Journal of Ultrasound in Medicine, Vol 12, Issue 3 153-161, Copyright © 1993 by American Institute of Ultrasound in Medicine
Predicting aneuploidy in fetuses with cardiac anomalies: significance of visceral situs and noncardiac anomalies
D. L. Brown, D. S. Emerson, L. P. Shulman, P. M. Doubilet, R. E. Felker and S. Van Praagh
Department of Radiology Harvard Medical School, Brigham and Women's Hospital Boston, Massachusetts 02115.
To determine whether the risk of aneuploidy in fetuses with cardiac
anomalies is affected by abnormal visceral situs or coexisting noncardiac
anomalies (NCA), were reviewed 125 cases in which a structural cardiac
anomaly was detected by prenatal sonography. Forty-three of the 125 fetuses
(34%) had an abnormal karyotype (31 autosomal trisomies, 12 other). None of
the 13 fetuses with abnormal visceral situs had an abnormal karyotype,
whereas an abnormal karyotype was present in 43 of 112 with normal visceral
situs (P < 0.01, Fisher's exact test). The karyotype was abnormal in 33
of 52 (63%) with coexisting NCA and in only 10 of 73 (14%) without
coexisting NCA (P < 0.001, chi-square). Therefore, among fetuses with
structural cardiac anomalies, abnormal visceral situs is strongly
predictive (100% in our series) of normal karyotype, whereas the presence
of coexisting NCA significantly increases the risk of aneuploidy. These
findings can help guide recommendations concerning prenatal karyotyping.
