Hospitalization charges for children with birth defects in Texas, 2001 to 2010.

BACKGROUND: State-specific information about hospitalizations of children with birth defects can improve understanding of changes in occurrence, treatment practices, and health care financing policies. This study analyzed aggregated data on hospital charges and length of stay for a large, diverse population. METHODS: We extracted hospitalization data for children diagnosed with birth defects from the Texas Hospital Inpatient Discharge Public Use Data File (2001-2010). Analyses compared total charges and length of stay for children with and without a diagnosis code of any birth defect among 45 standard categories. We also examined trends for total charges by expected payer type. RESULTS: In Texas, 431,296 hospital stays were reported for children with birth defects, with total charges of $24.8 billion. Mean hospital stay for children with birth defects was more than twice that of those without, whereas mean of hospital total charges was approximately six times greater. Pyloric stenosis accounted for the largest number of hospitalizations, followed by certain cardiac defects. Pediatric hospitalizations for birth defects increased 273.7%, compared with a 214.7% increase overall. The percentage of charges with Medicaid as expected payer (2004-2010) ranged from 56.5 to 62.0%. CONCLUSION: Charges associated with these conditions are far greater than those associated with pediatric hospitalizations for other causes, whether in the newborn period or beyond. However, these charges vary depending on specific diagnoses, expected payer source, and year of treatment.

Maltreatment of Children Under Age 2 With Specific Birth Defects: A Population-Based Study.

BACKGROUND AND OBJECTIVES: Children with disabilities are at an increased risk for maltreatment. However, the risk of maltreatment is unknown for children with specific types of birth defects. This study was conducted to determine whether the risk and predictors of maltreatment differ between children with and without 3 birth defects: Down syndrome, cleft lip with/without cleft palate, and spina bifida. METHODS: This population-based study of substantiated childhood maltreatment was conducted in Texas from 2002 to 2011. Linked data were used to describe the risk and types of maltreatment that occurred before age 2 years in children with and without specific birth defects. Poisson regression was used to identify predictors of maltreatment and assess differences in those predictors between children with and without these specific birth defects. RESULTS: The risk of maltreatment (any type) in children with cleft lip with/without cleft palate and spina bifida was increased by 40% and 58%, respectively, compared with children with no birth defects. The risk of any maltreatment was similar between children with Down syndrome and unaffected children. Across birth defect groups, the risk of medical neglect was 3 to 6 times higher than in the unaffected group. Child-, family-, and neighborhood-level factors predicted maltreatment in children with and without birth defects. CONCLUSIONS: The overall risk of substantiated maltreatment was significantly higher for some but not all birth defect groups. The factors associated with increased risk were similar across groups. Enhancement of existing maltreatment prevention and early intervention programs may be effective mechanisms to provide at-risk families additional support.

A modified panel of sentinel congenital anomalies for potential use in mutation epidemiology based on birth defects registry data.

Since 1983, several authors have used panels of "sentinel" congenital anomalies that might serve as indicators of the human genome mutation rate. The current study suggests a considerably updated panel, and applies it to public health birth defects registry data to determine the potential number of de novo cases. Data were taken from deliveries in 1999-2009 from the Texas Birth Defects Registry, an active surveillance program. Cases with one of the conditions or syndromes in the panel were identified using codes and text searches. Frequencies and birth prevalence were calculated for the overall panel and subcategories within it. Of the 60 conditions appearing in previous papers on sentinel phenotypes, 21 (35%) were used in the current study along with 27 new phenotypes. We found 1,694 cases. Of those, 1,100 exhibited phenotypes thought to arise de novo in at least 90% of the cases ("all/almost all" subpanel), and 594 considered de novo in roughly 50-90% of cases ("most" subpanel). Chromosomal deletion disorders were present in 523 cases and imprinting disorders in 243. After adjusting for maternal age, occurrence of cases in the total panel, "most" subpanel, and imprinting disorders subpanel were significantly associated with paternal age. Our panel of sentinel phenotypes differs from previous panels due to evolved knowledge of genetic disorders, different approaches with respect to interviewing, and different operational definitions. It is hoped that using an overall panel as well as subpanels may maximize statistical power as well as suggest potential mechanisms.

Association between thyroxine levels at birth and choanal atresia or stenosis among infants in Texas, 2004-2007.

BACKGROUND: The causes of choanal atresia or stenosis (CA) are largely unknown. Infant thyroxine (T(4) ) levels collected during newborn screening may be proxy measures for a risk factor present during the critical period of development. Therefore, we conducted a case-control study to examine the association between newborn T(4) levels and CA. METHODS: Data for cases with CA and controls were obtained from the Texas Birth Defects Registry for the period of 2004 to 2007. Information on infant T(4) levels at birth was obtained from the Texas Newborn Screening Program. Controls (n = 3570) were drawn from unaffected births in Texas for the same period and frequency matched to cases (n = 69) on year of birth, then linked to the newborn screening database. Logistic regression was used to evaluate the association between continuous and categorical infant T(4) levels and nonsyndromic CA. RESULTS: After adjustment for gestational age and year of birth, infant T(4) levels were inversely associated with CA (adjusted odds ratio [AOR], 0.85; 95% confidence interval [CI], 0.80-0.90). We observed a linear trend (p < 0.001) across quartiles of T(4) ; compared to infants with low levels, AORs for CA were 0.50 (95% CI, 0.28-0.91), 0.39 (95% CI, 0.20-0.75), and 0.15 (95% CI, 0.06-0.40) for infants with medium-to-low, medium, and high levels, respectively. CONCLUSIONS: Our findings suggest a role of low thyroid hormone levels in the development of CA, or that low newborn T(4) levels are potential proxy measures of a risk factor present during the critical period. Birth Defects Research (Part A), 2012.

The association between neonatal thyroxine and craniosynostosis, Texas, 2004-2007.

BACKGROUND: Craniosynostosis (CS), a structural anomaly characterized by premature fusion of cranial sutures, occurs in 1 in 2000 live births. Associations of CS with the thyroid have been reported. Neonatal thyroid hormone (T4) is evaluated nationally at birth by the Newborn Screening Program (NBS). This study evaluated the relationship between NBS T4 levels and craniosynostosis. METHODS: Live-born singleton babies born in 2004 through 2007 were identified through the Texas Birth Defects Registry (499 cases) and Texas Bureau of Vital Statistics (3570 controls) and successfully linked to analyte data available in the Texas NBS Database. Cases were classified based on the absence of other major defects (isolated cases, n = 382) and suture(s) involved. Mean T4 levels were compared between controls and cases (overall and stratified by classification). T4 levels were stratified by quintiles to evaluate differences between cases and controls within quintiles. The diagnostic utility of NBS T4 was evaluated using receiver operator characteristic (ROC) curves. RESULTS: Mean T4 levels were lower in isolated cases (16.89 µg/dl) than in controls (17.77 µg/dl; p = 0.0004). This trend persisted for sagittal (16.69 µg/dl; p = 0.002) and metopic (16.83 µg/dl; p = 0.042) CS. When stratified by quintiles, 54% of isolated lambdoid CS were in the first quintile compared to controls (p = 0.012). ROC area under the curve (AUC) was approximately 0.55 for all classifications except lambdoid (AUC = 0.73). CONCLUSION: NBS T4 levels were slightly lower among cases with nearly half of all lambdoid CS having T4 levels in the lowest quintile. However, overall NBS T4 levels are not suitable for potential screening or diagnostic application.

Descriptive epidemiology of selected heritable birth defects in Texas.

BACKGROUND: Few population-based studies exist on descriptive epidemiologic characteristics of rare heritable birth defects. The number of birth defect cases in the Texas Birth Defects Registry (one of the largest active birth defects surveillance systems in the world) enabled us to examine six different heritable disorders (aqueductal stenosis, infantile polycystic kidney disease, achondroplasia, thanatophoric dwarfism, chondrodysplasia/dwarfism not otherwise specified (NOS), and osteogenesis imperfecta) for a variety of descriptive demographic variables. METHODS: The Texas Birth Defects Registry was used to identify infants or fetuses with heritable birth defects. Crude prevalence rates were calculated and Poisson regression was used to test the association of each demographic variable (e.g., maternal age) with each of the selected genetic birth defects. RESULTS: White non-Hispanics exhibited higher rates of achondroplasia and osteogenesis imperfecta than other race/ethnic groups. Lower maternal education level and to a lesser extent, paternal education level, was associated with higher rates of several disorders. The birth prevalence rate for achondroplasia decreased from 1999 through 2006. CONCLUSION: The use of a large birth defects registry provides a sufficient count of cases to perform some basic epidemiologic analysis on selected rare heritable birth defects.