Registry analysis supports different mechanisms for gastroschisis and omphalocele within shared developmental fields.

Nine thousand two hundred eighty abnormalities associated with 2,943 abdominal wall defects (AWD) encoded from 1999 to 2008 by the Texas Birth Defects Registry (TBDR) were classified and analyzed for mechanism, beginning with 1,831 gastroschisis cases, 774 (41%) with 2,368 associated anomalies (AA) and 814 of omphalocele, 727 (89%) with 4,092 AA. Typical AA profiles for Trisomy 18 (23% of omphalocele cases) and Beckwith-Wiedemann syndrome (15%) validated registry AA descriptors, chromosome disorders surprisingly accounting for 24% of known conditions with gastroschisis followed by expected amniotic band (ADAM) complex (23%) and amyoplasia/arthrogryposis (16%). Separation of known diagnoses, fetal-stillbirth cases, and transitional or secondary AA left 330 cases of gastroschisis with 594 AA (452 major, 142 minor) and 295 cases of omphalocele with 956 AA (683 major, 273 minor). Anomalies suggestive of vascular origin (intestinal atresias, amyoplasia, bands) were more frequent with gastroschisis and those of defective lateral folding (exstrophies, limb-body wall defects) with omphalocele. Most AA favoring omphalocele had parallel frequencies with gastroschisis, whether by system/region-for example, cardiac AA (10% of cases), contractures (4.7%), limb (3.7%), CNS (3.2%) for gastroschisis versus cardiac (35%), contractures (14%), digestive-excretory-trunk-axial (all ∼11%), CNS (9.9%) for omphalocele-or for particular minor/major AA-for example, micrognathia (0.72% versus 3.3%), spina bifida (0.59% versus 3.9%), anal atresia (0.73% versus 6.4%), two-vessel cord (0.22% versus 5.6%). Similar frequencies of many AA reflective of early patterning support common AWD origin within early developmental fields and reinforce the use of large birth defect numbers from suitably qualified registries to define anomaly mechanism as well as prevalence.

Gastroschisis prevalence in Texas 1999-2003.

BACKGROUND: The worldwide prevalence of gastroschisis is increasing. Maternal age, race/ethnicity, and place of residence have been associated with increased risk. METHODS: We obtained descriptive characteristics of mothers of infants with gastroschisis and mothers of all live births from the Texas Birth Defects Registry and Texas vital records for 1999-2003. We calculated prevalence, crude prevalence ratios, and prevalence ratios adjusted for maternal age, parity, education, race/ethnicity, and geographic entity (Mexican border proximity, urban/rural residence, health service region, and county). RESULTS: We observed 764 cases of gastroschisis among 1,827,317 live births, for a prevalence of 4.18 per 10,000 births (95% confidence interval 3.88-4.48). Prevalence increased during 1999-2003 (p for trend <0.02). Infants of young and nulliparous mothers were at greatest risk in crude analyses. Other characteristics associated with increased risk were 12 or fewer years of education, border residence, and Hispanic ethnicity. Black mothers were at lower risk. When adjusted for maternal age, race/ethnicity, education, parity, and residence, we found that border residence, educational level, and Hispanic race/ethnicity were no longer significant, but young mothers and nulliparous mothers remained at higher risk, and blacks at reduced risk. Differences in prevalence observed between regions and counties largely disappeared when adjusted for maternal factors. No significant difference between urban and rural residence was found. CONCLUSION: The prevalence of gastroschisis increased in Texas during 1999-2003. Black mothers were at lower risk, and Hispanic mothers were at no greater risk than whites. No differences were found between urban/rural or border/nonborder residents.

Anomalies associated with gastroschisis and omphalocele: analysis of 2825 cases from the Texas Birth Defects Registry.

BACKGROUND/PURPOSE: The increasing prevalence of abdominal wall defects prompted analysis of anomalies associated with gastroschisis and omphalocele in the Texas Birth Defects Registry (TDBR). METHODS: Cases of gastroschisis (ICD9 code 756.71), omphalocele (756.70), and/or unspecified anomalies of the abdominal wall (756.79) were obtained from the TDBR after IRB approval and analyzed using Microsoft Access© and Excel© databases. RESULTS: Analysis began with 2825 cases including 1831 of gastroschisis, 814 of omphalocele, and 180 of unspecified abdominal wall defects plus 9680 associated anomalies that were classified according to system. The overall prevalence of abdominal wall defects among 3,806,299 Texas births from 1999 to 2008 was 7.4 per 10,000 with 4.8 per 10,000 for gastroschisis and 2.1 for omphalocele. After excluding ambiguous cases (8.5% possibly misclassified), anomaly spectra were similar for the two AWD with musculoskeletal (limb contractures or defects), cardiovascular, gastrointestinal, urogenital, and central nervous system defects being most common. Of 1831 cases with gastroschisis, 594 (32%) had associated anomalies compared to 654 (80%) of 814 omphalocele cases. CONCLUSIONS: Gastroschisis as well as omphalocele has significant associated anomalies that are important to appreciate during pre- and postnatal management.