Center for Prenatal Diagnosis and Human Genetics, Berlin, Germany.
Ultrasound Obstet Gynecol. 2011 Dec;38(6):722-6. doi: 10.1002/uog.10111. Epub 2011 Nov 11.
We describe a case series of six fetuses with open spina bifida (OSB) from four different prenatal units, where the anomaly was detected at the routine 11-13-week ultrasound examination. Crown-rump length ranged from 49 to 78 mm. All cases were first suspected during nuchal translucency thickness measurement in the mid-sagittal plane of the face. OSB was lumbosacral in five fetuses and cervical in one. The intracranial translucency (IT) was obliterated in two cases, but some fluid was found in the other four cases. However, in all cases the typical landmarks of a normal posterior brain and normal IT were absent. In all six cases the ratio of brainstem diameter to brainstem-occipital bone distance was increased (≥ 1). This detection of an abnormal posterior brain led to a targeted examination and detection of the spinal lesion during the same examination in five cases, whereas in one suspicious case the patient was recalled at 17 weeks, when the abnormality was detected. Two fetuses had both multiple anomalies and trisomy 18. These prospective cases demonstrate the feasibility of using the standard mid-sagittal plane commonly used for NT measurement to assess the IT and the posterior brain and to determine the presence of OSB during NT screening.
我们描述了来自四个不同产前单位的六例开放性脊柱裂（OSB）胎儿病例系列，这些病例都是在常规的 11-13 周超声检查中发现的。头臀长范围从 49 毫米到 78 毫米不等。所有病例在面部正中矢状面的颈项透明层厚度测量中首先被怀疑存在异常。五例胎儿为腰骶部 OSB，一例为颈部 OSB。两例颅内透明层（IT）消失，但另外四例仍可见一些液体。然而，在所有病例中，正常后脑和正常 IT 的典型标志均缺失。在所有六例中，脑干直径与脑干-枕骨距离的比值均增加（≥1）。这种对异常后脑的检测导致在同一检查中对 5 例病例的脊髓病变进行了靶向检查和检测，而在 1 例可疑病例中，患者在 17 周时被召回，此时发现了异常。两例胎儿均存在多种异常和 18 三体。这些前瞻性病例证明了在 NT 筛查期间，使用常用于 NT 测量的标准正中矢状面评估 IT 和后脑并确定 OSB 存在的可行性。
