Birth Defects in Texas and Beyond: Epidemiologic Findings

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1 Birth Defects in Texas and Beyond: Epidemiologic Findings Disclosure Mark Canfield, PhD, has no relationships with commercial companies to disclose. Mark Canfield, Ph.D. Manager, Birth Defects Epidemiology and Surveillance Branch, Texas DSHS Learning Objectives At the end of this presentation the participant will be able to: 1. Name 3 of the most common birth defects in Texas 2. Identify the most common critical congenital heart defect targeted for pulse oximetry screening 3. Identify a major birth defect that is increasing in prevalence over time Public Health Impact: Topics to be Covered Program History and Overview Prevalence of Selected Birth Defects in Texas Prevalence Differences Mortality/Survival Other Findings Program Resources History Early Program Milestones Baby tragedy has no bounds/woodlands, like the Valley, sees infants missing brains. 1993: Legislation enacted 1994: Registry established 1996: Center established 1999: Registry became statewide 1991 Headlines 1

2 Birth Defects Epidemiology & Surveillance Branch, Texas DSHS: 2 Components Texas Birth Defects Registry (TBDR) One of largest birth defects surveillance systems globally Funded by State of Texas and Title V Office, DSHS Monitor and describe the occurrence of birth defects in TX Conduct cluster investigations Collaborative research and prevention Family outreach Texas Center for Birth Defects Research and Prevention One of 10 in U.S. funded by CDC Collaborate in the National Birth Defects Prevention Study: largest of its kind to date Establish collaborative epidemiologic genetic research TX Features of the Texas Birth Defects Registry Computerized database of infants and pregnancies affected by birth defects Active surveillance trained staff visit facilities to identify cases and collect info Structural/chromosomal malformations Emphasis on diagnostic accuracy Emphasis on hospitals/related clinics Includes all pregnancy outcomes Prevalence of Selected Birth Defects Prevalence of Critical Congenital Heart Defects Targeted for Pulse Oximetry Screening, Texas, Variation in Birth Defect Prevalence, by: Coarctation of aorta Tetralogy of Fallot Transposition of the great arteries Hypoplastic left heart syndrome Total anomalous pulmonary venous return Pulmonary valve atresia Double outlet right ventricle Single ventricle Tricuspid valve atresia Time Maternal Age Infant Sex Maternal Race/Ethnicity Geographic area Common truncus Ebstein anomaly Interrupted aortic arch Prevalence (cases per 10,000 live births) 2

3 Birth Prevalence of Children with Any Monitored Birth Defect by Year, Texas, Gastroschisis Spina Bifida Any Monitored Defect Texas, Prevalence of Down Syndrome By Mother s Age Mother s Age Sex of Infant/Fetus 3

4 Prevalence of Gastroschisis By Mother s Age Selected Defects by Race/Ethnicity, Texas, Spina Bifida Anotia/Microtia Craniosynostosis Cleft Palate Summary Table of Adjusted Prevalence Ratios for 27 Birth Defects in 12 U.S. States Main Racial/Ethnic Groups Selected Asian Subgroups Hispanic Subgroups Asian Birth Defect NHB Hisp NHA NHAI Chin Filp Kor Ind Vietn Mex PR Cub Anencephalus Spina Bifida without anencephalus Encephalocele Anotia/microtia Common truncus Transposition of great arteries Tetralogy of Fallot Endocardial cushion defect Endocardial cushion defect, w/o DS Aortic valve stenosis Hypoplastic left heart Coarctation of aorta Cleft palate w/out cleft lip Cleft lip Esophageal atresia Congenital pyloric stenosis Rectal and large intestinal atresia Hypospadias Reduction deformity upper Reduction deformity lower Reduction deformity total Diaphragmatic hernia Gastroschisis Omphalocele Down syndrome Trisomy Trisomy Bold red and up arrow ( ): prevalence is significantly higher than that for non Hispanic whites (p<0.05) Bold blue and down arrow ( ): prevalence is significantly lower than that for non Hispanic whites (p<0.05) Spina Bifida, in Cases per 10,000 Live Births, Texas, Texas statewide prevalence = 3.8 cases per 10,000 live births 3.9 Arrows indicate statistically significant higher ( ) or lower ( ) prevalence, compared to Texas statewide prevalence Rank 1 10 Most Common Causes of Death By Age Group, Texas 2008 < Birth Defects Unintentional Unintentional Unintentional Unintentional Unintentional Unintentional 530 Injuries 175 Injuries 79 Injuries 96 Injuries 531 Injuries 812 Injuries 708 Birth Defects Mortality and Survival Short Gestation Birth Malignant Malignant Homicide 130 Homicide 249 Suicide /Low Birth Weight 370 Defects 51 Neoplasms 48 Neoplasms 27 3 SIDS 227 Homicide 41 Birth Defects 18 Homicide 19 Suicide 129 Suicide 208 Homicide 233 Maternal Pregnancy Malignant Neo Homicide 12 Suicide 13 Malignant Malignant Malignant 4 Compliplasms 35 Neoplasms 77 Neoplasms 75 Neoplasms 112 cations Unintentional Injury 103 Heart Disease 18 Heart Disease 8 Birth Defects 10 Heart Disease 26 Heart Disease 55 Heart Disease 91 Placenta, Cord, Septicemia 17 Chronic, Low Heart Birth Defects 16 Pregnancy/ HIV 38 6 Membranes Complications Respiratory Disease 4 Disease 10 Childbirth Bacterial Influenza/ Benign Chronic, Low Cerebrovascular Birth Defects 16 Birth Defects 23 7 Sepsis 84 Pneumonia 11 Neoplasms 4 Respiratory Disease 5 9 Circulatory Perinatal Septicemia 4 Septicemia 5 Influenza/ HIV 12 Diabetes 23 8 System Diseases 59 Period 7 Pneumonia 8 9 Nectrotizing Entercolitis 47 Benign Neoplasms 6 Cerebrovascular 3 Anemias 3 Septicemia 7 Influenza/ Pneumonia 10 Cerebrovascular 23 Atelectasis 44 Chronic, Low Influenza/ 4 Conditions Pregnancy/ 3 Conditions 2 Conditions 10 Respiratory Disease 5 Pneumonia 3 2/Each Childbirth 5 8/Each 17/Each 4

5 Impact of Maternal Ethnicity, Gestational Age, and Size at Birth on Mortality from Birth Defects, Texas, Maternal Ethnicity 50% increased risk of mortality for NH Black infants vs. NH White infants with birth defects No increased risk of mortality for Hispanic infants vs. NH White infants with birth defects Gestational Age 2.7 fold increased mortality risk for infants with birth defects born preterm (vs. full term) Fetal Growth 2 fold increased risk of mortality for infants born SGA 50% reduction in risk of mortality for infants born LGA. Takeaway Points from 6 Survival Studies on Texas Children Born with Heart Defects, Non Hispanic black children in Texas had a higher risk of death from several important heart defects, compared to non Hispanic white children Texas children had a higher risk of death from specific heart defects if they: were born in an earlier time period ( vs ) had co occurring extracardiac defects Among the major heart defects, hypoplastic left heart syndrome had the lowest probability of survival in Texas children (roughly 1/3 survived 5 yrs.) Mortality from hypoplastic left heart syndrome in Texas: pre surgical mortality was highest for those with greatest driving distance from the birth hospital to a cardiac surgical center post surgical mortality was lower for cardiac specialty centers with higher patient volume Nembhard WN et al Birth Defects Res A Clin Mol Teratol Infant Case Fatality (%) for Critical Congenital Heart Defects Targeted for Pulse Oximetry Screening, Texas, Hypoplastic left heart syndrome Double outlet right ventricle Single ventricle Pulmonary valve atresia Interrupted aortic arch Total anomalous pulmonary venous return Ebstein anomaly Common truncus Tricuspid valve atresia Transposition of the great arteries Coarctation of aorta Tetralogy of Fallot Case Fatality Rate Other Findings Neonatal and Infant Case Fatality (%) [(#deaths/#cases) x 100], Hypoplastic Left Heart Syndrome, Texas, Case Fatality Rate Year Infant Neonate Research Focus: First 20 years Obesity and Birth Defects Urban vs. Rural Residence Gastroschisis in Texas Childhood Cancer and Birth Defects Hospital Charges and Utilization Maltreatment of Children with Birth Defects Texas Neural Tube Defect Project 5

6 Program/Center Research Focus: First 20 years Environmental Hazards and Birth Defects Hazardous Waste Sites Air Pollution and Hazardous Air Pollutants Pesticides Occupational Racial/Ethnic Disparities in Occurrence of Birth Defects Mortality/Survival of Children Born with Heart Defects* Obesity Urban/Rural and Border/non Border Differences in Occurrence* Genetic Factors Nitrates, Nitrites, and Nitrosatable Drugs Newborn Screening Analytes and Birth Defects Specific Birth Defects: Neural Tube Defects, Particularly on the Border w/ Mexico Anotia/Microtia Choanal Atresia *Highlighted in subsequent slides Adjusted Odds Ratios for Pre-pregnancy Obesity and Selected Isolated Birth Defects, aor 3 Urban vs. Rural Prevalence of Selected Birth Defects in Texas Birth Prevalence Ratio AN SB HYD A/M CP CLP Ano HYP LIM HEA OMP GAS 0 U - R U - - R U - - R Encephalocele Tetralogy of Fallot Cleft Lip Luben TJ et al. Urban rural residence and the occurrence of neural tube defects in Texas. Health and Place 2009 Langlois PH et al. Occurrence of conotruncal heart defects in Texas: A comparison of urban/rural classifications. J Rural Health 2009 Messer LC et al. Urban rural residence and the occurrence of cleft lip and palate in Texas. Ann Epid (in press) Waller DK et al Archives Pediatr & Adolesc Med Prevalence of Gastroschisis, in Cases per 10,000 Live Births, Texas, Prevalence of Gastroschisis Over Time, Texas, Texas statewide prevalence = 5.1 cases per 10,000 live births Arrows indicate statistically significant higher ( ) or lower ( ) prevalence, compared to Texas statewide prevalence. 6

7 Gastroschisis: Summary of Findings from Texas After adjusting for important related factors, the occurrence in whites and Hispanics are similar, and occurrence in blacks are 60% lower than whites. (National data: Hispanics higher among mothers 20+ years of age.) Are Texas Children with Birth Defects at Higher Risk of Childhood Cancer? Results There was no clear relationship between gastroschisis and maternal education or infant sex. Occurrence in teen mothers 15 times higher than the occurrence in mothers 30+ yrs. Higher in first births, compared to 2 nd births. Lower among multiple births, compared to single infant births. Highest in the Abilene/Midland area and lowest in the Houston/Galveston area. Nueces County (Corpus Christi) is the urban county with the highest gastroschisis prevalence. 50% higher number of cases in 2011 vs. 1999, with a 5% increase in cases per year 70 80% lower in obese Texas mothers, compared to normal weight mothers. Highest Total Hospital Charges Due to Congenital Anomalies Primary Diagnosis, Texas, Hospital Utilization and Charges for Children with Birth Defects $1,000 Distribution of Charges by Payment Source for Congenital Anomalies Primary Diagnosis Texas, Highest Median Length of Hospital Stay Due to Congenital Anomalies Primary Diagnosis, Texas, Millions of Dollars $800 $600 $ $200 $ Other $19 $24 $41 $31 $37 $62 $78 Private $183 $191 $215 $250 $278 $300 $319 Medicaid $299 $351 $347 $388 $429 $515 $516 7

8 Maltreatment and Birth Defects: Methods Study population: > 3 million Texas children born , without any birth defect ( unexposed ) or with target birth defects ( exposed ) Down syndrome (cognitive realm) n=3,743 Spina bifida (physical realm) n=971 Cleft lip (CLP) (communication realm) n=2,943 Primary outcome confirmed maltreatment (reported at CPS/Texas DFPS): Physical Sexual Emotional abuse Neglectful supervision Medical or physical neglect Refusal to assume parental responsibility Abandonment Data linkage: Birth defect cases in Texas Registry linked to birth certificates (routine) Child Protective Services (CPS) client list linked to Texas birth certificates Analysis: Cox regression to calculate hazard ratios, adjusted for SES, etc. Results: Maltreatment among Children with Specific Birth Defects (compared to kids w/o birth defects) Risk of confirmed maltreatment varied by birth defect, age, and type of maltreatment. Adjusted relative risk of maltreatment (<2 yrs.) Spina bifida: 1.68 (95% CI= ) CLP: 1.40 (95% CI= ) Down syndrome: 1.08 ( ) (no difference) Among maltreated, risk of medical neglect 3 6 times higher in children in this age group with these birth defects Texas Neural Tube Defect (NTD) Project Summary of Important Findings Maternal Environmental Exposures Associated w/ NTDs: TX Mexico Border: Pesticides In/around home or yard Living near cultivated fields Solvents (hobbies, work) Other work exposures Glycol ethers Cleaning and health care professions Mercury (but only among highest income subjects) *Burned treated wood *Nitrosatable drugs (esp. w/ higher levels of nitrite/nitrate intake) Cigarette smoke (active smoking and second hand) *Fumonisins Maternal Environmental Exposures NOT Associated w/ NTDs: PCBs Lead, Arsenic, Cadmium Aflatoxins *Novel findings 45 Texas Neural Tube Defect (NTD) Project Summary of Important Findings Other Factors Associated w/ NTDs: Low serum B12 post partum Independent of vitamin use, dietary B12/folate, RBC folate Decreasing risk with increasing B12 levels *High blood insulin levels post partum Independent of hyperglycemia, obesity High serum homocysteine levels post partum Independent of RBC folate, serum B12 *Low serum ferritin post partum *Stress in the periconceptional period *Diarrhea in the periconceptional period Dieting in the periconceptional period Periconceptional fever/hyperthermia Genetic polymorphisms, including for enzymes in FA pathway *Novel findings 46 8

9 Pan American Health Organization Epidemiological Alert: Dec. 1, 2015 Given the increase of congenital anomalies in areas where Zika virus is circulating and their possible relation to the virus, the PAHO/WHO recommends its Member States establish and maintain the capacity to to detect and confirm Zika virus cases, prepare healthcare facilities for the possible increase in demand and [to] strengthen antenatal care. Zika Virus: Vector and Transmission Zika virus is transmitted by Aedes aegypti and Aedes albopticus mosquitos Aedes aegypti mosquitos are also primary vectors of Dengue virus, Chikungunya virus, and yellow fever virus (CDC) Aedes species are day feeders that live in close proximity to humans (CDC) Both A. aegypti and A. albopticus are present in the USA, primarily in the southeastern region including Texas (CDC) Zika Virus and Microcephaly: Brazil A twenty fold increase in reported cases of microcephaly among newborns in Northeast Brazil relative to previous years coincides with the advent of autochthonous transmission of Zika virus in Brazil 2000 prevalence: 5.5/100,000 live births 2010 prevalence: 5.7/100,000 live births 2015 prevalence: 99.7/100,000 live births Brazilian authorities in November detected Zika virus in blood and tissue samples from a newborn born with microcephaly in Pará Prevalence per 10,000 Live Births Microcephaly By Year in Texas, Including possible cases Definite cases Year Program Resources 9

10 Mark A Canfield, PhD, Manager Birth Defects Epidemiology and Surveillance Branch Texas Department of State Health Services Phone: (512) mark.canfield@dshs.state.tx.us THANK YOU Web site: 10

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