title: Prospective detection of open spina bifida at 11-13 weeks by assessing intracranial translucency and posterior brain.
abstract: 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.
authors: Center for Prenatal Diagnosis and Human Genetics, Berlin, Germany. chaoui@feindiagnostik.de
authors: R
authors: R
authors: Chaoui
authors: B
authors: B
authors: Benoit
authors: K S
authors: KS
authors: Heling
authors: K O
authors: KO
authors: Kagan
authors: V
authors: V
authors: Pietzsch
authors: A
authors: A
authors: Sarut Lopez
authors: I
authors: I
authors: Tekesin
authors: K
authors: K
authors: Karl
mesh_terms: D000028:Abortion, Induced / Q000706:statistics & numerical data*; D000328:Adult; D002531:Cerebellum / Q000002:abnormalities / Q000000981:diagnostic imaging* / Q000196:embryology; D018568:Crown-Rump Length; D005145:Face / Q000002:abnormalities / Q000000981:diagnostic imaging* / Q000196:embryology; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D048208:Nuchal Translucency Measurement / Q000379:methods; D011237:Predictive Value of Tests; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D016137:Spina Bifida Cystica / Q000000981:diagnostic imaging* / Q000196:embryology / Q000401:mortality