广西少数民族出生缺陷危险因素的危险度评价和干预研究

目的 探讨广西少数民族出生缺陷的危险因素，评价影响人口素质的各种诱因的危险度及规划出生缺陷的干预措施。方法 采用单因素及多因素COX回归模型对广西2000年少数民族围产儿228例(包括出生缺陷儿63例和正常儿165例）的父母亲在孕前及孕期所暴露的危险因素进行了危险度评价分析研究并探讨了相应的干预措施。结果 COXE扫模型多因素分析结果显示：母亲孕期接触农药、母亲患地中海贫血、慢性病及妊娠合并症等4个因子是出生缺陷的危险因素．其相对危险度RR分别为24．819、18．431、4．253和2．584。结论 母亲孕期接触农药、患地中海贫血、慢性病及妊娠合并症等是广西少数民族围产儿出生缺陷发生较重要的危险因素；今后在广西对少数民族出生缺陷进行干预时可优生健康教育、加强地中海贫血筛查和高危孕妇孕期监测等方面入手，以提高广西出生人口素质。     

柳州地区非综合征型唇腭裂环境危险因素1：1病例对照研究

目的探讨柳州地区非综合征型唇腭裂发生的环境危险因素,分析各因素的危险程度。方法采用1：1配对病例对照研究的方法,对广西柳州地区非综合征型唇腭裂患儿进行了环境影响因素的流行病学调查,采用配对资料χ2检验和单因素及多因素条件logistic回归分析筛选出与非综合征型唇腭裂易感性有关的环境因素,使用SPSS13.0进行统计分析。结果共调查非综合征型唇腭裂儿童与正常健康对照儿童178对。非综合征型唇腭裂患儿中单纯唇裂53例,唇裂合并腭裂79例,单纯腭裂46例。多因素分析提示居住在农村（OR=2.35）、母亲孕前6个月或孕早期接触宠物（OR=4.46）、母亲孕前6个月或孕早期被动吸烟（OR=2.20）、先兆流产（OR=20.8）、母亲慢性病史（OR=31.84）、母亲出生缺陷家族史（OR=11.14）、父亲职业有害物理因素接触史（OR=4.62）是非综合征型唇腭裂发生的危险因素,而母亲孕前6个月至孕早期补充叶酸（OR=0.30）、父亲文化程度高（OR=0.14）是非综合征型唇腭裂发生的保护因素。结论影响非综合征型唇腭裂发生的危险因素众多,根据研究结果采取有针对性的健康促进措施,提高孕前保健意识,对降低出生缺陷的发生率将起到积极作用。     

甘肃省张掖地区产前筛查现状与策略

目的调查甘肃省张掖市出生缺陷及产前筛查现状,提出完善产前筛查,降低出生缺陷的对策。方法回顾性统计张掖市1998.1～2013.1年出生缺陷情况,统计分析出生缺陷率、出生缺陷发生顺位与构成比及产前筛查现状。结果15036例围产儿中有257例出生缺陷儿,出生缺陷发生率16.62‰;围产儿死亡率5.42‰,缺陷儿死亡率175.42‰（是总围产儿死亡率的33倍）。前4位出生缺陷依次为：先天性心脏病、多（并）指趾、唇腭裂、外耳其他畸形。应用SPSS统计软件进行单因素和多因素条件Logistic回归分析。有统计学意义的危险因素共8个,包括早孕期发烧、病毒感染、GDM、妊娠高血压疾病、患其他病、服用抗生素、服用其他药、接触农药。多因素条件Logistic回归分析,有统计学意义的危险因素是孕早期接触农药（OR=14.433）、感染病毒（OR=7.645）、服用其他药物（OR=6.686）及服用抗生素（0R=6.545）。结论1.降低出生缺陷,预防至关重要,重点推广一级预防：加强孕前、孕期保健、遗传咨询、产前诊断工作,减少出生缺陷的发生;加强产前筛查与产前诊断等二级预防措施;积极应对出生缺陷儿的处理三级预防,可有效降低出生缺陷的发生率。2.甘肃省张掖市缺陷发生率居高不下,产前筛查率偏低,建立合理实用的产前筛查规范已是势在必行。     

111例围产儿出生缺陷的因素分析

目的发现影响出生缺陷的可疑因素,为病因学研究提供线索,为制定出生缺陷的预防措施提供科学依据,为人口计生部门提供可靠依据。方法对111例出生缺陷儿的临床资料运用回顾调查方法进行科学分析。结果57.7%的出生缺陷儿与母亲孕期前3个月感冒发烧,使用抗感冒药及滥用抗生素有关;13.5%的出生缺陷儿与母亲孕前及孕早期情绪不稳、心情不愉快有关;28.8%的出生缺陷儿与其他因素有关。结论根据世界卫生组织提出了具体的三级预防概念,对出生缺陷儿进行有效的干预措施,事实证明,是非常有效的预防措施之一。     

曲靖地区新生儿主要出生缺陷流行病学及干血斑筛查的应用研究

目的探讨曲靖地区新生儿主要出生缺陷流行病学及干血斑筛查的应用效果。方法选择2014年1月-2017年1月曲靖地区48?377例新生儿作为研究对象。(1)流行病学分析:新生儿娩出后对其进行全面检查,记录存在遗传缺陷的新生儿及相关疾病等信息,并对其主要遗传缺陷影响因素进行方差分析。(2)干血斑筛查。将干血斑筛查结果与新生儿最终确诊的主要出生缺陷进行比较,分析其主要出生缺陷流行病学及干血斑筛查效果。结果新生儿中共有242例发生出生缺陷,发病率为0.50%。单因素方差分析结果表明:新生儿主要出生缺陷发病率与性别、第一胎、单胎无相关关系,差异无统计学意义(P0.05);新生儿主要出生缺陷发病率与产妇年龄、父亲吸烟、孕期感冒、妊娠期合并症、孕期发热、孕期服用抗菌药物、孕期接触有害物质关系密切,差异有统计学意义(P0.05);多因素Logistic回归分析结果表明:新生儿主要出生缺陷发病率与产妇年龄、吸烟、孕期感冒、妊娠期合并症、孕期发热、孕期服用抗菌药物、孕期接触有害物质关系密切,差异有统计学意义(P0.05);242例新生儿主要出生缺陷与干血斑筛查结果比对,其诊断符合率为96.97%;通过干血斑筛查出的先天性心脏病、腭(唇)裂、多指诊断符合率与最终确诊结果比较,差异无统计学意义(P0.05)。结论曲靖地区新生儿出生缺陷主要以先天性心脏病、腭(唇)裂及多指为主,且影响因素较多。加强干血斑筛查能实现主要遗传疾病的早期筛查,对提高临床诊疗和降低出生缺陷具有重要意义。     

我国南,北方神经管缺陷病因学初探

对１９８６～１９８８年间监测的４１３４例神经管缺陷进行了病例对照（１：１）研究。对照为在同一医院紧接畸形儿出生的一例非畸形活产儿。采用非条件Ｌｏｇｉｓｔｉｃ回归方法控制混杂因素后，发现南北方神经管缺陷的发生均与母亲孕早期接触射线、噪声、化学物、农药有关。孕早期感冒并发热或不发热（南方、北方组）、服用磺胺（北方组）、避孕药（北方组）、中草药（南方、北方组）等亦可增加神经管缺陷发生的危险性。     

江苏省部分地区出生缺陷病患相关因素的病例对照研究

目的通过对江苏省部分地区出生缺陷与相关因素的调查研究,分析该地区发生出生缺陷的危险因素,为政府制定针对性的防治措施提供理论依据。方法设计统一的调查问卷,由经培训的调查人员对孕期情况及妊娠结局逐一调查,并以出生缺陷儿为病例组,正常儿童为对照组,应用Logistic回归分析方法,对出生缺陷的相关因素进行统计分析。结果单因素分析提示,拟孕妇女工作中经常接触有害物质;孕早期患病、服用/注射药物或接触化学物质均能增加患出生缺陷儿的风险性;夫妇患有先天性病史、孕妇怀过畸形儿或生育过先天性疾病儿均与生育出生缺陷儿关系显著。多因素分析显示,妇女工作中经常接触有毒害物质和曾经怀过畸形儿者是出生缺陷发生的危险因素,而每天坚持服用叶酸增补剂2个月以上可以降低出生缺陷发生的风险。结论加强优生优育知识的宣传力度,提高遗传性疾病的诊疗水平,改善孕前/孕期不良工作环境、注意孕早期用药安全,提倡适当服用叶酸增补剂等对于降低出生缺陷发生风险,提高出生人口素质尤为重要。     

江苏地区畸形胎儿发育影响因素的病例对照研究

目的调查江苏地区胎儿畸形发育的危险因素,为胎儿的全面超声检查以及预防和减少新生儿出生缺陷提供科学依据。方法回顾性分析1560例进行产前超声检查的孕妇的基本资料,其中病例组孕妇459例,对照组孕妇1101例,对两组孕妇的孕前及孕期的影响胎儿发育的相关因素进行对比分析研究。结果孕期患病及用药史、孕期居室装修、异常孕产史、孕前及孕期服用叶酸、工业环境接触史、孕期饲养宠物、孕期被动吸烟史以及孕期预防接种史与胎儿畸形的单因素分析结果具有统计学差异（P〈0.05）。孕妇年龄、文化程度以及家族遗传史上不具有统计学意义。结论孕前及孕期增补叶酸是胎儿发育的保护性因素,而孕期患病及用药史、孕期居室装修、异常孕产史、孕期工业环境接触史、孕期饲养宠物、孕期被动吸烟史以及孕期预防接种史则是发生胎儿畸形的危险因素。     

唐氏综合征筛查高风险与社会危险因素的相关性研究

目的探讨唐氏综合征筛查高风险与社会危险因素。方法选择2010年1月至2015年6月本院诊断唐氏综合征胎儿且于出生后确诊唐氏综合征患儿的母亲100例为研究组,同时选取同期出生正常儿母亲100例为对照组,采用调查分析形式,了解其与社会危险因素之间的相关性。结果研究组患儿母亲存在孕期化妆,孕期染发,孕期吸烟、饮酒,长时间使用手机和电脑,孕期接触放射性物质及孕期反复抗菌药物的比例显著高于对照组(P0.05),规律服用叶酸的比例显著低于对照组(P0.05),妊娠年龄超过35岁,孕期化妆,孕期染发,既往吸烟、饮酒,长时间使用手机和电脑,孕期接触放射性物质为发生唐氏综合征的独立危险因素。结论年龄超过35岁,孕期化妆、染发、吸烟、饮酒、长时间使用手机和电脑以及孕期接触放射性物质者孕育唐氏综合征胎儿几率显著增加,需提高临床重视。     

9例神经管缺损临床病因及预防浅析

作者对９例神经管缺损患儿进行临床诱因、畸形类型及家族史情况分析，发现患儿的母亲均有孕期患病史（病毒性感冒、胆道蛔虫症，荨麻疹，痢疾及严重妊娠反应）；服药史如磺胺、庆大霉素、激素和中药等；化学或物理致畸物接触史。畸形类型可分为脑膜膨出（６／９），脊柱裂（１／９）；脑积水（１／９）；脊柱裂伴脑膜膨出（１／９）。家族史发现父母为表兄妹结婚的有３例．     

盐城地区围产儿出生缺陷相关影响因素分析

目的通过对围产儿出生缺陷情况结果的监测,探究其相关影响因素,并为干预措施提供理论依据。方法截取我院2008年3月-2012年1月共100例具有出生缺陷的围产儿,回顾性调查先天异常发生的情况,并以他们为病例组,采用病例对照研究,按照1：3的原则选出同时期出生,监测正常的新生儿为对照组,结果用单因素及多因素Logistic回归分析方法筛选出相关影响因素。结果4年共监测围产儿21258例,发现出现出生缺陷100例,出生缺陷发生率4．7‰。缺陷种类前5位分别为总唇腭裂、多指（趾）、先天性心脏病、先天性脑积水、肢体短缩,构成比分别为11．7％,6．5％,4．38％,4．15%/0,3．65％。单因素分析显示,吸烟或饮酒、胎产次、感冒发热（服用感冒药）等为危险因素。保护因素为婚检、孕检、服用叶酸、孕期经常食用肉蛋奶类或蔬菜水果类。多因素分析显示吸烟或饮酒、妊娠合并症、暴露于化学物质或X线等危险物质为危险因素,婚检、孕检为出生缺陷的保护因素。结论出生缺陷干预可从多方面进行,加强出生缺陷监测,提倡婚检、孕检,减少围孕期有害物质的接触,减少吸烟饮酒等不良生活习惯,加强孕期营养等。     

Birth defects following maternal exposure to ergotamine, beta blockers, and caffeine.

Ergotamine exposure during pregnancy has been suggested to cause birth defects which have a vascular disruptive aetiology. The present case provides additional support for the possible adverse fetal effects of exposure to ergotamine, caffeine, and propranolol during the first four months of pregnancy. At birth the infant showed evidence of early arrested cerebral maturation and paraplegia. The nature of these defects suggests a primary vascular disruptive aetiology. We hypothesise that ergotamine, acting either alone or in synergy with propranolol and caffeine, produced fetal vasoconstriction resulting in tissue ischaemia and subsequent malformation. This case raises the possibility that fetal malformation may result from concomitant use of multiple vasoconstrictive agents during pregnancy.     

Spontaneous abortion–high risk factor for neural tube defects in subsequent pregnancy

An increased spontaneous abortion rate has been observed in pregnancies preceding that of fetuses or newborn infants with neural tube defects (NTDs). There are 2 suggested explanations for this observation. One is that a trophoblastic cell rest, remaining from a previous aborted pregnancy, interferes with normal embryogenesis. The second is that the previous lost fetus was affected with NTD. We studied the obstetric history of mothers of newborn infants with NTDs compared to those with other birth defects, in low and high risk groups for NTD (Jew and Bedouins). A significantly higher spontaneous abortion rate (48%) in the preceding pregnancy was found in the NTD group compared to the group with other birth defects (20%). This was especially remarkable for spina bifida cases in the Jewish study population. A significantly higher rate of preceding spontaneous abortion was also found in congenital heart defects (CHD) when compared to other congenital malformations. A hypothesis based on the multifactorial threshold model is put forward to explain these findings. Based on the realization that spontaneous abortion constitutes a high risk factor for NTD and possibly also CHD, we recommend a delay of subsequent pregnancy and periconceptional treatment with folic acid following spontaneous abortion. © 1994 Wiley-Liss, Inc.     

Risk of congenital anomalies associated with antithyroid treatment during pregnancy: a meta-analysis

To evaluate the association of either propylthiouracil or methimazole treatment for hyperthyroidism during pregnancy with congenital malformations, relevant studies were identified by searching Medline, PubMed, the Cochrane Library and EMBASE.We intended to include randomized controlled trials, but no such trials were identified. Thus, we included cohort studies and case-control studies in this meta-analysis.A total of 7 studies were included in the meta-analyses. The results revealed an increased risk of birth defects among the group of pregnant women with hyperthyroidism treated with methimazole compared with the control group (odds ratio 1.76, 95% confidence interval 1.47–2.10) or the non-exposed group (odds ratio 1.71, 95% confidence interval 1.39–2.10). A maternal shift between methimazole and propylthiouracil was associated with an increased odds ratio of birth defects (odds ratio 1.88, 95% confidence interval 1.27–2.77). An equal risk of birth defects was observed between the group of pregnant women with hyperthyroidism treated with propylthiouracil and the non-exposed group (odds ratio 1.18, 95% confidence interval 0.97–1.42). There was only a slight trend towards an increased risk of congenital malformations in infants whose mothers were treated with propylthiouracil compared with in infants whose mothers were healthy controls (odds ratio 1.29, 95% confidence interval 1.07–1.55). The children of women receiving methimazole treatment showed an increased risk of adverse fetal outcomes relative to those of mothers receiving propylthiouracil treatment.We found that propylthiouracil was a safer choice for treating pregnant women with hyperthyroidism according to the risk of birth defects but that a shift between methimazole and propylthiouracil failed to provide protection against birth defects.     

中山地区2008年-2010年出生缺陷监测结果分析

目的了解中山市出生缺陷的发生及分布情况,及时发现影响出生缺陷的可疑因素,协助指导制定相应的干预措施,做好今后出生缺陷监控工作提供科学依据。方法对2008年-2010年中山市各医院分娩的孕满28周～产后7天内出生的所有围产儿(包括活产、死胎、死产)进行出生缺陷监测,并对其发生率、顺位及诊断依据进行分析。结果三年内中山市出生缺陷发生率为260.05/万,排位前五位分别是先天性心脏病、多指(趾)、马蹄内翻足、地中海贫血、总唇腭裂。中山市户籍人口和农村、流动人口的顺位和发生率有明显差异。结论加强流动人口孕产妇的孕期保健管理,普及孕期产前筛查意识,提高出生缺陷产前筛查和产前诊断的准确性,早期发现,早期诊断,早期干预,预防性用药等可减少出生缺陷的发生     

Non-genetic risk factors for gastroschisis

Gastroschisis is an abdominal wall defect typically located to the right of the umbilical cord in which intestines and occasionally other abdominal contents herniate through the abdominal wall opening. The etiology of this defect is unknown. The increased recurrence risks observed in families with a child with gastroschisis suggest that genetic factors play a role in its causation. However, non-genetic factors are also important, as evidenced by the increased occurrence of gastroschisis among younger mothers, the increasing prevalence of gastroschisis in recent years observed by several birth defects surveillance systems, and the frequent occurrence of gastroschisis in a cluster pattern. Despite recognition of the importance of non-genetic factors in gastroschisis causation, no factors, other than young maternal age, have been definitively identified, limiting the development of prevention strategies. This article summarizes the currently available literature on non-genetic risk factors for gastroschisis, including investigations of sociodemographic factors, maternal therapeutic medication and non-therapeutic drug exposures, chemical exposures, and other factors. The article also discusses some of the challenges faced by investigators working to better understand gastroschisis etiology.     

围产儿出生缺陷影响因素的病例对照研究

目的探寻围产儿出生缺陷的影响因素,为出生缺陷干预提供科学依据。方法按照1∶1配对的原则选取出生缺陷围产儿和健康围产儿各807例,用单因素与多因素Logistic回归分析筛选出生缺陷的主要影响因素。结果婚前参加体检,经常食用鱼虾肉蛋类、牛奶豆类食物等为出生缺陷的保护性因素;父母近亲结婚、家庭附近有污染、孕育期用药、孕育期接触有害物质、有生育畸形儿史、母亲吸烟饮酒为出生缺陷的危险因素。结论出生缺陷干预可从控制环境有害因素、加强孕期营养保健、指导孕期合理用药、减少吸烟饮酒等不良行为生活方式、提倡婚前体检等方面综合入手。     

Editorial: Can the pill cause birth defects?

Potential establishment of a causal relationship between a syndrome of multiple congenital anomalies (vertebral, anal, cardiac, tracheoesophageal, renal, and limb, i.e., "VACTERL") and maternal progesterone/estrogen exposure has been made by retrospective and prospective studies. A study providing etiologic evidence between oral contraceptives and birth defects (limb anomalies especially) found only males affected; the proportion of males in another cluster of VACTERL pa tients was also very high (10 out of 15). It was suggested that if oral contraceptives are teratogenic, it is with people who are predisposed. Unlike thalidomide, there is no high risk at each exposure but there are a high number of exposures from widespread use. The importance of eliciting accurate drug exposure histories from mothers is streesed; only 1/3 of the patients who had established exposure to oral contraceptives at a vulnerable embryonic period had this exposure recorded in their charts. It was concluded that hormonal pregnancy tests should be stopped.