Journal of Ultrasound in Medicine, Vol 13, Issue 5 347-355, Copyright © 1994 by American Institute of Ultrasound in Medicine
Early detection of embryonic malformations by transvaginal and color Doppler sonography
F. M. Bonilla-Musoles, F. Raga, M. J. Ballester and V. Serra
Department of Obstetrics and Gynecology, Faculty of Medicine, University of Valencia, Spain.
A total of 834 women with uneventful pregnancies were followed
prospectively until the 15th week of gestation by TVS to screen for early
embryonic malformations. Twenty-eight embryonic anomalies were detected in
this series (3.3%). The median gestational age at diagnosis was 11 (range,
8 to 15) weeks. Two neural tube defects were missed by early TVS screening.
Two suspected abdominal wall defects were not confirmed by repeat
mid-second trimester abdominal sonography representing 6.7% of all fetal
malformations evident by 24 weeks of gestation. The sensitivity and
specificity of TVS screening for fetal malformations in this series were
93.3 and 99.7%, respectively. In addition, the role of TCDU also was
investigated in these 28 abnormal embryos. TCDU proved to be of limited
value as it was useful only for evaluating those embryonic malformations
with vascular involvement. In such cases, the diagnosis was greatly
enhanced with this technique. Two previously undetected single umbilical
arteries were also diagnosed by TCDU as well. This series included 11
aneuploid embryos (44%), most of them among the embryos with focal or
generalized edema. This study demonstrates that screening for early
embryonic malformations is feasible using TVS techniques, but a repeat
mid-second trimester abdominal sonogram still is recommended.
