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PubMed1996

Maternal alcohol use and risk of orofacial cleft birth defects.

Maternal alcohol use during pregnancy is a known cause of birth defects associated with the fetal alcohol syndrome, but its role in more common, isolated, craniofacial birth defects is not well understood. A population-based, case-control study of orofacial clefts was conducted in Iowa using births during 1987-1991. Cases were identified by the Iowa Birth Defects Registry and classified as having a cleft lip with or without cleft palate (CLP) or cleft palate only (CP) and whether the cleft was isolated or occurred with other birth defects. Controls were selected from normal Iowa births. Maternal alcohol use during pregnancy was classified according to self-reported drinks consumed per month. Results are based on 302 controls and the following numbers in each case group: 118 isolated CLP, 56 isolated CP, 51 CLP with multiple defects, and 62 CP with multiple defects. Compared to women who did not drink alcohol during pregnancy, the relative odds of isolated CLP rose with increasing level of maternal drinking as follows: 1-3 drinks per months, 1.5; 4-10 drinks per month, 3.1; more than 10 drinks per month, 4.7 (chi-square test for trend, P = 0.003). Adjustment for maternal smoking, vitamin use, education, and household income did not substantially alter these results. No significant association was found between alcohol use and isolated cleft palate or clefts in children with multiple birth defects. Alcohol use during pregnancy may be a cause of isolated cleft lip with or without cleft palate.

Adult↗
PubMed2005

[Prevalence of major external birth defects in high and low risk areas in China, 2003].

OBJECTIVE: To study the prevalence rates of birth defects in high and low risk areas in China. METHODS: A population-based surveillance system on birth defects was used to obtain the prevalence rates of 24 kinds of major external birth defects from > or = 20 weeks of gestation to 7 days of life in selected areas in Shanxi and Jiangsu provinces. RESULTS: The birth prevalence of birth defects (232.4 per 10,000 births) and neural tube defects (NTDs) (138.7 per 10,000 births) in four counties of Shanxi province were significantly higher than that in Taiyuan city (75.3 and 28.2 per 10,000 births, respectively). There was no significant difference for all selected birth defects between Wuxi city and Xishan counties in low risk areas. There was a 6.1-fold of higher prevalence for NTDs in Taiyuan city compared with that in Wuxi areas (4.6 per 10,000 births). In four counties of Shanxi province, the prevalence rates of anencephaly, spina bifida, hydrocephaly, cleft palate alone and polydactyly were significantly higher than in Wuxi areas. The NTDs prevalence rate in four counties of Shanxi was 30.2 times higher than in Wuxi areas. When compared with previous surveillance data, the NTDs prevalence rate did not present obvious declining trend in high risk areas. The birth prevalence rate had a 31.8% decrease when births were calculated after 28 gestational weeks and compared with those from 20 gestational weeks. CONCLUSION: NTDs remained to be the most common birth defect seen in Shanxi province. The birth prevalence rate of NTDs in some areas of Shanxi province was among the highest that ever reported in the world in comparison with data from other countries and regions. The current prevalence rate in high risk areas in Shanxi province did not clearly show a declining trend. Programs on surveillance and prenatal diagnosis were proved to have made big impact on the rates of major external birth defects.

China↗
PubMed2006

[Birth defects occurrence and their role in perinatal mortality in the Czech Republic in 2004].

OBJECTIVE: An analysis of birth defects occurrence in the Czech Republic in 2004 and a comparison to data from 1996-2003. TYPE OF STUDY: A retrospective analysis of data from a National Register of Congenital Anomalies of the Czech Republic. METHODOLOGY: Data on birth defects in the Czech Republic from the Institute of Health Information and Statistics--National Register of Congenital Anomalies from the 1996-2004 period were used. An analysis of incidence of selected type of birth defects was performed along with their contribution to perinatal mortality according to particular types of defects. RESULTS: There were 29 186 children born with a birth defect, out of it were 17,063 boys and 12,116 girls, an undetermined sex was reported in 7 cases. A mean incidence of birth defects 2004 in was 367.9/10,000 live births. Corresponding data from years 2003, 2002 and 2001 were 405.2, 4043 and 407.9/10,000 live births. CONCLUSIONS: Current data on birth defects in 2004 in the Czech Republic are presented with a comparison to a 8-year period. An analysis of temporal and demographic changes in birth defects incidence is given along with data on birth defects contribution to perinatal mortality in selected types of defects.

Congenital Abnormalities↗
PubMed2006

National rates of birth defects among hospitalized newborns.

BACKGROUND: The Healthcare Cost and Utilization Project (HCUP) family of hospital discharge databases offer an unprecedented opportunity to generate national estimates of newborn infants with birth defects. This report estimates national hospital admissions for newborn infants diagnosed with birth defects computed from HCUP and compares them to pooled prevalence figures computed from state birth defect surveillance systems. METHODS: HCUP-derived rates of 36 birth defects from 1997 through 2001 were compared to rates derived from pooled data reported by 26 state-based surveillance systems stratified by inclusion of elective terminations in case definitions. Rate ratios (RRs) were calculated for each birth defect by dividing the rate derived from HCUP by the rate derived from the relevant surveillance systems. RESULTS: HCUP newborn hospitalization rates for birth defects closely approximate pooled birth defect rates for surveillance systems that do not include elective terminations. HCUP rates were not significantly different for 35 of 36 defects. Overall, 20 HCUP rates were within 10% of state rates, 11 more were within 20% of state rates, and only 1 differed by more than 50%. HCUP rates compared most closely to state rates for cardiovascular (VSD RR = 0.98, ASD = 0.96, pulmonary valve atresia and stenosis = 0.92), orofacial (cleft palate RR = 1.10, cleft lip = 1.06), and genitourinary defects (obstructive genitourinary RR = 1.01, bladder exstrophy = 0.97). HCUP rates compared less favorably to rates derived from surveillance systems that included elective terminations. CONCLUSIONS: HCUP data approximate state-based surveillance system data for defects that are easily recognized in the newborn period and infrequently a cause for elective termination. HCUP data can be used to examine the impact of public health efforts on the number of infants born with birth defects as well as the cost and consequences of variations in the hospital management of birth defects.

Child, Hospitalized↗
PubMed1993

Recurrent pregnancy loss as an indicator for increased risk of birth defects: a population-based case-control study.

Stillbirths and spontaneous abortuses have higher rates of birth defects than liveborn infants. The relationship between a woman's previous pregnancy loss and the risk of birth defects in the offspring has not been adequately examined, however. Using data from a population-based case-control study, we assessed whether one or more previous pregnancy loss was associated with increased birth defect risks. Case subjects were 4918 infants with serious births defects diagnosed in the first year of life and ascertained by the Metropolitan Atlanta Congenital Defects Program from 1968 to 1980. Control subjects were 3028 normal liveborn infants frequency-matched to case infants by race, hospital and period of birth. Among case and control infants whose mothers had already had at least one previous pregnancy, reported pregnancy losses (stillbirths and miscarriages) were associated with elevated risks of birth defects (odds ratios for one pregnancy loss of 1.24, two pregnancy losses of 1.49, and three or more pregnancy losses of 1.62, P < 0.0001 for trend). This association held after considering several potential confounders using logistic regression analysis. When specific defects were examined, many exhibited this association, notably hydrocephalus, and some cardiovascular, genital and limb defects. We estimate that the risk of serious birth defects increases from 2.5% for infants of women with no prior pregnancy loss to 4.2% for infants of women with three or more pregnancy losses. This finding has both clinical implications for pregnancy counselling and pathogenetic implications related to birth defect aetiology.

Abortion, Habitual↗
PubMed2004

Feasibility of identifying families for genetic studies of birth defects using the National Health Interview Survey.

BACKGROUND: The purpose of this study was to determine whether the National Health Interview Survey is a useful source to identify informative families for genetic studies of birth defects. METHODS: The 1994/1995 National Health Interview Survey (NHIS) was used to identify households where individuals with two or more birth defects reside. Four groups of households were identified: 1) single non-familial (one individual with one birth defect); 2) single familial (more than one individual with one birth defect); 3) multiple non-familial (one individual with more than one birth defect), and 4) multiple familial (more than one individual with more than one birth defect). The March 2000 U.S. Census on households was used to estimate the total number of households in which there are individuals with birth defects. RESULTS: Of a total of 28,094 households and surveyed about birth defects and impairments, 1,083 single non-familial, 55 multiple non-familial, 54 single familial, and 8 multiple familial households were identified. Based on the 2000 U.S. census, it is estimated that there are 4,472,385 households where at least one person has one birth defect in the United States and in 234,846 of them there are at least two affected individuals. Western states had the highest prevalence rates. CONCLUSIONS: Population-based methods, such as the NHIS, are modestly useful to identify the number and the regions where candidate families for genetic studies of birth defects reside. Clinic based studies and birth defects surveillance systems that collect family history offer better probability of ascertainment.

Age Distribution↗
PubMed2002

Elevated birth defects in racial or ethnic minority children of women living near hazardous waste sites.

This case-control study evaluated the relationship between birth defects in racial or ethnic minority children born during 1983-1988 and the potential exposure of their mothers to contaminants at hazardous waste sites in California. Four categories of race or ethnicity were used: black/African American, Hispanic/Latino, American Indian/Alaska Native, and Asian/Pacific Islander. Case subjects were 13,938 minority infants with major structural birth defects (identified by the California Birth Defects Monitoring Program) whose mothers resided in selected counties at the time of delivery. The control group was composed of 14,463 minority infants without birth defects who were randomly selected from the same birth cohort as the case subjects. The potential for exposure was determined by whether the mother resided at the time of delivery in the same census tract as a hazardous waste site that was on the U.S. Environmental Protection Agency's National Priorities List (NPL). Racial/ethnic minority infants whose mothers had been potentially exposed to hazardous waste were at slightly increased risk for birth defects (odds ratio [OR] = 1.12, 95% confidence interval [CI] = 0.98-1.27) than were racial/ethnic minority infants whose mothers had not been potentially exposed. The greatest association was between potential exposure and neural tube defects (OR = 1.54, 95% CI = 0.93-2.55), particularly anencephaly (OR = 1.85, 95% CI = 0.91-3.75). The strongest association between birth defects and potential exposure was among American Indians/Alaska Natives (OR = 1.19, 95% CI = 0.62-2.27). Despite the limitations of this study, the consistency of these findings with previous studies suggests an association between environmental risk factors and birth defects. This is particularly relevant to minority populations. We recommend further investigation of birth defects among minority communities, particularly among American Indians/Alaska Natives. Special attention should also be paid to those defects and contaminants that consistently are associated with exposure to hazardous waste.

Adolescent↗
PubMed1991

Patterns and trends of multiple congenital anomalies in birth defects surveillance systems.

Infants with multiple congenital anomalies (MCA) can provide important clues in the detection of teratogenic agents. Definition, classification, and ascertainment of MCA vary, however. We present comparative epidemiologic data on MCA from two U.S. surveillance systems: the Metropolitan Atlanta Congenital Defects Program, which ascertains major birth defects during the first year of life, and the Birth Defects Monitoring Program, a nationwide system that relies on newborn hospital-discharge diagnoses. This system has two components: the Commission on Public Hospitals Activities (CPHA) and the McDonnell Douglas Health Information System (MDHIS). Our analyses were based on over 600,000 births occurring in Atlanta, and over 5 million births occurring nationwide. Infants were classified as having MCA if they had two or more major defects from different categories (central nervous system, eye, orofacial, gastrointestinal, cardiovascular, genitourinary, and musculoskeletal). Additional analyses were also done on infants with three or more defects. Compared with the nationwide system, Atlanta showed 1) a much higher rate of MCA (16.2 per 10,000 births vs. 4.9 and 3.8 per 10,000 births in CPHA and MDHIS, respectively) and 2) a higher rate of MCA with chromosomal syndromes (2.0 per 10,000 births vs. 0.6 and 0.3 per 10,000 births in CPHA and MDHIS, respectively). Moreover, in Atlanta, the proportion of MCA with recorded chromosomal syndromes increased substantially during 20 years. These data point to differences in the ascertainment of MCAs in birth defects surveillance systems. More effort is needed to improve the ascertainment and comparability of MCA in surveillance systems, an important step toward better detection of human teratogens.

Abnormalities, Drug-Induced↗
PubMed1997

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.

Case-Control Studies↗
PubMed2004

A population-based study on the association between parental occupations and some common birth defects in singapore (1994-1998).

We sought to study the association between some common birth defects and parental occupations. The live births and congenital malformation born between January 1994 and December 1998 were obtained from the Singapore National Registry of Births and Deaths (the National Birth Defect Registry). The prevalence of overall birth defects among Singapore live births during the study period is 13.9 per 1,000 live births. The most frequent single coding defects were "bulbus cordis anomalies and anomalies of cardiac septal closure (BCA)," "congenital anomalies of urinary system (CUS)," "cleft palate and cleft lip (CPL)," and "certain congenital musculoskeletal deformities (CMD)." Using the "Legislators, Senior Officers & Managers" as reference and adjusting for possible confounders, there were significant associations for: (1) paternal "clerical workers" (adjusted RR 2.25) with the BCA; (2) maternal "professionals" with CUS (adjusted risk ratio [RR] 3.58); (3) paternal "production craftsmen and related workers" with both the BCA (adjusted RR 2.04), and the CMD (adjusted RR 2.83); (4) paternal "plant and machine operators and assemblers" with the BCA (adjusted RR 2.49), and the CUS (adjusted RR 5.19), and the CMD (adjusted RR 3.01). Paternal rather than maternal exposure might be more important in the causation of some common birth defects in Singapore.

Abnormalities, Multiple↗
PubMed2004

Genetic approaches to identify disease genes for birth defects with cleft lip/palate as a model.

BACKGROUND: Understanding the etiology of birth defects is an important step toward developing improved treatment and preventive strategies. Most birth defects have an underlying genetic basis, ranging from single genes playing dominant or recessive roles in Mendelian disorders to a mixture of contributions from multiple genes and environmental triggers in complex traits. The purpose of this article is to provide an overview of genetic approaches to identifying disease genes for genetically complex birth defects. METHODS: A review of the literature describing successes and limitations for identifying disease genes for complex traits was conducted. RESULTS: Cleft lip and cleft palate are common congenital anomalies with significant medical, psychological, social, and economic ramifications. The Online Mendelian Inheritance in Man catalog (OMIM; http://www3.ncbi.nlm.nih.gov/Omim) lists more than 400 single-gene causes of clefts of the lip and/or palate. Genetic causes of clefting also include chromosomal rearrangements, genetic susceptibility to teratogenic exposures, and complex genetic contributions of multiple genes. CONCLUSIONS: Genetic causes of birth defects can be identified using an increasingly powerful combination of careful sample collection, molecular analytic methods, and statistical evaluations. We will describe a range of approaches to search for genetic factors of birth defects and use our own work with cleft lip and palate as a model.

Chromosome Aberrations↗
PubMed2003

Residence, delivery and referral patterns of infants and fetuses with birth defects delivered in Hawaii, 1986-1999.

Information on residence, delivery and referral patterns is useful to a birth defects program for allocation of resources, predicting where deliveries may have occurred, and estimating the impact of altering geographic inclusion criteria. The purpose of this study was to describe the residence, delivery and referral patterns for infants and fetuses with birth defects delivered in Hawaii. Data were obtained from the Hawaii Birth Defects Program and included birth defects cases delivered between 1986 and 1999 with known delivery residence and place of delivery. Of 12,873 total cases, 171 (1%) were delivered to out-of-state residents. Of the remaining 12,702 cases delivered to residents in the four Counties of Hawaii, 9905 (78%) were to City and County of Honolulu residents and 2797 (22%) were to residents of Hawaii, Kauai and Maui Counties. Of the cases delivered to City and County of Honolulu residents, 9903 were delivered in that County. Of the cases delivered to residents of the other three Counties, 591 (21%) were referred to the City and County of Honolulu for delivery, and 1602 (57%) were referred to the City and County of Honolulu for any reason. Honolulu delivery referral rates and total referral rates for cases delivered to Hawaii, Kauai and Maui County residents were higher with prenatal diagnosis of a birth defect (59 and 87%, respectively) and elective termination (70 and 85%, respectively), and varied among 53 different types of birth defect (0-83% and 23-100%, respectively).

Congenital Abnormalities↗
PubMed2000

Birth defects prevalence among infants of Persian Gulf War veterans born in Hawaii, 1989-1993.

BACKGROUND: Gulf War veterans (GWVs) have expressed concern about possible teratogenic exposures. However, epidemiologic studies on birth defects prevalence among their progeny have been limited to military hospitals, anomalies diagnosed among newborns, or self-reported data. To measure the prevalence of selected birth defects among infants of GWVs and nondeployed veterans (NDVs) in Hawaii, using birth defects surveillance records. METHODS: Personal identifiers of 684,645 GWVs and 1,587,102 NDVs and their families were matched against birth certificate records of 99,545 live births reported to the State of Hawaii Department of Health between 1989 and 1993 to identify births to military personnel. These births were matched with records from the Hawaii Birth Defects Program. RESULTS: A total of 17,182 military infants (3,717 GWV infants and 13,465 NDV infants) were identified. Of these, 367 infants (2.14/100 live births) were identified with one or more of 48 major birth defects diagnoses. The prevalence of the 48 birth defects were similar for GWV and NDV infants during the prewar and postwar periods, and among GWV infants who were conceived before and after the Gulf war. CONCLUSIONS: The results must be interpreted with caution because of the small number of affected infants in each birth defects category. This study demonstrated the feasibility of measuring birth defects prevalence among military infants through multiple data linkage. Further, it included live births to parents who had separated from the military, births in civilian hospitals, and birth defects diagnosed through the first year of life.

Adult↗
PubMed1995

Early childhood surveillance of developmental disorders by a birth defects surveillance system: methods, prevalence comparisons, and mortality patterns.

The prevalence of developmental disabilities in early childhood is not well documented. An established birth defects registry extended surveillance to identify cases of developmental disorders in early childhood by adding all known sources of diagnosis and service to case-finding methods. Residents of a northwest Arkansas region born during 1985 to 1987 and diagnosed with either a birth defect or a developmental disorder by the 4th birthday comprised the studied cohort. Case records were linked with death certificates to examine the influence of mortality on prevalence ratios. Prevalence ratios estimated were 64.5/1000 resident live births (60.9/1000 among survivors to age 4 years) for either birth defect or developmental disorder, 33.4/1000 for developmental disorder, 37.0/1000 for birth defect, and 9.5/1000 for both developmental disorder and birth defect. Prevalence ratios of specific developmental disorders and the role of mortality in decreasing population prevalence are reported. The most common diagnostic categories in this age group were developmental delay, seizures, and failure to thrive. Overlap of birth defect categories with a diagnosed developmental disability was examined; 68.8% of children diagnosed with neural tube defects and 45.5% of those with chromosomal abnormalities who survived to age 4 years had clinically diagnosed developmental disorders. An anticipated high degree of overlap (77%) for other central nervous system defects was found. For other birth defect categories, developmental disorder diagnosis was present in 20 to 30% of the study group. Death before age 4 years occurred most often when the diagnosis was newborn seizures (17.1%) or "conditions of the brain" (13.6%); the mortality rate was 6 to 8% for epilepsy or seizure disorders, mental retardation, and vision loss. The large number of developmental diagnoses among this cohort indicates that surveillance of these disorders in early childhood, even with tentative diagnoses, is feasible. Data obtained indicate that many birth defects are associated with developmental disorders; potentially, this association can contribute to earlier identification of developmental disorders in childhood.

Arkansas↗
PubMed2002

A polymorphism, R653Q, in the trifunctional enzyme methylenetetrahydrofolate dehydrogenase/methenyltetrahydrofolate cyclohydrolase/formyltetrahydrofolate synthetase is a maternal genetic risk factor for neural tube defects: report of the Birth Defects Research Group.

Women who take folic acid periconceptionally reduce their risk of having a child with a neural tube defect (NTD) by >50%. A variant form of methylenetetrahydrofolate reductase (MTHFR) (677C-->T) is a known risk factor for NTDs, but the prevalence of the risk genotype explains only a small portion of the protective effect of folic acid. This has prompted the search for additional NTD-associated variants in folate-metabolism enzymes. We have analyzed five potential single-nucleotide polymorphisms (SNPs) in the cytoplasmic, nicotinamide adenine dinucleotide phosphate-dependent, trifunctional enzyme methylenetetrahydrofolate dehydrogenase/methenyltetrahydrofolate cyclohydrolase/formyltetrahydrofolate synthetase (MTHFD1) for an association with NTDs in the Irish population. One SNP, R653Q, in this gene appears to be associated with NTD risk. We observed an excess of the MTHFD1 "Q" allele in the mothers of children with NTD, compared with control individuals. This excess was driven by the overrepresentation of QQ homozygotes in the mothers of children with NTD compared with control individuals (odds ratio 1.52 [95% confidence interval 1.16-1.99], P=.003). We conclude that genetic variation in the MTHFD1 gene is associated with an increase in the genetically determined risk that a woman will bear a child with NTD and that the gene may be associated with decreased embryo survival.

Aminohydrolases↗
PubMed1997

Temporal trends in the incidence of birth defects -- United States.

Through CDC's Birth Defects Monitoring Program (BDMP), a total of 161 categories of birth defects are analyzed quarterly to determine increases or other unusual trends. Sixteen of these malformations have been selected for review in this report because they occur in sufficient numbers to provide relatively stable rates, the coding categories for them are relatively homogeneous, and they represent defects of different organ systems.

Congenital Abnormalities↗
PubMed2004

[Impacts of birth defects on perinatal deaths in Chinese population].

OBJECTIVE: To examine the time trends of perinatal mortality and the frequency of birth defects occurring in perinatal deaths, and to provide a national perspective on the impacts of congenital anomalies on perinatal mortality from 1990 through 2001. METHODS: Data were from Chinese Birth Defects Monitoring network-a hospital-based congenital anomalies registry system. During 1990 - 2001, all live or still births with 28 weeks of gestation or more, born in monitoring units, were studied within 7 days after delivery. The proportion of perinatal deaths due to birth defects, which was defined as the number of perinatal deaths associated with congenital anomalies per 100 perinatal deaths, was calculated by birth area (urban versus rural), geographic-economic status (coast areas, inner land areas and remote areas), to evaluate the impacts of birth defects on perinatal mortality. RESULTS: Perinatal mortality declined from 22.85 per 1000 in 1990 to 13.26 per 1000 in 2001, which showed a significant downward trend. Similar trend was also observed in the rate of stillbirth and the ratio of early neonatal death. However, the proportion of perinatal deaths due to birth defects had an increasing trend although the perinatal birth defects-specific death rate was declining, especially during 1996 - 2001. This result was also seen in urban and rural area, in coast regions, in inner land regions and in remote regions of China. Higher rate of birth defects occurring in perinatal deaths was observed in urban area than in rural area. Significant difference of this rate was also found among different geographic-economic regions, with the highest one in inland regions. CONCLUSION: Birth defects were accounted for an increasing proportion of perinatal deaths in China, and had become one of the major causes of perinatal deaths.

China↗