The ultrasonographic features correlated with the morphopathological aspects in open spina bifida

Introduction. The aim of this study was to analyze the so­no­gra­phic findings in open spina bifida detected in the first and second trimesters of pregnancy and to correlate them with the morphopathological aspects. Materials and method. This retrospective research was conducted using data collected from fetuses who underwent anatomical ul­tra­sound scans in the first trimester (FT) and second tri­mes­ter (ST) at the Prenatal Diagnostic Unit of the Craiova Coun­ty Emergency Clinical Hos­pi­tal, Romania, between Ja­nua­ry 2018 and December 2023. Results. The study in­clu­ded 12 cases of spina bifida (SB) in the first trimester and two cases in the second trimester. We included these ca­ses into different categories, by the type of spina bifida en­coun­tered: 12 cases of SBA-FT, which in­clu­ded eight cases of myeloschisis (MYS), three cases of mye­lo­me­nin­go­cele (MMC) and one case of meningocele (ME); and two cases of SBA-ST of the MYS type. We also included five con­trol ca­ses of first-trimester miscarriages without structural ab­nor­ma­li­ties, in order to compare structural aspects. In the SB-FT group, we found abnormal aspects of the fourth ven­tri­cle, also named intracranial translucency (IT) in 9 out of 12 ca­ses (75%), a brain stem anteroposterior diameter, and brain stem to occipital bone ratio abnormal in all 12 cases (grea­ter than 1). The “crash sign” was present in 10 out of 12 ca­ses (83.33%), and the spinal defect was visualized in 8 out of 12 pa­tients (66.66%). In the SB-ST group, using the stand­ard axial sections (transventricular, transcerebellar, trans­tha­la­mic and a longitudinal and transverse section through the spi­nal cord), we were able to detect defects and changes in the analyzed cases: frontal bone collapse, transcerebellar com­pres­sion, ventriculomegaly, cisterna magna obliteration, and structural defects of the spinal cord. We observed the pre­sence of specific known ultrasound signs such as the “le­mon sign” and the “banana sign”. Medical termination of preg­nan­cy was the option chosen in all cases of SB-FT. The two cases of SB-ST resulted in miscarriage. This allowed us to conduct an extensive histologic study in order to con­firm the ultrasonographic diagnosis. Conclusions. The ul­tra­so­no­gra­phic visualization of the spinal defect along with the exa­mi­na­tion of both medio sagittal and axial planes looking for intracranial ultrasonographic markers are important in the early detection of spina bifida.