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目的探讨产前超声筛查胎儿鼻骨缺失预测21-三体的临床价值。方法回顾性分析在复旦大学附属妇产科医院产前诊断中心行中孕期胎儿大畸形超声筛查因各种原因行羊水穿刺的孕妇41例,分析鼻骨缺失胎儿的超声声像图和染色体检查结果。结果鼻骨缺失41例中,17例为染色体核型分析为21-三体、24例染色体正常。17例鼻骨缺失的唐氏综合征胎儿主要超声表现分为以下几种:心脏异常6例(心内膜垫缺失4例,室间隔缺损2例,三尖辨反流2例等)、颈项软组织增厚4例、十二指肠狭窄或闭锁3例、颅脑中线部位小型囊性结构3例、以及下颌骨偏短、单脐动脉、小指中段骨缺失及股骨肱骨偏短等轻微结构异常。结论产前超声筛查发现鼻骨缺失,尤其是合并有其他结构异常,应提示孕妇进行胎儿染色体核型分析,尽早诊断21-三体。
Objective To investigate the clinical value of prenatal ultrasound screening for fetal nasal bone defects in predicting 21-trisomy. Methods A retrospective analysis of 41 cases of pregnant women with fetal amniocentesis in prenatal diagnosis center of prenatal diagnosis center of obstetrics and gynecology hospital of Fudan University during pregnancy was performed with amniocentesis for various reasons. The ultrasonographic and chromosomal examination results of fetus with missing nasal bone . Results 41 cases of nasal bone missing, 17 cases of karyotype analysis of 21-trisomy, 24 cases of normal chromosomes. 17 cases of nasal denervated Down Syndrome Fetal ultrasound mainly divided into the following categories: 6 cases of abnormal heart (endocardial pad loss in 4 cases, 2 cases of ventricular septal defect, tricuspid regurgitation in 2 cases, etc.), neck soft tissue Thickened in 4 cases, 3 cases of duodenal stenosis or atresia, 3 cases of small cystic structures in the midline of the brain, and minor structural abnormalities such as partial short mandibular, unilateral umbilical arteries, missing middle finger of the little finger and short humerus of the femur. Conclusion Nasal bone loss was found in prenatal ultrasound screening, especially with other structural abnormalities. Pregnant women should be prompted to analyze fetal karyotypes and diagnose 21-trisomy as soon as possible.