A sonographic approach to prenatal classification of congenital spine anomalies

Abstract

Objective: To develop a classification system for congenital spine anomalies detected by prenatal ultrasound. Methods: Data were collected from fetuses with spine abnormalities diagnosed in our institution over a five‐year period between June 2005 and June 2010. The ultrasound images were analysed to determine which features were associated with different congenital spine anomalies. Findings of the prenatal ultrasound images were correlated with other prenatal imaging, post mortem findings, post mortem imaging, neonatal imaging, karyotype, and other genetic workup. Data from published case reports of prenatal diagnosis of rare congenital spine anomalies were analysed to provide a comprehensive work. Results: During the study period, eighteen cases of spine abnormalities were diagnosed in 7819 women. The mean gestational age at diagnosis was 18.8w ± 2.2 SD. While most cases represented open NTD, a spectrum of vertebral abnormalities were diagnosed prenatally. These included hemivertebrae, block vertebrae, cleft or butterfly vertebrae, sacral agenesis, and a lipomeningocele. The most sensitive features for diagnosis of a spine abnormality included flaring of the vertebral arch ossification centres, abnormal spine curvature, and short spine length. While reported findings at the time of diagnosis were often conservative, retrospective analysis revealed good correlation with radiographic imaging. 3D imaging was found to be a valuable tool in many settings. Conclusions: Analysis of the study findings showed prenatal ultrasound allowed detection of disruption to the normal appearances of the fetal spine. Using the three features of flaring of the vertebral arch ossification centres, abnormal spine curvature, and short spine length, an algorithm was devised to aid with the diagnosis of spine anomalies for those who perform and report prenatal ultrasound.

Urine retention as the first presentation of congenital absence of the sacrum

“…[ 16 ] Sacral agenesis can be identified through prenatal ultrasound screening, and early screening should be conducted for fetuses at a high risk for anomalies. [ 16 , 17 ] The main treatment for sacral agenesis is correction of deformities and orthopaedic intervention. [ 14 , 18 , 19 ] Moreover for neurogenic bladder, the current treatment methods include medications, neuromodulation, botulinum toxin A injection, surgical procedures, issue engineering, stem cell transplantation, and gene therapy, besides, Traditional Chinese Medicine such as acupuncture.…”

Ultrasound and magnetic resonance imaging in the prenatal diagnosis of open spina bifida

“…Three-dimensional (3D) US has evolved very fast over the past few years due to high performance software in engineering, architecture and design [24]. The advantage of this technique is that it allows the acquisition of volumetric data which can be processed by the operator even after the completion of the examination [10,24,25].…”

“…Three-dimensional (3D) US has evolved very fast over the past few years due to high performance software in engineering, architecture and design [24]. The advantage of this technique is that it allows the acquisition of volumetric data which can be processed by the operator even after the completion of the examination [10,24,25]. It also allows multiple views of surfaces and structures as well as of certain tissues such as bones to be extracted from the volumetric data set and also the reconstruction of the fetal bones while focusing the examination on the area of interest [8,24].…”

“…The advantage of this technique is that it allows the acquisition of volumetric data which can be processed by the operator even after the completion of the examination [10,24,25]. It also allows multiple views of surfaces and structures as well as of certain tissues such as bones to be extracted from the volumetric data set and also the reconstruction of the fetal bones while focusing the examination on the area of interest [8,24]. Recent data from the literature advocates for 3D US in assessing skeletal anomalies and phenotypic features of the fetuses [8,[24][25][26].…”

“…It also allows multiple views of surfaces and structures as well as of certain tissues such as bones to be extracted from the volumetric data set and also the reconstruction of the fetal bones while focusing the examination on the area of interest [8,24]. Recent data from the literature advocates for 3D US in assessing skeletal anomalies and phenotypic features of the fetuses [8,[24][25][26]. There is an ongoing debate about the contribution of 3D US over 2D US in the diagnosis and management of spina bifida aperta.…”