Ajayi R A, Keen C E, Knott P D
Directorate of Women's Health Services, Lewisham Hospital NHS Trust, London, UK.
Prenat Diagn. 1995 Aug;15(8):762-4. doi: 10.1002/pd.1970150813.
This report describes the early prenatal diagnosis of the Pena Shokeir phenotype in an at-risk patient at 14 weeks' gestation. The diagnosis was based on an abnormal fetal movement profile, in association with an abnormal position of the fetal limbs. Pena Shokeir phenotype describes an inherited condition characterized by arthrogryposis and dysmorphic features as a result of fetal akinesia. It is a lethal abnormality and early diagnosis allows safer surgical methods of termination.
本报告描述了一名妊娠14周的高危患者佩纳-绍凯尔综合征（Pena Shokeir phenotype）的早期产前诊断情况。诊断依据是胎儿运动模式异常，同时伴有胎儿肢体位置异常。佩纳-绍凯尔综合征描述的是一种遗传性疾病，其特征为由于胎儿运动不能导致的关节挛缩和畸形特征。这是一种致命性异常，早期诊断有助于采用更安全的手术终止妊娠方法。
