Dai Li, Zhu Jun, Zhou Guang-xuan, Wu Yan-qiao, Wang Yan-ping, Miao Lei, Liang Juan
National Center for Birth Defects Monitoring, West China Second Hospital, Sichuan University, Chengdu 610041, China.
Zhonghua Fu Chan Ke Za Zhi. 2003 Jan;38(1):17-9.
To investigate the patterns and associated malformations in neural tube defects (NTDs) cases.
From 1987 to 1995, hospital-based cluster sampling method was adopted for collecting data. During that period all live or still births with 28 weeks of gestation or more were assessed within 7 days after delivery.
Three thousand seven hundred and ninety eight syndromic NTDs were identified, among which anencephaly, spina bifida and encephalocele were 997, 2394 and 407 respectively. 51.3% associated abnormalities of NTDs appeared in muscle and skeletal system, 19.6% in face, ear and neck, and 9.3% in urinary-genital system. Congenital talipes equinovarus, cleft lip with cleft palate, gastroschisis, talipes valgus, undescended testicle were frequently combined with NTDs. The most frequent association in schisis type of NTDs was NTDs accompanied by cleft lip with or without cleft palate (67.5%), followed by anencephaly with cleft palate (8.3%) and anencephaly with omphalocele (6.6%). Of all syndromic NTDs, the rate of low birth weight was 36.9%, of perinatal mortality was 71.2% and the ratio 33.1% patients were diagnosed prenatally.
Approximately one third of NTDs may be associated with other system's malformation. Syndromic NTDs has a high perinatal mortality rate and a poor prognosis.
研究神经管缺陷（NTDs）病例的模式及相关畸形。
1987年至1995年，采用基于医院的整群抽样方法收集数据。在此期间，所有妊娠28周及以上的活产或死产在分娩后7天内进行评估。
共识别出3798例综合征性NTDs，其中无脑儿、脊柱裂和脑膨出分别为997例、2394例和407例。NTDs相关异常51.3%出现在肌肉骨骼系统，19.6%出现在面部、耳部和颈部，9.3%出现在泌尿生殖系统。先天性马蹄内翻足、唇腭裂、腹裂、外翻足、隐睾常与NTDs合并。NTDs裂隙型最常见的合并症是伴有或不伴有腭裂的唇裂（67.5%），其次是伴有腭裂的无脑儿（8.3%）和伴有脐膨出的无脑儿（6.6%）。在所有综合征性NTDs中，低出生体重率为36.9%，围产儿死亡率为71.2%，产前诊断率为33.1%。
约三分之一的NTDs可能与其他系统畸形有关。综合征性NTDs围产儿死亡率高，预后差。
