Timothy J. Flood

The Association Between Race/Ethnicity and Major Birth Defects in the United States, 1999–2007

OBJECTIVES We investigated the relationship between race/ethnicity and 27 major birth defects. METHODS We pooled data from 12 population-based birth defects surveillance systems in the United States that included 13.5 million live births (1 of 3 of US births) from 1999 to 2007. Using Poisson regression, we calculated prevalence estimates for each birth defect and 13 racial/ethnic groupings, along with crude and adjusted prevalence ratios (aPRs). Non-Hispanic Whites served as the referent group. RESULTS American Indians/Alaska Natives had a significantly higher and 50% or greater prevalence for 7 conditions (aPR = 3.97; 95% confidence interval [CI] = 2.89, 5.44 for anotia or microtia); aPRs of 1.5 to 2.1 for cleft lip, trisomy 18, and encephalocele, and lower, upper, and any limb deficiency). Cubans and Asians, especially Chinese and Asian Indians, had either significantly lower or similar prevalences of these defects compared with non-Hispanic Whites, with the exception of anotia or microtia among Chinese (aPR = 2.08; 95% CI = 1.30, 3.33) and Filipinos (aPR = 1.90; 95% CI = 1.10, 3.30) and tetralogy of Fallot among Vietnamese (aPR = 1.60; 95% CI = 1.11, 2.32). CONCLUSIONS This is the largest population-based study to our knowledge to systematically examine the prevalence of a range of major birth defects across many racial/ethnic groups, including Asian and Hispanic subgroups. The relatively high prevalence of birth defects in American Indians/Alaska Natives warrants further attention.

Mercury toxicity due to use of a cosmetic cream

The Arizona Department of Health Services performed an investigation to determine the health effects associated with the use of a mercury-containing beauty cream. A urine test for mercury was offered to cream users who contacted the Arizona Department of Health Services. Those with urine mercury levels > 20 micrograms/L were offered clinical evaluation. Eighty-nine urine specimens were submitted for testing. Of these, 66 showed an elevated urine mercury level (> 20 micrograms/L), and 55 people were evaluated in clinic. There were no major abnormalities found through physical examination or laboratory testing. Urine mercury levels declined from an initial mean of 170 micrograms/L to 32 micrograms/L at the final test (mean, 139 days later). The high urine mercury levels indicate that the use of this cosmetic cream constitutes a significant exposure. Neuropsychiatric symptoms were frequently reported, but few objective signs were noted.

Survival of children with trisomy 13 and trisomy 18: A multi-state population-based study.

Trisomy 13 (T13) and trisomy 18 (T18) are among the most prevalent autosomal trisomies. Both are associated with a very high risk of mortality. Numerous instances, however, of long‐term survival of children with T13 or T18 have prompted some clinicians to pursue aggressive treatment instead of the traditional approach of palliative care. The purpose of this study is to assess current mortality data for these conditions. This multi‐state, population‐based study examined data obtained from birth defect surveillance programs in nine states on live‐born infants delivered during 1999–2007 with T13 or T18. Information on childrens vital status and selected maternal and infant risk factors were obtained using matched birth and death certificates and other data sources. The Kaplan–Meier method and Cox proportional hazards models were used to estimate age‐specific survival probabilities and predictors of survival up to age five. There were 693 children with T13 and 1,113 children with T18 identified from the participating states. Among children with T13, 5‐year survival was 9.7%; among children with T18, it was 12.3%. For both trisomies, gestational age was the strongest predictor of mortality. Females and children of non‐Hispanic black mothers had the lowest mortality. Omphalocele and congenital heart defects were associated with an increased risk of death for children with T18 but not T13. This study found survival among children with T13 and T18 to be somewhat higher than those previously reported in the literature, consistent with recent studies reporting improved survival following more aggressive medical intervention for these children.

Cancer Risk in Children and Adolescents with Birth Defects: A Population-Based Cohort Study

Objective Birth defects are an increasing health priority worldwide, and the subject of a major 2010 World Health Assembly Resolution. Excess cancer risk may be an added burden in this vulnerable group of children, but studies to date have provided inconsistent findings. This study assessed the risk for cancer in children and young adolescents with major birth defects. Methods and Findings This retrospective, statewide, population-based, cohort study was conducted in three US states (Utah, Arizona, Iowa). A cohort of 44,151 children and young adolescents (0 through 14 years of age) with selected major, non-chromosomal birth defects or chromosomal anomalies was compared to a reference cohort of 147,940 children without birth defects randomly sampled from each state’s births and frequency matched by year of birth. The primary outcome was rate of cancer prior to age 15 years, by type of cancer and type of birth defect. The incidence of cancer was increased 2.9-fold (95% CI, 2.3 to 3.7) in children with birth defects (123 cases of cancer) compared to the reference cohort; the incidence rates were 33.8 and 11.7 per 100,000 person-years, respectively. However, the excess risk varied markedly by type of birth defect. Increased risks were seen in children with microcephaly, cleft palate, and selected eye, cardiac, and renal defects. Cancer risk was not increased with many common birth defects, including hypospadias, cleft lip with or without cleft palate, or hydrocephalus. Conclusion Children with some structural, non-chromosomal birth defects, but not others, have a moderately increased risk for childhood cancer. Information on such selective risk can promote more effective clinical evaluation, counseling, and research.

Assessment of Respiratory Symptoms and Asthma Prevalence in a U.S.-Mexico Border Region

The authors studied children who were 10-12 yr of age and who resided in sister cities in a U.S.-Mexico border region to determine the prevalence of asthma and respiratory symptoms. The relationship of symptoms to ambient levels of particulate matter less than 10 μ in diameter (PM10), and to several indoor environmental conditions, was assessed. The study was conducted in the border cities of Ambos Nogales (Nogales, Arizona [United States], and Nogales, Sonora [Mexico]). At the beginning of the 11-wk study, during the autumn of 1996, 631 students and their parents completed baseline questionnaires. While in school, the children completed daily symptom diaries and daily peak expiratory flow maneuvers. PM10 values and daily temperatures were also measured. The authors found that the prevalence of self-reported asthma among 5th-grade students was comparable on both sides of the border (i.e., 7.6% on the Arizona side and 6.9% on the Sonora side). Wheezing was a frequent complaint (29.5-35.6%), as was cough (16.8-29.6%). Smoking in the home was common on both sides of the border, and it was associated with a greater occurrence of self-reported asthma and respiratory complaints. Increased respiratory symptoms were also associated with increased ambient PM10 levels. The prevalence of respiratory symptoms such as wheezing and frequent cough among all children in this study, combined with the limitations inherent in self-reporting, suggest that asthma may actually be more prevalent than has been previously reported.

Postfolate spina bifida lesion level change

Spina bifida accounts for a large proportion of birth defects in the United States. Studies have evaluated the decrease in prevalence at birth after folate fortification of food grains, but little is known about neurologic functional changes related to fortification. This study assesses the functional level of lesions in the prefortification and postfortification eras.

Using state and provincial surveillance programs to reduce risk of recurrence of neural tube defects in the United States and Canada: A missed opportunity?

BACKGROUND Once a woman has had a fetus or infant affected with a neural tube defect (NTD), the risk of recurrence is approximately 3%. This risk can be significantly reduced by folic acid supplement consumption during the periconceptional period; however, this requires women at risk to be adequately informed about the appropriate dosage and timing of supplement intake before planning another pregnancy. As birth defects surveillance programs are tasked with identifying and documenting NTD-affected pregnancies and births, they are in a unique position to support recurrence prevention activities. METHODS In 2015, we surveyed state and provincial birth defects surveillance programs to assess their NTD recurrence prevention activities. The online survey was sent to programs in 52 United States (U.S.) jurisdictions and all 13 provinces and territories in Canada. Findings were compared with a similar survey conducted in 2005 among U.S. programs. RESULTS In 2015, of the 44 U.S. and Canadian surveillance programs that responded, only 9 programs (7 U.S. and 2 Canadian) reported currently having activities specifically directed toward preventing NTD recurrence. Compared with a 2005 survey of U.S. programs, the number of U.S. programs working on NTD recurrence prevention decreased by almost 50% (from 13 to 7 programs). CONCLUSION The number of birth defects surveillance programs with NTD recurrence prevention activities has decreased over the past decade due to a range of barriers, most notably a lack of resources. However, while some recurrence prevention activities require part-time staff, other activities could be accomplished using minimal resources. Birth Defects Research (Part A) 106:875-880, 2016.© 2016 Wiley Periodicals, Inc.