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【病史特点】---找出所提供病史中的有价值之处（如无有价值信息，此项可空缺。但以下三项缺一不可）
【图像特征】---重点分析所给图像的特点
【超声诊断】---根据图像特点提出自己的诊断意见
【鉴别诊断】---根据图像表现对其他可能的诊断予以鉴别
Case report
29-year-old low risk patient underwent first trimester combined screening for fetal aneuploidies (ultrasound + maternal serum biochemistry). The test result was considered normal; ultrasound revealed no abnormalities.
A subsequent second trimester ultrasonographic examination revealed the findings that can be seen on the images and videos below. In view of the findings, a genetic amniocentesis was proposed to the patient. Classical cytogenetics (GTG banding) revealed normal female karyotype and had failed to explain the observed abnormalities. Definitive molecular diagnosis was done only after delivery. The affected girl lived 9 days.
患者22岁，早期妊娠进行了胎儿非整倍体超声筛查和血清学检查，结果均为阴性。中期妊娠时超声检查有如下所见。由于这些表现，进行了基因学羊水分析，细胞遗传学分析显示为正常女性核型，无法解释超声所见。最终分娩后经分子学确诊，女婴仅存活9天。
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