早孕期筛查胎儿神经管畸形的临床价值  

Ultrasonography-based diagnosis of fetal craniocerebral and neural tube malformation in early pregnancy

作　　者：林洋洋[1,2] 曾秀梅[1] 王坤[1] 梁元豪 刘宸宁 李庄 刘彦慧[1] 隗伏冰[1] 张秀果 

机构地区：[1]广东省东莞市妇幼保健院,523000 [2]广东医科大学妇产科学系,广东省东莞市510082 [3]广东医科大学附属厚街医院,广东省东莞市523945

出　　处：《实用医学杂志》2016年第14期2343-2346,共4页The Journal of Practical Medicine

基　　金：广东省医学科学技术研究基金(编号:A2014861);东莞市社会发展科技项目(编号:2014108101016)

摘　　要：目的：评估早孕期超声结构检查在胎儿神经管畸形诊断中的临床应用价值。方法 ：回顾分析2014年6月至2015年2月在东莞市妇幼保健院产检及分娩的6 630例病例,孕11-13＋6周进行胎儿超声结构检查,追踪早孕期胎儿神经管畸形引产病理结果,随访继续妊娠病例孕中期超声情况和临床结局。统计各畸形检出率,比较早中孕两个时期神经管畸形的检出类别差异。结果：各种神经管畸形早孕期检出率：露脑、无脑畸形100%（13/13）,全前脑80%（4/5,无叶全前脑100%,4/4）,脊柱裂42.9%（3/7,开放性脊柱裂50%,2/4）,脑脊膜膨出100%（2/2）。需到中晚孕期检出的畸形包括：胼胝体缺失、Dandy-Walker综合征、叶状全前脑、侧脑室扩张。4例神经管畸形胎儿检测出染色体异常。结论：早孕期超声结构检查对胎儿严重开放性神经管畸形有较高检出率,值得临床推广,部分畸形需至中晚孕期超声检出。部分神经管畸形与染色体异常关联。Objective To evaluate the clinical effects of ultrasonography for structural examination in the diagnosis of fetal brain malformation and neural tube defects（ NTDs） in early pregnancy. Methods A retrospective study was conducted to analyse 6 630 cases taking obstetric examination in Dongguan Maternal and Child Health Hospital from February 2014 to June 2015. The examination included a standardized ultrasound structural examination at 11-13 plus 6 weeks of pregnancy. The autopsied results of the induced fetus in early pregnancy from craniocerebral and neural tube structure malformation were investigated. All the cases were followed up concerning the outcomes and the malformation detection rate was calculated for analysis. Results The detection rates of exencephalus and anencephalus, holoprosencephaly, aphylly-holoprosencephaly, rachischisis,open spina bifida, and meningocele were 100%, 80%, 100%, 42.9%, 50% and 100%, respectively. The malformations which was missed in the early pregnancy but detected in the later gestational ages included ：Dandy-Walker Syndrome, most of the non-open spina bifida, hypoplasia of the corpus callosum, foliaceousholoprosencephaly and ventriculomegaly. Conclusions The structural examination using ultrasonography at early pregnancy is effective in the detection of severe open-neural tube defects. It′ s worth generalizing in the cliical diagnosis but part of fetal malformations still need a further ultrasound examination in the mid-gestation or the later gestation.

关 键 词：早孕期 胎儿神经管畸形 超声检查 染色体异常 

分 类 号：R445.1[医药卫生—影像医学与核医学] R714.5[医药卫生—诊断学]