2010年长春市出生缺陷监测资料分析

目的:对长春地区2010年围产期出生缺陷的发生率及各类出生缺陷顺位等因素的分析,提出婚(孕)前、围产期干预措施,提高产前筛查及产前诊断技术,降低出生缺陷的发生率,提高人口素质。方法:长春地区11个县(市)区按国家统一要求,填报出生缺陷儿登记卡及围产儿季报表,专人逐项填写,逐级上报长春市妇幼保健所。结果:2010年出生缺陷发生率(99.13/万)高于2009年(97.32/万)。城市的出生缺陷发生率(129.47/万)超过农村的出生缺陷发生率(64.47/万);围产儿出生缺陷的发生率男性(113.39/万)高于女性(80.87/万)。孕母年龄30岁以上(109.74/万)高于其他年龄组。2008年～2010年围产期的前六位出生缺陷顺位:总唇裂连续三年占首位,先天性心脏病发生率有上升趋势,从2008年第五位上升到2010年第三位。结论:我市的围产期出生缺陷的发生率有下降的趋势。但从上述数字中仍可看出,降低围产期出生缺陷发生率的任务仍然十分艰巨,加强对出生缺陷儿的监测,为长春市妇幼保健所进一步制定出生缺陷防治措施提供科学依据。     

扬州市683例出生缺陷临床分析

目的探讨开展产前筛查、遗传咨询、超声产前检查和羊水穿刺等干预措施后,活产婴儿中出生缺陷儿的发生情况。方法回顾性分析2008年10月1日至2011年9月30日江苏省扬州市123家助产机构上报的妊娠28周及以上683例缺陷儿病例登记卡资料。结果同期扬州市共出生≥妊娠28周围生儿103913例,其中出生缺陷儿683例,围生儿出生缺陷发生率为6．57‰。683例出生缺陷儿中,行产前诊断后,经家属及孕妇本人要求,98例行治疗性引产,足月活产出生缺陷儿585例,足月活产出生缺陷发生率为5．62‰,与本市围生儿出生缺陷发生率（6．57‰）相比,差异有统计学意义（P〈O．05）。其中以先天性心脏病下降幅度最大（O．41‰）,其次为唇裂（O．2‰）、先天性脑积水（O．18‰）和直肠肛门闭锁（O．12‰）（P〈0．05）。结论产前筛查、产前诊断可发现胎儿患有严重出生缺陷性疾病,为孕产妇提供终止病理妊娠的机会,是提高出生人口质量的重要措施之一。     

出生缺陷围产儿119例临床分析

目的 了解出生缺陷围产儿的发生率、发生系统及缺陷分布情况，为临床预防和治疗提供依据。方法 回顾性分析1997～2004年我院产科分娩的7720例围产儿资料，对其中119例出生缺陷围产儿逐一进行分类和统计学分析。结果 8年间出生缺陷平均发生率为15．41‰，2001～2004年间发生率为21．65‰，1997～2000年间发生率为10．65‰，两个时期比较，差异有显著性（P〈0．05）。前3位出生缺陷依次为心血管系统缺陷、多器官畸形、四肢缺陷。缺陷儿中孕妇有各种合并症者52例，占43．70％，存在可能致畸因素者75例，占63．03％。结论 孕早期是预防出生缺陷的关键，加强对高危妊娠的监测和产前诊断则是预防的重要手段，先天性心脏病的发生呈上升趋势，目前已位居我院出生缺陷的首位，应加强对其诊断及预防措施的研究。     

百色地区妊娠期糖尿病调查结果分析

目的了解广西百色地区妊娠期糖尿病（GDM）的发生率及分布情况。方法采用回顾性分析方法，对2002年1月～2004年6月在广西百色地区人民医院妇产科行产前检查GDM筛查的2142例孕妇的临床资料进行分析。结果百色地区GDM的发生率为2．43％；孕前体重指数（BMI）≥25kg／m^2者GDM的发病率明显高于〈25kg／m^2者，两组差异有显著性（P〈0．01）；GDM的发生率随年龄的增长而增加，30岁以上组，尤其35岁以上组GDM的发生率显著高于30岁以下组（P〈0．01）；GDM的分布特点是城市高于农村、脑力劳动者高于体力劳动者（P〈0．05或P〈0．01）；而不同民族间GDM的患病率比较，差异无显著性（P〉0．05）。结论对育龄妇女应于孕前即加强GDM预防知识的宣教，不提倡过晚生育，提倡孕前肥胖者适当减肥降低体重指数后再受孕，孕期适当运动，合理饮食以减少GDM的发生。     

试管婴儿的出生缺陷及围产期情况研究

目的 探讨试管婴儿发生先天畸形、围产期合并症及死亡的危险性。方法 对1994年7月至2003年10月在我院接受IVF-ET术的156例母亲所生活产婴儿211例（试管婴儿组），及同期分娩的与母亲年龄及分娩时间相当的213例正常受孕母亲所生婴儿218例（对照组）进行分析，比较两组的母亲妊娠合并症及是否多胎、胎儿窘迫和出生窒息、出生缺陷、生后合并症、转儿科住院及存活情况。结果 试管婴儿组的多胎妊娠、早产及剖宫产率均显著高于对照组，分别为37．2％和2．3％，37．2％和8．5％、97．0％和71．8％（P均〈0．01）；妊高征、早期先兆流产率显著高于对照组，分别为22．4％和10．8％（P〈0．01），4．5％和0％（P〈0．01）；对照组胎儿窘迫的发生率显著高于试管婴儿组，14．6％和4．5％。试管婴儿组心脏畸形率和畸形总数皆高于对照组，但未显示出统计学差异。结论 试管婴儿的多胎率明显增高，由此造成的相关的围产期合并症发牛率也随之增高。     

545例新生儿窒息回顾性分析

目的 了解新生儿窒息的发生率，高危因素及其并发症发生情况，为防治新生儿窒息提供经验。方法 回顾性分析45337例活产新生儿中545例窒息新生儿的临床资料，分析新生儿窒息发生率及其影响因素。结果 从2001年至2006年，新生儿窒息发生率从2．13％（113／5298）降至0．35％（37／10466）（χ^2=97．560，P〈0．01）。男婴窒息发生率为1．43％（503／33723），明显高于女婴的0．95％（208／21834），差异有统计学意义（χ^2=22．070，P〈0．01）。产钳助产组的窒息发生率明显高于剖官产组及自然分娩组，差异有统计学意义（χ^2=114．835，P〈0．01）。早产儿窒息发生率为3．46％（70／2023），明显高于足月儿窒息发生率（1．09％，475／43314），差异有统计学意义（χ^2=90．911，P〈0．01）。自然分娩活婴中应用无痛分娩者窒息发生率为1．61％（111／6895），明显高于非无痛分娩儿的窒息发生率（1．09％，216／19749），差异有统计学意义（χ^2=11．231，P〈0．01）。在545例窒息新生儿中，引起窒息的前七位影响因素依次为胎儿窘迫、脐带异常、胎膜早破、母妊娠及内科合并症、早产、巨大儿及胎盘异常。新生儿并发症依次为肝功能受损、代谢及电解质紊乱、呼吸系统并发症、中枢神经系统损害、心肌损害、肾功能异常。结论重视新生儿窒息相关高危因素，选择合适的分娩方式，积极防治窒息后的器官功能损伤，加强新生儿窒息复苏培训及产儿合作，是降低新生儿窒息发生率和病死率的有效手段。     

妊娠合并糖代谢异常孕妇的妊娠结局分析

目的 探讨妊娠合并糖代谢异常孕妇的发生率变化趋势及经规范治疗后的不同类型糖代谢异常的母、儿结局。方法 1995年1月至2004年12月,在北京大学第一医院妇产科分娩的妊娠合并糖代谢异常患者共1490例,按照糖代谢异常情况分为糖尿病合并妊娠79例（DM组）,妊娠期糖尿病777例（GDM组,其中A1型355例,A2型316例,分型不明106例）,妊娠期糖耐量异常634例（GIGT组）。采用回顾性分析的方法对3组的母、儿结局进行分析,并对糖代谢异常孕妇的发生率进行统计。同期分娩的19013例糖代谢正常孕妇作为对照组。结果 （1）妊娠合并糖代谢异常的总发生率为7．3％,呈逐年上升的趋势。第一阶段即1995年1月至1999年12月,发生率呈缓慢增长,平均为4．3％（376／8739）;第二阶段即2000年1月至2001年12月,发生率呈快速增长趋势,平均为10．8％（445／4133）;第三阶段为2002年1月至2004年12月,基本稳定于8．9％（678／7640）。（2）3组糖代谢异常孕妇总的巨大胎儿、子痫前期、早产的发生率分别为12．1％（180／1490）、9．5％（141／1490）和9．4％（140／1490）,均明显高于对照组孕妇（P〈0．01）。3组糖代谢异常孕妇子痫前期、早产、宫内感染、羊水过多、酮症的发生率相互比较,差异有统计学意义（P〈0．05）,而3组的巨大儿发生率比较,差异无统计学意义（P〉0．05）。（3）3组糖代谢异常孕妇围产儿总死亡率为1．19％（18／1513）,其中,DM组为4．93％（4／81）,显著高于GDM组的1．14％（9／787）和GIGT组的0．78％（5／645）（P〈0．05）。而且,DM组新生儿窒息、低血糖及转诊的发生率均高于GDM组和GIGT组（P〈0．01）。（4）3组1505例新生儿中仅有0．6％（9／1505）发生呼吸窘迫综合征（RDS）,均发生于早产儿。结论 （1）妊娠合并糖代谢异常的发生率逐年上升,应重视提高对孕期糖尿病的筛查、诊断和处理。（2）经过孕期规范化管理,巨大儿、子痫前期和早产仍是糖代谢异常孕妇最常见的并发症,DM孕妇的母、儿合并症显著高于GDM和GIGT孕妇,今后应进一步加强该类型糖尿病孕妇管理。（3）新生儿RDS已不再是新生儿的主要合并症。     

不同分娩方式对低危孕产妇分娩结局及卫生经济学指标的影响

目的探讨不同分娩方式对低危孕产妇分娩结局及卫生经济学指标的影响。方法对2002年9月至2007年4月北京协和医院分娩的3751例孕37-41周^＋6的低危孕产妇的资料进行回顾性分析,按分娩的干预方式不同分为3组：择期引产组（包括药物及手术引产）501例、择期剖宫产组1634例和自然临产组1616例,分别对3组孕产妇的一般情况及住院费用以及分娩结局（产后出血、产褥病率、尿潴留、输血情况、切口愈合情况、产时副损伤）、新生儿Apgar评分情况等进行统计比较。结果（1）一般情况分析：自然临产组孕产妇住院天数（4．8d）与择期引产组（6．3d）及择期剖宫产组（6．3d）比较,差异有统计学意义（P〈0．01）;择期剖宫产组孕产妇住院费用（3472元）明显高于择期引产组（3201元）及自然临产组（2293元）,分别比较,差异有统计学意义（P〈0．01）,尤其是择期引产组中的剖宫产患者住院费用明显高于择期剖宫产组及自然临产组中的剖宫产患者,分别比较,差异均有统计学意义（P〈0．01）。（2）产时及产后并发症总发生率：孕产妇产时及产后并发症总发生率分别是择期引产组为12．4％、择期剖宫产组为0．9％,自然临产组为6．8％。（3）产后出血（≥500ml）发生率：择期引产组、择期剖宫产组和自然临产组分别为3．0％（15／501）、0．6％（9／1634）和1．2％（19／1616）,3组分别比较,差异有统计学意义（P〈0．01）。（4）尿潴留发生率：择期引产组、择期剖宫产组和自然临产组分别为4．6％（23／501）、0和3．3％（54／1616）,择期剖宫产组尿潴留发生率低于择期引产组与自然临产组（P〈0．01）,择期引产组与自然临产组比较,差异无统计学意义（P〉0．01）。（5）有无分娩中或产后输血：择期引产组、择期剖宫产组和自然临产组率孕产妇有输血者分别为2．0％（10／501）、0．1％（1／1634）和0．4％（6／1616）,3组分别比较,差异有统计学意义（P〈0．01）。（6）产时副损伤：择期引产组、择期剖宫产组和自然临产组产时副损伤发生率分别为0．6％（3／501）、0和0．4％（7／1616）,3组分别比较,择期剖宫产组低于其他两组（P〈0．01）,择期引产组与自然临产组比较,差异无统计学意义（P〉0．01）。（7）切口延期愈合：择期引产组、择期剖宫产组和自然临产组分别为0．8％（4／501）、0和0．2％（4／1616）,3组分别比较,差异有统计学意义（P〈0．01）。（8）产褥病率：3组间相互比较,差别无统计学意义（P〉0．01）。（9）新生儿窒息发生率：择期引产组、择期剖宫产组和自然临产组分别为1．2％（6／501）、0．1％（1／1634）和1．0％（17／1616）,择期剖宫产组与其他两组分别比较,差异均有统计学意义（P〈0．01）,择期引产组与自然临产组比较,差异无统计学意义（P〉0．01）。结论择期引产会增加孕产妇产后出血、分娩中或产后输血的机会,且没有降低产妇尿潴留、新生儿窒息的发生率;择期剖宫产是相对安全的分娩方式,对孕产妇分娩并发症的发生没有不良影响,但会明显增加住院费用。     

产后抑郁症与雌激素及单胺递质水平的相关性研究

目的探讨雌二醇及单胺递质——5羟色胺、多巴胺水平与产后抑郁症的关系。方法对342例产后42d内的产妇,应用爱丁堡产后抑郁量表（EPDS）、Beck抑郁量表（BDI）、一般健康问卷（GHQ）进行评定。以EPDS总分≥13分为产后抑郁症诊断标准,并分为抑郁症组与正常组,应用放射免疫法测定两组妇女血浆雌二醇和5羟色胺、多巴胺水平。结果（1）发生率：产后抑郁症发生率为16．7％（57／342）。发生率最高的年龄段为35岁以上（22．2％）;23岁以下发生率最低（12．5％）,两者比较,差异有统计学意义（P〈0．01）。本科及以上学历的发生率较高,为21．3％,文化程度为大专及中专者发生率仅7．9％,两者比较,差异有统计学意义（P〈0．01）。（2）生物学指标测定：抑郁症组妇女雌二醇水平为（64．39±0．22）pmol／L,明显低于正常组的（126．18±0．47）pmol／L,两组比较,差异有统计学意义（P〈0．01）;抑郁症组妇女5羟色胺水平为（1．09±0．21）μmol／L,明显低于正常组的（2．67±0．36）μmol／L,两组比较,差异有统计学意义（P〈0．01）;抑郁症组妇女多巴胺水平为（5．21±0．54）μmol／L,明显高于正常组的（3．16±0．98）μmol／L,两组比较,差异有统计学意义（P〈0．01）。（3）雌二醇水平与EPDS、BDI、GHQ量表分值呈负相关（相关系数分别为-0．53,-0．76,-0．35;P〈0．05）,即雌二醇水平越低,产后EPDS、BDI、GHQ量表分值越高;5羟色胺水平与EPDS、BDI、GHQ量表分值呈负相关（相关系数分别为-0．18,-0．28,-0．11;P〈0．05）,即5羟色胺水平越低,产后EPDS、BDI、GHQ量表分值越高;多巴胺水平与EPDS、BDI量表分值呈正相关,与GHQ量表分值呈无相关性（相关系数分别为0．12,0．07,0．00;P〉0．05）。结论EPDS、BDI、GHQ量表评定可作为筛选产后抑郁症的依据,雌二醇及5羟色胺、多巴胺水平的测定可为产后抑郁症的诊断提供客观的生物学指标。     

慢性高血压合并妊娠患者的母儿结局及其影响因素

目的通过分析慢性高血压合并妊娠患者的母儿结局,探讨导致母儿不良预后的高危因素。方法2000年1月至2005年12月北京大学第一医院分娩产妇14127例,其中慢性高血压合并妊娠患者121例,分为慢性高血压并发子痫前期组（PE组,64例）和未并发子痫前期组（N-PE组,57例）,对两组患者的母儿结局进行分析,找出导致母儿不良预后的高危因素。结果（1）慢性高血压合并妊娠的发病率为0．86％（121／14127）。（2）胎盘早剥、肺水肿和视网膜病变的发生率：PE组分别为16％（10／64）、11％（7／64）和41％（26／64）,N-PE组分别为2％（1／57）、0和16％（9／57）,两组分别比较,差异均有统计学意义（P〈0．05）。（3）早产率和〈32周的早产率：PE组分别为55％（35／64）和27％（17／64）,N—PE组分别为16％（9／57）和2％（1／57）,两组分别比较,差异均有统计学意义（P〈0．01）。（4）小于胎龄儿（SGA）发生率：PE组为31％（20／64）,N-PE组为7％（4／57）,两组比较。差异有统计学意义（P〈0．01）。（5）围产儿病死率和新生儿转重症监护室的发生率：PE组分别为11％（7／64）和33％（21／64）,N-PE组分别为0和5％（3／57）,两组分别比较,差异有统计学意义（P〈0．01）。（6）单因素分析表明,慢性高血压病史≥4年、未系统治疗、未定期产前检查和有子痫前期病史等是影响慢性高血压并发子痫前期母儿结局的高危因素（P〈0．05）。而多因素logistic回归分析表明,只有慢性高血压病史≥4年是影响慢性高血压合并子痫前期母儿结局的独立危险因素（P〈0．05）。结论慢性高血压合并子痫前期患者的母儿病率和围产儿病死率明显高于未合并子痫前期者。慢性高血压病史≥4年是导致慢性高血压合并子痫前期的独立危险因素。     

出生缺陷影响因素的病例对照研究

目的 探讨出牛缺陷的影响因素.方法 2009年4月1日-2010年3月31日,选择在青岛市妇女儿童医疗保健中心、青岛大学医学院附属医院、青岛市市立医院等75家医疗保健机构、孕龄为13周至产后7 d内发现的缺陷儿为出生缺陷组;选取同期无出生缺陷的健康新生儿作为对照组.采用病例对照研究方法,利用出生缺陷三级监测网络信息,以专门设计的出生缺陷影响因素病例对照调查表,对两组胎婴儿的父母进行问卷调查.结果 (1)青岛市妇女儿童医疗保健中心等75家医疗保健机构分娩围产儿数77 231例,其中分娩围产期出生缺陷儿466例,围产儿出生缺陷发生率为60.34/万.前6位的出生缺陷病因依次是先天性心脏病112例、总唇裂(唇裂、唇裂合并腭裂)85例、多指(趾)53例、神经管畸形38例、先天性脑积水37例、肢体短缩28例,共计353例,占全部出生缺陷儿的54.48%(353/648).(2)出生缺陷组母亲的大专及以上文化程度(25.6%)低于对照组(30.0%),两组比较,差异有统计学意义(P<0.05).(3)出生缺陷组中父母经常被动吸烟、经常饮酒、饲养宠物的比例高于对照组,两组比较,差异有统计学意义(P<0.05).(4)出生缺陷组母亲孕期有害化学物质及有害物理因素接触率(分别为13.9%及20.5%)与对照组(分别为1.1%及11.7%)比较,差异有统计学意义(P<0.01).出生缺陷组母亲孕期患感冒(34.3%)、发热(13.1%)及服用药物(33.8%)的发生率高于对照组(分别为13.5%、1.5%及9.9%),两组比较,差异有统计学意义(P<0.01).出生缺陷组母亲孕期有不良精神因素刺激的发生率(11.3%)高于对照组(1.4%),两组比较,差异有统计学意义(P<0.01).(5)出生缺陷组中有家族遗传病史者有19例(2.9%,19/648),对照组中无.两组比较,差异有统计学意义(P<0.01).出牛缺陷组中母亲有异常生育史者有89例(13.7%,89/648),对照组有31例(4.8%,31/650).两组比较,差异有统计学意义(P<0.01).(6)多因素条件logistic回归分析显示,母亲孕期接触有害化学物质(OR=13.46)、孕期患病(OR=3.37)、孕期服药(OR=2.20)、不良精神凶素刺激(OR=5.44)、孕期挑食与偏食(OR=1.90)、孕期贫血(OR=1.52)、多胎(OR=4.40)及父亲饮酒(OR=1.55)是出生缺陷发生的主要危险因素,而孕期补充钙、铁等微量元素及营养素是保护性因素(OR=0.45).结论 (1)主要出生缺陷疾病依次是先天性心脏病、唇裂、多指(趾)、神经管畸形、先天性脑积水及肢体短缩.(2)母亲孕期接触有害化学物质、孕期患病、孕期服药、不良精神因素刺激、孕期挑食与偏食、孕期贫血、多胎及父亲饮酒是出生缺陷发生的主要危险因素;而孕期补充钙、铁等微量元素及营养素是保护性凶素.(3)减少和控制孕期主要危险因素是预防出生缺陷的重要环节.

Abstract：

Objective To investigate the influence factors of birth defects. Methods The congenital malformational fetuses born from 13 week of gestation to 7 days after birth were selected as the study group between April 1st, 2009 and March 31st, 2010. The health born fetuses were set as control in the same period. Case-control and the three-level of monitor network of birth defects were used in the study in the participating 75 hospitals (Qingdao Women and Children's Medical Center, Affiliated Hospital of Medical College Qingdao University, Qingdao Municipal Hospital, etc.) . The study and control group's parents were interviewed by an uniformed questionnaire which was designed specially with influence factors of birth defects. Results (1) There are 466 congenital malformational fetuses in the total of 77 231 fetuses collected in 75 hospitals. The congenital malformational rate accounts for about 6. 034‰. The top six defect diseases were congenital heart disease (112 cases) , total harelip (cleft lip; cleft lip with palate; 85 cases) ,polydactyly (53 cases) , neural tube defects (38 cases) , congenital hydrocephalus (37 cases) and limb reduction defect (27 cases) in turn, which amounts to 353 cases (54.48% , 353/648). (2) Their mother education level in the birth-defect group (25. 6%) were significantly lower than that in control group (30. 0% , P < 0. 05). (3) The rate of passive smoking, drinking, raising pets of the parents in birth-defect group were significantly higher than that in control group (P < 0. 05). (4) The rate of exposure to harmful chemical and physical factors of mothers in birth defects group (13.9% and 20. 5% , respectively) was higher than that in control group (1.1% and 11.7% , respectively) , the difference between which were significant (P < 0. 01) . The rate of disease (34. 3%) , fever (13. 1%) , taking drugs (33. 8%) in pregnancy period in birth defect group were higher than that in control group (13. 5% , 1.5% and 9. 9% ,respectively) , the difference between which were significant (P <0. 01). The rate of bad moral irritation to the mother in pregnancy in birth defect group (11. 3%) was significantly higher than that in control group (1.4% , P<0.01). (5) There were 19 cases (2.9% , 19/648) with family heredity medical history in birth defect group, but there were none in the control group, the difference between which were significant (P<0. 01). There were 89 cases (13.7% , 89/648) with unusual birth history of their mothers in birth defect group, but there were 31 cases (4. 8% , 31/650) in control group, the difference between which were significant (P<0. 01). (6) Conditional Logistic Regression model was used for univalent and multivariate analysis. The results showed that main influence factors were identified as having important effect on birth defects, including mothers' exposure to harmful chemical factors (OR=13. 46) , disease (OR=3. 37) ,taking drugs (OR=2. 20) , exposure to bad moral irritation (OR=5. 44) , food-choosy (OR=1. 90) ,anemia (OR=1. 52) in gestational period, polyembryony (OR=4. 40) , father drinking (OR=1. 55) .While it was protective factors to supplement microelements such as the calcium iron and nutrient, etc. in pregnancy period (OR=0. 45). Conclusions First, the main birth defects were congenital heart disease, total harelip (cleft lip; cleft lip with palate) , polydactyly, neural tube defects, congenital hydrocephalus and limb reduction defect in turn. Second, the main influence factors identified as having important effect on birth defects were mothers' exposure to harmful chemical factors, ill, taking drugs, exposure to bad moral irritation, food-choosy, anemia in gestational period, polyembryony, father drinking. But it is protective factors to supplement microelements such as the calcium iron and nutrient, etc. in pregnancy period. Finally, it is the important part to prevent the birth defects by reducing and controlling dangerous factors in pregnancy period.     

Birth defects data from surveillance hospitals in Dalian city,China, 2006–2010

Objective: The objective of this study is to disclose characteristics of birth defects in perinatal infants in Dalian and provide an epidemiological basis for controlling birth defects.

Methods: Data used in this study were collected from surveillance hospitals in Dalian during 2006–2010. Comparison analysis and trend analysis were conducted by performing Chi-square tests.

Results: The perinatal prevalence of birth defects from 2006 to 2010 was 101.14 per 10?000 live births and was decreased by about 29% from 115.49 per 10?000 live births in 2006 to 81.16 per 10?000 live births in 2010. The prevalence in urban was higher than that in rural areas significantly. The three leading birth defects were congenital heart disease, cleft lip and/or palate, and polydactyly or syndactyly. About 572 cases identified by antenatal diagnosis were terminated pregnancy before 28 weeks of gestation, so the prevalence of birth defects would decrease from 126.29/10?000 to 101.14/10?000.

Conclusions: Dalian has experienced a decreasing temporal trend of birth defects’ prevalence; however, it is still confronted with the challenge to reduce the prevalence of birth defects. Congenital heart diseases are the focus to prevent birth defects. It is necessary to keep the surveillance system function properly, provide preconception health care service extensively, and improve the ability of prenatal diagnosis.     

上海市10年出生缺陷监测情况分析

目的 了解近10年来上海市出生缺陷的发生、消长趋势及存在的问题,为采取相应的干预措施提供依据。方法 采用回顾性调查方法,以无脑儿、脑积水、脊柱裂、脑膨出、腹裂和联体双胎6种致死率高、伤残性大且孕中期大多可通过B超发现的主要形态畸形及其他畸形,进行专题回顾性个案调查。结果 上海市近10年出生缺陷发生率为8.42‰,前3位依次为先心病、多指和唇腭裂。与全国相比除先心病、21-三体、尿道下裂、唇裂、腭裂和小耳的发生率高于全国水平外,其余都较低。在198例21-三体中,产妇35岁以上者占34.34％;主要形态畸形的产前确诊率为60.64％,平均确诊时间在孕30周以上。所有出生缺陷儿的围产期死亡率为23.27％。结论 上海市出生缺陷发生率低于全国水平,但产前诊断的覆盖率和质量还需提高。     

Epidemiologie von Fehlbildungen

The prevalence rates of congenital birth defects in Germany are useful for assessing the general background risk of having a child with a birth defect. At present, the risk of being born with a major malformation is about 5–7% in Germany. Epidemiological data on malformation from (birth-) registries represent the basis for determining regional and temporal prevalence trends for major malformations, for evaluating and initiating preventive measures, and for initiating research projects. Active monitoring systems should be required to avoid collection, observer and definition biases. The essential epidemiological knowledge for research on malformation is provided.     

10. Easily identifiable congenital malformations

Summary. At birth, the prevalence of easily identifiable congenital malformations was 14 per 1000 babies. Polydactyly was very common and cleft lip/cleft palate very rare as they are in other black populations. The prevalence of neural-tube defects was only 1.6 per 1000 babies and there was little to indicate that the socially disadvantaged were any more vulnerable than those with better living standards. As a group, congenital malformations contribute very little towards the poor maternal and fetal outcomes in Zaria.     

A comprehensive assessment of outcomes in pregnancies conceived by in vitro fertilization/intracytoplasmic sperm injection

Objective

To assess the association between in vitro fertilization (IVF) with or without intracytoplasmic sperm injection (ICSI) and adverse birth outcomes.

Study design

Retrospective cohort study involved IVF/ICSI patients who were treated in the Ottawa Fertility Centre from 1996 to 2005 with a viable pregnancy (>20 weeks of gestation) and mothers who conceived naturally.

Results

Eleven of the 1044 infants conceived with IVF/ICSI (1.1%) and 7 of the 1910 naturally conceived infants (0.4%) had congenital heart defects (P < 0.01). Five of the 138 infants (3.6%) born to mothers with a body mass index > 30 and conceived by IVF/ICSI had congenital heart defects, compared with none in the 240 infants born to mothers with a body mass index > 30 and conceived naturally (P < 0.01).

Conclusion

Infants conceived with use of IVF/ICSI have three times as high a risk of a congenital heart defect as naturally conceived infants.     

The prevalence of selected major birth defects in the United States

Although collectively they are fairly common, birth defects receive limited attention as a group of outcomes either clinically or from a public health perspective. This article provides an overview of the prevalence, trends and selected socio-demographic risk factors for several major birth defects, including neural tube defects, cranio-facial anomalies, congenital heart defects, trisomies 13, 18, and 21, and gastroschisis and omphalocele. Attention should focus on strengthening existing registries, creating birth defects surveillance programs in states that do not have them, and standardizing registry methods so that broadly national data to monitor these trends are available.     

Congenital anterior abdominal wall defects in the north of England, 1986-1996: occurrence and outcome.

The aim was to describe trends in prevalence, maternal age-specific prevalence, associated anomalies, clinical outcomes and the sensitivity of antenatal diagnosis of congenital anterior abdominal wall defects (in particular gastroschisis and exomphalos). Data were identified from a population-based register of major congenital abnormalities in the Northern health region of England, the Northern Congenital Abnormality Survey (NorCAS), between 1986 and 1996. 296 cases were notified; there were 133 cases of gastroschisis, 98 exomphalos, 30 limb-body wall defects and 23 other anterior abdominal wall defects. 12 cases could not be classified. In 19 (6 per cent) the initial diagnosis was changed following case review. 30 (30.6 per cent) cases of exomphalos were associated with a chromosomal anomaly compared with 1 (0.8 per cent) case of gastroschisis. The total prevalence for the 11 years was 6.33 (95 per cent CI=5.57-7.08) per 10 000 live births, still births and terminations of pregnancy, and the overall birth prevalence was 4.30 (95 per cent CI=3.68-4.93) per 10 000 live births and still births. For gastroschisis, there was a significant increase over the study period in both the total prevalence (1.48 in 1986 to 5.29 per 10 000 in 1996; chi(2)=8.41, p=0.00433) and the birth prevalence (1.48 in 1986 to 4.72 per 10 000 in 1996; chi(2)=7.42, p=0.00644), but there was no such significant increase for exomphalos (total prevalence chi(2)=2.29, p=0.13055; birth prevalence chi(2)=0.16, p=0.69348). The maternal age-specific prevalence was highest in the 11-19 year age group for gastroschisis but in the 35-39 year age group for exomphalos. Fewer pregnancies with gastroschisis resulted in a termination and a greater proportion of cases were alive at one year compared with exomphalos. The sensitivity of abnormality detection by ultrasonography was 75 per cent and 77.3 per cent for gastroschisis and exomphalos, respectively. Antenatal diagnosis improved from 47.4 per cent during 1986-91 to 80 per cent between 1992-96 for gastroschisis (chi(2)=5.7, p=0.00169), and from 55.6 per cent to 68.8 per cent for isolated exomphalos, although this increase was not significant. Total and birth prevalence of gastroschisis increased in the Northern region between 1986 and 1996. For exomphalos, there was a trend towards an increase in total prevalence and towards a decrease in birth prevalence. This decreasing trend has been accompanied by improvements in antenatal detection and subsequent termination of cases of exomphalos associated with other anomalies.     

The contribution of birth defects to spontaneous preterm birth

The purpose of this study was to determine if and which birth defects (BDs) are risk factors for spontaneous preterm delivery, and to quantify that risk. A case-control study of spontaneously delivered term (n = 21,093) and preterm (n = 2937; 12.2%) liveborn neonates, between 1996 and 2000, at Ramón Sardá Maternity Hospital of Buenos Aires, was performed. Selected risk factors were compared between term and preterm neonates, and risks of preterm birth in the presence of BDs were evaluated, using stratified and logistic regression analyses. Preterm versus term neonates showed higher rates of most of the selected maternal and neonatal risk factors. The prevalence of BDs among preterm and term neonates was 4.1 and 2.0%, respectively (p < 0.001). Newborns with BDs showed a higher adjusted risk for preterm birth than those without BDs (odds ratio, 2.16; 95% confidence interval, 1.92 to 2.40), with the highest risks for skeletal dysplasias, abdominal wall defects, chromosome, multiple, and minor anomalies. That neonates with BDs are at risk for spontaneous preterm birth, regardless of other factors, should lead to a readjustment of health policies aimed at the reduction of preterm delivery.     

Prevention of congenital toxoplasmosis

In utero infection with Toxoplasma gondii may result in congenital defects such as hydrocephalus, chorioretinitis and mental retardation; these defects may be present at birth or may develop later in life. Prevention of this disease can be achieved in different ways. The most effective measure is to prevent the acquisition of the disease during pregnancy by avoiding risk factors for Toxoplasma gondii infection. Health education may decrease the incidence of toxoplasmosis during pregnancy by 60%. A second preventive measure is based on serologic screening during pregnancy to identify infected women. Treatment during pregnancy results in a significant reduction in the incidence of sequelae including severe handicaps. A third possible intervention is treating infected neonates. Antibiotic treatment of infected children has a beneficial effect on the development of sequelae and the sooner therapy is started after birth, the better the outcome. This overview presents the potential benefits and harms of these different options available for the prevention of congenital toxoplasmosis.