PRENATAL-DIAGNOSIS OF LISSENCEPHALY

被引:29
|
作者
SALTZMAN, DH
KRAUSS, CM
GOLDMAN, JM
BENACERRAF, BR
机构
[1] BRIGHAM & WOMENS HOSP,DEPT RADIOL,BOSTON,MA 02115
[2] HARVARD UNIV,SCH MED,DEPT GENET,HARVARD COMMUN HLTH PLAN,BOSTON,MA 02115
关键词
LISSENCEPHALY; ULTRASOUND;
D O I
10.1002/pd.1970110302
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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.
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页码:139 / 143
页数:5
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