Objective: (i) determine trends among birth defects, (ii) search for common risk factors related to occurrence of orofacial clefts, conal, truncal or midline birth defects.
Method: We looked at the population of live births and stillbirths at Montefiore Medical Center (MMC), using electronic health information tools: Clinical Looking Glass®, patented data mining software; and direct query of Electronic Medical Record (EMR) data.
Result: There were 78, 334 cases of live births and stillbirths in the time period between 1997 to 2012. We recorded 85 cases of neural tube defects using International Classification of Disease-9 (ICD-9) codes for anencephalus (740.0, 740.1, and 740.2), spina bifida (741.0 and 741.9) and encephalocele (742.0). We recorded 120 cases of cleft lip and palate (749.0, 749.1, and 749.2) that occurred since 1997. We identified an extremely large number of cases of patent ductus arteriosus(PDA) (ICD-9 code 747.0): 1163 within 78,334 births which gave an incidence of 14.8 per 1000 births (1.48%). PDA is nearly 100 times larger than the national average. The estimated incidence of PDA in US children born at term is between 0.02% and 0.006% of live births. We determined that it may not be possible to identify nutritional deficiencies or folate use from data mining or chart review alone. Nutritional status was not conclusively identified using slow fetal growth, malnutrition (ICD-9 764.0): none; or short gestation/low birth weight (ICD-9 765.0): none.
Conclusion: Improved understanding of causation: nutritional deficiencies, extrinsic perturbations (toxins), epigenomics, and the potential for synergistic genetic affect on birth outcomes may allow for prevention. Future studies should focus on common factors that may contribute to birth defect formation and prevention.