| 魏英妮,张羽辰,邓宗凤,王迎秋,黄巧洁,陈亚岩.胎儿库拉里诺综合征产前超声特征及诊断方法:2例报道及文献复习[J].中国医学影像技术,2024,40(8):1212~1215 |
| 胎儿库拉里诺综合征产前超声特征及诊断方法:2例报道及文献复习 |
| Prenatal ultrasonic characteristics and diagnosis of fetal Currarino syndrome: Report of 2 cases and review of literature |
| 投稿时间：2024-03-01 修订日期：2024-04-15 |
| DOI：10.13929/j.issn.1003-3289.2024.08.022 |
| 中文关键词: 库拉里诺三联征 超声检查,产前 羊膜腔穿刺术 基因 |
| 英文关键词:Currarino triad ultrasonography, prenatal amniocentesis genes |
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| 中文摘要: |
| 目的 分析胎儿库拉里诺综合征(CS)产前超声表现及产前诊断方法。方法 回顾性分析产前超声诊断为CS并经基因检测确诊的2胎胎儿,结合文献报道中的6胎CS阐述其产前超声特征及诊断方法。结果 8胎产前诊断CS胎儿中,4胎为单胎,均为女性且均有明确CS家族史,其中1胎检出MNX1基因突变;4胎为2对单绒毛膜双胎,均为男性且均检出MNX1基因突变。8胎CS胎儿中,仅2胎可见完整三联征(骶骨发育不全、骶前肿物及肛门直肠畸形);8胎均见骶尾骨发育不良,产前超声检出6胎(6/8,75.00%);6胎CS伴脊髓圆锥低,产前超声检出2胎(2/6,33.33%)。结论 产前超声是筛查胎儿CS的首选无创影像学方法;发现胎儿骶尾部发育不全、骶前肿物和/或肛门直肠畸形异常时,应惕CS可能,必要时行MR检查、基因检测及产前优生咨询。 |
| 英文摘要: |
| Objective To explore prenatal ultrasonic characteristics of fetal Currarino syndrome (CS) and methods for prenatal diagnosis of CS. Methods Two fetuses with CS confirmed by genetic examination were retrospectively analyzed, while 6 CS fetuses with complete prenatal ultrasonic data in literature were reviewed. Prenatal ultrasonic characteristics of CS fetuses and the method for prenatal diagnosis of CS were discussed. Results Among 8 CS fetuses diagnosed with prenatal ultrasound, 4 were female singletons with a clear family history of CS, and MNX1 gene mutation was found in 1 fetus. The other 4 fetuses were 2 pairs of male monochorionic twins, all with MNX1 gene mutation. Among 8 CS fetuses, complete triad (sacral agenesis abnormalities, anorectal malformation and presacral mass) were displayed only in 2 fetuses, while all 8 had sacral agenesis abnormalities and 6 (6/8, 75.00%) were detected with prenatal ultrasound, 6 had low location of conus medullaris and 2 (2/6, 33.33%) detected with prenatal ultrasound. Conclusion Prenatal ultrasound was the first choice for non-invasive diagnosis of fetal CS. When one of sacral agenesis abnormalities, anorectal malformation and presacral mass was found with prenatal ultrasound, the possibility of CS should be considered, and fetal MRI, genetic examination and prenatal genetic counselling should be recommended if necessary. |
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