First trimester diagnosis of holoprosencephaly and cyclopia with triploidyby transvaginal three-dimensional ultrasonography

We present the prenatal three-dimensional (3D) ultrasound findings in a cas e of holoprosencephaly and cyclopia at ii weeks gestation. Only holoprosenc ephaly with missing cyclopia were initially diagnosed because suboptimal vi ews of the fetal face were obtained with transvaginal two-dimensional (2D) ultrasonography due to fetal position. Chromosomes identified by analysis o f a fluid sample from early amniocentesis demonstrated a triploidy (69, XXX ), spontaneous fetal demise occurred at 12 weeks and the pregnancy was term inated. This case demonstrated the usefulness of transvaginal 3D ultrasonog raphy in establishing the final diagnosis. (C) 2001 Elsevier Science Irelan d Ltd. All rights reserved.