sonographically. The following scoring system was developed for the
detection of aneuploidy: nuchal fold = 2, major structural defect = 2, and
short femur, short humerus, and pyelectasis = 1 each. Selecting fetuses
with a score of > or = 2 would identify 26/32 (81%) Down syndrome
fetuses, and 9/9 (100%) and 2/2 (100%) fetuses with trisomies 18 and 13
respectively, but only 26/588 (4.4%) of the normal fetuses. Using the
sonographic score of 2 results in a positive predictive value for a 1/250
risk group of 6.87% for identifying Down syndrome fetuses and 7.25% for all
three trisomies.(ABSTRACT TRUNCATED AT 400 WORDS)
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