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Journal of Ultrasound in Medicine, Vol 17, Issue 5 327-331, Copyright © 1998 by American Institute of Ultrasound in Medicine
Ultrasonographic diagnosis of trisomy 18: is it practical in the early second trimester?
L. E. Shields, L. A. Carpenter, K. M. Smith and H. V. Nghiem
Department of Obstetrics and Gynecology, University of Washington School of Medicine, Seattle 98195, USA.
The objective of this paper was to determine the rate of prenatal detection
of ultrasonographic abnormalities in fetuses with trisomy 18 during the
early second trimester. Our prenatal diagnosis database (encompassing
January 1987 to June 1996) was searched for all patients referred for
prenatal genetic evaluation between 14 and 22 weeks of gestation and who
were found to have a fetus with a trisomy 18 karyotype. The sonographic
reports and films were evaluated for the presence or absence of fetal
anatomic abnormalities. Thirty-five fetuses were identified with a mean age
of 17.3+/-2.0 (standard deviation) weeks. Thirty of the 35 (86%) had at
least one detected abnormality. Most fetuses had more than one abnormality,
with the mean number of abnormalities per fetus being three (range, 0 to
6). The most common abnormalities noted were persistent abnormal position
of fetal fingers (89%); choroid plexus cysts (43%); abnormally shaped fetal
head (strawberry or lemon) (43%); two-vessel umbilical cord (40%); cardiac
defects (37%); intrauterine growth restriction (29%); omphalocele (20%);
neural tube defects (9%); and cystic hygroma or lymphangiectasia (14%).
Abnormalities of amniotic fluid volume (12%) and renal defects (9%) were
seen less frequently. These data suggest that in the early second
trimester, the time of most routine screening ultrasonographic
examinations, most but not all fetuses with trisomy 18 have sonographically
detectable anatomic abnormalities. The fetal hand appears to be abnormal in
most early second trimester fetuses with trisomy 18, but the abnormality
may be subtle and or unilateral.
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