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PubMed2002

Malformations in newborn: results based on 30,940 infants and fetuses from the Mainz congenital birth defect monitoring system (1990-1998).

Prevalence rates of birth defects in the Federal Republic of Germany are informative to assess the general background risk of having a child with a birth defect. They provide basic figures to determine temporal and regional prevalence trends, to evaluate and initiate preventive measures and to initiate research projects. To avoid observer, definition and collection bias, active monitoring systems are required. Data collected in the active monitoring system of the Mainz Birth Defects Registry are presented. From 1990-1998, 30,940 live-births, stillbirths and abortions underwent standardized physical and sonographic examinations. Anamnestic data were collected from prenatal care records, maternity files and hospital records. Major malformations were diagnosed in 2144 (6.9%) and mild errors of morphogenesis in 11,104 (35.8%) of all infants. Risk factors associated with the occurrence of major malformations were identified by comparing anamnestic data from infants with and without major malformations. Using multivariate regression models, statistically significant associations were established for 9 risk factors. Causally related risk factors were parents or siblings with malformations, parental consanguinity, more than 3 minor errors of morphogenesis in the proband, maternal diabetes mellitus and ingestion of antiallergic drugs in the first trimester of pregnancy. Conjunctional risk factors were polyhydramnios, oligohydramnios and gestational age <32 weeks at birth. Using these risk factors, populations at risk for the occurrence of major malformation can be identified.

Cohort Studies↗
PubMed2005

Analysis of seasonal variation of birth defects in Atlanta.

BACKGROUND: Compared with analyses of temporal trends, analyses of seasonal variations in the prevalence of birth defects have been more limited and have provided less consistent information. Possible reasons for this lack of consistency in findings include differences in populations, underlying factors, seasons or climates, and methods of ascertainment and analysis between studies. This study examines possible seasonal variation in the prevalence of selected birth defects in a defined study population using graphical displays and three statistical methods. METHODS: Cases were infants and fetal deaths in nine birth defect groups born to residents of mothers in five counties of metropolitan Atlanta during the period of 1978-2001 and ascertained by the Metropolitan Atlanta Congenital Defects Program. These birth defect groups were anencephaly, spina bifida, total neural tube defects, cleft palate, cleft lip with or without cleft palate, anomalies of the pulmonary valve, anomalies of the aortic valve, hypoplastic left heart syndrome, and congenital dislocation of the hip. We pooled monthly case counts and calculated monthly rates for each of these birth defect groups for five different birth periods: 1978-2001, 1978-1989, 1990-2001, 1990-1994, and 1995-2001. We applied the Cochran-Armitage test for trend to rule out homogeneity in pooled monthly rates. Data for each defect group were examined for possible seasonal (i.e., cyclical) variation overall and within the cited birth periods using the Hewitt-Rogerson test and the Walter-Elwood test. RESULTS: Graphical analyses of the pooled monthly rates showed no apparent seasonal patterns for any of the nine defect groups examined. Statistical tests for seasonality suggested possible seasonality for three defect groups: the Hewitt-Rogerson test was statistically significant for anencephaly (peak March-August, p = 0.048),while the Walter-Elwood test was significant for anomalies of the pulmonary valve (peak September, p = 0.02), and anomalies of the aortic valve (peak July, p = 0.039). With both methods, the results appeared to be influenced by the choice of time (i.e., birth) period. Results for anomalies of the pulmonary valve were statistically significant and more consistent with all tests in most of the time periods examined. CONCLUSIONS: Graphical analyses and basic statistical tests for seasonality showed no consistent evidence of seasonality for any of the nine defect groups examined, except for anomalies of the pulmonary valve. The two basic statistical methods coupled by a trend test for exploring seasonal patterns of the prevalence of birth defects can be useful for preliminary analyses of possible seasonal patterns. However, these methods have some limitations: (1) an assumption of no strong temporal trend over the study years, and (2) the results can vary by time period chosen. For specific hypotheses regarding seasonality, a more robust analytical approach such as time-series analysis might be more appropriate.

Anencephaly↗
PubMed1988

"Rates" of birth defects.

The proportion of children born with a particular defect is not a "birth defect rate" but, rather, a prevalence proportion. The implications of confusing a rate and a proportion are discussed in terms of the interpretation of birth defect data. It is recommended that "prevalence proportion" or "prevalence" be used to report the frequency of various defects rather than the often-used "prevalence rate."

Biometry↗
PubMed2002

Review of recent epidemiological studies on paternal occupations and birth defects.

The main findings reported by recent epidemiological studies on paternal occupations and birth defects are reviewed, and the main limitations associated with these studies discussed. Epidemiological studies on paternal occupations and birth defects were reviewed for the period 1989 to 1999 inclusive. Systematic searches were made with search engines with related keywords. There were several common paternal occupations that were repeatedly reported to be associated with birth defects. These paternal occupations were janitors, painters, printers, and occupations exposed to solvents; fire fighters or firemen; and occupations related to agriculture. The common weaknesses in most of these studies include inaccurate assessment of exposures, different classification systems, different inclusion criteria of birth defects, and low statistical power. It is concluded that epidemiological studies, reported in the past decade, suggest that several common paternal occupations are associated with birth defects. Future studies could be focused on these specific, rather than general, occupational groups so that causative agents may be confirmed and thus enable appropriate preventive measures to be taken.

Bias↗
PubMedDate not supplied

The spatial relationship between infant mortality and birth defect rates in a U.S. city.

The spatial patterns of infant mortality and birth defect rates in the Des Moines, Iowa, urban region are described as a contoured surface based on the punctual kriging of address-matched vital statistics records from The Iowa Department of Public Health. Areas defined as having high rates are shown to be sensitive to the size of the spatial filtering units. There is no correlation between infant mortality and birth defect rates in the region. The significance of areas with high rates is determined by a Monte Carlo simulation procedure. One area of high infant mortality is found in the region, which contrasts with many smaller areas with high birth defect rates in the region. The observed birth defect rate pattern is consistent with the hypothesis that each birth was equally likely to result in a birth defect, while the infant mortality pattern is unlikely to be the result of such an equal likelihood process.

Congenital Abnormalities↗
PubMed2006

Use of prenatal diagnostic procedures in pregnancies affected with birth defects, Hawaii, 1986-2002.

BACKGROUND: Information on the utilization of prenatal ultrasound (US), amniocentesis (AC), and chorionic villus sampling (CVS) in pregnancies affected by birth defects in the United States is limited. The intent of this study was to report on the utilization of these procedures in Hawaii. METHODS: Cases were all infants and fetuses of any pregnancy outcome with birth defects, included in a Hawaii birth defects registry, and delivered during 1986-2002. The rates of prenatal US, AC/CVS, and prenatal diagnosis were calculated. RESULTS: Prenatal US was performed in 76% of the cases and AC/CVS in 14% of the cases. Prenatal diagnosis of a birth defect was made in 16% of the cases. The prenatal US, AC/CVS, and prenatal diagnosis rates in 1998-2002 were 1.5, 1.5, and 1.7 times the rates in 1986-1991, respectively. Among all birth defects, the AC/CVS rate for women aged <35 years was 7% and for women aged > or =35 years was 48%. Among chromosomal abnormalities, the AC/CVS rate for women aged <35 years was 36% and for women aged > or =35 years was 66%. CONCLUSIONS: Only a fraction of the Hawaii birth defects cases was prenatally diagnosed. The rates for prenatal US, AC/CVS, and prenatal diagnosis among pregnancies affected by birth defects were higher in 1998-2002 than in 1986-1991. AC/CVS rates were lower for maternal age <35 years.

Adult↗
PubMed2003

Residence near power lines and the risk of birth defects.

BACKGROUND: There has been some concern that exposure to electromagnetic fields may cause birth defects. We studied risks of birth defects by residential exposure to 50-Hz magnetic fields from power lines. METHODS: We estimated the distance between residence and power lines for 161,844 Norwegian residences, and their corresponding magnetic fields in the period 1980 to 1997. Risks of 24 categories of birth defects were compared across exposure levels, adjusting for social and demographic variables. RESULTS: Among those living near power lines, the greatest reductions in risk were for cardiac defects (odds ratio = 0.5; 95% confidence interval = 0.3-0.9) and respiratory defects (0.4; 0.2-0.9). The largest increase in risk was for esophageal defects (2.5; 1.0-5.9). Other associations were weaker and had wide confidence intervals. CONCLUSIONS: There was little evidence that residence near power lines affected the risk of birth defects. The observed decreased risks of cardiac and respiratory defects and the increased risk of esophageal defects should be interpreted with caution given the number of endpoints, the imprecision in the calculations of the distance from the residence to the power line, and the limited information on pregnant women's change of residence.

Abnormalities, Radiation-Induced↗
PubMed2003

Guidelines for case classification for the National Birth Defects Prevention Study.

BACKGROUND: Previous studies have suggested that etiologic heterogeneity may complicate epidemiologic analyses designed to identify risk factors for birth defects. Case classification uses knowledge of embryologic and pathogenetic mechanisms to make case groups more homogeneous and is important to the success of birth defects studies. METHODS: The goal of the National Birth Defects Prevention Study (NBDPS), an ongoing multi-site case-control study, is to identify environmental and genetic risk factors for birth defects. Information on environmental risk factors is collected through an hour-long maternal interview, and DNA is collected from the infant and both parents for evaluation of genetic risk factors. Clinical data on infants are reviewed by clinical geneticists to ensure they meet the detailed case definitions developed specifically for the study. To standardize the methods of case classification for the study, an algorithm has been developed to guide NBDPS clinical geneticists in this process. RESULTS: Methods for case classification into isolated, multiple, and syndrome categories are described. Defects considered minor for the purposes of case classification are defined. Differences in the approach to case classification for studies of specific defects and of specific exposures are noted. CONCLUSIONS: The case classification schema developed for the NBDPS may be of value to other clinicians working on epidemiologic studies of birth defects etiology. Consideration of these guidelines will lead to more comparable case groups, an important element of careful studies aimed at identifying risk factors for birth defects.

Adult↗
PubMed2007

Hospital stays, hospital charges, and in-hospital deaths among infants with selected birth defects--United States, 2003.

Birth defects (BDs) are conditions that 1) result from a malformation, deformation, or disruption in one or more parts of the body; 2) are present at birth; and 3) have a serious, adverse effect on health, development, or functional ability. BDs are leading causes of pediatric hospitalizations, medical expenditures, and infant mortality. To estimate national hospital charges and rates of in-hospital deaths for a greater number of specific BDs than estimated in previous reports, investigators at the University of Arkansas for Medical Sciences and CDC used the Healthcare Cost and Utilization Project 2003 Kids' Inpatient Database (KID), developed and distributed by the Agency for Healthcare Research and Quality. KID is a 10% sample of hospital discharges after uncomplicated births and an 80% sample of all other pediatric discharges from 36 participating states. Data are weighted to represent all pediatric hospitalizations in the United States. The investigators analyzed hospital stays during 2003 for newborn infants with any of 35 BDs. This report describes the results of that analysis, which indicated substantial variation among BDs regarding average length of stay, average hospital charge, and the incidence of in-hospital deaths. Average length of stay was greatest for infants with surgically repaired gastroschisis or omphalocele. Average hospital charges were highest for infants with hypoplastic left heart syndrome and common truncus arteriosus. Although anencephaly, trisomy 13, and trisomy 18 were associated with the highest rates of in-hospital death, the largest total numbers of deaths associated with neonatal hospitalizations occurred in infants with diaphragmatic hernia and renal agenesis. Further studies are needed to distinguish outcomes for infants with isolated and multiple defects and to assess longer-term outcomes.

Congenital Abnormalities↗
PubMed2004

Free radicals and birth defects.

Maternal diabetes significantly increases the risk for birth defects. Studies using animal models indicate that oxidative stress may play a causative role. Oxidative stress can result from exposure to certain drugs, ionizing radiation and folic acid deficiency. Therefore, study of the mechanisms by which maternal diabetes affects embryogenesis may provide insight into general processes by which birth defects occur. Study of embryonic gene expression has demonstrated that maternal diabetes causes birth defects by disturbing expression of genes that control essential developmental processes, and that oxidative stress is involved. A model in which oxidative stress-induced deficient gene expression leads to congenital defects involving p53-dependent apoptosis is discussed.

Animals↗
PubMed2006

Comparison of residential geocoding methods in population-based study of air quality and birth defects.

Our population-based case-control study of air quality and birth defects in Texas relied on the geocoding of maternal residence from vital records for the assignment of air pollution exposures during early pregnancy. We attempted to geocode the maternal addresses for 5,338 birth defect cases and 4,574 frequency-matched controls using an automated procedure with standard matching criteria in ArcGIS 8.2 and 8.3. Initially, we matched 7,266 observations (73%). To increase the proportion of successful matches, we used an interactive procedure for the 2,646 addresses that were initially not geocoded by the software. This yielded an additional 985 matches (37%). Using the same 2,646 initially unmatched addresses, we compared the results of this interactive procedure to those of an automated procedure using lower standards. The automated procedure with lower standards yielded more matches (n=1,559, 59%) but with questionable accuracy. We included the interactively geocoded observations in our final data set. Their inclusion did not affect the estimates of air pollution exposure but increased our statistical power to detect associations between air quality and risk of selected birth defects. The geocoded and not geocoded populations differed in the distribution of Latino ethnicity (51% vs 59%) and ethnicity was independently associated with air pollution exposures (P<0.05). Geocoding status also appeared to modify the association between ethnicity and risk of birth defects; Latina women appeared to have a slightly lower risk of birth defects than non-Latina women in the geocoded population and to have a slightly higher risk in the not geocoded population. Incomplete geocoding may have resulted in a selection bias because of the under-representation of Latinas in our study population.

Air Pollutants↗
PubMed2006

Problems in using birth certificate files in the capture-recapture model to estimate the completeness of case ascertainment in a population-based birth defects registry in New York State.

BACKGROUND: The limitations and underlying assumptions of the capture-recapture methods have hindered their application in epidemiological settings, especially in evaluating the completeness of birth defects registries. This study explored the possibility of using birth certificates as the secondary data source in a simple two-source capture-recapture model to estimate the completeness of case ascertainment of the Congenital Malformations Registry (CMR) for selected major birth defects. METHODS: The CMR and the birth certificates were used as the primary and secondary sources, respectively. Children who were born in 1996-2001 and had selected major birth defects were identified from the two sources. The accuracy of the diagnoses was examined by comparing the individual birth defect categories of the children from the two sources. RESULTS: Discrepancies in birth defect categories in the two data sources and false positives in the birth certificates were the major problems encountered in estimating the completeness of the CMR using the simple two-source capture-recapture method. The estimated completeness for selected major birth defects was only about 71%. Stratified analyses resulted in relatively high estimated completeness for oral clefts (90%) and Down syndrome (88%). CONCLUSIONS Although the birth certificate data was not a good source for estimating the completeness of case ascertainment of the CMR using capture-recapture methods, the analyses provided reasonable estimates for some conditions that were relatively easy to identify and diagnose at birth, such as oral clefts and Down syndrome.

Birth Certificates↗
PubMed1997

The risk of birth defects among children of Persian Gulf War veterans.

BACKGROUND: There has been suspicion that service in the Persian Gulf War affected the health of veterans adversely, and there have been claims of an increased rate of birth defects among the children of those veterans. METHODS: We evaluated the routinely collected data on all live births at 135 military hospitals in 1991, 1992, and 1993. The data base included up to eight diagnoses from the International Classification of Diseases, 9th Revision, Clinical Modification (ICD-9-CM) for each birth hospitalization, plus information on the demographic characteristics and service history of the parents. The records of over 75,000 newborns were evaluated for any birth defect (ICD-9-CM codes 740 to 759, plus neoplasms and hereditary diseases) and for birth defects defined as severe on the basis of the specific diagnoses and the criteria of the Centers for Disease Control and Prevention. RESULTS: During the study period, 33,998 infants were born to Gulf War veterans and 41,463 to non-deployed veterans at military hospitals. The overall risk of any birth defect was 7.45 percent, and the risk of severe birth defects was 1.85 percent. These rates are similar to those reported in civilian populations. In the multivariate analysis, there was no significant association for either men or women between service in the Gulf War and the risk of any birth defect or of severe birth defects in their children. CONCLUSIONS: This analysis finds no evidence of an increase in the risk of birth defects among the children of Gulf War veterans.

Adult↗
PubMed2004

[Incidence of birth defects in children of mothers using medications in the 1st trimester of pregnancy in the Czech Republic 1996-2002].

OBJECTIVE: To process the results on the incidence of birth defects in the children of mothers using medicines in the first trimester of pregnancy in the Czech Republic during 1996-2002. DESIGN: A retrospective analysis of data from the National Register of birth Defects in the Czech Republic. METHODS: The data from the nationwide register of birth defects administrated in the Institute of Health Information and Statistics of the Czech Republic for the period 1996-2002 were used for the study. The data on the incidences of selected types of birth defects identified in children born to mothers using medicines in the first trimester of pregnancy were compiled and an analysis of these medicines was carried out in relation to the diagnosed types of birth defects. The data on healthy children born to mothers using medicines during the 1st trimester of pregnancy were used as the control sample. RESULTS: In our retrospective analysis covering the years 1996-2002, a total of 1,146 birth defects were identified in children of women using medication in the 1st trimester of pregnancy and a total of 891 children affected in this way were identified. CONCLUSION: The study presents the updated results of these analyses based on nationwide registration of birth defects for a seven-year period. It analyses the types of birth defects in the children of women using medication in the 1st trimester of pregnancy and the types of medicines used by these women. In our study, we have found a significantly higher incidence in the population of the children born to women using medicines in the 1st trimester of pregnancy in several cases. From among the group of cleft defects affecting the central nervous system, this concerns for example anencephalia and spina bifida, as well as congenital hydrocephalus, anophthalmy/microphthalmy, auricle abnormalities and limb reduction deformities. From these results that we produced, it is of course not possible to draw significant conclusions with a clinical impact. However, pregnant women should avoid any medicines in the first trimester of pregnancy, except for those cases, which are strictly indicated from the medical point of view and which are recognised as reasonably safe. As concerns the use of other medicines, their genetic and teratogenic risk should be assessed comprehensively by a specialised clinical geneticist on a case-by-case basis.

Abnormalities, Drug-Induced↗
PubMed2003

Maternal obesity and risk for birth defects.

OBJECTIVE: Several studies have shown an increased risk for neural tube defects associated with prepregnancy maternal obesity. Because few recent studies have examined the relation between maternal prepregnancy obesity and overweight and other birth defects, we explored the relation for several birth defects and compared our findings with those of previous studies. METHODS: We conducted a population-based case-control study of several selected major birth defects using data from the Atlanta Birth Defects Risk Factor Surveillance Study. Mothers who delivered an infant with and without selected birth defects in a 5-county metropolitan Atlanta area between January 1993 and August 1997 were interviewed. Maternal body mass index (BMI) was calculated from self-reported maternal prepregnancy weight and height. Women with known preexisting diabetes were excluded. The risks for obese women (BMI > or =30) and overweight women (BMI 25.0-29.9) were compared with those for average-weight women (BMI 18.5-24.9). RESULTS: Obese women were more likely than average-weight women to have an infant with spina bifida (unadjusted odds ratio [OR]: 3.5; 95% confidence interval [CI]: 1.2-10.3), omphalocele (OR: 3.3; 95% CI: 1.0-10.3), heart defects (OR: 2.0; 95% CI: 1.2-3.4), and multiple anomalies (OR: 2.0; 95% CI: 1.0-3.8). Overweight women were more likely than average-weight women to have infants with heart defects (OR: 2.0; 95% CI: 1.2-3.1) and multiple anomalies (OR: 1.9; 95% CI: 1.1-3.4). CONCLUSIONS: Our study confirmed the previously established association between spina bifida and prepregnancy maternal obesity and found an association for omphalocele, heart defects, and multiple anomalies among infants of obese women. We also found an association between heart defects and multiple anomalies and being overweight before pregnancy. A higher risk for some birth defects is yet another adverse pregnancy outcome associated with maternal obesity. Obesity prevention efforts are needed to increase the number of women who are of healthy weight before pregnancy.

Abnormalities, Multiple↗
PubMed1982

Birth defects research: 1980 and after.

Very little is known about environmentally-induced birth defects, i.e., those due to exogenous agents acting directly on the fetus or indirectly through the mother. Established teratogens include some viruses, drugs, radiations and one or two industrial chemicals. Much is known about birth defects due to single-gene mutations. Knowledge is scarce, however, concerning faulty regulation of gene expression or additive effects involving multiple-gene causation of disease and defect, and almost nothing is known about the mechanisms of multifactorial (gene plus environment) defects, which probably account for the majority of developmental anomalies known to man. Impressive progress has been made in understanding and control of inborn errors of metabolism. Carrier detection, prenatal diagnosis and effective ameliorative therapy have been worked out for many types of biochemical defects, and the entry of molecular biology into the field adumbrates the coming of more definitive preventive and therapeutic measures for many birth defects. Carrier detection and prenatal diagnosis make possible prevention of important birth defects by means of reproductive control. Ethical, social and psychological problems arising in the wake of this development are not here discussed but will surely be one of the dominating issues of medicine and public health for the coming years.

Abnormalities, Drug-Induced↗
PubMed2005

Gene-environment interactions in rare diseases that include common birth defects.

Rare syndromes often feature specific types of birth defects that frequently are major diagnostic clues to the presence of a given disorder. Despite this specificity, not everyone with the same syndrome is equally or comparably affected, and not everyone with a specific birth defect manifests the same syndrome or is affected with all the features of a particular syndrome. A symposium sponsored by the National Institutes of Health Office of Rare Diseases, and the National Toxicology Program Center for the Evaluation of Risks to Human Reproduction attempted to explore how much of this variability is due to genetic factors and how much is due to environmental factors. The specific types of birth defects examined included cardiovascular defects, holoprosencephaly, clefts of the lip and/or palate, neural tube defects, and diaphragmatic hernias.

Abnormalities, Drug-Induced↗