北京地区出生缺陷监测与管理模式研究项目资料分析

目的了解项目地区人群出生缺陷发生情况,探讨北京市出生缺陷监测管理模式。方法按项目要求于2007年10月1日至2008年9月30日对西城区、海淀区和大兴区居住满1年以上的产妇所分娩的婴儿进行出生缺陷监测及生后1年的随访工作。采用发生率描述项目地区出生缺陷发生状况并将人群监测与医院监测出生缺陷发生情况进行比较。结果北京市项目地区出生缺陷发生率为21.11‰,婴儿失访率为10.03%;出生缺陷发生率由怀孕28周至生后7天的14.58‰增加到孕28周至生后1年的21.11‰;人群监测与医院监测出生缺陷发生率及顺位均存在不同。结论延长监测时限,建立适合北京市的出生缺陷监测模式。通过加强北京市妇幼卫生信息化建设,提高北京市出生缺陷的监测质量。     

2007年山西省部分地区出生缺陷人群监测分析

目的了解2007年山西省围产儿出生缺陷发生情况。方法采用以人群为基础的监测方法收集资料,调查对象为监测点内孕28周至产后42天的围产儿。结果2007年全省出生缺陷发生率118.71/万;城镇发生率151.00/万,乡村发生率为95.64/万;男性出生缺陷发生率为117.65/万,女性为114.01/万。前五位缺陷种类依次为：先天性心脏病,多指（趾）,神经管缺陷,总唇裂,先天性脑积水。结论2007年山西省出生缺陷总发生率顺位前五位,与2006年全国监测顺位相同,发生率接近;城镇出生缺陷发生率明显高于乡村,男女发生率无明显差异。     

江西省铅山地区出生缺陷监测结果分析及干预措施探讨

目的分析江西省铅山县出生缺陷的发生情况,为本地区制定出生缺陷预防措施提供科学依据。方法利用妇幼三级网络,采用以人群为基础的流行病学调查方法搜集出生缺陷资料,对2004年1月～2009年12月全县医疗保健单位和县计生服务站在该地区出生的围产儿共20 150例监测数据库资料进行分析。结果活产儿20 150例,围产儿出生缺陷183例,出生缺陷发生率为9.08‰。其前5顺位是先天性心脏病心(先心)、先天性脑积水、多指(趾)、先天性耳聋、唇腭裂。结论加强孕前监测和孕产妇的孕前健康教育,预防为主,提高产前诊断技术,适时终止妊娠,可有效降低出生缺陷的发生率。     

北京地区出生缺陷监测管理模式探讨

目的了解项目地区人群出生缺陷发生情况,探讨北京市出生缺陷监测管理模式。方法按项目要求于2007年10月1日至2008年9月30日对西城区、海淀区和大兴区居住满1年以上的产妇所分娩的婴儿进行出生缺陷监测及生后1年的随访工作。采用发生率描述项目地区出生缺陷发生状况并将人群监测与医院监测出生缺陷发生情况进行比较。结果北京市项目地区0-1岁出生缺陷发生率为21.11‰;人群监测与医院监测出生缺陷发生率及顺位均存在不同;8天-1岁发现的出生缺陷儿占30.96%,其中50%以上病例为先天性心脏病;结论延长监测时限,建立适合北京市的出生缺陷监测模式。通过加强北京市妇幼卫生信息化建设,提高北京市出生缺陷的监测质量。     

江西省2000年～2007年出生缺陷变化趋势分析及对影响因素和预防措施的探讨

目的 分析江西省近8年出生缺陷发生情况、变化趋势及相关影响因素。为卫生行政部门制定出生缺陷干预措施提供依据。方法 对2000年～2007年江西省32所出生缺陷监测医院261008例围产儿进行出生缺陷监测，统计分析出生缺陷发生率，各类出生缺陷的发生率、类别、构成比和相关因素。结果 8年间共监测围产儿261008例，发现出生缺陷儿3553例，发生率为136．1／万，并呈逐年升高趋势，我省高发畸形依次为先天性心脏病、多指（趾）、外耳其他畸形、总唇裂、先天性脑积水。出生缺陷发生率农村（167．4／万）高于城镇（121．7／万），男孩（149．8／万）高于女孩（116／万），产妇年龄中〈20岁组发生率最高，20—30岁组最低，两组比较有统计学意义。结论 做好一级预防工作，从产前-围产保健预防模式向孕前-围孕保健预防模式转变，确定重点保健人群，探索降低出生缺陷、提高出生人口素质的有效途径和方法。     

北京市怀柔区2007年-2011年人群出生缺陷监测与医院出生缺陷监测数据对比分析

目的了解怀柔区2007年至2013年人群出生缺陷监测与医院出生缺陷监测的异同,以便更好的为出生缺陷监测工作的模式提供科学依据。方法对怀柔区2007年至2011年居住在怀柔区人群出生缺陷与医院出生缺陷的资料进行对比、分析。结果 2007年至2011年人群出生缺陷共监测围产儿14 298例,出生缺陷328例,人群出生缺陷发生率为22.94‰;医院出生缺陷共监测围产儿15 326例,出生缺陷321例,出生缺陷发生率为20.94‰。人群出生缺陷发生率略高于医院出生缺陷发生率。人群出生缺陷与医院出生缺陷顺位前五位基本相同,发生率较相近。产后8天至42天发现的出生缺陷情况比较人群监测检出数少于医院监测检出例数。结论继续做好医院监测和人群监测,发挥各自优势,同时不断完善1岁以内出生缺陷监测工作。     

北京市怀柔区1999-2008年出生缺陷监测分析

目的了解本北京市怀柔区十年来围产儿出生缺陷的变化趋势,为今后出生缺陷监测工作的重点提供可靠科学的依据。方法对1998年10月1日至2008年9月30日怀柔区产科医院孕13周至产后7天内的胎儿及新生儿进行出生缺陷监测,并对出生缺陷率、顺位及诊断依据等资料进行分析。结果 (1)十年间共监测到缺陷儿401例,其中围产期缺陷儿286例,出生缺陷平均发生率11.51‰。(2)围产期出生缺陷发生率逐年上升,神经系统畸形发生率有了明显降低。先天性心脏病由1999年的第五位上升到了第一位,多指(趾)畸形1999年至2005年一直居第一位。结论怀柔区出生缺陷发生率升高主要与出生缺陷产前筛查和产前诊断水平提高有关。今后应进一步提高对先天性心脏病的产前筛查和产前诊断水平,做到早期发现,早期诊断,早期干预。继续广泛开展健康教育,普及优生优育知识。     

北京市丰台区1997年-2011年出生缺陷监测数据分析

目的根据1997年-2011年出生缺陷监测上报数据,分析北京市丰台区出生缺陷的发生情况及相关因素,探索降低出生缺陷发生的干预措施。方法对1997年~2011年北京市丰台区三所国家级出生缺陷监测医院上报资料进行统计分析。结果 1997年~2011年丰台区国家级出生缺陷监测医院的出生缺陷发生率为100.94/万,各年出生缺陷发生率呈上升趋势;按照出生缺陷病种分类,发生率位于前三位的出生缺陷分别为多指(趾)、先天性心脏病、外耳畸形;男婴与女婴出生缺陷发生率未见显著性差异;导致出生缺陷的可能影响因素包括分娩年龄、婴儿出生体重、孕周等。结论做好出生缺陷监测工作,加强出生缺陷三级预防是降低出生缺陷发生的必要措施。     

北京市怀柔区2009-2013年出生缺陷监测分析

目的了解怀柔区近5年出生缺陷发生情况及变化趋势,为提高出生人口素质,降低出生缺陷发生率提供科学依据。方法对2009年至2013年在怀柔区助产机构分娩的围产儿及小于28周无论孕周大小诊断的出生缺陷儿进行监测。对近五年总体发生情况、顺位、产前诊断等情况进行回顾性分析。结果（1）五年问围产儿出生缺陷发生率逐年升高,升高的主要原因为先天性心脏病的发生率升高,而先天性心脏病升高的主要原因为监测水平和诊断水平的提高。（2）流动人口出生缺陷发生率由2009年的20.26‰升高到2013年的91.93％0,户籍人口的出生缺陷发生率也由2009年的22.97‰上升到2013年的42.06‰,且除2009年外,2010年至2013年流动人口出生缺陷发生率明显高于户籍人口。（3）近五年出生缺陷顺位变化不大,排在前五位依然为先天性心脏病、副耳畸形、肢体畸形、尿道下裂及血管瘤等。（4）怀柔区近5年神经管畸形发生率逐年降低。由2010年的l.95‰下降到2013年的0.58‰。但是和北京市相比,怀柔区神经管畸形发生率还较高。结论加强出生缺陷的三级预防措施,进一步做好免费发放叶酸工作,提高我区叶酸发放率和依从率,不断降低神经管畸形的发生率;高度关注流动人口的出生缺陷发生状况。     

北京市上地医院围产儿出生缺陷监测结果分析

目的了解北京市上地医院围产儿出生缺陷流行病学特征及相关因素。方法按照中国出生缺陷监测中心1995年制定的出生缺陷诊断和统计标准，对上地医院2006年～2007年的围产儿出生缺陷监测资料进行回顾性分析。结果上地医院2006年～2007年共监测围产儿10956例，检出出生缺陷儿200例，出生缺陷发生总率为182．55／万。发生率在前5位的缺陷类型分别为为先天性心脏病（58．42／万）、外耳其他畸形（33．44／万）、多指／趾（28．29／万）、全唇裂（16．43／万）、尿道下裂（5．48／万）。对2006年～2007年出生缺陷进行比较，P〈0．05，有统计学意义，显示出生缺陷发生率呈现上升趋势。对不同人群特征的出生缺陷发生率进行比较，显示出生缺陷的发生与胎数、婴儿性别、婴儿出生体重、分娩孕周、分娩结局有关（P〈0．05）。结论根据出生缺陷的监测结果，采取综合干预措施，预防出生缺陷。     

Congenital malformations of the central nervous system in spontaneous abortions.

A study of 2620 pregnancies ending in spontaneous abortion revealed a CNS defect in 3.6% of embryos and fetuses, and 3% of all complete conceptuses. The type of malformation observed varied with the gestational age at expulsion, encephaloceles being predominant in earlier specimens, while more typical anencephalus and spina bifida were more common among later abortions. Chromosome abnormalities were found in 40% of abortuses with CNS defects, but were almost entirely confined to those which were still at the embryonic stage of development. 53% of the latter were chromosomally abnormal, which is the same as the proportion found among embryos without a CNS malformation. Using published life-tables of recognized pregnancies it was estimated that the prevalence of anencephalus, spina bifida, or related malformation (other than hydrocephalus), without a chromosome anomaly, is 5.3 per thousand conceptuses at the beginning of the eighth week of gestation. By comparing this with the prevalence in total births, it was further estimated that only 24% of these are born alive, with 54% aborting spontaneously and 22% being stillborn.     

A family study of spina bifida and anencephalus in Belfast, Northern Ireland (1964 to 1968).

The parents of 226 of the 360 patients with anencephalus or spinal bifida or both, born in Belfast 1964 to 1968, were visited to document the occurrence of these malformations among other relatives. The proportions of sibs with anencephalus and spina bifida were 10.41% for spina bifida index patients and 6.4% for anencephalus. For patients born after the index patients, the proportions were 12.19% and 6.35%, respectively. The overall incidence of either malformation among sibs was 8.87%. This estimate is higher than the 4 to 5% commonly reported and is probably related to the specific background of the Northern Ireland population, which is known to have the highest incidence of CNS malformations in the United Kingdom. The substantial size of this risk indicates the importance of amniocentesis for monitoring subsequent pregnancies of women who have had one child with a CNS malformation.     

Congenital malformations in births with orofacial clefts among 3.6 million California births, 1983-1997

Few population-based epidemiologic data are available on malformation phenotypes that co-occur with orofacial clefts. We explored the occurrence of structural congenital malformations in offspring with cleft palate (CP) and in offspring with cleft lip with or without CP (CLP), using data from a population-based active surveillance system. Ascertainment was performed among 3548991 liveborn and 23239 stillborn offspring of California women who delivered in nonmilitary hospitals during the period, 1983-1997. Structural congenital malformations were found in 91888 births. Among them, 2343 had CP and 4072 had CLP. Malformations were grouped according to 3- and 4-digit codes of the British Pediatric Association (BPA). Prevalences of each malformation grouping, defined by these codes, were calculated among: (1). all births with CP; (2). all births with CLP; (3). all births without CP or CLP but with another structural malformation; and (4). all births in the population at risk. These various prevalence measures were the basis of estimating relative risks. Observed relative risks indicated that some phenotypes were more likely and some were less likely to co-occur with either CP or CLP, with relative risks ranging from 0.5 to 2.4. For both CP and CLP, estimated relative risks were highest for malformations involving the respiratory system and lowest for spina bifida. The exclusion of all births (n = 10702) with chromosomal anomalies from comparisons did not materially alter observed relative risk estimates. Computations extended to 4-digit level BPA codes revealed elevated risks for a number of more specific diagnoses seen within the larger (3-digit level) groupings defined as eye, ear, respiratory, upper alimentary tract, and other musculoskeletal anomalies. In this large population-based cohort of infants and fetuses with CLP or CP, we observed several noncleft malformation groupings to be more common and others to be less common in their co-occurrence with orofacial clefts relative to their co-occurrence with any other malformation. These observed patterns tended to be similar for CP and for CLP.     

The sex ratio in spina bifida.

Published reports on the sex ratio of spina bifida have been reviewed. With one exception, there seems to be no evidence of variation in the sex ratio of spina bifida. In particular, unlike anencephaly, the sex ratio of spina bifida seems to be unrelated to the prevalence of the malformation: this (M/(M+F)) is of the order of 0.44 in respect of all spina bifida births (liveborn and stillborn). The sex ratio of spina bifida in Negroes does not seem to differ from that in whites (though the data on this point are not numerous). The exception noted above concerns spina bifida occurrring in twins: these cases are disproportionately often female. The point stands in need of explanation.     

Sib risk of neural tube defect: is prenatal diagnosis indicated in pregnancies following the birth of a hydrocephalic child?

Recurrence frequencies of central nervous system malformations in sibs of probands with anencephalus or spina bifida range between 1% and 7%. The frequency of hydrocephalus among sibs of such probands is low (0.21%) but, nevertheless, is increased 2 to 5-fold when compared to general population frequencies. Anencephalus and spina bifida cystica were observed in 1.65% of sibs of children with hydrocephalus, a 2- to 8-fold increased over the population frequencies. These data indicate that some aetiological factors may be common to all three malformations. The risk figure of 1.65% for anencephalus and spina bifida in sibs born after the birth of a hydrocephalic proband constitutes sufficient indication for prenatal diagnosis by alphafetoprotein determination of the amniotic fluid.     

湖南省2003年-2012年出生缺陷发生率变化趋势分析

目的了解湖南省近十年出生缺陷发生率变化趋势,为湖南省制定出生缺陷干预措施提供参考依据。方法按照卫生部《中国妇幼卫生监测方案》对湖南省53家医院进行围产儿出生缺陷监测,对其十年资料进行统计和分析。结果2003年一2012年湖南省出生缺陷监测医院总共监测714071例围产儿,出生缺陷发生总例数为12861例,发生率最低为2003年124．33／万,最高为2011年227．81／万,合计为180．11／万。出生缺陷发生率呈上升趋势的主要病种有先天性心脏病、外耳其他畸形、肾脏畸形;呈下降趋势的主要有神经管缺陷和先天性脑积水。结论湖南省出生缺陷发生率逐年升高．井．心痛尤为突出：建议加强遗传优生健康教育．加强围产期保健,研究先心病诱发因素,减少缺陷患儿的出生。     

Risk of recurrence after two children with central nervous system malformations in an area of high incidence.

This study was undertaken to provide an estimate of the recurrence risk of central nervous system (CNS) malformation in families with two or more affected children. The hospital records and the records of the Genetic Counseling Clinics were examined for instances where a child born between 1962 to 1973 had spina bifida and anencephalus and was documented as having an affected elder sib; such children were taken as index patients. Parents of 76 families with 89 index patients were interviewed. Fifty-one index patients had younger sibs; of 85 younger sibs, 12 had spina bifida and six anencephalus (1 in 4.7). Little variation was observed in the proportion of subsequent children affected with the type of lesion in the index patient and the affected older sib. Ten index patients with two older affected sibs had 14 subsequent sibs of whom four had a CNS malformation (1 in 3.5). For the purpose of genetic counselling it was suggested that the risk after two and three children with CNS malformations in Northern Ireland was 1 in 5 and 1 in 4, respectively.     

Reduction of birth prevalence rates of neural tube defects after folic acid fortification in Chile

To verify whether the decreasing neural tube defects birth prevalence rates in Chile are due to folic acid fortification or to pre-existing decreasing trends, we performed a population survey using a network of Estudio Colaborativo Latino Americano de Malformaciones Congenitas (ECLAMC, Latin American Collaborative Study of Congenital Malformations) maternity hospitals in Chile, between the years 1982 and 2002. Within each maternity hospital, birth prevalence rates of spina bifida and anencephaly were calculated from two pre-fortification periods (1982-1989 and 1990-2000), and from one fortified period (2001-2002). There was no historical trend for spina bifida birth prevalence rates before folic acid fortification, and there was a 51% (minimum 27%, maximum 66%) decrease in the birth prevalence rates of this anomaly in the fortified period. The relative risks of spina bifida were homogeneous among hospitals in the two period comparisons. There was no historical trend for the birth prevalence of anencephaly comparing the two pre-fortified periods, but the relative risks were heterogeneous among hospitals in this comparison. There was a 42% (minimum 10%, maximum 63%) decrease in the birth prevalence rate of anencephaly in the fortified period as compared with the immediately pre-fortified period, with homogeneous relative risks among hospitals. Within the methodological constraints of this study we conclude that the birth prevalence rates for both spina bifida and anencephaly decreased as a result of folic acid fortification, without interference of decreasing secular trends.     

Spina Bifida and Anencephalus in Greater London

In order to make comparisons with the findings in a high frequency area, South Wales, with those in a low frequency area, south-east England, a birth frequency and family study was made of all births with neural tube malformations (spina bifida cystica, encephalocele, anencephaly, and iniencephaly) in 32 of the 33 London Boroughs over a 3-year period from 1 April 1965 to 31 March 1968. The births were ascertained through local authority registers, stillbirth and infant death certificates, and hospital records. The frequencies found were 1·54 for spina bifida (including encephalocele) and 1·41 for anencephaly (including iniencephaly). This was less than four tenths of the South Wales frequency. Evidence of an excess of winter births was found for both types of malformation, with a peak for conceptions in February, March, and April.     

OEIS complex--a population study

Using a novel method for the analysis of infants with multiple malformations, we investigated the cluster of associated malformations called the OEIS (omphalocele, bladder exstrophy, imperforate anus, spine defect) complex among 5,260 infants with multiple malformations identified in four large registers of congenital malformations, corresponding to 5.84 million births. The existence of the OEIS complex was clearly demonstrated and malformations entering it could be defined. Other than the four classical malformations, omphalocele, bladder exstrophy, imperforate anus, and spine malformation, a strong association with spina bifida and intersex was stressed. Spine malformations occurred not only in the lumbosacral level but also more cranially, and an association also with upper spina bifida could be demonstrated. No specific association with any other malformation, including cardiac defects, was apparent. The OEIS complex is an unusually clearly defined entity among the various nonrandom associations which have been described.