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This study aimed to determine the sensitivity of a first-trimester routine scan in detecting spina bifida (SB) and evaluating the first-trimester intracranial signs. This retrospective study was a review of a prospectively collected database. All cases of SB diagnosed in a tertiary center from 2008 to 2015 were identified. The ultrasound images and medical records were reviewed. All cases of SB diagnosed prenatally were confirmed at birth or autopsy. A total of 24 cases of SB were diagnosed from 53,349 pregnancy cases. Except for 10 cases with a body stalk anomaly, craniorachischisis, or iniencephaly, 7 cases with open spina bifida (OSB) and 7 cases with closed spina bifida (CSB) were analyzed. The first-trimester detection rates were 100% (7 of 7) for OSB and 28.5% (2 of 7) for CSB. Eight cases were highly suspected of SB in the first trimester because of an abnormal appearance of the posterior brain; 3 were false-positive cases. Two isolated cases of OSB had first-trimester intracranial signs. An obliterated cisterna magna (CM) showed the highest sensitivity for OSB but low specificity. Two cases of OSB had no discernible landmark of intracranial translucency and the CM, and 4 showed normal intracranial translucency with an obliterated CM. All CSB cases were coupled with a normal hind brain except for 2 cases. A first-trimester routine scan has high sensitivity in screening for OSB. The CM may be the most sensitive intracranial sign. © 2020 American Institute of Ultrasound in Medicine.


Yimei Liao, Huaxuan Wen, Guoyang Luo, Shuyuan Ouyang, Jingru Bi, Ying Yuan, Dandan Luo, Yi Huang, Kui Zhang, Xiaoxian Tian, Shengli Li. Fetal Open and Closed Spina Bifida on a Routine Scan at 11 Weeks to 13 Weeks 6 Days. Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine. 2021 Feb;40(2):237-247

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PMID: 32691861

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