Epidemiology of birth defects among children in 8 provinces in China]

In 1988, birth defects (BD) among 85,170 children aged 0-14 were investigated in eight provinces and cities of China. The overall prevalence rate was 15.13% in urban, 15.40% in rural areas. The prevalence rate of BD was significantly higher in males than in females (16.66% vs 13.70%). The prevalence rate of BD was significantly higher in mothers aged > or = 35 years than in mothers aged < 35. 20 of 82 categories of BD accounted for > or = 1% of all BD. The 3 leading BD were: cutis angioma, congenital heart disease and indirect hernia. The incidence of mental retardation was significantly higher in children with BD than in children without BD.     

新疆图木舒克市出生缺陷患儿父母人群特征

目的 了解目前新疆地区出生缺陷患儿父母人群特征及探索其潜在影响因素情况,为新疆地区出生缺陷的进一步调查和防治提供决策依据。方法 采用出生监测数据,从2007—2016年10年监测的出生缺陷患儿中采用简单随机抽样方法抽取250例患儿,对其家长进行现场问卷调查。结合民族地区特征,按照一般情况、母亲情况、父亲情况分三组变量进行调查。结果 175例出生缺陷疾病儿童,其中男性105人,占60.0%,女性70人,占40.0%。平均年龄为（4.8±2.5）岁,其中6岁及以下占54.9%,7~10岁占45.1%。有20人患儿父母有血缘关系,占11.4%。大部分患儿父母为维吾尔族（父：86.3%,母：86.9%）、初中及以下文化程度（父：92.6%,母：94.9%）、职业为农民（父：87.4%,母：88.6%）。大多数患儿父母没有接受过婚育指导（母：79.4%）和婚育前体检（父：85.7%,母：81.1%）,大多数患儿母亲孕早期没有叶酸增补（母：94.3%）。结论 影响新疆出生缺陷发生的可能高危因素为父母为维吾尔族、低文化程度、农民、未接受婚育指导和婚育前体检,出生缺陷家族史,母亲孕早期没有补充叶酸等。     

重庆市渝东南和渝东北地区0～5岁儿童出生缺陷现况研究

目的 了解重庆市渝东南和渝东北地区0～5岁儿童出生缺陷总体发生水平,描述其主要出生缺陷病种及发生情况,为开展有针对性的出生缺陷干预提供科学依据.方法 采用按比例多阶段整群随机抽样方法选择对象,统一制定严格的诊断标准和复核标准,由经过严格培训的调查员现场对调查对象进行病史询问和体格检查.结果 渝东南和渝东北地区的出生缺陷发生率分别为39.84‰(41/1 029)和49.48‰(114/2 190),差异无统计学意义(x2=1.49,P=0.22);两地区前3位出生缺陷类型分别为疝、多指(趾)并指(趾)、隐睾以及疝、隐睾、先天性心脏病.渝东南地区男童、女童出生缺陷发生率分别为59.65‰和15.25‰,渝东北地区分别为71.37‰和21.67‰,两地区男童的出生缺陷发生率均显著高于女童(P＜0.05).渝东南地区各年龄组缺陷发生率比较差异无统计学意义(x2 =1.22,P=0.87);渝东北地区1岁年龄组缺陷发生率最高,4～5岁组次之,两组相比差异有统计学意义(x2=9.91,P ＜0.05).渝东北地区农村儿童出生缺陷的发生率(56.72‰)高于城镇(32.02‰)(x2=7.80,P ＜0.05),并且高于渝东南地区农村儿童出生缺陷发生率(37.36‰)(x2=4.50,P＜0.05).结论 基于人群的出生缺陷调查结果全面揭示了重庆市渝东南和渝东北地区0～5岁儿童出生缺陷的实际发生水平及其三间分布特征,应针对其中发生率高且危害严重的疾病寻找主要危险因素,进行相应预防和控制.     

三峡库区5433例病残儿先天性心脏病流行病学调查

目的 探讨重庆三峡库区16个区县儿童先天性心脏病的发生情况,为先天性心脏病人群干预及病因学研究提供参考.方法 利用重庆市病残儿医学鉴定平台,收集、回访、调查、整理三峡库区所属区、县5433例病残儿医学鉴定资料并从中筛选出418例先天性心脏病患儿,分析先天性心脏病与库区环境因素的关系.结果 大渡口区、涪陵区、长寿区、沙坪坝区、巴南区、万州区等儿童先天性心脏病发病率较高,奉节县等区县人群的患病率较低.418例先天性心脏病患儿中,室间隔缺损最多(44.7％),其他依次为房间隔缺损(10.8％)、动脉导管未闭(8.9％)、法洛四联征(7.7％)等.结论 室间隔缺损为重庆三峡库区先天性心脏病的主要类型,加大早期筛查力度,加强孕早期保健和防护,重视产前健康筛查,对预防儿童先天性心脏病具有较大意义.     

三峡库区5433例病残儿先天性心脏病流行病学调查

目的 探讨重庆三峡库区16个区县儿童先天性心脏病的发生情况,为先天性心脏病人群干预及病因学研究提供参考.方法 利用重庆市病残儿医学鉴定平台,收集、回访、调查、整理三峡库区所属区、县5433例病残儿医学鉴定资料并从中筛选出418例先天性心脏病患儿,分析先天性心脏病与库区环境因素的关系.结果 大渡口区、涪陵区、长寿区、沙坪坝区、巴南区、万州区等儿童先天性心脏病发病率较高,奉节县等区县人群的患病率较低.418例先天性心脏病患儿中,室间隔缺损最多(44.7％),其他依次为房间隔缺损(10.8％)、动脉导管未闭(8.9％)、法洛四联征(7.7％)等.结论 室间隔缺损为重庆三峡库区先天性心脏病的主要类型,加大早期筛查力度,加强孕早期保健和防护,重视产前健康筛查,对预防儿童先天性心脏病具有较大意义.     

吉林省0～5岁儿童出生缺陷抽样调查分析

目的：了解吉林省0~5岁儿童出生缺陷状况和分布特征,探讨出生缺陷干预对策。方法：采用多阶段整群随机抽样方法,在吉林省东、中、西部区域共抽取15个县（市、区）的共90个乡（镇、街道）作为调查点,对各调查点于2008年10月1日0时-2013年9月30日24时出生的儿童进行回顾性调查。调查共收集吉林省0~5岁儿童样本48720例,剔除不合格样本291例,有效样本48429例。使用自行设计的儿童出生缺陷调查问卷进行调查,数据采用EpiData3.1软件进行数据录入,采用SPSS21.0统计软件进行统计学分析,儿童出生缺陷发生率组间比较采用χ²检验。结果：调查有效样本共48429例,发现出生缺陷患儿共517例,吉林省0~5岁儿童出生缺陷总发生率为10.68‰。男童出生缺陷发生率（11.52‰）高于女童（9.56‰）（χ²=83.768,P<0.01）。农村儿童出生缺陷发生率（11.87‰）高于城镇（9.64‰）（χ²=5.651,P=0.017）。出生缺陷发生率较高的前五位疾病依次为先天性心脏病、多指（趾）、先天性脑积水、唇裂并发腭裂和脊柱裂。结论：吉林省0~5岁儿童出生缺陷发生率在全国处于较低水平,出生缺陷发生率性别和城乡分布差异明显,先天性心脏病已成为吉林省首位高发出生缺陷。     

围产儿死亡与出生缺陷关系的统计研究

目的 探讨围产儿死亡与出生缺陷的关系,是为了有效降低围产儿的死亡率提高人口质量,提高民族素质. 结果 2006年10月1日至2008年9月30日间,沈阳市和平区20个围产地段检测的围产儿数4768人,围产儿死亡数36人,围产儿死亡率7.55‰,其中,死胎28例,占围产儿死亡的77.78%;死产2例,占围产儿死亡的5.56%. 结论 研究结果表明,出生缺陷占围产儿死亡的比例最高,是造成围产儿死亡率升高的主要原因.     

Association of preterm birth with long-term survival, reproduction, and next-generation preterm birth

Context  Preterm birth is a major cause of infant morbidity and mortality. Less is known about long-term health among persons born preterm. Objective  To determine the long-term effects of preterm birth on survival, reproduction, and next-generation preterm birth. Design, Setting, and Participants  Population-based, observational, longitudinal study using registry data from 1 167 506 singleton births in the Medical Birth Registry of Norway in 1967-1988. The cohort was followed up through 2002 for survival. The cohort was truncated to births from 1967-1976 for assessment of educational achievement and reproductive outcomes through 2004. Main Outcome Measures  In relation to sex and gestational age at birth, absolute mortality, risk of fetal, infant, child, and adolescent mortality, and incidence and risk of reproduction and next-generation preterm birth. Singleton term (37-42 weeks) fetal deaths and live births, stratified by sex, served as the reference group for all analyses. Results  The percentage who were born preterm was higher among boys (5.6%) than among girls (4.7%). Preterm participants had an increased risk of mortality throughout childhood. For boys born at 22 to 27 weeks, mortality rates were 1.33% and 1.01% for early and late childhood death, with relative risks (RRs) of 5.3 (95% confidence interval [CI], 2.0-14.2) and 7.0 (95% CI, 2.3-22.0), respectively. The mortality rate for girls born at 22 to 27 weeks was 1.71% for early childhood death, with an RR of 9.7 (95% CI, 4.0-23.7); there were no late childhood deaths. For 28 to 32 weeks, the early and late childhood mortality rates among boys were 0.73% and 0.37%, with RRs of 2.5 (95% CI, 1.6-3.7) and 2.3 (95% CI, 1.3-4.1), respectively. Girls born at 28 to 32 weeks did not have a significantly increased risk of childhood mortality. Reproduction was diminished for index participants born preterm. For men and women born at 22 to 27 weeks, absolute reproduction was 13.9% and 25%, with RRs of 0.24 (95% CI, 0.17-0.32) and 0.33 (95% CI, 0.26-0.42), respectively. For 28 to 32 weeks, absolute reproduction was 38.6% and 59.2% for men and women, with RRs of 0.7 (95% CI, 0.66-0.74) and 0.81 (95% CI, 0.78-0.85), respectively. Preterm women but not men were at increased risk of having preterm offspring. Conclusion  In persons born in Norway in 1967-1988, preterm birth was associated with diminished long-term survival and reproduction.      

中国双胎及双胎合并出生缺陷的流行病学调查

目的：调查我国围产儿双胎与双胎合并出生缺陷尤其是合并神经管缺陷的发生率及其流行病学情况。方法：于1986年10月1日－1987年9月30日,对全国原29个省,市、自治区共945所城乡医院 住院分娩围产儿,进行了双胎出生率的调查及统一标准的出生缺陷前瞻性的监测,结果：全年共生围产儿1243284名,其中双胎12715对,双胎发生率为10．23％,双胎中出生缺陷发生率为36．81‰,其中神经管缺陷最为高发,为5．27‰,双胎的发生无南北地域及城乡的差异,多发生在生育期高峰年龄（20－29）岁,初产多见,1年中10,11月份出生的发生率高,双胎合并出生缺陷亦无明显南北地域及城乡差异,多发生在20－39岁,无产次及季节的差异;双胎合并神经管缺陷多见于北方诸省及农村人口,其发生与年龄及产次无明显关系;但与季节密切相关,11月份高发。结论：双胎合并出生缺陷,尤其是合并神经管缺陷的发生率均明显高于全国总围产儿合并出生缺陷及神经管缺陷的发生率,因此对双胎妊娠应注意作产前监测。     

北京61272例新生儿出生缺陷监测结果分析

Objective: To investigate the birth defect condition in Haidian district of Beijing city, 61 272 live-born infants who were delivered in Haidian Maternal and Child Health Hospital from 2003 to the March of 2009 are analyzed. Methods: Data was collected from the hospital' s medical records and from the birth defect surveillance. Results: Among the newborns studied, 1 076 were found having birth defect (17.56‰). The most common birth defects are congenital heart defect, followed by dysmorphosis of external ear, polydactyly, hypospadia, cleft lip and palate. In addition, three birth defects that are not included in the birth defect surveillance list were enorchia, renal agenesis and giant hemangioma. The birth defect rates of preterm and small for gestational age infants are significantly higher than it of the term infants. The birth defect patterns for these two types of abnormal infants are distinct. Conclusion: We have determined the pattern of birth defects in Beijing, which may help in policy-making regarding the prevention and intervention of birth defects.     

小儿高热惊厥复发的危险因素分析

目的:研究高热惊厥的临床特点及其复发的危险因素,并提出相应的预防治疗措施。方法:对我院2004年6月～2008年6月收治的68例高热惊厥患儿的临床资料进行回顾性分析,观察记录患儿首发年龄、体温、持续时间、24h内惊厥次数、家族史等情况。结果:本组复发31例(45.6%),复发危险因素与首发年龄、初发体温、复杂型高热惊厥、持续时间、癫痫家族史有关。结论:首发高热惊厥患儿年龄越小、体温越低、惊厥持续时间越长、24h内反复发作2次以上、首发为复杂型、有热性惊厥及癫痫家族史者日后越易复发。对具有复发危险因素的患儿应进行随访,并采取干预措施,口服安定预防,治疗效果满意。     

Osteoporosis risk factors and association with somatotypes in males

BACKGROUND: Osteoporosis is a systemic and metabolic skeletal disease characterized by reduced bone mass, changes in microarchitecture, and consequential increased fracture risk. Previous reports described a relationship between bone content with fat mass and lean body mass. In this study, we assessed osteoporosis risk factors and the association with somatotypes in males aged 45-65 years. METHODS: Standard axial spine and proximal femur bone mineral density (BMD) were measured using dual x-ray (DXA) absorptiometry in 70 healthy men. Heath-Carter procedure was followed to assess individual's somatotype. RESULTS: All body types were grouped as endomorphy, mesomorphy, and ectomorphy. Moderate to weak correlations were found between lumbar BMD with endomorphy and mesomorphy. Negative correlation was found between lumbar BMD and ectomorphy. Total femur BMD correlated positively with endomorphy and mesomorphy and negatively correlated with ectomorphy. Body mass index correlated weakly with lumbar, femur neck, and total femur BMD. Multiple regression analysis revealed that endomorphy was significantly related to BMD measurements at lumbar spine (standardized coefficient, SC = 0.51, p = 0.001), femur neck (SC = 0.52, p = 0.001), and total femur BMD (SC = 0.41, p = 0.01). Lumbar BMD and age, hand grip strength, smoking, tea and coffee consumption, calorie expenditure, calcium intake, PTH, albumin, total protein, sex hormone-binding globulin, and testosterone were not significantly correlated. CONCLUSIONS: Endomorphy seems related to high BMD values at the lumbar spine and the proximal femur in middle-aged men. Somatotype together with daily calorie expenditure may be taken into account when assessing risk factors for male osteoporosis.     

济宁市育龄妇女出生缺陷KAP现状及其影响因素

目的 通过调查济宁地区育龄妇女对孕前及孕期相关知识的掌握情况、态度及行为,了解影响该地区出生缺陷发生率的主要因素,为相关部门进行干预提供依据.方法 自行设计调查问卷并于2018年3月-4月抽取在济宁市附属医院产科门诊就诊的422名孕妇或准备怀孕的育龄妇女进行调查.结果 济宁市育龄妇女对于出生缺陷的知识、态度、行为(KA...     

人工生殖技术与生育权的实现

人工生殖技术是生殖领域的一次革命,它为不育夫妇提供了伦理关怀和技术支持,帮助他们实现了人类与生俱来的基本权利--生育权,医学实践证明人工生殖不存在遗传缺陷,其不仅不违背现代伦理观念,而且有助于实现伦理规范的终极目标-最大多数人的最大幸福,人工生殖技术应该得到社会的认可和法律的保护.     

Three generations of matrilineal excess of birth defects in Irish families with neural tube defects

Background

Neural tube defects (NTDs) and birth defects overall are more likely to occur among maternal compared to paternal relatives in two generations (uncles/aunts and first cousins) of Irish families where an individual has been born with an NTD.

Aims

The aim of this study was to determine if the matrilineal excess persisted into the third generation.

Methods

First cousins were interviewed about their pregnancy outcomes and their offsprings’ health.

Results

Maternal first cousins once removed (FCOR) were more likely to have birth defects than paternal FCOR: 6.7 versus 3.5% (adjusted odds ratio 1.49, 95% CI 0.57, 3.89). No NTDs occurred. Folic acid supplementation significantly reduced the risk of birth defects (P = 0.04).

Conclusions

This study demonstrates an excess of birth defects among maternal relatives in three consecutive generations of NTD families, and supports the hypothesis that an underlying mechanism links distant maternal relatives in at least some NTD families.

     

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.