2000～2004年山西省神经管缺陷的动态监测

目的利用2000-01~2004-12期间山西省出生缺陷监测网收集的资料,描述围产儿无脑、脊柱裂和脑膨出3种神经管缺陷(NTDs)的流行病学特征及其动态变化趋势。方法采用以医院为基础的监测方法收集资料。调查对象为孕28周至产后7 d住院分娩的围产儿,包括活产、死胎和死产。结果共收集围产儿130 783例;神经管缺陷儿730例。围产儿NTDs总发生率为49.77/万,其中无脑、脊柱裂和脑膨出的发生率分别为19.19/万、28.67/万和7.95/万。总的NTDs和无脑畸形年度发生率呈下降趋势。男性NTDs发生率为42.60/万,女性为70.05/万,城市为26.03/万,农村为105.83/万,母龄别发生率在<20岁和>35岁组高于其他年龄组。NTDs围产儿早产占65.07%,低出生体重占56.85%,围产期病死率为81.57%。结论山西省围产儿总NTDs发生率及无脑发生率呈下降趋势;无脑及神经管缺陷(NTDS)发生率女性均高于男性;无脑、脊柱裂、脑膨出及神经管缺陷(NTDS)发生率农村高于城市;神经管缺陷儿出生素质差,围产期病死率高,预后不良。加强预防和产前诊断是降低神经管缺陷发生率的有效措施。     

超声诊断胎儿神经管畸形及其相关发病因素分析

目的 通过超声检查和流行病调查了解胎儿神经管畸形分类,分析其相关发病因素.方法 回顾性分析2005-2009年超声筛查确诊为胎儿神经管畸形89例,进行问卷调查,材料汇总,对比分析.结果 胎儿神经管畸形89例,其中脑积水合并脊柱裂 37例,脊柱裂5例,脑膨出 9 例,露脑畸形和无脑儿28例,无脑儿合并脊柱裂10例.神经管...     

神经管缺陷的诊断

神经管缺陷(NTD)是指无脑畸形、开放性脊柱裂以及脑膨出。是最常见又严重的围产期新生儿畸形之一，其中又以无脑和脊柱裂为重要，发病率高，死亡率更高，地理分布差异较大。据我国1986～1987年资料，围产儿出生缺陷发生率为13．01%，其中NTD占全部缺陷儿的21%，居首位。1987年我国人口统计资料出生2258万新生儿，若按上述发生率推算，     

神经管缺陷的诊断

神经管缺陷(NTD)是指无脑畸形、开放性脊柱裂以及脑膨出。是最常见又严重的围产期新生儿畸形之一，其中又以无脑和脊柱裂为重要，发病率高，死亡率更高，地理分布差异较大。据我国1986～1987年资料，围产儿出生缺陷发生率为13．01%，其中NTD占全部缺陷儿的21%，居首位。1987年我国人口统计资料出生2258万新生儿，若按上述发生率推算，     

2013—2018年山西省晋中市出生缺陷发生率分析

<正>出生缺陷是指出生时就存在的人类胚胎在结构和功能(代谢)方面的异常。神经管缺陷是一种常见的先天畸形,主要表现为无脑儿、脑膨出、脑脊液膨出、脊柱裂等,约占所有出生缺陷的30%~([1])。1997年山西省实施"削峰工程"旨在控制新生儿出生缺陷发生,降低神经管缺陷发生率,有效提高出生人口素质。此项目工作已经开展20余年,各级医疗机构工作人员在各级政府的领导和支持下,采取多种有效措施,使出生缺陷发生率呈下降趋势。现将我市2013—2018年出生缺陷数据进行分析总结如下。1对象与方法1.1研究对象:2013—2018年晋中市在医院及家庭分娩的     

叶酸与神经管缺陷

约2%～3%的新生儿会出现严重的先天性畸形,常见的有神经管缺陷(NTDs)、唇腭裂和心脏畸形。神经管缺陷是一组影响神经系统发育的、严重的出生缺陷,包括无脑畸形、脊柱裂和脑膨出。出生记录显示美国每年约有2500名婴儿(或1‰～2‰)发生这些出生缺陷,一些受此影响的妊娠自然流产或选择性流产,95%以上的妇女此前并无家     

神经管缺陷的产前诊断

神经管缺陷(NTD)是指在胚胎时期因某种原因使神经管不能闭合而发生的胎儿畸形，常见的有无脑儿、脊柱裂(可合并脑脊膜膨出)、脑膨出和脑膜膨出等。这种畸形可单独存在或多种畸形并存。我国1987年在945所医院进行出生缺陷监测，NTD的发生率为27A／万，占出生缺陷总数的21％。NTD的发生率北方高于南方，在高发地区(山西)，NTD发生率可达     

经阴道彩超诊断12周以下胎儿神经管畸形的临床研究

目的:探讨经阴道超声在12周以下胎儿神经管畸形的诊断价值.方法:6845例胎龄为孕12周以下孕妇先作常规B超检查,对有胎儿神经管畸形或怀疑有胎儿神经管畸形病例采用经阴道超声进行检查,并作临床追踪对照.结果:6845例胎龄为孕12周以下孕妇检查出胎儿神经管畸形38例,畸形率为0.56%,其中无脑儿20例,脊柱裂10例,无脑儿并脊柱裂5例,脑脊膜膨出3例.结论:经阴道超声用于诊断12周以下胎儿神经管畸形准确率较高,可作为首选的诊断方法.     

超声诊断胎儿神经管畸形的应用价值

胎儿神经管畸形是一组主要包括无脑畸形和脊柱裂、脑膨出等疾病的严重出生缺陷,我国北方高于南方,神经管缺陷是临床最常见的先天畸形,约占全部畸形的1/4,我院查出112例胎儿异常中,神经管畸形发生率最高。因此,产前筛查出胎儿神经管畸形,对临床尽早进行干预,降低围产儿死亡率及避免此类患儿出生都有十分重要的意义。1资料与方法1.1资料2010年1月～2011年11月在我院接受系统性胎儿超声检查及常规胎儿超声检查的孕妇中共检出112例胎儿异常,其中32例神经管畸形,全部病例     

妊娠期产检的注意事项

<正>1唐氏筛查(即血清学产前筛查)注意事项唐氏综合征是由胎儿21号染色体三体引起的出生缺陷,是智力低下最常见的遗传性病因。18三体综合征是由胎儿18号染色体三体引起的出生缺陷,常伴有多种畸形如先天性心脏病等。开放性神经管缺陷是一类中枢神经系统的出生缺陷,属遗传因素与环境因素共同致病,包括无脑儿、开放性脊柱裂,前者为致命性的,可导致流产、死胎或死产;后者可出现瘫痪、大小便     

神经管缺陷重现危险的初步估计

对１９９０年７月至１９９３年６月全国２８省（市、自治区）（天津、浙江未参加）２３３所医院住院分娩，且分娩神经管缺陷儿的产妇２１５９例进行回顾性调查。结果发现：神经管缺陷的重现率为６．８６％；神经管缺陷重现率与畸形率密切相关，畸形率高的地区，重现率也高，全国神经管缺陷的高发区的重现率最高，为８．３２％，中发区为４．５０％，低发区为３．７０％；神经管缺陷的重现以出现相同的畸形的机率最大。     

Prevalence and prenatal diagnosis of neural tube defects in Nova Scotia in 1980-84.

A survey of the records of all hospitals with obstetric services in Nova Scotia revealed that during 1980-84 there were 122 pregnancies involving a neural tube defect. The mean rate was 2/1000 births. Of the affected fetuses or infants 54% had spina bifida, 35% had anencephaly and 11% had encephalocele. The records showed that in the early part of the period studied at least one prenatal ultrasonographic examination had been performed in 60% of the pregnancies; in 1984 the rate was 74%. When examinations done before 16 weeks' gestation were excluded, the overall detection rates at the first ultrasonographic examination were 100% for anencephaly and 73% for spina bifida and encephalocele; the rates improved toward the end of the study period.     

Epidemiology of neural tube defects in China

During a period of 12 months (Oct. 1986 to Sep. 1987), 1,243,284 live and still births from 28 weeks of gestation to a period within 7 days after delivery were monitored in 945 hospitals of 29 provinces, cities and autonomous regions of China. A total of 3,404 cases of neural tube defects were recorded, among which there were 1,891 cases of anencephaly (55.6%), 1,050 cases of spina bifida (30.9%) and 463 cases of encephalocele (13.6%). The incidence of neural tube defects in China varied from 6.6 to 105.5 with a mean of 27.4 per 10,000. A female preponderance (35.7 per 10,000) over the male (19.2 per 10,000) was noted (P less than 0.01). The incidence of neural tube defects in the rural area (51.7 per 10,000) is higher than that in the urban area (15.5 per 10,000), (P less than 0.01).     

Results and benefits of a maternal serum alpha-fetoprotein screening program

Maternal serum alpha-fetoprotein (MSAFP) screening was offered in a private suburban practice to 21,000 nondiabetic and 442 diabetic women with apparently normal pregnancies. Using 2.5 or greater multiples of the median as the normal upper limit, 249 (1.2%) had a raised MSAFP level. There were 25 neural tube defects (NTDs) (1.2/1,000 births); 18 were detected by screening and two by ultrasound scanning. Three had closed spina bifida lesions. Two had anencephaly with normal MSAFP levels, but were studied at more than 24 weeks' gestation. An additional 13 with raised MSAFP levels had other congenital defects. One in 400 women screened had a recommended amniocentesis; 26.4% of them had a fetus with an NTD or major malformation. Our detection efficiency before 24 weeks' gestation for anencephaly was 85.7% (12/14), 62.5% (5/8) for open and closed spina bifida, and 1/1 for encephalocele. A raised MSAFP level occurred in ten (2.3%) of the 442 diabetic women, four (0.9%) of whom had a fetus with an open NTS. A screening program should be established only where there is linked excellent interdisciplinary support among obstetrician, laboratory, clinical geneticist, ultrasonographer, and an identified program coordinator.     

Birth prevalence and recurrence rates of neural tube defects in southern Alberta in 1970-81.

Given the observed variation in birth prevalence and recurrence rates of neural tube defects, it is important to obtain such data specific to a given locality for research and genetic counseling purposes. A review of hospital medical charts, the patient lists of the Medical Genetics and Myelomeningocele clinics at Alberta Children's Hospital and data from the Canadian Congenital Anomalies Surveillance System revealed the annual birth prevalence rate of neural tube defects in southern Alberta in 1970-81 to be 1.62/1000 total births. This figure suggests southern Alberta to be a low-frequency area. There was no significant variation in the annual rates of spina bifida, encephalocele or all neural tube defects combined over the study period. A significant linear decline in the frequency of births of anencephalic infants, however, was noted (p = 0.025). Information on the total reproductive history of the mothers revealed that the empiric risk of recurrence of a neural tube defect was 2.2%, and the risk to all siblings was estimated to be 2.3%. In future prevalence studies multiple sources of case ascertainment should be used, including data on pregnancies terminated because of a fetal neural tube defect.     

2158例神经管缺陷儿的产前B型超声波诊断分析

回顾性分析１９９０～１９９３年全国２８省、市、自治区２３３所医院,住院分娩的孕满２８周的２１５８例神经管缺陷儿的产前诊断情况,了解我国神经管缺陷儿产前Ｂ型超声波诊断情况。结果显示：我国神经管缺陷产前诊断的比例为６１．８％,产前Ｂ型超声波诊断的比例为５６．５％,其中无脑畸形、脑膜脑膨出、脊髓外翻的产前Ｂ型超声波诊断比例分别为６６．７％、６２．５％、５２．５％。胸段（４６．４％）、腰段（４３．４％）的     

Impact of folic acid fortification of the US food supply on the occurrence of neural tube defects.

CONTEXT: Daily consumption of 400 microg of folic acid before conception and during early pregnancy dramatically reduces the occurrence of neural tube defects (NTDs). Before food fortification, however, only an estimated 29% of US reproductive-aged women were taking a supplement containing 400 microg of folic acid daily. The US Food and Drug Administration authorized addition of folic acid to enriched grain products in March 1996, with compliance mandatory by January 1998. OBJECTIVE: To evaluate the impact of food fortification with folic acid on NTD birth prevalence. DESIGN, SETTING, AND POPULATION: National study of birth certificate data for live births to women in 45 US states and Washington, DC, between January 1990 and December 1999. MAIN OUTCOME MEASURE: Birth certificate reports of spina bifida and anencephaly before fortification (October 1995 through December 1996) compared with after mandatory fortification (October 1998 through December 1999). RESULTS: The birth prevalence of NTDs reported on birth certificates decreased from 37.8 per 100 000 live births before fortification to 30.5 per 100 000 live births conceived after mandatory folic acid fortification, representing a 19% decline (prevalence ratio [PR], 0.81; 95% confidence interval [CI], 0.75-0.87). During the same period, NTD birth prevalence declined from 53.4 per 100 000 to 46.5 per 100 000 (PR, 0.87; 95% CI, 0.64-1.18) for women who received only third-trimester or no prenatal care. CONCLUSIONS: A 19% reduction in NTD birth prevalence occurred following folic acid fortification of the US food supply. However, factors other than fortification may have contributed to this decline.     

2158 例神经管缺陷儿的产前B型超声波诊断分析

回顾性分析1990～1993年全国28省、市、自治区233所医院,住院分娩的孕满28周的2158例神经管缺陷儿的产前诊断情况,了解我国神经管缺陷儿产前B型超声波诊断情况.结果显示:我国神经管缺陷产前诊断的比例为61.8%,产前B型超声波诊断的比例为56.5%,其中无脑畸形、脑膜脑膨出、脊髓外翻的产前B型超声波诊断比例分别为66.7% 、62.5%、52.5%.胸段(46.4%)、腰段(43.4%)的脊柱裂产前B型超声波诊断的病例较颈段 (35.5%)、骶段(31.7%)高(P<0.05).省级、市级、县级及部队工矿医院神经管缺陷的产前B型超声波诊断比例分别为55.7%、59.4%、49.0%、57.2%.1991～1993年神经管缺陷产前B型超声波诊断比例分别为53.5%、55.8%、60.7%、54.7%.无脑畸形、脑膜脑膨出、脊髓外翻产前B型超声波诊断的比例较高.     

Structural birth defects associated with neural tube defects in Hawai'i from 1986 until 2001

Using birth defects registry data, this study identified birth defects associated with anencephaly, spina bifida, and encephalocele. Musculoskeletal defects were associated with anencephaly; central nervous system defects, gastrointestinal atresia/stenosis, genitourinary system defects, and musculoskeletal system defects with spina bifida; and central nervous system defects, respiratory defects, oral clefts, genitourinary system defects, and musculoskeletal system defects with encephalocele.