Abstract
Objectives
To examine racial/ethnic-specific survival of children with major birth defects in the US.
Study design
We pooled data on live births delivered during 1999-2007 with any of 21 birth defects from 12 population-based birth defects surveillance programs. We used the Kaplan-Meier method to calculate cumulative survival probabilities and Cox proportional hazards models to estimate mortality risk.
Results
For most birth defects, there were small-to-moderate differences in neonatal (<28 days) survival among racial/ethnic groups. However, compared with children born to non-Hispanic white mothers, postneonatal infant (28 days to <1 year) mortality risk was significantly greater among children born to non-Hispanic black mothers for 13 of 21 defects (hazard ratios [HRs] 1.3-2.8) and among children born to Hispanic mothers for 10 of 21 defects (HRs 1.3-1.7). Compared with children born to non-Hispanic white mothers, a significantly increased childhood (≤8 years) mortality risk was found among children born to Asian/Pacific Islander mothers for encephalocele (HR 2.6), tetralogy of Fallot, and atrioventricular septal defect (HRs 1.6-1.8) and among children born to American Indian/Alaska Native mothers for encephalocele (HR 2.8), whereas a significantly decreased childhood mortality risk was found among children born to Asian/Pacific Islander mothers for cleft lip with or without cleft palate (HR 0.6).
Conclusion
Children with birth defects born to non-Hispanic black and Hispanic mothers carry a greater risk of mortality well into childhood, especially children with congenital heart defect. Understanding survival differences among racial/ethnic groups provides important information for policy development and service planning.
Birth defects are a leading cause of infant death in the US.1 National vital statistics data are critical to our understanding of infant mortality2 and child and adult mortality.3,4 However, compared with population-based birth defects surveillance systems, birth certificates have relatively poor sensitivity and specificity for the reporting of birth defects.5 Linking population-based birth defects surveillance data to state death certificates and the National Death Index (NDI) can provide high high-quality information on both short- and long-term survival of children with birth defects.
There have been several previous studies on survival of infants with birth defects using statewide6-14 or regional15-21 population-based birth defects surveillance data. The use of pooled data from several surveillance systems in the US, however, has been limited to only a few studies of individual defects.22-24 Previous literature suggests that the mortality and survival experience of children with birth defects differs by specific birth defect phenotype and by demographic factors such as maternal race/ethnicity.12-14,25-28 Racial/ethnic disparities in infant and child mortality were found among Florida29 and Texas infants with birth defects25,27,28 but not among New York children (up to 25 years) with birth defects.12
To date, no studies using pooled population-based surveillance data have investigated the survival of children with a broad range of birth defects. A recent study using pooled data from 12 population-based birth defects surveillance programs in the US examined the relationship between race/ethnicity and occurrence of selected major birth defects.30 Using that study population, in the current study we estimated infant and child survival by birth defect subtype and race/ethnicity among live-born individuals with selected birth defects.
Methods
Information on all live births with any of the selected major birth defects was obtained from 12 participating population-based birth defects surveillance programs: Arizona, Colorado, Florida, Georgia (5 counties of metropolitan Atlanta), Illinois, Massachusetts, Michigan, Nebraska, New Jersey, New York (excludes New York City), North Carolina, and Texas. Surveillance programs matched cases to state birth certificate records to obtain data on maternal race/ethnicity, classified as non-Hispanic white (NHW), non-Hispanic black (NHB), Hispanic, Asian/Pacific Islander (A/PI), and American Indian/Alaska Native (AI/AN). The study protocol was reviewed and approved by the participating states’ institutional review boards, as necessary.
The birth defects included in the study were spina bifida without anencephalus; encephalocele; common truncus; transposition of great arteries; tetralogy of Fallot; atrioventricular septal defect (AVSD) (and a subgroup without co-occurring Down syndrome); aortic valve stenosis; hypoplastic left heart syndrome; coarctation of the aorta; cleft palate without cleft lip; cleft lip with or without cleft palate; esophageal atresia/s tracheoesophageal fistula; pyloric stenosis; rectal, anal, and large intestinal atresia/stenosis; upper and lower limb deficiencies; diaphragmatic hernia; gastroschisis; omphalocele; and Down syndrome. States selected cases from their surveillance systems for inclusion in this analysis based on a list of specified International Classification of Diseases, 9th Revision, Clinical Modification or Centers for Disease Control and Prevention/British Pediatric Association Classification of Diseases codes that are used for annual reporting by the National Birth Defects Prevention Network.31 The birth defects included are not mutually exclusive, and infants with multiple defects were included in each relevant birth defect category.
Each state surveillance program linked its case information to the state's death certificate data files to obtain the vital status information of the study cohort. The follow-up period for children in the study ranged from 1 (for those born at the end of 2007 followed through the end of 2008) up to 9 years (for those born in the beginning of 1999 followed through the end of 2008). Illinois and Nebraska programs only provided vital status information for the first year. If a child was deceased, participating programs provided the date of death and duration of life in days. Additional data sources used to obtain vital status information included hospital discharge files (Arizona, Texas), medical records (Arizona, Texas), and the NDI (Georgia, Michigan).
Statistical Analyses
The Kaplan-Meier product limit method was used to calculate survival probabilities (<1 day, <7 days, <28 days, <1 year, <2 years, ≤8 years) for specific defects and by maternal race/ethnicity. Greenwood method was used to calculate 95% CIs. The infant survival analysis was conducted using data from all 12 birth defects surveillance programs. For the analyses of survival beyond infancy, data for those born during 1999-2005 from 10 programs (note: Massachusetts was 2000-2007 and North Carolina was 2003-2007) were analyzed; Illinois and Nebraska were excluded from the analyses of survival beyond infancy because they did not provide vital status data beyond one year of life. Because the birth cohort for one of the participating states (New Jersey) was through 2005 only, 2005 was chosen as the latest birth year to be included for all 10 programs in the analysis. Thus, the longest possible period of follow-up was just under 9 years (infants born in the beginning of 1999 with follow-up though the end of 2008).
Multivariable analyses using Cox proportional hazards models were conducted to estimate the mortality risk, the hazard ratio (HR), for each birth defect, with adjustment for the following covariates: birth weight and gestational age (<37 weeks and <2500 g, <37 weeks and ≥2500 g, ≥37 weeks and <2500 g, and ≥37 weeks and ≥2500 g),22 maternal age (<35 and ≥35 years), birth period (1999-2000, 2001-2002, 2003-2005, and 2006-2007), and state surveillance program. These variables were selected because bivariate analyses indicated these factors were associated with survival (P < .1). Other factors, such as mother's birth country, marital status, insurance status, and method of delivery were excluded from the multivariable models because they were not available from all participating surveillance programs. SAS Version 9.2 (SAS Institute, Cary, North Carolina) was used for all statistical analyses.
Results
The study cohort contained 98 833 children born alive in 1999-2007 with at least 1 of the selected major birth defects and ascertained from the 12 state surveillance programs (Table I; available at www.jpeds.com) among approximately 14 million live births (about 39% of all live births in the US during the study period). The study cohort did not include 2007 births from Colorado, Illinois, Michigan, and Nebraska and 2006-2007 births from New Jersey because of unavailability of the vital status data; the earliest available data were 2000 for Massachusetts and 2003 for North Carolina. A total of 9997 deaths were identified in the study cohort, with 8893 (89%) occurring during infancy.
Table I.
Summary of the study cohort (children with selected birth defects) by participating state birth defects surveillance programs and maternal race/ethnicity, National Birth Defects Prevention Network, 1999-2007
| Number of live births, total deaths and infant deaths* and childhood deaths† by race/ethnicity |
|||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total‡ |
NHW |
NHB |
Hispanic |
A/PI |
AI/AN |
||||||||||||||
| State | Birth cohort years§ | Live births | Total deaths | Infant deaths | Live births | Infant deaths | Child-hood deaths | Live births | Infant deaths | Child-hood deaths | Live births | Infant deaths | Child-hood deaths | Live births | Infant deaths | Child-hood deaths | Live births | Infant deaths | Child-hood deaths |
| Arizona | 1999-2007 | 5526 | 726 | 632 | 2334 | 252 | 234 | 130 | 22 | 20 | 2413 | 284 | 251 | 120 | 18 | 13 | 410 | 52 | 48 |
| Colorado | 1999-2006 | 4992 | 512 | 455 | 2983 | 271 | 252 | 156 | 30 | 27 | 1496 | 140 | 137 | 109 | 8 | 7 | 33 | 6 | ¶ |
| Florida | 1999-2007 | 16 745 | 1444 | 1202 | 9494 | 555 | 493 | 2883 | 351 | 307 | 3952 | 257 | 209 | 262 | 25 | 23 | 43 | ¶ | ¶ |
| Georgia** | 1999-2007 | 3190 | 331 | 303 | 1420 | 99 | 83 | 1003 | 135 | 120 | 571 | 50 | 50 | 113 | 10 | 10 | 6 | ¶ | ¶ |
| Illinois | 1999-2006 | 7039 | 938 | 938 | 4038 | 492 | - | 1121 | 212 | - | 1562 | 191 | - | 283 | 42 | - | 9 | 0 | - |
| Massachusetts | 2000-2007 | 3222 | 246 | 223 | 2288 | 129 | 104 | 228 | 35 | 28 | 374 | 38 | 30 | 163 | 9 | 6 | 12 | 0 | 0 |
| Michigan | 1999-2006 | 9071 | 861 | 724 | 6845 | 455 | 463 | 1314 | 138 | 145 | 529 | 54 | 56 | 222 | 13 | 18 | 37 | ¶ | ¶ |
| North Carolina | 2003-2007 | 4978 | 630 | 565 | 3059 | 292 | 204 | 880 | 138 | 80 | 831 | 101 | 61 | 90 | 19 | 10 | 117 | 15 | 8 |
| Nebraska | 1999-2006 | 1750 | 95 | 95 | 1408 | 76 | - | 71 | ¶ | - | 201 | 8 | - | 31 | ¶ | - | 26 | ¶ | - |
| New Jersey | 1999-2005 | 5006 | 442 | 406 | 2699 | 161 | 172 | 689 | 94 | 110 | 1253 | 109 | 115 | 309 | 34 | 36 | ¶ | 0 | 0 |
| New York†† | 1999-2007 | 9429 | 796 | 705 | 7168 | 513 | 472 | 756 | 87 | 76 | 1142 | 81 | 69 | 217 | 17 | 18 | 48 | ¶ | ¶ |
| Texas | 1999-2007 | 27 885 | 2976 | 2645 | 10 783 | 870 | 761 | 2132 | 330 | 271 | 14 173 | 1375 | 1126 | 605 | 52 | 49 | 67 | 6 | ¶ |
| Total | 1999-2007 | 98 833 | 9997 | 8893 | 54 519 | 4165 | 3238 | 11 363 | 1575 | 1184 | 28 497 | 2688 | 2104 | 2524 | 249 | 190 | 811 | 91 | 74 |
The number of live births, total deaths (≤8 years) and infant deaths (<1 year) were determined using the cohort including all children with birth defects born in 1999-2007 from 12 states.
The number of childhood deaths (infant deaths plus deaths beyond infancy; ≤8 years) was determined using the cohort including children with birth defects born in 1999-2005 from 10 states; data from Illinois and Nebraska were excluded because there were no vital status data available beyond infancy.
The total includes the “other” racial/ethnic group.
The birth cohort years vary by state because of the availability of the birth defect data and vital status of the cases.
Data were suppressed when the number of observations was ≤5.
Georgia includes 5 counties of metropolitan Atlanta.
New York State excludes New York City.
The lowest 1-day and 7-day survival probabilities were found for encephalocele (Table II). Children with hypoplastic left heart syndrome had the lowest neonatal (<28 days), infant (<1 year), and childhood (<2 years and <8 years) survival probability. Of the 21 birth defects studied, 6 (spina bifida, cleft palate, cleft lip with or without cleft palate, pyloric stenosis, gastroschisis, and Down syndrome) had >90% survival for all ages examined. At every age, children with AVSD without co-occurring Down syndrome experienced poorer survival than children with AVSD overall.
Table II.
Overall survival probabilities and 95% CIs for infants and children with selected birth defects by survival age and birth defect category based on pooled data from 12 state birth defects surveillance programs, National Birth Defects Prevention Network, 1999-2007
| Infant survival probability* (95% CI) |
Childhood (up to 8 years) survival probability† (95% CI) |
|||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Birth defects | No. live births with defects‡ | No. deaths with defects‡ | <1 d | <7 d | <28 d | <1 y | No. live births with defects‡ | No. deaths with defects‡ | <2 y | ≤8 y |
| Central nervous system defects | ||||||||||
| Spina bifida without anencephalus | 3903 | 318 | 96.9 (96.3-97.4) | 95.4 (94.7-96.0) | 94.3 (93.5-95.0) | 91.9 (90.9-92.7) | 2704 | 266 | 90.7 (89.6-91.8) | 90.2 (89.0-91.2) |
| Encephalocele | 909 | 254 | 88.6 (86.3-90.5) | 80.2 (77.5-82.6) | 77.7 (74.8-80.2) | 72.1 (69.0-74.9) | 627 | 189 | 70.3 (66.6-73.7) | 69.9 (66.1-73.3) |
| Congenital heart defects | ||||||||||
| Common truncus | 956 | 238 | 98.2 (97.2-98.9) | 94.1 (92.5-95.5) | 87.2 (85.0-89.2) | 75.1 (72.2-77.7) | 670 | 191 | 72.4 (68.8-75.6) | 71.5 (67.9-74.8) |
| Transposition of great arteries | 4330 | 705 | 98.7 (98.3-99.0) | 95.5 (94.8-96.0) | 90.9 (90.1-91.8) | 83.7 (82.6-84.8) | 3160 | 601 | 82.0 (80.6-83.3) | 81.0 (79.6-82.3) |
| Tetralogy of Fallot | 5208 | 674 | 99.3 (99.1-99.5) | 97.2 (96.8-97.6) | 94.6 (94.0-95.2) | 87.1 (86.1-87.9) | 3730 | 573 | 85.5 (84.4-86.6) | 84.6 (83.4-85.8) |
| AVSD | 4884 | 972 | 98.8 (98.5-99.1) | 95.7 (95.1-96.2) | 91.6 (90.7-92.3) | 80.1 (79.0-81.2) | 3523 | 825 | 78.1 (76.7-79.4) | 76.6 (75.1-77.9) |
| AVSD (without Down syndrome) | 2450 | 711 | 98.0 (97.4-98.5) | 92.5 (91.4-93.5) | 86.0 (84.5-87.3) | 71.0 (69.1-72.7) | 1810 | 594 | 69.1 (66.9-71.1) | 67.2 (65.0-69.3) |
| Aortic valve stenosis | 2646 | 435 | 99.2 (98.8-99.5) | 96.3 (95.5-97.0) | 91.8 (90.7-92.8) | 83.6 (82.1-84.9) | 1958 | 363 | 82.5 (80.7-84.1) | 81.5 (79.7-83.1) |
| Hypoplastic left heart syndrome | 2976 | 1334 | 96.9 (96.2-97.5) | 87.0 (85.7-88.2) | 73.1 (71.5-74.7) | 55.2 (53.4-56.9) | 2077 | 1030 | 52.7 (50.5-54.8) | 50.4 (48.2-52.5) |
| Coarctation of aorta | 6365 | 985 | 99.4 (99.2-99.6) | 97.0 (96.5-97.4) | 92.5 (91.8-93.1) | 84.5 (83.6-85.4) | 4543 | 826 | 82.7 (81.5-83.7) | 81.8 (80.7-82.9) |
| Oral clefts | ||||||||||
| Cleft palate without cleft lip | 7356 | 660 | 98.3 (98.0-98.6) | 96.5 (96.0-96.9) | 94.8 (94.2-95.3) | 91.0 (90.4-91.7) | 5204 | 504 | 90.9 (90.1-91.6) | 90.3 (89.5-91.1) |
| Cleft lip with or without cleft palate | 11 862 | 999 | 97.7 (97.4-98.0) | 95.3 (94.9-95.7) | 94.0 (93.5-94.4) | 91.6 (91.1-92.1) | 8351 | 771 | 91.2 (90.6-91.8) | 90.8 (90.1-91.4) |
| Gastrointestinal defects | ||||||||||
| Esophageal atresia/tracheoesophageal fistula | 3084 | 476 | 97.5 (96.9-98.0) | 92.9 (91.9-93.8) | 90.0 (88.9-91.0) | 84.6 (83.2-85.8) | 2192 | 356 | 84.4 (82.8-85.8) | 83.8 (82.1-85.2) |
| Pyloric stenosis | 21 233 | 109 | 100.0 (100.0-100.0) | 100.0 (99.9-100.0) | 99.9 (99.9-100.0) | 99.5 (99.4-99.6) | 15 883 | 110 | 99.4 (99.3-99.5) | 99.3 (99.2-99.4) |
| Rectal and large intestinal atresia/stenosis | 5400 | 702 | 95.9 (95.3-96.4) | 92.6 (91.8-93.2) | 90.9 (90.1-91.6) | 87.0 (86.1-87.9) | 3866 | 537 | 86.6 (85.5-87.6) | 86.1 (85.0-87.2) |
| Musculoskeletal defects | ||||||||||
| Upper limb deficiencies | 3602 | 387 | 96.5 (95.8-97.0) | 94.0 (93.2-94.8) | 92.6 (91.7-93.4) | 89.3 (88.2-90.2) | 2527 | 298 | 88.6 (87.3-89.8) | 88.2 (86.9-89.4) |
| Lower limb deficiencies | 1913 | 219 | 94.9 (93.8-95.8) | 92.9 (91.7-94.0) | 91.5 (90.1-92.6) | 88.6 (87.0-89.9) | 1349 | 159 | 88.7 (86.8-90.2) | 88.2 (86.4-89.8) |
| Diaphragmatic hernia | 3248 | 1017 | 91.8 (90.8-92.7) | 83.9 (82.6-85.1) | 76.1 (74.6-77.5) | 68.7 (67.1-70.3) | 2174 | 695 | 68.3 (66.3-70.2) | 68.0 (66.0-69.9) |
| Gastroschisis | 3698 | 266 | 98.5 (98.0-98.8) | 96.7 (96.1-97.3) | 95.8 (95.1-96.4) | 92.8 (91.9-93.6) | 2326 | 183 | 92.3 (91.1-93.3) | 92.1 (91.0-93.2) |
| Omphalocele | 1281 | 367 | 88.7 (86.8-90.3) | 82.1 (79.9-84.1) | 78.5 (76.1-80.6) | 71.4 (68.8-73.7) | 844 | 243 | 71.4 (68.3-74.4) | 71.2 (68.0-74.1) |
| Chromosomal defects | ||||||||||
| Trisomy 21 (Down syndrome) | 15939 | 944 | 98.9 (98.7-99.0) | 98.1 (97.9-98.3) | 97.2 (96.9-97.4) | 94.1 (93.7-94.4) | 10880 | 787 | 93.4 (92.9-93.8) | 92.8 (92.3-93.2) |
Children born in 1999-2007 from all 12 states.
Children born in 1999-2005 from 10 states; data from Illinois and Nebraska were excluded because no vital status data beyond infancy were available.
Children with 2 or more birth defects may be counted in multiple categories.
For most birth defects examined (excluding spina bifida, tetralogy of Fallot, pyloric stenosis, and Down syndrome), there were small-to-moderate (≤5%) absolute differences in neonatal survival among the 3 major racial/ethnic groups (NHW, NHB, and Hispanic); the differences were striking for common truncus, esophageal atresia/tracheoesophageal fistula, and diaphragmatic hernia (Table III). Similarly, with the exception of spina bifida, pyloric stenosis and Down syndrome, all birth defects exhibited at least a 5% difference in infant survival across the 3 major racial/ethnic groups; infants born to NHB and Hispanic mothers had consistently lower infant survival than those born to NHW mothers. Neonatal survival among infants of A/PI and AI/AN mothers generally was comparable with that of NHW mothers with the exceptions of markedly lower survival for encephalocele and hypoplastic left heart syndrome, and common truncus (AI/AN only). At least a 5% lower infant survival was found among infants of A/PI and AI/AN mothers for several defects: encephalocele, common truncus, AVSD, hypoplastic left heart syndrome, coarctation of the aorta, and omphalocele.
Table III.
Survival probabilities and 95% CIs for infants with selected birth defects by survival age (<28 days, <1 year), birth defect category, and maternal race/ethnicity based on pooled data from 12 state birth defects surveillance programs, National Birth Defects Prevention Network, 1999-2007
| Neonatal survival probability (<28 d) |
Infant survival probability (<1 y) |
|||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Birth defects* | NHW | NHB | Hispanic | A/PI | AI/AN | NHW | NHB | Hispanic | A/PI | AI/AN |
| Central nervous system defects | ||||||||||
| Spina bifida without anencephalus | 94.0 (92.9-95.0) | 92.8 (90.1-94.7) | 95.2 (93.9-96.2) | 98.4 (88.9-99.8) | 94.1 (78.5-98.5) | 92.0 (90.7-93.1) | 88.6 (85.4-91.1) | 92.7 (91.1-94.0) | 98.4 (88.9-99.8) | 91.2 (75.1-97.1) |
| Encephalocele | 77.8 (73.3-81.6) | 83.8 (77.8-88.2) | 75.2 (69.8-79.7) | 66.7 (40.4-83.4) | 58.3 (27.0-80.1) | 73.6 (68.9-77.7) | 78.2 (71.7-83.3) | 67.6 (61.9-72.6) | 66.7 (40.4-83.4) | 41.7 (15.2-66.5) |
| Congenital heart defects | ||||||||||
| Common truncus | 90.9 (88.1-93.1) | 84.3 (77.5-89.2) | 81.6 (76.2-85.9) | 91.7 (53.9-98.8) | 72.7 (37.1-90.3) | 80.3 (76.7-83.5) | 68.0 (59.9-74.7) | 68.2 (61.9-73.6) | 75.0 (40.8-91.2) | 72.7 (37.1-90.3) |
| Transposition of great arteries | 91.5 (90.3-92.6) | 88.2 (85.3-90.6) | 91.3 (89.5-92.8) | 92.9 (87.5-96.0) | 88.5 (68.4-96.1) | 86.0 (84.6-87.4) | 75.0 (71.2-78.4) | 83.1 (80.7-85.1) | 86.4 (79.9-90.9) | 76.9 (55.7-88.9) |
| Tetralogy of Fallot | 95.0 (94.1-95.7) | 94.4 (92.7-95.8) | 94.1 (92.7-95.3) | 93.8 (89.5-96.3) | 93.0 (79.9-97.7) | 89.5 (88.3-90.6) | 83.6 (81.1-85.9) | 84.4 (82.3-86.3) | 86.5 (81.1-90.5) | 83.7 (68.9-91.9) |
| AVSD | 92.9 (91.9-93.8) | 90.4 (88.2-92.2) | 89.4 (87.4-91.1) | 88.9 (82.0-93.3) | 95.7 (72.9-99.4) | 84.1 (82.7-85.5) | 76.4 (73.5-79.1) | 74.1 (71.5-76.6) | 76.2 (67.7-82.7) | 60.9 (38.3-77.4) |
| AVSD (without Down syndrome) | 87.6 (85.6-89.3) | 84.6 (81.0-87.6) | 84.0 (80.9-86.6) | 83.3 (72.5-90.2) | 93.3 (61.3-99.0) | 75.6 (73.1-77.9) | 67.9 (63.5-71.9) | 64.9 (61.1-68.5) | 68.1 (56.0-77.5) | 60.0 (31.8-79.7) |
| Aortic valve stenosis | 92.5 (91.2-93.7) | 87.7 (82.6-91.3) | 90.7 (88.3-92.7) | 98.3 (88.6-99.8) | 95.2 (70.7-99.3) | 85.5 (83.7-87.1) | 78.4 (72.5-83.2) | 80.4 (77.2-83.2) | 91.5 (80.8-96.4) | 76.2 (51.9-89.3) |
| Hypoplastic left heart syndrome | 74.0 (71.8-76.0) | 73.6 (69.5-77.3) | 72.2 (68.8-75.4) | 60.0 (46.5-71.1) | 58.8 (32.5-77.8) | 57.8 (55.4-60.2) | 51.5 (47.0-55.9) | 52.2 (48.4-55.8) | 50.0 (36.8-61.8) | 41.2 (18.6-62.6) |
| Coarctation of aorta | 92.9 (92.1-93.7) | 89.7 (87.4-91.7) | 92.8 (91.5-94.0) | 88.7 (82.5-92.8) | 92.3 (80.8-97.0) | 86.3 (85.1-87.3) | 77.2 (74.1-80.0) | 84.4 (82.5-86.0) | 80.1 (72.8-85.7) | 76.9 (63.0-86.2) |
| Oral clefts | ||||||||||
| Cleft palate without cleft lip | 95.7 (95.1-96.3) | 93.4 (91.5-95.0) | 92.8 (91.6-93.9) | 95.5 (92.2-97.4) | 98.2 (88.2-99.8) | 93.0 (92.2-93.7) | 87.2 (84.7-89.4) | 87.7 (86.1-89.1) | 92.5 (88.6-95.1) | 94.7 (84.6-98.3) |
| Cleft lip with or without cleft palate | 95.2 (94.7-95.7) | 90.3 (88.4-91.9) | 92.5 (91.5-93.3) | 97.0 (94.7-98.3) | 92.4 (87.5-95.4) | 93.5 (92.9-94.1) | 84.7 (82.4-86.7) | 89.7 (88.7-90.7) | 94.9 (92.2-96.7) | 91.3 (86.2-94.6) |
| Gastrointestinal defects | ||||||||||
| Esophageal atresia/tracheoesophageal fistula | 92.5 (91.2-93.6) | 84.7 (80.5-88.0) | 86.5 (83.9-88.8) | 88.1 (77.5-93.8) | 96.0 (74.8-99.4) | 88.2 (86.7-89.6) | 73.8 (68.9-78.0) | 80.6 (77.6-83.2) | 83.6 (72.3-90.6) | 92.0 (71.6-97.9) |
| Pyloric stenosis | 99.9 (99.9-100.0) | 99.9 (99.5-100.0) | 99.9 (99.8-100.0) | 100 | 100 | 99.5 (99.4-99.6) | 99.3 (98.8-99.6) | 99.5 (99.3-99.6) | 100 | 98.3 (93.5-99.6) |
| Rectal and large intestinal atresia/stenosis | 93.3 (92.3-94.2) | 89.7 (87.2-91.7) | 87.5 (85.8-89.0) | 88.1 (82.7-92.0) | 84.6 (64.0-93.9) | 90.3 (89.2-91.4) | 83.4 (80.4-85.9) | 82.7 (80.8-84.5) | 87.1 (81.5-91.1) | 84.6 (64.0-93.9) |
| Musculoskeletal defects | ||||||||||
| Upper limb deficiencies | 93.6 (92.4-94.6) | 91.0 (88.3-93.2) | 91.4 (89.5-92.9) | 96.8 (90.4-99.0) | 85.7 (69.0-93.8) | 91.4 (90.1-92.6) | 85.3 (82.0-88.1) | 87.3 (85.2-89.2) | 91.5 (83.7-95.7) | 85.7 (69.0-93.8) |
| Lower limb deficiencies | 92.9 (91.1-94.4) | 94.4 (91.3-96.4) | 87.5 (84.3-90.1) | 87.2 (73.8-94.1) | 81.0 (56.9-92.4) | 90.7 (88.7-92.3) | 89.6 (85.9-92.5) | 84.0 (80.5-86.9) | 87.2 (73.8-94.1) | 81.0 (56.9-92.4) |
| Diaphragmatic hernia | 76.6 (74.5-78.6) | 69.7 (65.2-73.7) | 78.5 (75.8-81.0) | 78.3 (69.2-85.0) | 78.6 (58.4-89.8) | 70.6 (68.3-72.7) | 59.5 (54.8-63.9) | 70.2 (67.2-73.0) | 69.8 (60.1-77.6) | 67.9 (47.3-81.8) |
| Gastroschisis | 95.9 (94.9-96.8) | 93.3 (90.1-95.5) | 96.5 (95.4-97.3) | 95.2 (85.7-98.4) | 91.2 (80.2-96.3) | 93.0 (91.8-94.1) | 89.5 (85.8-92.3) | 93.5 (92.1-94.7) | 90.3 (79.7-95.5) | 89.5 (78.1-95.1) |
| Omphalocele | 79.6 (76.3-82.5) | 80.2 (73.9-85.1) | 75.4 (70.8-79.4) | 80.6 (61.9-90.8) | 81.8 (44.7-95.1) | 73.9 (70.3-77.1) | 74.6 (67.9-80.1) | 66.2 (61.2-70.7) | 67.7 (48.4-81.2) | 63.6 (29.7-84.5) |
| Chromosomal defects | ||||||||||
| Trisomy 21 (Down syndrome) | 97.0 (96.6-97.3) | 96.8 (95.9-97.5) | 97.8 (97.4-98.2) | 96.8 (94.8-98.0) | 99.1 (93.6-99.9) | 94.5 (94.0-95.0) | 91.5 (90.2-92.7) | 94.8 (94.2-95.4) | 92.8 (90.1-94.7) | 92.5 (85.6-96.2) |
Children with 2 or more birth defects may be counted in multiple categories.
Similar to infant survival, with the exception of spina bifida, pyloric stenosis, upper limb deficiencies, gastroschisis, and Down syndrome, there was 5% or greater variability in early childhood survival (<2 years) among the 3 major racial/ethnic groups; the survival probability among children born to NHB mothers was nearly universally lower than that among children born to NHW mothers, with the largest difference noted for transposition of the great arteries (Table IV). Compared with children of NHW mothers, the survival probability among children of A/PI and AI/AN mothers was substantially lower for encephalocele, common truncus, AVSD, hypoplastic left heart syndrome, and coarctation of the aorta.
Table IV.
Survival probabilities and 95% CIs for children with selected birth defects by survival age (<2 years, ≤8 years), birth defect category, and maternal race/ ethnicity based on pooled data from 10 state birth defects surveillance programs,* National Birth Defects Prevention Network, 1999-2005
| Early childhood survival probability (<2 y) |
Childhood survival probability (≤8 y) |
|||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Birth defects† | NHW | NHB | Hispanic | A/PI | AI/AN | NHW | NHB | Hispanic | A/PI | AI/AN |
| Central nervous system defects | ||||||||||
| Spina bifida without anencephalus | 91.1 (89.4-92.5) | 86.3 (82.1-89.5) | 91.6 (89.6-93.2) | 97.7 (84.9-99.7) | 92.9 (74.3-98.2) | 90.5 (88.8-91.9) | 85.7 (81.5-89.0) | 91.1 (89.0-92.7) | 97.7 (84.9-99.7) | 92.9 (74.3-98.2) |
| Encephalocele | 73.6 (67.8-78.5) | 77.3 (69.5-83.4) | 65.5 (58.5-71.6) | 45.5 (16.7-70.7) | 30.0 (7.1-57.8) | 72.8 (67.0-77.8) | 76.6 (68.7-82.7) | 65.5 (58.5-71.6) | 45.5 (16.7-70.7) | 30.0 (7.1-57.8) |
| Congenital heart defects | ||||||||||
| Common truncus | 77.4 (72.8-81.4) | 69.3 (59.3-77.3) | 63.2 (55.6-69.9) | 71.4 (25.8-92.0) | 71.4 (25.8-92.0) | 76.4 (71.7-80.4) | 68.3 (58.3-76.4) | 63.2 (55.6-69.9) | 71.4 (25.8-92.0) | 57.1 (17.2-83.7) |
| Transposition of great arteries | 85.0 (83.2-86.6) | 70.3 (65.5-74.5) | 81.8 (79.0-84.2) | 82.6 (74.6-88.3) | 72.2 (45.6-87.4) | 84.2 (82.4-85.8) | 68.8 (64.0-73.1) | 80.9 (78.1-83.4) | 79.3 (71.0-85.5) | 72.2 (45.6-87.4) |
| Tetralogy of Fallot | 88.7 (87.3-90.0) | 81.9 (78.6-84.7) | 82.0 (79.3-84.4) | 83.7 (76.5-88.8) | 77.4 (58.4-88.5) | 87.8 (86.3-89.1) | 81.4 (78.1-84.3) | 81.5 (78.8-83.8) | 80.1 (72.6-85.8) | 77.4 (58.4-88.5) |
| AVSD | 83.3 (81.5-84.8) | 72.4 (68.6-75.8) | 71.3 (68.1-74.2) | 71.3 (61.0-79.3) | 61.1 (35.3-79.2) | 81.6 (79.8-83.2) | 71.2 (67.4-74.7) | 70.0 (66.7-73.0) | 69.1 (58.7-77.4) | 61.1 (35.3-79.2) |
| AVSD (without Down syndrome) | 74.9 (72.0-77.6) | 63.8 (58.5-68.7) | 62.1 (57.5-66.3) | 63.2 (49.3-74.2) | 54.5 (22.9-78.0) | 73.1 (70.1-75.8) | 62.6 (57.3-67.5) | 59.9 (55.3-64.2) | 59.6 (45.8-71.0) | 54.5 (22.9-78.0) |
| Aortic valve stenosis | 84.8 (82.6-86.7) | 77.3 (69.8-83.2) | 78.2 (74.3-81.5) | 88.4 (74.3-95.0) | 80.0 (50.0-93.1) | 83.9 (81.7-85.8) | 76.7 (69.0-82.6) | 76.8 (72.9-80.2) | 86.0 (71.6-93.5) | 80.0 (50.0-93.1) |
| Hypoplastic left heart syndrome | 56.1 (53.3-58.9) | 48.4 (43.1-53.5) | 48.8 (44.2-53.3) | 47.4 (31.0-62.1) | 30.0 (7.1-57.8) | 54.0 (51.1-56.8) | 45.8 (40.5-51.0) | 46.5 (41.9-50.9) | 42.1 (26.4-57.0) | 30.0 (7.1-57.8) |
| Coarctation of aorta | 84.7 (83.2-86.0) | 74.8 (70.9-78.3) | 82.0 (79.6-84.0) | 79.4 (70.5-85.9) | 72.2 (54.5-84.0) | 84.0 (82.5-85.3) | 74.1 (70.1-77.6) | 80.8 (78.4-82.9) | 78.5 (69.5-85.2) | 72.2 (54.5-84.0) |
| Oral clefts | ||||||||||
| Cleft palate without cleft lip | 92.7 (91.7-93.6) | 87.5 (84.5-90.0) | 87.7 (85.8-89.4) | 90.8 (85.6-94.2) | 100 | 92.3 (91.3-93.2) | 87.0 (83.9-89.5) | 87.0 (85.0-88.7) | 90.8 (85.6-94.2) | 93.3 (80.7-97.8) |
| Cleft lip with or without cleft palate | 93.2 (92.4-93.9) | 84.9 (82.1-87.3) | 89.1 (87.8-90.3) | 94.6 (91.3-96.7) | 90.8 (84.7-94.5) | 92.8 (92.0-93.5) | 84.0 (81.1-86.4) | 88.6 (87.3-89.8) | 94.6 (91.3-96.7) | 90.8 (84.7-94.5) |
| Gastrointestinal defects | ||||||||||
| Esophageal atresia/tracheoesophageal fistula | 87.3 (85.3-89.0) | 75.0 (69.1-80.0) | 82.0 (78.5-85.0) | 82.6 (68.2-90.9) | 84.2 (58.7-94.6) | 86.7 (84.8-88.5) | 73.8 (67.8-78.8) | 81.5 (77.9-84.5) | 82.6 (68.2-90.9) | 84.2 (58.7-94.6) |
| Pyloric stenosis | 99.4 (99.3-99.6) | 99.4 (98.7-99.7) | 99.3 (99.0-99.5) | 100 | 99.0 (93.0-99.9) | 99.3 (99.2-99.5) | 99.4 (98.7-99.7) | 99.2 (98.9-99.4) | 100 | 99.0 (93.0-99.9) |
| Rectal and large intestinal atresia/stenosis | 90.4 (89.0-91.6) | 81.8 (78.0-84.9) | 82.2 (79.9-84.3) | 86.5 (79.7-91.2) | 85.0 (60.4-94.9) | 90.1 (88.7-91.3) | 81.1 (77.4-84.3) | 81.7 (79.3-83.8) | 85.8 (78.9-90.6) | 75.0 (50.0-88.7) |
| Musculoskeletal defects | ||||||||||
| Upper limb deficiencies | 90.6 (88.8-92.1) | 85.9 (81.8-89.1) | 86.6 (84.1-88.8) | 95.1 (85.5-98.4) | 84.6 (64.0-93.9) | 89.9 (88.1-91.4) | 85.6 (81.5-88.9) | 86.6 (84.1-88.8) | 95.1 (85.5-98.4) | 80.8 (59.8-91.5) |
| Lower limb deficiencies | 91.3 (88.9-93.2) | 89.8 (85.2-93.0) | 83.2 (79.1-86.6) | 90.0 (72.1-96.7) | 84.6 (51.2-95.9) | 91.0 (88.6-92.9) | 88.9 (84.2-92.3) | 82.9 (78.8-86.4) | 90.0 (72.1-96.7) | 76.9 (44.2-91.9) |
| Diaphragmatic hernia | 70.2 (67.4-72.9) | 58.2 (52.3-63.6) | 69.8 (66.1-73.1) | 71.8 (59.8-80.8) | 62.5 (40.3-78.4) | 70.2 (67.4-72.8) | 57.2 (51.3-62.6) | 69.8 (66.1-73.1) | 70.4 (58.3-79.6) | 62.5 (40.3-78.4) |
| Gastroschisis | 92.7 (91.0-94.1) | 89.9 (84.6-93.4) | 92.7 (90.8-94.2) | 90.5 (76.6-96.3) | 89.5 (74.3-95.9) | 92.5 (90.8-93.9) | 89.9 (84.6-93.4) | 92.4 (90.5-94.0) | 90.5 (76.6-96.3) | 89.5 (74.3-95.9) |
| Omphalocele | 73.2 (68.6-77.2) | 75.4 (67.0-81.9) | 67.2 (61.2-72.5) | 76.2 (51.9-89.3) | 83.3 (27.3-97.5) | 73.2 (68.6-77.2) | 75.4 (67.0-81.9) | 66.4 (60.4-71.7) | 76.2 (51.9-89.3) | 83.3 (27.3-97.5) |
| Chromosomal defects | ||||||||||
| Trisomy 21 (Down syndrome) | 93.9 (93.3-94.5) | 90.6 (88.8-92.0) | 94.1 (93.2-94.8) | 92.0 (88.4-94.4) | 89.7 (80.5-94.7) | 93.2 (92.5-93.8) | 89.8 (88.0-91.3) | 93.7 (92.8-94.5) | 91.3 (87.7-93.9) | 89.7 (80.5-94.7) |
Illinois and Nebraska were excluded from these analyses because vital status data beyond infancy were not available.
Children with 2 or more birth defects may be counted in multiple categories.
Results from multivariable analysis (Table V) showed that, compared with children of NHW mothers, the overall childhood (≤8 years) mortality risk was significantly greater among children born to NHB mothers for 12 of 21 defects (HR 1.3-2.0), children born to Hispanic mothers for 8 defects (HR 1.3-1.6), children born to A/PI mothers for 4 defects (HR 1.6-2.6), and children born to AI/AN mothers for only 1 defect, encephalocele (HR 2.8). However, a significantly decreased overall mortality risk was found among children born to A/PI mothers for cleft lip with or without cleft palate (HR 0.6). Among children of A/PI mothers, a significantly increased mortality risk was found for hypoplastic left heart syndrome (HR 1.6) during the neonatal period and for transposition of great arteries (HR 3.6) and tetralogy of Fallot (HR 2.4) during early childhood (1-8 years); a significantly decreased neonatal mortality risk was found for cleft lip with or without cleft palate (HR 0.5), compared with children born to NHW mothers.
Table V.
Adjusted* HRs for children with selected birth defects by survival age, birth defect category and maternal race/ethnicity based on pooled data from 12 state birth defects surveillance programs, National Birth Defects Prevention Network, 1999-2007
| Neonatal period (<28 d)‡ |
Postneonatal infancy period (28 d to <1 y)‡ |
Childhood (1 to ≤8 y)§ |
Overall childhood (≤8 y)§ |
|||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Birth defects† | NHB | Hispanic | A/PI | AI/AN | NHB | Hispanic | A/PI | AI/AN | NHB | Hispanic | A/PI | AI/AN | NHB | Hispanic | A/PI | AI/AN |
| Central nervous system defects | ||||||||||||||||
| Spina bifida without anencephalus | 0.9 | 0.8 | 0.2 | 0.8 | 1.6 | 1.2 | 0.0 | 1.2 | 3.4¶ | 0.9 | 0.0 | 0.0 | 1.3 | 1.0 | 0.2 | 0.7 |
| Encephalocele | 0.7 | 1.2 | 1.7 | 1.9 | 1.2 | 2.0 | 0.0 | 4.8¶ | 1.0 | 0.7 | 0.0 | 0.0 | 0.7 | 1.3 | 2.6¶ | 2.8¶ |
| Congenital heart defects | ||||||||||||||||
| Common truncus | 1.5 | 1.7¶ | 0.9 | 3.3 | 1.4 | 1.2 | 1.5 | 0.0 | 1.3 | 0.7 | 0.0 | 19.7¶ | 1.2 | 1.6¶ | 1.1 | 2.0 |
| Transposition of great arteries | 1.0 | 0.9 | 0.8 | 1.0 | 2.1¶ | 1.5¶ | 1.1 | 2.3 | 2.6¶ | 1.4 | 3.6¶ | 3.8 | 1.6¶ | 1.2 | 1.3 | 1.5 |
| Tetralogy of Fallot | 1.0 | 1.1 | 1.1 | 1.3 | 1.8¶ | 1.7¶ | 1.2 | 1.4 | 1.2 | 1.1 | 2.4¶ | 1.1 | 1.4¶ | 1.4¶ | 1.6¶ | 1.3 |
| AVSD | 1.2 | 1.2 | 1.6 | 0.4 | 1.6¶ | 1.7¶ | 1.6 | 3.5¶ | 1.5 | 1.4 | 2.1 | 0.0 | 1.5¶ | 1.5¶ | 1.8¶ | 1.8 |
| AVSD (without Down syndrome) | 1.0 | 1.0 | 1.5 | 0.4 | 1.3¶ | 1.6¶ | 1.4 | 2.4 | 1.3 | 1.5 | 2.1 | 0.0 | 1.3¶ | 1.3¶ | 1.6¶ | 1.5 |
| Aortic valve stenosis | 1.5 | 1.1 | 0.2 | 0.3 | 1.2 | 1.3 | 0.8 | 2.1 | 3.3¶ | 2.0 | 2.0 | 0.0 | 1.5¶ | 1.3 | 0.7 | 0.8 |
| Hypoplastic left heart syndrome | 0.9 | 1.0 | 1.6¶ | 1.3 | 1.3¶ | 1.3¶ | 0.8 | 1.3 | 2.0¶ | 1.3 | 2.8 | 0.0 | 1.1 | 1.1 | 1.4 | 1.6 |
| Coarctation of aorta | 1.3 | 0.9 | 1.4 | 0.9 | 1.8¶ | 1.2 | 1.2 | 2.0 | 2.3¶ | 1.6 | 1.4 | 1.7 | 1.5¶ | 1.1 | 1.3 | 1.3 |
| Oral clefts | ||||||||||||||||
| Cleft palate without cleft lip | 1.2 | 1.4¶ | 1.0 | 0.3 | 1.9¶ | 1.7¶ | 1.0 | 0.8 | 0.6 | 1.4 | 0.0 | 2.8 | 1.4¶ | 1.4¶ | 1.1 | 0.5 |
| Cleft lip with or without cleft palate | 1.2 | 1.2¶ | 0.5¶ | 1.2 | 2.4¶ | 1.5¶ | 1.0 | 0.6 | 1.7 | 1.2 | 0.4 | 2.1 | 1.3¶ | 1.3¶ | 0.6¶ | 1.1 |
| Gastrointestinal defects | ||||||||||||||||
| Esophageal atresia/tracheoesophageal fistula | 1.9¶ | 1.6¶ | 1.6 | 0.5 | 2.8¶ | 1.5 | 1.1 | 0.9 | 1.2 | 0.7 | 0.0 | 3.4 | 2.0¶ | 1.4¶ | 1.3 | 1.2 |
| Pyloric stenosis | 1.7 | 1.1 | 0.0 | 0.0 | 1.2 | 1.3 | 0.0 | 3.6 | 0.0 | 0.8 | 0.0 | 0.0 | 1.0 | 1.4 | 0.0 | 1.2 |
| Rectal and large intestinal atresia/stenosis | 1.1 | 1.3¶ | 1.4 | 1.2 | 1.6¶ | 1.5¶ | 0.3 | 0.0 | 1.9 | 1.6 | 1.0 | 9.0¶ | 1.4¶ | 1.4¶ | 1.2 | 1.5 |
| Musculoskeletal defects | ||||||||||||||||
| Upper limb deficiencies | 1.0 | 1.1 | 0.4 | 1.2 | 2.1¶ | 1.7¶ | 2.3 | 0.0 | 0.9 | 0.9 | 0.0 | 3.7 | 1.1 | 1.1 | 0.5 | 1.5 |
| Lower limb deficiencies | 0.7 | 1.2 | 1.6 | 1.2 | 1.6 | 1.5 | 0.0 | 0.0 | 4.5¶ | 0.9 | 0.0 | 7.6 | 1.0 | 1.3 | 1.2 | 1.1 |
| Diaphragmatic hernia | 1.2 | 0.8¶ | 0.8 | 0.6 | 1.7¶ | 1.4¶ | 1.3 | 1.4 | 3.5¶ | 0.7 | 1.3 | 20.4¶ | 1.4¶ | 0.9 | 0.8 | 0.8 |
| Gastroschisis | 1.5 | 0.9 | 0.9 | 2.3 | 1.2 | 1.1 | 1.7 | 0.7 | 1.4 | 1.5 | 0.0 | 0.0 | 1.2 | 1.1 | 1.2 | 1.7 |
| Omphalocele | 1.0 | 1.0 | 0.8 | 0.8 | 1.1 | 1.5 | 2.0 | 4.1 | 1.0 | 1.6 | 0.0 | 0.0 | 0.9 | 1.1 | 0.7 | 0.8 |
| Chromosomal defects | ||||||||||||||||
| Trisomy 21 (Down syndrome) | 1.0 | 0.8 | 0.9 | 0.3 | 1.9¶ | 1.2 | 1.5 | 2.5¶ | 1.9¶ | 0.8 | 1.4 | 0.8 | 1.4¶ | 1.0 | 1.1 | 1.4 |
Adjusted for: birth weight and gestational age, maternal age, birth period, and state surveillance program; NHW was used as the reference group.
Children with 2 or more birth defects may be counted in multiple categories.
Children born in 1999-2007 from all 12 states.
Children born in 1999-2005 from 10 states; data from Illinois and Nebraska were excluded because no vital status data beyond infancy were available.
Statistically significant; P < .05.
Discussion
For most of the major birth defects included in this study, we found maternal racial/ethnic differences in survival and mortality risk for all survival age groups examined. These findings are consistent with previous studies in which the authors used data from a single birth defects surveillance program.14,25,27-29 Black-white disparities in mortality risk consistently were observed across birth defect types during the postneonatal infancy period and continued to widen in childhood for some of the more severe congenital heart defects. Racial and ethnic disparities in health often represent potential prevention opportunities, and this pattern of changing racial/ethnic disparities across early childhood for these complex conditions suggests specific age periods that could be amenable to health services and policy interventions that address improved access to and delivery of quality and timely care.
Using the same birth cohort as we did in the current study, others previously have reported racial/ethnic disparities in prevalence for several major birth defects.30 Significantly greater risks in both overall childhood prevalence as well as increased mortality were found among children of NHB mothers for tetralogy of Fallot and AVSD and among children of AI/AN mothers for encephalocele, compared with children of NHW mothers.
Our study found that children who had AVSD without co-occurring Down syndrome had poorer childhood survival compared with children with both AVSD and Down syndrome across all racial/ethnic groups. Previous studies32-34 have shown that children with AVSD with a normal chromosome complement had a statistically greater risk of requiring reoperation than did children with AVSD and Down syndrome. However, a recent study did not find a difference in survival between the 2 groups.20 There is a possibility that a greater proportion of infants with both AVSD and co-occurring Down syndrome are diagnosed prenatally compared with infants with AVSD alone.
This study was subject to several limitations. There was a potential for incomplete ascertainment of deaths possibly from missed matches of the study cohort to state death certificate files or underascertainment of out of state deaths. By potentially missing these deaths, we may have overestimated the survival probabilities. However, overall ascertainment of deaths for the 2 states that used NDI for vital status determination was not appreciably different from that of the other states.
Another limitation was the potential misclassification of birth defect diagnoses for cases obtained from the birth defects surveillance programs that rely exclusively on case reporting by physicians and hospitals (passive case ascertainment). Seven of the 12 participating programs use a passive case-finding methodology, and 4 of these 7 programs validate the accuracy of the birth defect case diagnosis through active case follow-up. The 3 programs with no case-verification protocol in place would be the most susceptible to misclassification. Sensitivity analyses showed that the estimated survival probabilities using data from all 12 surveillance programs were 3%-10% greater for 4 of the 21 defects compared with the estimated survival probabilities excluding the 3 passive surveillance programs (data not shown). The overestimate of survival for the 4 defects could be attributable to underascertainment of deaths or misclassification of noncases as cases (more likely for congenital heart defects than for encephalocele).
Additional limitations include: (1) wide 95% CIs associated with the estimated survival probabilities for several defects among A/PI and AI/AN subgroups attributable to small sample sizes; and (2) lack of data on potentially important clinical factors (eg, timing and age of the child at initial diagnosis, the severity of the defect, and whether the child had isolated or nonisolated defects), demographic factors (eg, socioeconomic status13 and health insurance payer29) and hospital factors (eg, nursery care level at the hospital of delivery35) that are also likely to play a role. Considering these limitations and the descriptive nature of the analysis, the survival estimates presented here should be interpreted cautiously.
Despite these limitations, the survival analyses reported in this study are based on an unprecedented dataset. Pooling data from 12 birth defects surveillance programs, all of which linked their surveillance data to vital records data enabled the assembly of the largest population-based cohort of US infants with birth defects for whom survival up to age eight years could be calculated. The defect-specific sample sizes allowed for relatively precise survival estimates for most birth defects subtypes. These data also provided an opportunity to examine up to 8-year survival among less common racial/ethnic groups (ie, A/PI and AI/AN) and for selected defects among NHBs and Hispanics for which no previous survival data were available. Future investigations should focus on mortality outcomes associated with surgical intervention, co-occurring conditions requiring hospitalization or outpatient procedures, and complexity of case presentation for children with specific birth defects.
Glossary
- A/PI
Asian/Pacific Islander
- AI/AN
American Indian/Alaska Native
- AVSD
Atrioventricular septal defect
- HR
Hazard ratio
- NDI
National Death Index
- NHB
Non-Hispanic black
- NHW
Non-Hispanic white
Appendix
Centers that included data for the National Birth Defects Prevention Network include:
Arizona Birth Defects Monitoring Program, Metropolitan Atlanta Congenital Defects Program, Colorado Responds to Children with Special Needs, Florida Birth Defects Registry, Illinois Adverse Pregnancy Outcomes Reporting System, Massachusetts Birth Defects Monitoring Program, Michigan Birth Defects Registry, Nebraska Birth Defects Registry, New Jersey Special Child Health Services Registry, New York State Congenital Malformations Registry, North Carolina Birth Defects Monitoring Program, and Texas Birth Defects Epidemiology, and Surveillance Branch.
Footnotes
The findings and conclusion in this report are those of the authors and do not necessarily represent the official position of the Centers for Disease Control and Prevention. The authors declare no conflict of interest.
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