Abstract
To report our experience with first-trimester sonographic findings in pregnancies complicated by trisomy 18. Proven cases of trisomy 18 undergoing sonographic examination between 11 + 0 and 13 + 6 weeks of gestation were retrospectively identified. Information on maternal demographics, prenatal sonographic findings, and chromosomal analysis results was obtained by reviewing the ultrasound reports and medical records. During the 12-year period from July 1997 to June 2009, 53 cases of full trisomy 18 had first-trimester sonographic examination performed at our institution. All but one fetus displayed one or more abnormal sonographic finding, most commonly increased nuchal translucency thickness (n = 48, 91%). Absent or hypoplastic nasal bone was documented in 53% of the fetuses in which this marker was specifically looked for. Structural anomalies included omphalocele in 11 (21%), abnormal posturing of the hands in three (6%), megacystis in two (4%), and abnormal four-chamber view of the heart in two (4%). Early-onset fetal growth restriction and bradycardia were documented in 14 (26%) and 4 (8%) of the cases, respectively. Our study demonstrates that a large number of fetuses with trisomy 18 have abnormal sonographic findings in...Continue Reading
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