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PubMed2003

Prevalence of birth defects and rubella infection in pregnant women in Gansu, west China. A survey.

OBJECTIVE: To determine the incidence, disease types, sequence of birth defects and prevalence of IgG and IgM in rubella infection in prepregnancy and pregnancy within 3 months in Gansu, People's Republic of China, and to determine a baseline of birth defects for an intervention project on birth defects in Gansu. STUDY DESIGN: Liveborn and stillborn infants from January 1, 2001, to January 1, 2002, and 518 prepregnant and 373 pregnant women in 3 months in 4 counties, including 42 communities selected random by stratification cluster sampling for a survey on the economic and geographic features in the province in October 2001 were investigated. Every infant born in the study period was surveyed. The types of birth defects were classed by standard diagnostic codes (ICD-9). Five-milliliter blood samples were obtained from every prepregnant and pregnant women. Rubella IgG and IgM were measured by enzyme-linked immunosorbent assay. RESULTS: The overall number of birth defects in Gansu was 102 (16.35%). The incidence of birth defects by sex was 62 males (18.55%) and 40 females (13.9%). The types of birth defects were neural tube defect, 44 cases (7.07%); limb defects, 13 (2.09%); cleft lip and palate, 5 (0.8%); and Down syndrome, 3 (0.48%). Low birth weight occurred in 31 cases (4.98%). The seasonal incidence birth defects was spring, 24 cases (23.52%); summer, 31 (30.39%); autumn, 26 (25.49%); and winter, 21 (20.59%). There were significant differences between 4 counties. The death rate from birth defects was 48 cases (47.06%). The positive rates of IgM and IgG of rubella infection of prepregnant women were, respectively, 5.02% and 83.78%; in pregnant women they were, respectively, 2.41% and 86.33%. The seropositive rate of rubella infection of prepregnancy was 88.80%; that of pregnancy was 88.74%. CONCLUSION: The rate of rubella infection in prepregnant and pregnant women within 3 months in Gansu was one of the highest in the People's Republic of China. The rate of birth defects in Gansu was one of much higher than in the People's Republic of China as a whole.

Adult↗
PubMed1983

Birth defects monitoring.

Population monitoring of birth defects provides a means for detecting relative changes in their frequency. Many varied systems have been developed throughout the world since the thalidomide tragedy of the early 1960s. Although it is difficult to pinpoint specific teratogenic agents based on rises in rates of a particular defect or a constellation of defects, monitoring systems can provide clues for hypothesis testing in epidemiological investigations. International coordination of efforts in this area resulted in the founding of the International Clearinghouse for Birth Defects Monitoring Systems (ICBDMS) in 1974. In this paper we will describe the functions and basic requirements of monitoring systems in general, and look at the development and activities of the ICBDMS. A review of known and suspected environmental teratogenic agents (eg, chemical, habitual, biological, physical, and nutritional) is also presented.

Abnormalities, Drug-Induced↗
PubMedDate not supplied

Linking environmental hazards and birth defects data.

The authors describe methods for linking birth certificate and birth defect registry data to potential environmental hazards and assess potential confounding factors. Cases of selected birth defects from the Texas Birth Defects Registry were linked to their respective birth/ fetal death records. Comparison births were randomly selected from the 1996-2000 Texas birth records. Maternal addresses were related through a geographic information system to boundaries of hazardous waste sites and point locations of industries. Approximately 89% of maternal addresses of case births and 88% of comparison births were successfully related in distance to these sites and industries. Maternal characteristics associated with living within one mile of these sites included belonging to any group besides non-Hispanic white and having lower education attainment (< 16 years) or a residence within the city limits. In linking environmental and health outcome databases, researchers should be aware of factors that may confound associations between exposure and outcomes.

Adult↗
PubMed2001

Sources of variability in birth defects prevalence rates.

BACKGROUND: The characteristics and methodologies of state-based birth defect surveillance systems might influence reported prevalence rates, making comparisons among states difficult. Standardizing methods to minimize variability beyond true differences in prevalence will aid national surveillance efforts and birth defects prevention programs. METHODS: Using data provided in the January 2000 Congenital Malformations Surveillance Report from the National Birth Defects Prevention Network, we characterized the surveillance methodologies among all sites. We then identified prevalence rates that are highly varied among systems that use each of our specified methodologies. We also examined the standards used by other collective health registries that exist across geographical boundaries. RESULTS: Large differences in prevalence rates across case ascertainment methods (active, passive, or combination of both) were observed for some conditions, but not for others. We identified additional factors which may influence prevalence rates, including case ascertainment sources, case inclusion criteria, and inclusion of elective terminations and stillbirths. The impact of each of these factors on prevalence rates may be defect-specific. CONCLUSIONS: We conclude that while some variability is expected due to differences in the true prevalence of birth defects, extreme differences among states are more likely due to differences in surveillance practices. The Birth Defects Prevention Act prompted new initiatives to develop birth defect surveillance systems, but there are no nationally agreed upon standards in existence to guide the process. This study was performed in support of developing standards that will influence new and existing state surveillance systems.

Congenital Abnormalities↗
PubMed1994

Birth defects--the state of awareness amongst mothers.

Birth defects have in recent years become the major cause of perinatal morbidity and mortality. The incidence of birth defects is between 2% to 6% of all live births. However, from a survey carried out in Singapore General Hospital (SGH), the majority of mothers enter pregnancy without realising the risks that they or their offspring may face. Only 20% to 25% of mothers were aware of the actual incidence of birth defects, and only 2.5%-10% knew that the risk of Down Syndrome (DS) increases with maternal age. However, the use of ultrasound is now well accepted and is considered a necessary investigation by 90% of the mothers surveyed.

Congenital Abnormalities↗
PubMed1992

A case-control study of paternal smoking and birth defects.

Although the influence of paternal smoking on birth defects is of great public interest, epidemiological evidence concerning this potential relationship is extremely limited. A stratified random sample of 29 hospitals in the Shanghai Municipality, China, was used to select 1012 birth defects cases and controls. Mothers of the cases and controls were interviewed in the hospitals from October 1986 to September 1987. A modest relationship between paternal smoking and overall birth defects in offspring was identified [odds ratio (OR) = 1.21, 95% confidence interval (CI): 1.01-1.45]. More markedly elevated risks were identified for anencephalus (OR = 2.1), spina bifida (OR = 1.9), pigmentary anomalies of the skin (OR = 3.3) and varus/valgus deformities of the feet (OR = 1.8). Our analysis also shows that paternal smoking is more likely to be associated with multiple rather than isolated malformations. A paternally-mediated effect of smoking on birth defects is suggested and further studies are encouraged.

Adult↗
PubMed2006

Improved national prevalence estimates for 18 selected major birth defects--United States, 1999-2001.

Continuing efforts are needed to improve surveillance for birth defects, which are the leading cause of infant mortality in the United States. Although state and local surveillance data indicate that approximately 3% of births are affected by any of 45 birth defects, no national estimates based on population-based birth defects surveillance have been available for specific types of birth defects other than neural tube defects (spina bifida and anencephaly). This report describes estimates of national prevalence and number of affected births in the United States each year during 1999-2001 for 18 selected major birth defects. The findings indicated that 10 of the 18 defects affected more than 1,000 infants each year in the United States. The conditions with the highest prevalence included orofacial clefts, which affect approximately 6,800 infants annually, and Down syndrome, which affects approximately 5,500 infants annually. Population-based national prevalence estimates of birth defects can help determine resource needs for basic and public health research and assist in planning for the health-care and educational needs of the U.S. population.

Congenital Abnormalities↗
PubMed2004

Epidemiologic approaches to identifying environmental causes of birth defects.

Epidemiology can be used to elucidate environmental causes of birth defects. This paper discusses 1) different types of environmental causes; 2) the difficulties in comparing the prevalence of birth defects between populations, including the need for a population base and the implications of prenatal diagnosis; 3) the main study designs for observational epidemiological studies and the various sources of bias; 4) how statistical power can be increased by meta-analysis or multicentric studies, and improved grouping of birth defects into etiologically more homogeneous subgroups; 5) the distinction between association and causation; 6) the interpretation of clusters in time and space in relation to local environmental causes; and 7) the potential of genetic epidemiology to help elucidate environmental causes. While further research continues into the environmental causes of birth defects, the epidemiologic evidence base for policy making and clinical practice is poor in many areas. The epidemiologic approach is important not only to elucidate environmental causes but also to assess the implementation of existing research into policy and practice for the prevention of birth defects.

Adult↗
PubMed2002

Birth defects, season of conception, and sex of children born to pesticide applicators living in the Red River Valley of Minnesota, USA.

We previously demonstrated that the frequency of birth defects among children of residents of the Red River Valley (RRV), Minnesota, USA, was significantly higher than in other major agricultural regions of the state during the years 1989-1991, with children born to male pesticide applicators having the highest risk. The present, smaller cross-sectional study of 695 families and 1,532 children, conducted during 1997-1998, provides a more detailed examination of reproductive health outcomes in farm families ascertained from parent-reported birth defects. In the present study, in the first year of life, the birth defect rate was 31.3 births per 1,000, with 83% of the total reported birth defects confirmed by medical records. Inclusion of children identified with birth or developmental disorders within the first 3 years of life and later led to a rate of 47.0 per 1,000 (72 children from 1,532 live births). Conceptions in spring resulted in significantly more children with birth defects than found in any other season (7.6 vs. 3.7%). Twelve families had more than one child with a birth defect (n = 28 children). Forty-two percent of the children from families with recurrent birth defects were conceived in spring, a significantly higher rate than that for any other season. Three families in the kinships defined contributed a first-degree relative other than a sibling with the same or similar birth defect, consistent with a Mendelian inheritance pattern. The remaining nine families did not follow a Mendelian inheritance pattern. The sex ratio of children with birth defects born to applicator families shows a male predominance (1.75 to 1) across specific pesticide class use and exposure categories exclusive of fungicides. In the fungicide exposure category, normal female births significantly exceed male births (1.25 to 1). Similarly, the proportion of male to female children with birth defects is significantly lower (0.57 to 1; p = 0.02). Adverse neurologic and neurobehavioral developmental effects clustered among the children born to applicators of the fumigant phosphine (odds ratio [OR] = 2.48; confidence interval [CI], 1.2-5.1). Use of the herbicide glyphosate yielded an OR of 3.6 (CI, 1.3-9.6) in the neurobehavioral category. Finally, these studies point out that (a) herbicides applied in the spring may be a factor in the birth defects observed and (b) fungicides can be a significant factor in the determination of sex of the children of the families of the RRV. Thus, two distinct classes of pesticides seem to have adverse effects on different reproductive outcomes. Biologically based confirmatory studies are needed.

Adult↗
PubMed2002

Methods for a public health response to birth defects clusters.

Few resources are available to guide public health officials in investigations of reported birth defects clusters. The majority of published resources focus on the investigation of cancer and infectious disease clusters and do not address clinical and epidemiologic concerns specific to birth defects research. This document aims to address these concerns, discuss the needs of the affected community, and provide suggestions for the development of a standardized protocol to be used as a guide in the investigation of birth defects clusters. We suggest that health departments and birth defects registries that may receive reports of birth defects clusters establish a protocol for responding that includes the following steps: develop a proactive plan for future birth defects cluster reports (step I), receive report of a birth defects cluster (step II), verify diagnoses and complete case ascertainment (step III), compare the observed rate to a reference rate (step IV), ascertain exposures among cases from available records (step V), interview case mothers (step VI), initiate further epidemiologic study-selection of controls (step VII), and communicate results to the community (step VIII). Specific criteria for continuing or terminating an investigation should be established before receiving cluster reports. The recommendations in this report should be carefully considered to ensure that the specific needs of the region, agency and affected community are met.

Clinical Protocols↗
PubMed2006

Paternal age and birth defects: how strong is the association?

BACKGROUND: Although the association between maternal age and the risks of birth defects has been well studied, the evidence from population data linking paternal age with birth defects was limited and inconsistent. METHODS: We conducted a population-based retrospective cohort study of 5,213,248 subjects from the 1999-2000 birth registration data of the USA. Multiple logistic regressions were used to estimate the independent effect of paternal age on all birth defects and 21 specific defects groups after adjusting for potential confounding of maternal age, race, education, marital status, parity, prenatal care initiation, maternal smoking and alcohol drinking during pregnancy. RESULTS: A total of 77,514 (1.5%) birth defects were recorded in the study cohort. The adjusted odds ratios were 1.04 (1.01, 1.06), 1.08 (1.04, 1.12), 1.08 (1.02, 1.14) and 1.15 (1.06, 1.24), respectively, for infants born to fathers 30-35, 40-44, 45-49 and over 50 years (test for trend, P = 0.0155), when compared with those infants born to fathers aged 25-29 for any birth defect. Advanced paternal age was associated with increased risks of heart defects, tracheo-oesophageal fistulaoesophageal atresia, other musculoskeletal/integumental anomalies, Down's syndrome and other chromosomal anomalies. Fathers under 25 years of age were also at increased risks of spina bifida/meningocele, microcephalus, omphalocele/gastroschisis and other musculoskeletal/integumental anomalies. CONCLUSIONS: Infants born to older fathers have a slightly increased risk of birth defects. Young paternal age is also associated with slightly increased risk of several selected birth defects in their offspring. However, given the weak association, paternal age appears to play a small role in the aetiology of birth defects.

Adult↗
PubMed1985

A developmental approach to the classification of birth defects.

Surgeons are accustomed to categorizing the birth defects they treat surgically according to morphology rather than pathogenesis. Commonly used classification systems fail to take into account the cause or developmental pathology of a given structural defect. Furthermore, surgeons often select operative procedures without considering the evolution of specific defects. Dysmorphology is a fairly new discipline that seeks a better understanding of the cause and pathogenesis of birth defects, not only to ensure optimum treatment but also to encourage prevention of birth defects.

Abnormalities, Multiple↗
PubMed2006

[Capacity of monitoring system on birth defects during 1990s in China].

OBJECTIVE: To understand the status and capacity of monitoring system on birth defects in China. METHODS: Data regarding 27 groups of birth defects from 57 monitoring programs in World Atlas of Birth Defects (2nd Edition) published by WHO/ICBDMS/EUROCAT/HGP and descriptive analysis by their ranking and contribution were carried out. RESULTS: Both hospital-based (Chinese Birth Defects Monitoring Network, CBDMN) and population-based (Birth Defect Surveillance System in Thirty Counties of Four Provinces, Beijing) monitoring systems showed the same characteristics as below: (1) Not enough groups were monitored, with trisomy 13/18 and congenital heart disease not reported. (2) Prevalence on those 'easily observed' group was high and cleft lip with or without cleft palate in CBDMN ranked 5 among 57 programs, with similar situation in polydactyly. (3) While prevalence rates of internal system and choromosal anomaly were low, CBDMN ranked 56 with Beijing the only non-reported city among all the 57 programs. (4) Unreasonable relationship was seen with prevalence of cleft lip was 5.76,4.02 times higher than that of cleft palate in CBDMN and in Beijing program. Which was 1.58 times of the world's means. Prevalence rates of anencephaly and total anotia/microtia rose 10.39% while spina bifida, hydrocephaly, and gastroschisis had a 4%-5% increase. The prevalence of hypospadias decreased by 4.13% and Down syndrome by 3.02%. CONCLUSION: The capacity of birth defects monitoring, both hospital-based and population-based, was poor in the 1990s, in China.

Capacity Building↗
PubMed2005

Sex differences in birth defects: a study of opposite-sex twins.

BACKGROUND: Sex differences in structural birth defects are often confounded by environmental risk factors. Opposite-sex twins provide a unique model for detecting sex differences in birth defects while maximally controlling environmental risk factors in a natural setting. METHODS: Population data from the Florida Birth Defects Registry were analyzed. A total of 4,768 pairs of twins who were discordant for sex and born between 1996 and 2001 were analyzed. The McNemar test was used to compare the differences between a male twin and his twin sister for the risk of developing specific defects and organ-system defects. RESULTS: Of 4,768 twin pairs, 225 males (4.72%) and 175 females (3.67%) had birth defects. Among opposite-sex twin pairs, males had a 29% higher risk for birth defects than their twin sisters. Compared to their twin sisters, males had a 5.4 times higher risk for pyloric stenosis and a 2.4 times higher risk for obstructive genitourinary defect, but only one-tenth the risk for congenital hip dislocation. CONCLUSIONS: Sex differences in birth defects exist between opposite-sex twins.

Congenital Abnormalities↗
PubMed2006

Structural birth defects associated with oral clefts in Hawaii, 1986 to 2001.

OBJECTIVE: To identify structural birth defects that occur in association with oral clefts. METHODS: Data were obtained from a birth defects registry and included all infants and fetuses with cleft palate without cleft lip or cleft lip with or without cleft palate delivered from 1986 to 2001. For 47 specific structural birth defects, rates among oral cleft cases were compared with the rates among all infants and fetuses with major birth defects, excluding those with oral clefts. RESULTS: Among cleft palate only cases, the rates were significantly higher than expected for encephalocele, microcephaly, and syndactyly. Among cases of cleft lip with or without cleft palate, the rates were significantly higher than expected for anophthalmia/microphthalmia, single ventricle, reduction deformity of upper limbs, and reduction deformity of lower limbs. When cases of cleft palate only and cleft lip with or without cleft palate were compared as to the rates for particular birth defects, the rates of the defects were either higher or lower than expected in both oral cleft categories for 38 (81%) of the defects. CONCLUSIONS: Certain birth defects were more frequently associated with oral clefts than might be expected. For the majority of defects, their patterns of association were similar between cleft palate without cleft lip and cleft lip with or without cleft palate.

Anophthalmos↗
PubMed2002

Preventing birth defects with folic acid.

There a few birth defects known to be preventable, but neural tube defects (NTDs) are one group of congenital anomalies that can potentially be prevented. When 400 micrograms of maternal periconceptional folic acid is taken daily, it can prevent many neural tube-related birth defects and thus reduce morbidity and mortality due to these birth defects. Health care providers should encourage every woman of reproductive age to consume 400 micrograms of synthetic folic acid daily, not just those who are planning a pregnancy. Supplementation needs to be started prior to conception for optimal effectiveness.

Congenital Abnormalities↗
PubMed1990

Contribution of birth defects to infant mortality among racial/ethnic minority groups, United States, 1983.

Linked birth/infant death data from the National Center for Health Statistics (NCHS) for the 1983 U.S. birth cohort, the latest year for which linked data were available, were evaluated in order to assess the contribution of birth defects to infant mortality among racial/ethnic groups. Of the 34,566 singleton infant deaths with specified birth weight born to U.S. residents, birth defects were listed as an underlying cause of death for 7,678 (22.2%) infants and as a contributing cause of death for an additional 1,006 (2.9%) infants. Infant mortality rates due to birth defects were highest among American Indians (2.9 deaths/1,000 live births), followed by Asians and Hispanics (2.6), and blacks (2.5). Proportional mortality due to birth defects varied among racial/ethnic groups; it was greatest among Asians (27%), followed by whites (25%), Hispanics (24%), American Indians (18%), and blacks (13%). Also, infant mortality rates due to birth defects were high among minority infants of low birth weight, particularly among those born weighing between 1,500 and 2,499 g. Within this group of infants, proportional mortality due to birth defects ranged from 52% among Asians to 29% among blacks. These data indicated that birth defects were an important contributor to infant mortality among all racial/ethnic groups. Birth-defects surveillance systems should be used to evaluate whether racial/ethnic differences in infant mortality from birth defects are due to differences in incidence and/or survival among minority infants with birth defects.

Black People↗
PubMed2002

Contribution of birth defects to infant mortality in the United States.

BACKGROUND: While overall infant mortality rates (IMR) have declined over the past several decades, birth defects have remained the leading cause of infant death in the United States. To illustrate how this leading cause of infant mortality impacts subgroups within the US population a descriptive analysis of the contribution of birth defects to infant mortality at the national and state level was conducted. METHODS: Descriptive analyses of birth defects-specific IMRs and proportionate infant mortality due to birth defects were conducted for the US using 1999 mortality data from the National Center for Health Statistics. In 1999, the change to ICD-10 impacted how cause-specific mortality rates were coded. Aggregated 1995-1998 state- birth defects infant death statistics were used for state comparisons. RESULTS: In 1999, birth defects accounted for nearly 1 in 5 infant deaths in the US. Variation in birth defects-specific IMRs were observed by maternal race with black infants having the highest rates when compared with other race groups. However, among black infants prematurity/low birthweight was the leading cause of death, followed by birth defects. There is substantial variation in state-specific birth defects IMRs and the state-specific proportion of infant deaths due to birth defects. CONCLUSIONS: Birth defects remain the leading cause of infant death in the United States, despite the changes that resulted in 1999 from an update in the coding of cause of death from ICD-9 to ICD-10. While birth defects-specific IMRs provide an overall picture of fatal birth defects and a gauge of the impact of life-threatening anomalies, they represent only a fraction of the impact of birth defects, missing those who survive past infancy and those birth defects related losses in the antepartum period. Expansion and support of effective birth defects monitoring systems in each state that include the full spectrum of perinatal outcomes must be a priority. However, paralleling these efforts, analyses of this leading cause of infant mortality provide critical insight into perinatal health and should continue, with appropriate adjustments for the 1999 classification changes.

Black or African American↗