Abstract:Objective: To explore clinical application value of prenatal ultrasound in diagnosis of fetal heterotax syndrome with segmental analysis, to compare the results of pathological anatomy. Methods: We compared relevance ratio between February 2011 to December 2012 without using segmental analysis and January 2013 to March 2015, 21 fetus with heterotax syndrome confirmed by prenatal ultrasound were analyzed retrospectively through segmental analysis. We also compared the prenatal ultrasonographic characteristics and pathologic autopsy after induced labor. Results: During the period of January 2013 to March 2015, 21 fetuses with heterotax syndrome were diagnosed, and proved by autopsy. Sixteen fetuses had right isomerism with complex cardiac anomalies, juxtaposition of inferior vena cava and abdominal aorta, abnormal position of the stomach, 15 fetuses with asplenia, 1 fetus with spleen dysplasia; 5 fetuses had left isomerism with interruption of inferior vena cava with azygos continuation, 3 fetuses with complex cardiac anomalies, 2 fetuses with normal cardiac structure, 2 fetuses with atrioventricular block. Eighteen fetuses were confirmed by pathological anatomy after induced labor. While in February 2011 to December 2012, without using segmental analysis, 4 fetuses with heterotax syndrome were missed diagnosis compared with autopsy, only 1 case was detected by prenatal ultrasound. Conclusion: Segmental analysis for prenatal ultrasound can significantly reduce the misdiagnosis rate of fetal heterotax syndrome, in favor of the prenatal counseling and clinical treatment of decision-making in the perinatal period.
何晓琴,钟晓红. 产前超声“节段分析法”诊断胎儿内脏异位综合征[J]. 中国临床医学影像杂志, 2015, 26(11): 808-811.
HE Xiao-qin, ZHONG Xiao-hong. Segmental analysis for prenatal ultrasound in diagnosis of fetal heterotax syndrome. JOURNAL OF CHINA MEDICAL IMAGING, 2015, 26(11): 808-811.
[1]Berg C, Geipel A, Smrcek J, et al. Prenatal diagnosis of cardiosplenic syndromes: a 10-year experience[J]. Ultrasound Obstet Gynecol, 2003, 22(5): 451-459.
[2]Bahado-Singh R, Oz U, Deren O, et al. Splenic artery Doppler peak systolic velocity predicts severe fetal anemia in rhesus disease[J]. Am J Obstet Gynecol, 2000, 182(5): 1222-1226.
[3]Hata T, Kuno A, Dai SY, et al. Three-dimensional sonographic volume measurement of the fetal spleen[J]. J Obstet Gynaecol Res, 2007, 33(5): 600-605.
[4]Berg C, Geipel A, Kohl T, et al. Fetal echocardiographic evaluation of atrial morphology and the prediction of laterality in cases of heterotaxy syndromes[J]. Ultrasound Obstet Gynecol, 2005, 26(5): 538-545.
[5]Lin AE, Ticho BS, Houde K, et al. Heterotaxy: associated conditions and hospital-based prevalence in newborns[J]. Genet Med, 2000, 3(2): 157-172.
[6]Huggon IC, Cook AC, Smeeton NC, et al. Atrioventricular septal defects diagnosed in fetal life: associated cardiac and extra-cardiac abnormalities and outcome[J]. J Am Coll Cardiol, 2000, 36(2): 593-601.
[7]Dilli A, Gultekin SS, Ayaz UY, et al. A rare variation of the heterotaxy syndrome[J]. Case Rep Med, 2012, 20(12): 840453.
[8]石伟元,张彤,张昊晴,等. “三步节段法”产前超声诊断胎儿内脏异位综合征[J]. 中国医学影像技术,2012,28(5):978-981.
[9]吴瑛. 胎儿内脏位置异常的超声鉴别诊断[J]. 中华医学超声杂志:电子版,2014,11(1):2-5.
[10]韩翠锋,吴瑛. 内脏异位综合征超声诊断研究进展[J]. 中华医学超声杂志:电子版,2013,10(10):794-795.
[11]Abuhamad A, Chaoui R. 胎儿超声心动图实用指南——正常和异常心脏[M]. 李治安,译. 天津:天津科技翻译出版公司,2011:262-272.
[12]Mahalik SK, Khanna S, Menon P. Malrotation and volvulus associated with heterotaxy syndrome[J]. J Indian Assoc Pediatr Surg, 2012, 17(3): 138-140.
[13]Cohen MS, Anderson RH, Cohen MI, et al. Controversies, genetics, diagnostic assessment, and outcomes relating to the heterotaxy syndrome[J]. Cardiol Young, 2007, 17(Suppl 2): 29-43.
[14]Perloff JK. The cardiac malpositions[J]. Am J Cardiol, 2011, 108(9): 1352-1361.
[15]Eronen MP, Aittomaki KA, Kajantie EO, et al. Outcome of left atrial isomerism at a single institution[J]. Pediatr Cardiol, 2012, 33(4): 596-600.
[16]林美芳,谢红宁. 胎儿左、右侧异构综合征产前超声特征的对比研究[J]. 中华超声影像杂志,2011,20(5):432-435.