摘要
目的 探讨综合征性神经管缺陷 (neuraltubedefects ,NTDs)的发生形式和伴发畸形谱。方法 中国出生缺陷监测网采用以医院为基础的监测方法 ,收集 1987～ 1995年间 ,孕 2 8周到产后7d ,伴各种出生缺陷的围产儿资料 ,包括活产、死胎和死产。结果 3 798例综合征性NTDs中 ,无脑、脊柱裂和脑膨出分别为 997例、2 3 94例和 40 7例。伴发肌肉、骨骼系统 ,面、耳、颈部和泌尿生殖系统畸形的围产儿分别为 5 1.3 % ,19.6%和 9.3 %。前 5位高发畸形分别是马蹄内翻足、唇腭裂 (唇裂合并腭裂 )、腹裂、足外翻、足月睾丸未降。神经管缺陷的裂联合征 (schisis association)中 ,NTDs合并总唇裂(唇裂 +唇裂合并腭裂 )占 67.5 % ,无脑合并腭裂占 8.3 % ,无脑合并脐膨出占 6.6%。综合征性NTDs患儿低出生体重儿发生率为 3 6.9% ,围产期病死率为 71.2 % ,产前诊断率为 3 3 .1%。结论 约 1/3的NTDs可伴发其他畸形。综合征性NTDs儿病死率高 。
Objective To investigate the patterns and associated malformations in neural tube defects (NTDs) cases. Methods 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. Results Three thousand seven hundred and ninety eight syndromic NTDs were identified, among which anencephaly, spina bifida and encephalocele were 997, 2 394 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%), follwed 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. Conclusions 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.
出处
《中华妇产科杂志》
CAS
CSCD
北大核心
2003年第1期17-19,共3页
Chinese Journal of Obstetrics and Gynecology
