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Fetuses With Trisomy 21 Having Conflicting Findings on Antenatal Testing for Fetal Well-being

Departments of Obstetrics and Gynecology (G.W., D.L.) and Radiology (D.L.), Beth Israel Deaconess Medical Center, Boston, Massachusetts USA.

Address correspondence to Geoffrey Wong, MD, Tufts-New England Medical Center, Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, 750 Washington St, Boston, MA 02111 USA. E-mail: gwong{at}tufts-nemc.org

Objective. This series reports 3 cases with conflicting antenatal sonographic findings: intrauterine growth restriction, absent or reversed end-diastolic flow in umbilical artery Doppler imaging, and reassuring biophysical test results. Methods. We conducted a retrospective review of medical records. Results. Three fetuses had intrauterine growth restriction and absent or reversed end-diastolic flow in umbilical artery Doppler studies, but the biophysical test results and amniotic fluid volume assessment were normal. We found no other signs of fetal jeopardy from placental insufficiency. In these cases, trisomy 21 was established after birth by karyotyping. Ventricular septal defects and aortic regurgitation were noted in 2 of the 3 affected fetuses. Conclusions. When there is an unusual combination of antenatal sonographic findings such as presented here, fetal cardiac abnormalities and aneuploidy should be considered.

Key Words: Doppler waveform • fetal anomalies • fetal growth restriction • trisomy 21 • umbilical artery

Abbreviations: IUGR, intrauterine growth restriction