First trimester diagnosis of holoprosencephaly and cyclopia with triploidy by transvaginal three-dimensional ultrasonography.
We present the prenatal three-dimensional (3D) ultrasound findings in a case of holoprosencephaly and cyclopia at 11 weeks gestation. Only holoprosencephaly with missing cyclopia were initially diagnosed because suboptimal views of the fetal face were obtained with transvaginal two-dimensional (2D) ultrasonography due to fetal position. Chromosomes identified by analysis of a fluid sample from early amniocentesis demonstrated a triploidy (69, XXX), spontaneous fetal demise occurred at 12 weeks and the pregnancy was terminated. This case demonstrated the usefulness of transvaginal 3D ultrasonography in establishing the final diagnosis.
Hsu
T Y
TY
Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, 123, Ta Pei Road, Niao Sung Hsiang, Kaohsiung, Taiwan, ROC.
Chang
S Y
SY
Ou
C Y
CY
Chen
Z H
ZH
Tsai
W L
WL
Chang
M S
MS
Soong
Y K
YK
D000328:Adult; D000649:Amniocentesis; D005260:Female; D005865:Gestational Age; D016142:Holoprosencephaly / Q000000981:diagnostic imaging*; D006801:Humans; D011003:Ploidies; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D012729:Sex Chromosome Aberrations; D016216:Ultrasonography, Prenatal / Q000379:methods*; D014960:X Chromosome