Orofacial Clefting and Associated Neural Tube Defects: Bronx Hospital Setting

Background: Birth defects, including orofacial clefting (OC) and neural tube defects (NTD), are the leading cause of death during the first year of life. OC alone are among the most common congenital facial defects, and include isolated cleft lip, cleft palate, and coupled cleft lip and palate.

Objectives: To assess the differences in prevalence of OC with and without NTD by race/ethnicity from a large minority clinic population in the Bronx, NY.

Methods: Using a proprietary electronic medical record system, we queried all instances of OC and NTD at Montefiore Medical Center from 1997-2010 using ICD-9-CM codes 749.0-2, 741 and 742, respectively. Gender, race/ethnicity, and date of birth were collected, and the prevalence rates of OC with and without associated NTD were calculated per 1,000 live births for each demographic group over the same period, and compared using chi-square tests. Statewide prevalence rates reported for the same period are also being collected from the NYS Department of Health’s Congenital Malformation Registry.

Results: 83 cases of OC were identified between 1997 and 2010 (a prevalence of 1.3 per 1000 live births), of which 15 (18%) had associated NTD. Comparing OC rates alone by race and ethnicity, there was a significant difference in prevalence among Non-Hispanic Whites (1.1, n=10) vs. Non-Hispanic Blacks (0.3, n=8, p=0.006), but not with Hispanics (0.6, n=17, p=0.117). Occurrences of OC with associated NTD were reported only for Hispanics (0.5 per 1000 births, n=13). Prevalence rates (per 1000 births) in boys and girls were 1.0 (n=32) and 1.2 (n=36, p=0.532) for OC without NTD, and 0.1 (n=2) and 0.4 (n=13, p=0.004) for OC with associated NTD.

Conclusion: A higher prevalence of Non-Hispanic Whites had OC without NTD whereas almost all cases of OC with NTD occurred among Hispanic infants, and more female births had OC with associated NTD.