Birth Defects Monitoring Program Research Articles

Spatiotemporal Trends of Birth Defects in North Carolina, 2003-2015.

Birth defects are a leading cause of infant mortality in the United States, but little is known about causes of many types of birth defects. Spatiotemporal disease mapping to identify high-prevalence areas, is a potential strategy to narrow the search for potential environmental and other causes that aggregate over space and time. We described the spatial and temporal trends of the prevalence of birth defects in North Carolina during 2003-2015, using data on live births obtained from the North Carolina Birth Defects Monitoring Program. By employing a Bayesian space-time Poisson model, we estimated spatial and temporal trends of non-chromosomal and chromosomal birth defects. During 2003-2015, 52,524 (3.3%) of 1,598,807 live births had at least one recorded birth defect. The prevalence of non-chromosomal birth defects decreased from 3.8% in 2003 to 2.9% in 2015. Spatial modeling suggested a large geographic variation in non-chromosomal birth defects at census-tract level, with the highest prevalence in southeastern North Carolina. The strong spatial heterogeneity revealed in this work allowed to identify geographic areas with higher prevalence of non-chromosomal birth defects in North Carolina. This variation will help inform future research focused on epidemiologic studies of birth defects to identify etiologic factors.

Expanding the Massachusetts Birth Defects Monitoring Program to include additional pregnancy outcomes: Programmatic efforts and impacts on case ascertainment, 2012-2020.

Birth defects affect 1 in 33 infants in the United States and are a leading cause of infant mortality. Birth defects surveillance is crucial for informing public health action. The Massachusetts Birth Defects Monitoring Program (MBDMP) began collecting other pregnancy losses (OPLs) in 2011, including miscarriages (<20 weeks gestation) or elective terminations (any gestational age), in addition to live births and stillbirths (≥20 weeks gestation). We describe programmatic changes for adding OPLs and their impact on prevalence estimates. Using population-based, statewide, data from the MBDMP (2012-2020), we assessed prevalence per 10,000 live births and 95% confidence intervals (CIs) with and without OPLs overall and for specific birth defects by time period, maternal age, and race/ethnicity. Including OPLs required amending a state statute and promulgating regulations, new data sources, and additional data processing, cleaning, and verification. Overall prevalence with OPLs increased from 257.4 (95% CI: 253.5-261.4) to 333.9 (95% CI: 329.4-338.4) per 10,000; increases were observed in all time periods, age, and race/ethnicity groups. After including OPLs, the prevalence increased for neural tube defects [3.2 (2.7-3.6) to 8.3 (7.6-9.0)], and trisomies 13 [0.5 (0.3-0.7) to 4.1 (3.6-4.6)], 18 [1.5 (1.2-1.9) to 8.2 (7.5-8.9)], and 21 [12.3 (11.4-13.2) to 28.9 (27.6-30.2)]. Cardiovascular defects increased slightly, while prevalence of eye/ear, respiratory, and gastrointestinal defects remained similar. Adding OPLs required substantial programmatic efforts and resulted in more complete case ascertainment, particularly for certain birth defects. More complete case ascertainment will allow for improved research, screening, and resource allocation.

Changes in the number of babies born with Down syndrome in Japan.

The number of babies born with Down syndrome has changed in recent years because of widespread availability of prenatal screening and advanced maternal age at delivery. In Japan, which has no public institutions that record data on babies born with chromosomal abnormalities (including Down syndrome), the accurate number remains unknown. The Japan Association of Obstetricians and Gynecologists Birth Defects Monitoring Program (hereafter the JAOG Program) is the only national survey of congenital anomalies in Japan. Using data from this survey and vital statistics, we investigated the changes in the number of babies born with Down syndrome in Japan from 2006 to 2019. On performing linear regression analysis with the proportion of babies born with Down syndrome as the response variable, and the proportion of mothers giving birth at the age of 35 years or older as the explanatory variable, the regression coefficient was 0.0054 (p < 0.001). The proportion of mothers giving birth at the age of 35 years or older was useful for predicting the proportion of babies born with Down syndrome. This proportion has increased since 2006 but has remained almost unchanged since 2015. In 2019, it was 1/734. This study revealed that the proportion of mothers giving birth at the age of 35 years or older strongly affected the proportion of babies born with Down syndrome. We assume that the proportion of babies is slightly affected by the increased number of pregnant women currently undergoing prenatal screening after the introduction of noninvasive prenatal genetic testing in 2013.

Assessing the value of reviewing all fetal death records for birth defects surveillance, compared to only those with maternal anomaly codes.

The Arizona Birth Defects Monitoring Program (ABDMP) creates case-finding lists of potential birth defects. As part of this, ABDMP includes all fetal death records, in addition to records for mothers and infants with an associated birth defect code. This project aims to understand the value of including all fetal deaths in case-finding, and to assess the impact on the rate of birth defects if all fetal death cases are not reviewed. We assessed 2016-2017 fetal death records based on case-finding source and ICD-10 CM codes. We categorized cases by whether they had a hospital discharge ICD-10 CM code indicating a maternal diagnosis for a fetal anomaly (i.e., "O35" code), and compared them to cases reported only by a stillbirth code, meaning that a baby was born deceased, with no reference to birth defects. Positive and negative predictive values were calculated (PPV, NPV, respectively). For 2016-2017, fetal deaths make up 6% (n = 89) of all confirmed birth defects (n = 1,416), and fetal deaths with no O35 code make up 4% (n = 54) of all confirmed birth defects cases in Arizona. Had cases without an O35 code not been included, 4% (n = 54) of confirmed birth defect cases in Arizona for 2016-2017 would have been missed. The PPV was 68.6%. The work involved in reviewing the additional 1,000 records per year is warranted by the value noted. It is evident that by including all fetal deaths we capture a more accurate picture of the occurrence of birth defects in Arizona.

Maternal residential exposure to specific agricultural pesticide active ingredients and birth defects in a 2003-2005 North Carolina birth cohort.

Previously we observed elevated odds ratios (ORs) for total pesticide exposure and 10 birth defects: three congenital heart defects and structural defects affecting the gastrointestinal, genitourinary and musculoskeletal systems. This analysis examines association of those defects with exposure to seven commonly applied pesticide active ingredients. Cases were live-born singleton infants from the North Carolina Birth Defects Monitoring Program linked to birth records for 2003-2005; noncases served as controls (total n = 304,906). Pesticide active ingredient exposure was assigned using a previously constructed metric based on crops within 500 m of residence, dates of pregnancy, and likely chemical application dates for each pesticide-crop combination. ORs (95% CI) were estimated with logistic regression for categories of exposure compared to unexposed. Models were adjusted for maternal race/ethnicity, age at delivery, education, marital status, and smoking status. Associations varied by birth defect and pesticide combinations. For example, hypospadias was positively associated with exposures to 2,4-D (OR50th to <90th percentile : 1.39 [1.18, 1.64]), mepiquat (OR50th to <90th percentile : 1.10 [0.90, 1.34]), paraquat (OR50th to <90th : 1.14 [0.93, 1.39]), and pendimethalin (OR50th to <90th : 1.21 [1.01, 1.44]), but not S-metolachlor (OR50th to <90th : 1.00 [0.81, 1.22]). Whereas atrial septal defects were positively associated with higher levels of exposure to glyphosate, cyhalothrin, S-metolachlor, mepiquat, and pendimethalin (ORs ranged from 1.22 to 1.35 for 50th to <90th exposures, and 1.72 to 2.09 for >90th exposures); associations with paraquat were null or inconsistent (OR 50th to <90th: 1.05 (0.87, 1.27). Our results suggest differing patterns of association for birth defects with residential exposure to seven pesticide active ingredients in North Carolina.

Congenital heart disease complexity and childhood cancer risk.

Childhood cancer is increased in those with birth defects, including those with congenital heart disease (CHD). Lymphoma risk is increased in children with CHD. This study analyzes the effect of CHD and CHD severity on childhood cancer risk. We analyzed cancer risk in a population-based cohort of children with and without CHD born between 1988 and 2004 by linking data from the California Birth Defects Monitoring Program with data from the California Cancer Registry. We compared cancer risk in children with and without CHD, excluding children with chromosomal anomalies. Of >3 million children in the birth cohort, 65,585 had birth defects (2%), 25,981 with CHD. Cancer occurred in 4,781 (0.15%) children, 43 (0.17%) with CHD. Cancer risk in CHD was increased (hazard ratio [HR]) 2.63, 95% CI: 1.95, 3.55). Leukemia was the most common cancer in those without CHD (1,722/4,738, 36%), central nervous system tumors were second (1,073/4,738, 23%), and lymphoma third (410/4,738, 9%). Among children with CHD, lymphoma and leukemia occurred with the same frequency (12/43, 28% for each). HR for lymphoma was 8.37 (CI: 4.71, 14.86) with CHD versus without. HR for leukemia was 2.05 (CI: 1.16, 3.61) with CHD versus without. CHD complexity was higher in lymphoma (3, interquartile range [IQR]: 2-3) than those with leukemia (1, IQR, 1-2; p < .02). Cancer risk is increased in children with CHD. Lymphoma risk is increased in CHD and is correlated with more complex CHD. These results suggest a shared developmental origin for CHD and lymphoma may be present.

Accuracy of birth certificate head circumference measurements: Massachusetts, 2012-2013.

Zika virus has recently emerged as a novel cause of microcephaly. CDC has asked states to rapidly ascertain and report cases of Zika-linked birth defects, including microcephaly. Massachusetts added head circumference to its birth certificate (BC) in 2011. The accuracy of head circumference measurements from state vital records data has not been reported. We sought to assess the accuracy of Massachusetts BC head circumference measurements by comparing them to measurements for 2,217 infants born during 2012-2013 captured in the Massachusetts Birth Defects Monitoring Program (BDMP) data system. BDMP contains information abstracted directly from infant medical records and served as the true head circumference value (i.e., gold standard) for analysis. We calculated the proportion of head circumference measurements in agreement between the BC and BDMP data. We assigned growth chart head circumference percentile categories to each BC and BDMP measurement, and calculated the sensitivity and specificity of BC-based categories to predict BDMP-based categories. No difference was found in head circumference measurements between the two sources in 77.9% (n = 1,727) of study infants. The sensitivity of BC-based head circumference percentile categories ranged from 85.6% (<3rd percentile) to 92.7% (≥90th percentile) and the specificity ranged from 97.6% (≥90th percentile) to 99.3% (<3rd percentile). BC head circumference measurements agreed with those abstracted from the medical chart the majority of the time. Head circumference measurements on the BC were more specific than sensitive across all standardized growth chart percentile categories.

Malformations Surveillance: Comparison between Findings at Birth and Age 1 Year.

Malformations surveillance programs among newborn infants are used to determine the prevalence of congenital anomalies. A comparison in the same group of infants between the malformations detected at birth and those detected at 1 year of age will identify errors in the surveillance process and, also, the abnormalities more likely not to be detected at birth, but later in the first year of life. The malformations identified at birth by Brigham and Women's Hospital (BWH) in the years 2000 and 2005 have been compared with the abnormalities detected in the same infants up to age 1 year by the Massachusetts Birth Defects Monitoring Program. The Massachusetts Birth Defects Monitoring Program identified 557 malformed infants in 2000 and 415 in 2005. Of these, 34 (3.5%) of the malformed infants were missed at birth by BWH Surveillance Program. An additional 22 (2.3%) malformed infants had delayed detection, as they were identified later in the first year. The reasons were the fact that: (1) the Surveillance staff reviewed the physicians' recorded findings only on the first day of life; (2) failure of the examining pediatrician to record the presence of a malformation in her/his notes. The most common abnormalities with delayed detection were mild heart defects, such as atrial septal defects. These findings emphasize the importance in a newborn malformations surveillance program of continued follow up in the first days of life, especially in small, premature infants. Birth Defects Research 110:142-147, 2018. © 2017 Wiley Periodicals, Inc.

Selected birth defects among males following the United States terrorist attacks of 11 September 2001.

The terrorist attacks of 11 September 2001 (hereafter referred to as 9/11) preceded an increase in male fetal deaths and reduced male live births among exposed gestational cohorts across several geographic locations in the United States, including California. We analyze whether the extreme stressor of 9/11 may have selected against frail males in utero by testing if the prevalence of male births with selected defects in California fell among cohorts exposed to the stressor during gestation. We used data from the California Birth Defects Monitoring Program from July 1985 to January 2004 (223 conception cohorts). We included six birth defects that as a group of phenotypes disproportionately affect males. We applied time-series methods and defined as "exposed to 9/11" the cohorts conceived in February, March, April, May, June, July, and August 2001. Three of the seven monthly conception cohorts exposed to 9/11 in utero show lower than expected odds of live born males with the studied defects: February 2001 (odds ratio [OR] = 0.39; 95% confidence interval [CI], 0.21-0.71), May 2001 (OR = 0.36; 95% CI, 0.16-0.81), and August 2001 (OR = 0.51; 95% CI, 0.28-0.93). The population-wide stressor of 9/11 precedes a reduction in the risk of live born males with selected birth defects. Our analysis contributes to the understanding of adaptation to stress among pregnant women exposed to large and unexpected ambient stressors. Results further support the notion that the prevalence of live born defects may reflect temporal variation in cohort selection in utero against frail males. Birth Defects Research 109:1277-1283, 2017. © 2017 Wiley Periodicals, Inc.

Validation of birth outcomes from the Society for Assisted Reproductive Technology Clinic Outcome Reporting System (SART CORS): population-based analysis from the Massachusetts Outcome Study of Assisted Reproductive Technology (MOSART)

To assess the validity of outcome data reported to the Society for Assisted Reproductive Technology Clinic Outcome Reporting System (SART CORS) compared with data from vital records and the birth defects registry in Massachusetts. Longitudinal cohort. Not applicable. A total of 342,035 live births and fetal deaths from Massachusetts mothers giving birth in the state from July 1, 2004, to December 31, 2008; 9,092 births and fetal deaths were from mothers who had conceived with the use of assisted reproductive technology (ART) and whose cycle data had been reported to the SART CORS. Not applicable. Percentage agreement between maternal race and ethnicity, delivery outcome (live birth or fetal death), plurality (singleton, twin, or triplet+), delivery date, and singleton birth weight reported in the SART CORS versus vital records; sensitivity and specificity for birth defects among singletons as reported in the SART CORS versus the Massachusetts Birth Defects Monitoring Program (BDMP). There was >95% agreement between the SART CORS and vital records for fields of maternal race/ethnicity, live birth/fetal death, and plurality; birth outcome date was within 1day with 94.9% agreement and birth weight was within 100g with 89.6% agreement. In contrast, sensitivity for report of any birth defect was 38.6%, with a range of 18.4%-50.0%, for specific birth defect categories. Although most SART CORS outcome fields are accurately reported, birth defect variables showed poor sensitivity compared with the gold standard data from the BDMP. We suggest that reporting of birth defects be discontinued.

Heme oxygenase-1 promoter polymorphisms and risk of spina bifida.

Spina bifida is the most common form of neural tube defects (NTDs). Etiologies of NTDs are multifactorial, and oxidative stress is believed to play a key role in NTD development. Heme oxygenase (HO), the rate-limiting enzyme in heme degradation, has multiple protective properties including mediating antioxidant processes, making it an ideal candidate for study. The inducible HO isoform (HO-1) has two functional genetic polymorphisms: (GT)n dinucleotide repeats and A(-413)T SNP (rs2071746), both of which can affect its promoter activity. However, no study has investigated a possible association between HO-1 genetic polymorphisms and risk of NTDs. This case-control study included 152 spina bifida cases (all myelomeningoceles) and 148 non-malformed controls obtained from the California Birth Defects Monitoring Program reflecting births during 1990 to 1999. Genetic polymorphisms were determined by polymerase chain reaction and amplified fragment length polymorphisms/restriction fragment length polymorphisms using genomic DNA extracted from archived newborn blood spots. Genotype and haplotype frequencies of two HO-1 promoter polymorphisms between cases and controls were compared. For (GT)n dinucleotide repeat lengths and the A(-413)T SNP, no significant differences in allele frequencies or genotypes were found. Linkage disequilibrium was observed between the HO-1 polymorphisms (D': 0.833); however, haplotype analyses did not show increased risk of spina bifida overall or by race/ethnicity. Although, an association was not found between HO-1 polymorphisms and risk of spina bifida, we speculate that the combined effect of low HO-1 expression and exposures to known environmental oxidative stressors (low folate status or diabetes), may overwhelm antioxidant defenses and increase risk of NTDs and warrants further study.

Prevalence of birth defects among American-Indian births in California, 1983-2010.

Approximately 6.3 million live births and fetal deaths occurred during the ascertainment period in the California Birth Defects Monitoring Program registry. American-Indian and non-Hispanic white women delivered 40,268 and 2,044,118 births, respectively. While much information has been published about non-Hispanic white infants, little is known regarding the risks of birth defects among infants born to American-Indian women. This study used data from the California Birth Defects Monitoring Program to explore risks of selected birth defects in offspring of American-Indian relative to non-Hispanic white women in California. The study population included all live births and fetal deaths 20 weeks or greater from 1983 to 2010. Prevalence ratios and corresponding 95% confidence intervals (CI) were computed using Poisson regression for 51 groupings of birth defects. Prevalence ratios were estimated for 51 groupings of birth defects. Of the 51, nine had statistically precise results ranging from 0.78 to 1.85. The eight groups with elevated risks for American-Indian births were reduction deformities of brain, anomalies of anterior segments, specified anomalies of ear, ostium secundum type atrial septal defect, specified anomalies of heart, anomalies of the aorta, anomalies of great veins, and cleft lip with cleft palate. Our results suggest that American-Indian women having babies in California may be at higher risk for eight birth defect phenotypes compared with non-Hispanic whites. Further research is needed to determine whether these risks are observed among other populations of American-Indian women or when adjusted for potential covariates.

Microarray‐based comparative genomic hybridization analysis in neonates with congenital anomalies: detection of chromosomal imbalances

ObjectiveTo identify chromosomal imbalances by whole‐genome microarray‐based comparative genomic hybridization (array‐CGH) in DNA samples of neonates with congenital anomalies of unknown cause from a birth defects monitoring program at a public maternity hospital. MethodsA blind genomic analysis was performed retrospectively in 35 stored DNA samples of neonates born between July of 2011 and December of 2012. All potential DNA copy number variations detected (CNVs) were matched with those reported in public genomic databases, and their clinical significance was evaluated. ResultsOut of a total of 35 samples tested, 13 genomic imbalances were detected in 12/35 cases (34.3%). In 4/35 cases (11.4%), chromosomal imbalances could be defined as pathogenic; in 5/35 (14.3%) cases, DNA CNVs of uncertain clinical significance were identified; and in 4/35 cases (11.4%), normal variants were detected. Among the four cases with results considered causally related to the clinical findings, two of the four (50%) showed causative alterations already associated with well‐defined microdeletion syndromes. In two of the four samples (50%), the chromosomal imbalances found, although predicted as pathogenic, had not been previously associated with recognized clinical entities. ConclusionsArray‐CGH analysis allowed for a higher rate of detection of chromosomal anomalies, and this determination is especially valuable in neonates with congenital anomalies of unknown etiology, or in cases in which karyotype results cannot be obtained. Moreover, although the interpretation of the results must be refined, this method is a robust and precise tool that can be used in the first‐line investigation of congenital anomalies, and should be considered for prospective/retrospective analyses of DNA samples by birth defect monitoring programs.

Microarray-based comparative genomic hybridization analysis in neonates with congenital anomalies: detection of chromosomal imbalances

ObjectiveTo identify chromosomal imbalances by whole-genome microarray-based comparative genomic hybridization (array-CGH) in DNA samples of neonates with congenital anomalies of unknown cause from a birth defects monitoring program at a public maternity hospital. MethodsA blind genomic analysis was performed retrospectively in 35 stored DNA samples of neonates born between July of 2011 and December of 2012. All potential DNA copy number variations detected (CNVs) were matched with those reported in public genomic databases, and their clinical significance was evaluated. ResultsOut of a total of 35 samples tested, 13 genomic imbalances were detected in 12/35 cases (34.3%). In 4/35 cases (11.4%), chromosomal imbalances could be defined as pathogenic; in 5/35 (14.3%) cases, DNA CNVs of uncertain clinical significance were identified; and in 4/35 cases (11.4%), normal variants were detected. Among the four cases with results considered causally related to the clinical findings, two of the four (50%) showed causative alterations already associated with well-defined microdeletion syndromes. In two of the four samples (50%), the chromosomal imbalances found, although predicted as pathogenic, had not been previously associated with recognized clinical entities. ConclusionsArray-CGH analysis allowed for a higher rate of detection of chromosomal anomalies, and this determination is especially valuable in neonates with congenital anomalies of unknown etiology, or in cases in which karyotype results cannot be obtained. Moreover, although the interpretation of the results must be refined, this method is a robust and precise tool that can be used in the first-line investigation of congenital anomalies, and should be considered for prospective/retrospective analyses of DNA samples by birth defect monitoring programs.

Geographic analysis of individual and environmental risk factors for hypospadias births.

Hypospadias is a relatively common birth defect affecting the male urinary tract. We explored the etiology of hypospadias by examining its spatial distribution in North Carolina and the spatial clustering of residuals from individual and environmental risk factors. We used data collected by the North Carolina Birth Defects Monitoring Program from 2003 to 2005 to estimate local Moran's I statistics to identify geographic clustering of overall and severe hypospadias, using 995 overall cases and 16,013 controls. We conducted logistic regression and local Moran's I statistics on standardized residuals to consider the contribution of individual variables (maternal age, maternal race/ethnicity, maternal education, smoking, parity, and diabetes) and environmental variables (block group land cover) to this clustering. Local Moran's I statistics indicated significant clustering of overall and severe hypospadias in eastern central North Carolina. Spatial clustering of hypospadias persisted when controlling for individual factors, but diminished somewhat when controlling for environmental factors. In adjusted models, maternal residence in a block group with more than 5% crop cover was associated with overall hypospadias (odds ratio = 1.22; 95% confidence interval = 1.04-1.43); that is living in a block group with greater than 5% crop cover was associated with a 22% increase in the odds of having a baby with hypospadias. Land cover was not associated with severe hypospadias. This study illustrates the potential contribution of mapping in generating hypotheses about disease etiology. Results suggest that environmental factors including proximity to agriculture may play some role in the spatial distribution of hypospadias. Birth Defects Research (Part A) 100:887-894, 2014. © 2014 Wiley Periodicals, Inc.

Delayed diagnosis of critical congenital heart defects: trends and associated factors.

We aimed to examine trends in timing of diagnosis of critical congenital heart defects (CCHDs) and factors associated with delayed diagnosis (diagnosis after discharge home following delivery). We examined a population-based retrospective cohort of CCHD cases among live births identified through the Massachusetts Birth Defects Monitoring Program. Congenital heart defects were considered critical if the infant received corrective surgery, interventional catheterization, palliative care, or died as a result of the defect within 12 months of birth. Timing of initial diagnosis was classified as prenatal, postnatal before discharge home, or delayed. Demographic, perinatal, and mortality information was obtained from the Registry of Vital Records and Statistics. Prevalence ratios (PRs) were used to examine associations with delayed diagnosis. Among 460 467 live births to Massachusetts residents between 2004 and 2009, we identified 916 CCHD cases, of which 126 (13.8%) had delayed diagnosis. Rates of prenatal CCHD diagnosis increased from 44.9% in 2004 to 63.8% in 2009, whereas rates of delayed diagnosis decreased from 17.1% to 10.6% over the same time period. Among cases with delayed diagnosis, the most common defects were coarctation, pulmonary valve stenosis, and tetralogy of Fallot. Delayed diagnosis was associated with delivery outside a tertiary hospital (adjusted PR: 3.6 [95% confidence interval: 2.5-5.2]) and isolated CCHD (adjusted PR: 1.7 [95% confidence interval: 1.1-2.7]). Despite increasing prenatal diagnosis of CCHDs, delayed diagnosis still occurs in over 10% of cases. Understanding factors associated with delayed diagnosis could help to improve prenatal and postnatal screening efforts, including pulse oximetry testing.

Hypospadias and Residential Proximity to Pesticide Applications

Experimental evidence suggests pesticides may be associated with hypospadias. Examine the association of hypospadias with residential proximity to commercial agricultural pesticide applications. The study population included male infants born from 1991 to 2004 to mothers residing in 8 California counties. Cases (n = 690) were ascertained by the California Birth Defects Monitoring Program; controls were selected randomly from the birth population (n = 2195). We determined early pregnancy exposure to pesticide applications within a 500-m radius of mother's residential address, using detailed data on applications and land use. Associations with exposures to physicochemical groups of pesticides and specific chemicals were assessed using logistic regression adjusted for maternal race or ethnicity and age and infant birth year. Forty-one percent of cases and controls were classified as exposed to 57 chemical groups and 292 chemicals. Despite >500 statistical comparisons, there were few elevated odds ratios with confidence intervals that excluded 1 for chemical groups or specific chemicals. Those that did were for monochlorophenoxy acid or ester herbicides; the insecticides aldicarb, dimethoate, phorate, and petroleum oils; and adjuvant polyoxyethylene sorbitol among all cases; 2,6-dinitroaniline herbicides, the herbicide oxyfluorfen, and the fungicide copper sulfate among mild cases; and chloroacetanilide herbicides, polyalkyloxy compounds used as adjuvants, the insecticides aldicarb and acephate, and the adjuvant nonyl-phenoxy-poly(ethylene oxy)ethanol among moderate and severe cases. Odds ratios ranged from 1.9 to 2.9. Most pesticides were not associated with elevated hypospadias risk. For the few that were associated, results should be interpreted with caution until replicated in other study populations.

Early prenatal exposure to air pollution and its associations with birth defects in a state‐wide birth cohort from North Carolina

Few studies have examined the potential relationship between air pollution and birth defects. The objective of this study was to investigate whether maternal exposure to particulate matter (PM2.5 ) and ozone (O3 ) during pregnancy is associated with birth defects among women living throughout North Carolina. Information on maternal and infant characteristics was obtained from North Carolina birth certificates and health service data (2003-2005) and linked with information on birth defects from the North Carolina Birth Defects Monitoring Program. The 24-hr PM2.5 and O3 concentrations were estimated using a hierarchical Bayesian model of air pollution generated by combining modeled air pollution predictions from the U.S. Environmental Protection Agency's Community Multi-Scale Air Quality model with air monitor data from the Environmental Protection Agency's Air Quality System. Maternal residence was geocoded and assigned pollutant concentrations averaged over weeks 3 to 8 of gestation. Binomial regression was performed and adjusted for potential confounders. No association was observed between either PM2.5 or O3 concentrations and most birth defects. Positive effect estimates were observed between air pollution and microtia/anotia and lower limb deficiency defects, but the 95% confidence intervals were wide and included the null. Overall, this study suggested a possible relationship between air pollution concentration during early pregnancy and certain birth defects (e.g., microtia/anotia, lower limb deficiency defects), although this study did not have the power to detect such an association. The risk for most birth defects does not appear to be affected by ambient air pollution.

Maternal Perspectives: Qualitative Responses about Perceived Barriers to Care among Children with Orofacial Clefts in North Carolina

To examine maternal perceptions of barriers to care of children with orofacial clefts (OFC) in a population-based survey that solicited open-ended qualitative responses. In 2006, a combination mail/phone survey was sent to all mothers of children with OFC. The questionnaire included 76 items. A final open-ended question was included for additional information about cleft-related care. The analysis included responses to the open-ended question and sociodemographic characteristics of the respondents. Qualitative responses were transcribed and entered into a qualitative software package for analysis, and common themes were elucidated. The North Carolina Birth Defects Monitoring Program was used to identify all resident infants born with OFC from 2001 to 2004. Of 478 eligible mothers, 52.9% (n = 248) responded to the survey, and 39.5% (n = 98) responded to the final open-ended question. Percentage reporting problems accessing care, frequency of positive and negative comments, and indicators of financial, personal, and structural barriers to care. Of the 98 respondents, the majority (n = 95, 96.99%) were the biological mother. Almost 40% of mothers indicated that accessing primary craniofacial care was a problem. Of those citing perceived barriers to care, the major issues cited were financial, structural, and personal barriers. Collaborative efforts between craniofacial centers and teams, health care systems, and birth defects registries are warranted to reduce perceived barriers to care among families of children with OFC. Further exploration of the themes and factors associated with barriers to care and services is needed.

Designing Healthy Communities by Jackson, Richard J. and Sinclair, Stacy

Children, Youth and Environments Vol. 22 No. 2 (Winter 2012) ISSN: 1546-2250 Designing Healthy Communities Jackson, Richard J. and Sinclair, Stacy (2012). San Francisco: Jossey-Bass; 230 pages. ISBN 978111803366. This book is a fitting milestone in Richard Jackson’s long career as a leader in public health. A pediatrician, Jackson helped establish the California Birth Defects Monitoring Program while he served with the California Department of Public Health, and the Childhood Lead Poisoning Prevention Program in his position as Director of the Centers for Disease Control and Prevention’s National Center for Environmental Health. From his early focus on the microcosm of children’s health—the toxic chemicals and particulates associated with birth defects, cancers, neurological disorders and asthma—he turned his attention to the macrocosm of the built environment that forms the upstream source of these problems, sometimes literally as well as figuratively. More recently, his concern includes the epidemic of obesity in the United States population, including children. He currently chairs the Department of Environmental Health Sciences in the School of Public Health at the University of California, Los Angeles. Jackson helped the profession of public health recognize that the built environment impacts major health concerns of our day. With Howard Frumkin and Lawrence Frank, he coauthored Urban Sprawl and Public Health (2004), a book that explores connections between our automobile-dependent way of life and health problems like obesity, depression, and exposure to air and water pollution. With Howard Frumkin and Andrew Dannenberg, he edited Making Healthy Places(2011). In Designing Healthy Communities, he and Sinclair emphasize the importance of community as a means to health, arguing that places that promote health and happiness are public goods that people create together. The book is an accessible analysis of relationships between the built environment and 296 health, featuring seven urban initiatives to create livable, walkable cities and towns. It culminates in guidelines for action, explaining how engaged citizens can conduct environmental audits, organize, develop action plans, and move to the implementation of local land use policies and infrastructures that promote health. Throughout the book, Jackson and Sinclair give attention to the well-being of children and their families. Many of the issues they discuss are intergenerational: affordable homes that are free of mold, asbestos and lead-based paints; adequate open spaces for play and exercise; nearby nature; complete streets that accommodate cyclists and pedestrians as well as cars; human-scaled streets; access to shops and public services by walking, biking or public transit; access to fresh foods and farmers’ markets; protection from pollution. While these resources benefit all ages, they are critical for children’s development, and the authors identify these links. They also discuss more child-specific issues, such as neighborhood schools, bike-to-school programs, and after-school programs. They recognize that more livable communities are desirable locations, resulting in high real estate prices in some of the cities that they discuss—such as Boulder, Colorado and Charleston, South Carolina—so that they identify affordable housing programs as critical for equitable access to healthy places. They also feature initiatives to improve working-class and decaying cities through the examples of Elgin in Illinois, Oakland, California and Detroit, Michigan. Jackson and Sinclair note repeatedly that environmental choices impact children for better or for worse, with long-term consequences for them and for society. They treat children and youth primarily as a vulnerable population that adults need to protect and provide for: the traditional view of children in Jackson’s fields of public health and pediatrics. This is an essential beginning: young people do need adult protection from toxins, air pollution, fast traffic, and dangerous neighborhoods that keep them indoors under conditions similar to house arrest. It is time for pediatrics and public health, 297 however, to catch up with the United Nations Convention on the Rights of the Child, ratified by the UN in 1989, which asserts that children have three kinds of rights: rights to protection from harm, rights to have their basic needs provided, and rights to participation in decisions that impact their lives, to the extent of their capabilities. The United Nations Committee on the Rights of the Child has specified that...