Retrospective review of diagnostic performance of intracranial translucency in detection of open spina bifida at the 11–13‐week scan

Abstract

OBJECTIVES: To evaluate diagnostic performance of intracranial translucency (IT) for detection of open spina bifida and interobserver agreement for visualization of IT during the 11-13-week scan. METHODS: A retrospective study was undertaken in a tertiary referral center. Two hundred 11-13-week scans for nuchal translucency, performed by sonographers certified by The Fetal Medicine Foundation, U.K., were reviewed independently for IT by two expert observers. When IT was not seen, the observers determined whether this was due to poor IT image quality or the presence of spina bifida. Discordant cases were reviewed by a third observer and the majority decision was used for analysis. All observers were blinded to individual pregnancy outcome and the number of cases with spina bifida. RESULTS: There were 191 normal fetuses, eight fetuses with open spina bifida and one with closed spina bifida (this case was excluded from analysis). IT was seen in 150 fetuses and all were normal. In six of the 49 cases in which IT was not seen, IT non-visibility was attributed to open spina bifida; among these cases, four fetuses had open spina bifida and two were normal. In the remaining 43 cases (including 39 normal fetuses), IT non-visibility was attributed to inadequate image quality. Sensitivity was 50% (4/8) and specificity was 99% (150/152). Concordance between the two observers concerning IT visibility was 79%, (κ = 0.47, representing moderate agreement). CONCLUSION: There was moderate interobserver agreement for visualization of IT on images obtained for nuchal translucency measurement at 11-13 weeks. When IT was confidently seen, open spina bifida could be excluded. However, non-visibility of IT correctly diagnosed only 50% of fetuses with open spina bifida.