Prenatal ultrasonic characteristics and diagnosis of fetal Currarino syndrome:Report of 2 cases and review of literature
10.13929/j.issn.1003-3289.2024.08.022
- VernacularTitle: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
- Author:
Yingni WEI
1
;
Yuchen ZHANG
;
Zongfeng DENG
;
Yingqiu WANG
;
Qiaojie HUANG
;
Yayan CHEN
Author Information
1. 深圳市龙华区妇幼保健院超声科,广东深圳 518110
- Keywords:
Currarino triad;
ultrasonography,prenatal;
amniocentesis;
genes
- From:
Chinese Journal of Medical Imaging Technology
2024;40(8):1212-1215
- CountryChina
- Language:Chinese
-
Abstract:
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.
