Saltzman D H, Krauss C M, Goldman J M, Benacerraf B R
Department of Obstetrics and Gynecology, and Radiology, Brigham and Women's Hospital, Boston, Massachusetts 02115.
Prenat Diagn. 1991 Mar;11(3):139-43. doi: 10.1002/pd.1970110302.
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.
我们报告两例通过高分辨率超声产前检测无脑回畸形的病例。首例病例因无脑回畸形家族史及未明确的染色体异常而被转诊至高危产科管理并接受系列产前超声检查。孕32周时诊断出符合无脑回畸形的平滑脑回模式。第二例病例因孕周与胎儿大小不符而接受产前超声检查。超声检查在孕31.5周时显示出平滑脑回模式。鉴于这一超声检查结果，采集了胎儿血样并报告了染色体异常，从而确诊。据我们所知，这些病例代表了超声产前诊断脑回缺失或无脑回畸形的首例报告。
