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First‐trimester ultrasound diagnosis of holoprosencephaly: three case reports
Author(s) -
Wong H. S.,
Lam Y. H.,
Tang M. H. Y.,
Cheung L. W. K.,
Ng L. K. L.,
Yan K. W.
Publication year - 1999
Publication title -
ultrasound in obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.202
H-Index - 141
eISSN - 1469-0705
pISSN - 0960-7692
DOI - 10.1046/j.1469-0705.1999.13050356.x
Subject(s) - medicine , holoprosencephaly , ultrasound , obstetrics , first trimester , pregnancy , radiology , fetus , genetics , biology
We present three cases of fetal holoprosencephaly diagnosed by transabdominal and transvaginal ultrasound examinations at 10 and 13 weeks' gestation. The diagnosis was based on two sonographic criteria: first, the intracranial finding of a single ventricle with a cerebral mantle and no visible midline structures but fusion of the thalami and corpus striatum; and, second, facial abnormalities, including hypotelorism. The ultrasound findings were confirmed by embryoscopy before abortion in one case and by pathological examination after abortion in two cases. Chromosome study of the three fetuses showed trisomy 18, triploidy and mosaic 18p deletion and duplication. Copyright © 1999 International Society of Ultrasound in Obstetrics and Gynecology