Prenatal diagnosis of lissencephaly.
We report two cases of prenatal detection of lissencephaly by high-resolution ultrasound. The first case studied was referred for high-risk obstetrical management and serial antenatal ultrasounds because of a family history of lissencephaly in an unresolved chromosomal abnormality. Diagnosis of a smooth gyral pattern consistent with lissencephaly was made at 32 weeks' gestation. The second case was referred for prenatal ultrasound because of a size versus dates discrepancy. The ultrasound examination showed a smooth gyral pattern at 31.5 weeks. In light of this ultrasound finding, a fetal blood sample was obtained and a chromosomal abnormality reported, confirming the diagnosis. To our knowledge, these cases represent the first report of the sonographic prenatal diagnosis of cerebral agyria or lissencephaly.
Saltzman
D H
DH
Department of Obstetrics and Gynecology, and Radiology, Brigham and Women's Hospital, Boston, Massachusetts 02115.
Krauss
C M
CM
Goldman
J M
JM
Benacerraf
B R
BR
D000328:Adult; D001927:Brain Diseases / Q000000981:diagnostic imaging* / Q000235:genetics; D002869:Chromosome Aberrations / Q000000981:diagnostic imaging*; D025063:Chromosome Disorders; D002886:Chromosomes, Human, Pair 17; D005260:Female; D005313:Fetal Death; D005315:Fetal Diseases / Q000000981:diagnostic imaging*; D005317:Fetal Growth Retardation / Q000000981:diagnostic imaging; D006801:Humans; D008831:Microcephaly / Q000000981:diagnostic imaging; D011247:Pregnancy; D011263:Pregnancy Trimester, Third; D013577:Syndrome; D013771:Tetralogy of Fallot / Q000000981:diagnostic imaging; D016216:Ultrasonography, Prenatal