Premium
Histological findings in a case of alobar holoprosencephaly diagnosed at 10 weeks of pregnancy
Author(s) -
Wong Hong Soo,
Tang Mary Hoi Yin,
Yan Kin Wing,
Cheung Lauvena Wu Kiu
Publication year - 1999
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/(sici)1097-0223(199909)19:9<859::aid-pd633>3.0.co;2-7
Subject(s) - holoprosencephaly , medicine , anatomy , ultrasound , pathological , fetus , pathology , pregnancy , radiology , biology , genetics
A case of alobar holoprosencephaly diagnosed at 10+3 weeks' gestation by transabdominal and transvaginal ultrasound examination followed by histological confirmation is presented. The diagnosis was based on two sonographic criteria: intracranial finding of a single ventricle with a mantle and no visible midline structures but fusion of the thalami and corpus striatum, and facial abnormalities, including hypotelorism and proboscis. The fetal karyotype was triploidy. The ultrasound findings were confirmed by pathological examination. The histological findings of proboscis, single lens and single ventricle with neural tissue remnants are presented. Copyright © 1999 John Wiley & Sons, Ltd.