期刊文献+

28例胎儿足内翻临床分析 被引量:1

Clinical analysis of talipes equinovarus among 28 fetal cases
下载PDF
导出
摘要 目的探讨胎儿足内翻的临床特点及其预后。方法回顾性收集2016年2月至2019年11月在杭州市第一人民医院产前诊断中心诊断为胎儿足内翻病例28例。根据其结构异常情况,分为单纯型足内翻组(17例)和复杂型足内翻组(11例)。对病例行产前诊断[染色体核型+单核苷酸多态性序列(SNP-Array)],并追踪随访所有病例预后情况。结果单纯型足内翻占60.71%(17/28),复杂型足内翻占39.29%(11/28)。单纯型足内翻组7例接受了产前诊断,均未见明显异常。复杂型足内翻组4例接受了产前诊断,其中3例异常,分别为:13-三体、22.q11.2微缺失综合征、15q13.3微重复,经家系验证来源于父亲。单纯型足内翻组选择引产7例,早产2例,足月产8例;复杂型足内翻组选择引产7例,早产3例(其中2例新生儿死亡),足月产1例。单纯型足内翻组10例存活,2例进行手法复位;复杂型足内翻组2例存活,出生后1例手法复位,1例石膏复位。结论复杂型足内翻染色体异常较单纯型足内翻更常见,单纯型足内翻足月产率及分娩孕周均高于复杂型足内翻。 Objective To investigate the clinical characteristics and prognosis of fetuses with talipes equinovarus(TE).Methods 28 cases diagnosed with TE in antenatal diagnosis center of Hangzhou First People’s Hospital were found from February 2016 to November 2019.They were divided into simple TE group(17 cases)and complex group TE(11 cases)according to the structural anomalies.All the cases were performed with antenatal diagnosis(karyotype and SNP-Array detection)and were followed with the prognosis.Results There were 17 cases with simple TE account for 60.71%and 11 cases with complex TE account for 39.29%.7 cases in the simple TE group underwent antenatal diagnosis,and no obvious abnormalities were found.4 cases underwent antenatal diagnosis in the complex TE group,and 3 cases were diagnosed with abnormal and were verified from father by family verification,which were trisomy 13,22.q11.2 microdeletion syndrome and 15 q13.3 microrepetition.In simple TE group,7 cases were induced labor,2 cases were premature delivery and 8 cases were full-term delivery.In complex TE group,7 cases were induced labor,3 cases were premature delivery(including 2 cases of neonatal death)and 1 case was full-term labor.There were 10 cases survived and 2 cases underwent manual reduction in simple TE group.There were 2 cases survived,1 case underwent manual reduction and 1 case underwent gypsum fixation after birth in complex group.Conclusion Chromosome abnormalities in complex TE group are more common than those with simple TE,the rate of full-term birth and gestational weeks in simple TE group were better than that in complex TE group.
作者 吴雅枫 翟洪波 鲁建央 鲁才娟 詹欣 朱惠青 WU Yafeng;ZHAI Hongbo;LU Jianyang;LU Caijuan;ZHAN Xin;ZHU Huiqing(Department of Obstetrics,Hangzhou First People's Hospital Affiliated to College of Medicine,Zhejiang University,Zhejiang Hangzhou 310006,China)
出处 《中国妇幼健康研究》 2020年第10期1344-1348,共5页 Chinese Journal of Woman and Child Health Research
基金 杭州市科委社会发展自主申报资助项目(20170533B33)。
关键词 足内翻 胎儿 产前诊断 染色体核型 单核苷酸多态性序列检测 talipes equinovarus(TE) fetuses antenatal diagnosis karyotype SNP-Array detection
  • 相关文献

参考文献2

二级参考文献37

  • 1Lochmiller C, Johnston D, Scott A, et al. Genetic epidemiology study of idiopathic talipes equinovarus[J]. Am J Med Genet, 1998,79(2):90-96.
  • 2Dietz F. The genetics of idiopathic clubfoot[J]. Clin Orthop Relat Res, 2002,401:39-48.
  • 3Wynne-Davies R. Family studies and the cause of congenital club foot. Talipes equinovarus, Talipes calcaneo-valgus and metatarsus varus[J].J Bone Joint Surg Br, 1964,46:445-463.
  • 4Benacerraf BR. Antenatal sonographic diagnosis of congenital clubfoot: a possible indication for amniocentesis[J]. J Clin Ultrasound, 1986,14(9):703-706.
  • 5Treadwell MC, Stanitski CL, King M. Prenatal sonographic diagnosis of clubfoot: implications for patient counseling[J]. J Pediatr Orthop, 1999,19(1):8-10.
  • 6Offerdal K, Jebens N, Blaas HG, et al. Prenatal ultrasound detection of talipes equinovarus in a non-selected population of 49 314 deliveries in Norway[J]. Ultrasound Obstet Gynecol, 2007,30(6):838-844. DOI: 10.1002/uog.4079.
  • 7Tredwell SJ, Wilson D, Wilmink MA. Review of the effect of early amnio,~"entesis on foot deformity in the neonate[J]. J Pediatr Orthop, 2001,21(5):636-641.
  • 8Chung CS, Nemechek RW, Larsen IJ, et ah Genetic and epidemiologieal studies of clubfoot in Hawaii. General and medical considerations[J]. Hum Hered, 1969,19(4):321-342.
  • 9Viaris de le Segno B, Gruehy N, Bronfen C, et al. Prenatal diagnosis of clubfoot: Chromosomal abnormalities associated with fetal defects and outcome in a tertiary center[J]. J Clin Ultrasound, 2016,44(2):100-105. DOI: 10.1002/jcu.22275.
  • 10de Vries BB, Pfundt R, Leisink M, et al. Diagnostic genome profiling in taental retardation[J]. Am J Hum Genet, 2005, 77 (4):606-616. DOI: 10.1086/491719.

共引文献14

同被引文献15

引证文献1

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部