围产儿出生缺陷的监测与分析

目的分析2002-2010年围产儿出生缺陷流行病学特征及影响因素。方法以2002-2010年广东医学院附属南山医院分娩信息及出生缺陷的监测资料为基础,对缺陷率及影响因素进行分析。结果 9年间出生缺陷率为15.88‰,2007年后缺陷率明显增高;缺陷儿死亡占围产儿死亡的24.88%;前五位出生缺陷依次为先天性心脏病、多指＋并指、总唇腭裂、胎儿水肿综合征、神经管畸形,共占畸形总数的52.55%;出生缺陷发生与户籍、性别、季节、胎数及产妇年龄、文化程度、孕次、产次有关。结论出生缺陷防控形势严峻,应深入开展主要缺陷的病因学研究,以提供有效的防控措施;而广泛的健康教育,婚前、孕前优生优育指导,规范化孕产期保健及新生儿体检都是降低出生缺陷,提高人口素质的重要措施。     

妊娠妇女既往病史对出生缺陷影响因素的分析

目的探讨母亲既往病史对出生缺陷的影响因素,为进一步指导优生优育和出生缺陷有效的干预提供科学依据。方法依据区域特点、经济水平、医疗条件等选择山西省代表性六个县(市)作为调查区域,对2006年—2008年的出生儿健康状况、母亲既往病史及家庭情况进行回顾性调查。用SAS 9.2进行随机效应Logistic回归分析。结果本次调查总人数36 716,出生缺陷儿494例,出生缺陷发生率为134.55/万。其中城镇197例,出生缺陷率为105.13/万;乡村297例,出生缺陷率为150.83/万。六县(市)中交口县出生缺陷发生率最高为208.39/万,怀仁市出生缺陷发生率最低为70.47/万。随机效应Logistic回归模型分析结果显示,同一地区近亲结婚、亲属有缺陷儿、妊娠妇女有贫血、甲状腺疾病史、既往缺陷儿史可使出生缺陷的危险性增加。结论妊娠妇女有既往病史会增加出生缺陷的风险。明确妊娠妇女既往病史,可对出生缺陷进行有效的干预。     

孕早期心理健康状况与出生缺陷的病例对照研究

目的:探讨孕早期心理健康状况与出生缺陷的关系,为开展孕妇心理健康咨询与干预提供科学依据.方法:采用症状自评量表(SCL-90),对出生缺陷儿及正常儿母亲孕早期心理健康状况进行回顾性调查,对所研究的心理因素经二项分类Logistic回归分析,筛选出与出生缺陷发生相关的心理因素.结果:研究分析了635名出生缺陷儿母亲和1263名对照的资料,病例组轻度及中度以上心理问题检出率分别为12.28%和1.73%,高于对照组(8.00%和0.71%),且病例组人际敏感、抑郁、敌对、偏执及精神病性因子阳性率高于对照组(P<0.05).Logistic回归分析结果表明:在控制孕妇年龄、民族、文化程度、职业、常住地等混杂因素后,孕早期有轻度心理问题者,其胎儿患出生缺陷的风险是正常者的1.60倍.进一步分析结果显示:孕早期人际敏感、敌对、偏执、精神病性等因子为阳性者,将增加其胎儿患出生缺陷的危险性(OR值分别为1.68、1.82、1.96、4.20).结论:孕早期心理状况与胎儿出生缺陷发生有关.     

招远地区56例出生缺陷与产前诊断分析

目的：了解出生缺陷情况，查我原因并采取预防措施。方法：对56例出生缺陷儿的种类及其母亲产前诊断情况进行分析，对母亲孕期可能引起致畸原因进行探讨。结果：在已检出出生缺陷中以神经管畸形发病率最高，环境因素可能是其致畸原因之一；在未检出出生缺陷中，以胎儿四肢末端异常及软组织异常为主；参加优生监护，缺陷儿检出率高。结论：宣传优生优育，提倡优生监护，减少缺陷儿出生，提高人口素质。     

深圳市宝安区27461例围产儿出生缺陷监测结果分析

目的了解我院出生缺陷（B irth defects,BD）发生情况,探讨导致围产儿出生缺陷的各种可能相关因素。方法对2000年1月至2005年12月在我院分娩的孕28w至产后7d的围产儿进行监测,包括活产,死胎和死产。结果共监测围产儿27461人,检出出生缺陷儿369例,出生缺陷率为13.4‰,围产儿死亡率12.56‰,其中前3位为先天性心脏病,多指（趾）,和胎儿水肿综合征其发生率分别为：1.89‰,1.2‰,1.09‰。存在可能致畸因素者109例占29.53%。出生缺陷与早产,羊水过多,羊水过少,双胎等高危妊娠密切相关。结论先天畸形与遗传因素和孕早期的环境因素有直接关系。加强对高危妊娠的监护和产前诊断可早期发现缺陷儿。加强对先天性心脏病的诊断及预防措施的研究。     

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。     

出生缺陷500例临床分析及应对措施

目的探讨出生缺陷发生的种类、相关因素及应对措施。方法对6年间台州市路桥区出生缺陷500例进行回顾性临床分析。采用B超扫描、母体组织或血、尿检查胎儿是否先天缺陷。结果 6年间出生缺陷的发生率14.8‰,男女之比1.63∶1,两性畸形发生率0.4%;出生缺陷农村比城镇高出5倍;出生缺陷主要为先天性心脏病、先天性梅毒儿、唇腭裂。产前确诊240例,其中产前行治疗性引产170例,产前确诊比占48.0%。结论出生缺陷儿的发生与营养、季节、感染、环境及遗传因素有关。产前确诊减少了先天缺陷儿的出生,提高出生人口素质。     

拱墅区出生缺陷监测情况分析与探讨

目的了解拱墅区围产儿出生缺陷发生情况,探讨出生缺陷发生的相关危险因素,为采取有针对性的干预措施提供依据。方法收集2009年~2013年拱墅区四家产科单位分娩的34 764例围产儿进行出生监测,统计出生缺陷发生率,比较出生缺陷发生情况、构成以及孕期致畸的高危因素。结果共发现出生缺陷儿260例,出生缺陷发生率7.48‰,拱墅区出生缺陷发生率5年间无明显变化;出生缺陷的发生与产妇户籍、出生儿性别、产妇年龄有关;出生缺陷前5位依次为四肢畸形、消化系统畸形、心血管系统畸形、头部器官畸形、泌尿生殖系统畸形;孕期致畸形的高危因素主要为母亲因各种疾病服药、自然流产史、生育过畸形或家族有畸形。结论拱墅区近五年来出生缺陷发生率较为稳定;环境污染和生育年龄延迟可能加大出生缺陷的发生;应加强男性围产儿产前保健;在提倡晚婚晚育的同时,要尽量将生育年龄控制在35岁以前,此外还要加强高龄孕妇的产前筛查和产前诊断力度。     

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。     

贵阳市以人群为基础的出生缺陷现况调查分析

目的为贵阳市开展以人群为基础的出生缺陷工作策略提供现实依据。方法采用描述性研究,对贵阳市10区县市0-1岁儿童进行现状调查。结果 2016年出生缺陷人群监测调查发现出生缺陷儿共423例,出生缺陷发生率为252.21/万,以人群为基础的出生缺陷发生顺位与以医院为基础的出生缺陷存在差异,出生缺陷构成呈现农村大于城镇、本地大于非本地和男性大于女性,分娩出生缺陷儿孕妇年龄在25~段占比较高,为36.64%。结论贵阳市以人群为基础出生缺陷发生率较以医院为基础出生缺陷发生率较高,应深入健康教育力度,做好出生缺陷影响因素及预防手段的宣传,做好孕前优生优育咨询,提高降低出生缺陷发生率的服务能力和技术水平;加强非住院分娩或产后7天儿童出生缺陷监测。     

The differential effect of prenatal care on the incidence of low birth weight among blacks and whites in a prepaid health care plan

Black infants are born with low birth weights (less than 2500 g) and very low birth weights (less than 1500 g) at twice the rate of white infants. We investigated the effect of prenatal care delivered in a health maintenance organization on the birth weights of black and white infants at normal risk for low birth weight. Using birth certificates for all children born in 1978 in the California Kaiser-Permanente hospitals, we studied data on more than 31,000 black and white newborns whose mothers' ages and levels of education were comparable. The data show that black mothers used prenatal care less extensively and had a higher incidence of infants with low birth weights (8.4 vs. 3.6 percent) and very low birth weights (2.0 vs. 0.7 percent) than white mothers. The difference in the use of prenatal care, however, accounted for less than 15 percent of the difference in the incidence of low birth weight. The rates of low birth weight, very low birth weight, and preterm birth (less than 260 days' gestation) decreased with increasing levels of prenatal care for both blacks and whites. However, increasing levels of care were associated with a greater reduction among black infants than among white infants in low birth weight, very low birth weight, and low birth weight at term (greater than or equal to 260 days' gestation). When we compared mothers who received adequate care with those who received inadequate care, the relative risk of giving birth to a very-low-birth-weight infant was reduced 3.6-fold (95 percent confidence interval, 2.0 to 6.6) for black mothers and 2.1-fold (confidence interval, 1.3 to 3.4) for white mothers; the relative risk of giving birth to a low-birth-weight infant at term was reduced 3.4-fold (95 percent confidence interval, 2.2 to 5.4) for black mothers and 1.6-fold (confidence interval, 1.1 to 2.3) for white mothers. We conclude that even in a population of women at low risk for giving birth to low-birth-weight infants, prenatal care is more beneficial for blacks than for whites.     

Phenotypically normal girl with male pseudohermaphroditism,hypoplastic left ventricle,lung aplasia,horseshoe kidney,and diaphragmatic hernia

In a population-based case-control study of dietary folate and neural tube defects, information was collected by interview and self-administered questionnaires from the mothers of cases with only neural tube defects, from the mothers of matched control infants with defects other than neural tube defects, and from the mothers of matched liveborn infants with no birth defects. The association of midline birth defects (excluding neural tube defects) with dietary folate intake in the first 6 weeks of pregnancy was assessed by restricting the analysis to the 59 mothers of infants with midline defects in the first control group and comparing them with their matched control infants in the second control group. The crude and adjusted odds ratios for dietary folate and for folic acid supplementation were close to one, and all confidence intervals embraced unity. These data do not provide evidence of an association between midline birth defects (excluding neural tube defects) and either dietary folate or folic acid supplementation. © 1992 Wiley-Liss, Inc.     

Maternal exposure to first-trimester sunshine is associated with increased birth weight in human infants

Two alternative hypotheses have been generated to account for seasonal variation in the birth weight of human infants born in industrialized countries. First, it has been hypothesized that low ambient temperature during the second trimester of gestation decreases birth weight. Second, it has been hypothesized that exposure to bright sunshine during the first trimester increases birth weight. We tested these two hypotheses to determine which, if either, accounted for seasonal variation in birth weight of full-term infants. Birth weight data, collected over a 5-year period, were analyzed as a function of peak and trough sunshine and ambient temperature. Although there was no effect of ambient temperature during any trimester on birth weight, infants whose mothers were exposed to peak sunshine during their first trimester were born significantly heavier than infants whose mothers experienced trough levels of sunshine during the same trimester. Furthermore, infants whose mothers were exposed to trough levels of sunshine during their second and third trimesters were born significantly heavier than infants whose mothers were exposed to peak levels of sunshine during the same trimesters. We hypothesize that high levels of sunshine during early gestation may increase the level of insulin-like growth factor (IGF)-1, facilitating prenatal growth.     

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.     

Dietary folate and nonneural midline birth defects: no evidence of an association from a case-control study in Western Australia.

In a population-based case-control study of dietary folate and neural tube defects, information was collected by interview and self-administered questionnaires from the mothers of cases with only neural tube defects, from the mothers of matched control infants with defects other than neural tube defects, and from the mothers of matched live-born infants with no birth defects. The association of midline birth defects (excluding neural tube defects) with dietary folate intake in the first 6 weeks of pregnancy was assessed by restricting the analysis to the 59 mothers of infants with midline defects in the first control group and comparing them with their matched control infants in the second control group. The crude and adjusted odds ratios for dietary folate and for folic acid supplementation were close to one, and all confidence intervals embraced unity. These data do not provide evidence of an association between midline birth defects (excluding neural tube defects) and either dietary folate or folic acid supplementation.     

Craniosynostosis in Western Australia, 1980–1994: A population-based study

A craniomaxillofacial unit was established recently in Western Australia, and a study was carried out to provide some baseline characteristics of primary craniosynostosis in Western Australia and to investigate whether there has been any significant temporal change in birth prevalence. A case control study was conducted, using cases identified from a population-based register of birth defects, and a random sample of all births without a birth defect formed the control group. All subjects were born in Western Australia over the period 1980–1994 inclusive. The prevalence of craniosynostosis over the period 1980–1994 in Western Australia was 5.06 per 10,000 births. There was a significant linear increase in lambdoid synostosis over this period of 15.7% per year. Craniosynostosis was significantly more common among male infants, infants born preterm (<37 weeks gestation), breech presentation or presentations other than vertex, and infants born to fathers 40 years of age or older, even after accounting for known autosomal dominant syndromes. Other major birth defects were found in 11.2% of children with nonsyndromic craniosynostosis. Only 43 children (25.3%) with craniosynostosis were reported to have been seen by a geneticist. Thus, the prevalence of craniosynostosis in Western Australia is among the lowest reported. There is no current explanation for the increase in lambdoid synostosis. The increased risk of so-called nonsyndromic craniosynostosis with paternal age raises the possibility of undiagnosed new dominant mutations. This, along with the excess of other birth defects in children with craniosynostosis emphasises the need to ensure that these families are offered genetic counseling. Am. J. Med. Genet. 83:382–387, 1999. © 1999 Wiley-Liss, Inc.     

Maternal interview reports of family history of birth defects: Evaluation from a population-based case-control study of orofacial clefts

Accurate family histories of birth defects are critical for risk assessment and etiologic investigations. Typically, information about family history of birth defects is ascertained from interviews with birth mothers of index children; however, the quality of these interviews is rarely assessed. We evaluated family history information provided by case (n = 28) and control (n = 29) mothers who participated in a population-based, case-control study of orofacial clefts. Interview responses from mothers were compared to questionnaire reports collected by mail from first- and second-degree parental relatives. A total of 345 case and 380 control adult relatives completed questionnaires. These relatives also provided reports for 130 case and 169 control offspring. To examine the quality of birth defect reports, the sensitivity and specificity of birth mother responses were calculated. Sensitivity for presence (yes/no) of a birth defect was 31% for case mothers and 9% for control mothers. Specificity for case and control mothers was 98% and 97%, respectively. Interview responses from mothers who participate in family genealogy were more likely to be concordant with relative reports than were responses from mothers who do not participate in family genealogy. Case mother responses were more likely to be concordant than control mother responses. These results suggest that reliance on interview reports from birth mothers may lead to an underestimation of the occurrence of birth defects in relatives. Future investigations should explore methods to improve the quality of informant reports about family histories of birth defects. One alternative approach is discussed. Am. J. Med. Genet. 72:422–429, 1997. © 1997 Wiley-Liss, Inc.     

极低出生体重儿临床相关因素及与预后的关系

目的探讨极低出生体重儿的围产期及临床特点,分析其与预后的关系.方法分析110例极低出生体重儿(含12例超低出生体重儿)的一般情况、产科及母孕期情况、新生儿临床特点.结果胎龄小于32w者占79%,小于胎龄儿占17.3%,41%为多胎;32%有胎膜早破史,18%母亲有妊高征;36%有窒息复苏史;产科异常是胎儿早产的主要原因.呼吸暂停、低体温、高胆红素血症及低血糖是常见的并发症;多胎、围产期异常及小于胎龄儿是极低出生体重儿主要死亡原因,生于院内或转运者死亡率明显低于院外出生者(P<0.01).结论加强对高危孕妇及新生儿的监护,普及新生儿窒息复苏知识,将有助于改善极低出生体重儿的预后.     

Perinatal transmission of hepatitis B virus in Thailand

Perinatal transmission of hepatitis B virus (HBV) from asymptomatic HBsAg carrier mothers to their infants was studied in 78 mother-infant pairs by determination of HBsAg, HBeAg and anti-HBe both in the mothers and in their infants at regular intervals for those children up to the time when they reached at least one year of age. Twenty-five out of the 78 (32.1%) infants born to these mothers were HBsAg-positive 2-6 months after birth and they remained so throughout the observation period of at least one year or more. Perinatal HBV transmission occurred only in infants born to HBsAg carrier mothers who were HBeAg-positive (92.6%) but not in those born to HBsAg carrier mothers who had no detectable HBeAg. This study suggests that preventive measures against HBV transmission during the perinatal period should be taken only for infants born to HBsAg carrier mothers who are HBeAg-positive. In addition, the active immune response to HBV was studied in 75 non-HBsAg carrier infants born to HBsAg carrier mothers by determination of anti-HBs at one year of age or older. Forty-three of these infants were treated with HBIG at birth and 32 infants received no treatment. It was found that infants born to HBsAg carrier mothers who were HBeAg-positive had a better active immune response (84.2% positive for anti-HBs) than infants born to HBsAg carrier mothers who had no detectable HBeAg or anti-HBe (14.3% and 20.4% positive for anti-HBs respectively).