Maternal Medicaid Recipient Status and Congenital Malformations among New York State Live Births in 2010.

BACKGROUND: Congenital malformations are a leading cause of infant mortality in the United States, and risk for some congenital malformations varies by socioeconomic status (SES). Medicaid provides health insurance for people with low income, and covers approximately half of all live births in the United States. Income level is one aspect of SES. Studies have shown relationships between SES and some congenital malformations. METHODS: This retrospective cohort study examined associations between maternal Medicaid recipient status and 46 congenital malformations in New York State for birth year 2010. The impact of Medicaid continuous enrollment (CE) status was evaluated in a sub-analysis of Medicaid recipients. Logistic regression was used to calculate adjusted odds ratios and 95% confidence intervals. RESULTS: The study cohort included 240,721 live births, 3778 infants with one or more congenital malformation of interest, and 118,631 maternal Medicaid recipients at the time of the infant's birth. Odds ratios for cleft lip with or without cleft palate and rectal atresia or stenosis were increased for Medicaid recipients compared with non-Medicaid recipients. However, odds ratios for cleft lip with or without cleft palate and rectal atresia or stenosis were decreased for CE compared with non-CE Medicaid recipients. CONCLUSION: Maternal Medicaid recipient status was associated with few of the 46 congenital malformations evaluated. However, some associations found were modified by CE in Medicaid. Birth Defects Research 109:1460-1470, 2017.© 2017 Wiley Periodicals, Inc.

Maternal autoimmune disease and birth defects in the National Birth Defects Prevention Study.

BACKGROUND: Little is known about the association between maternal autoimmune disease or its treatment and the risk of birth defects. We examined these associations using data from the National Birth Defects Prevention Study, a multi-site, population-based, case-control study. METHODS: Analyses included 25,116 case and 9897 unaffected control infants with estimated delivery dates between 1997 and 2009. Information on autoimmune disease, medication use, and other pregnancy exposures was collected by means of telephone interview. Adjusted odds ratios (ORs) and 95% confidence intervals (CIs) were estimated for birth defects with five or more exposed cases; crude ORs and exact 95% CIs were estimated for birth defects with three to four exposed cases. RESULTS: Autoimmune disease was reported by 373 mothers (279 case and 94 control mothers). The majority of birth defects evaluated were not associated with autoimmune disease; however, a statistically significant association between maternal autoimmune disease and encephalocele was observed (OR, 4.64; 95% CI, 1.95-11.04). Eighty-two mothers with autoimmune disease used an immune modifying/suppressing medication during pregnancy; this was associated with encephalocele (OR, 7.26; 95% CI, 1.37-24.61) and atrial septal defects (OR, 3.01; 95% CI, 1.16-7.80). CONCLUSION: Our findings suggest maternal autoimmune disease and treatment are not associated with the majority of birth defects, but may be associated with some defects, particularly encephalocele. Given the low prevalence of individual autoimmune diseases and the rare use of specific medications, we were unable to examine associations of specific autoimmune diseases and medications with birth defects. Other studies are needed to confirm these findings. Birth Defects Research (Part A) 106:950-962, 2016. © 2016 Wiley Periodicals, Inc.

Sex ratios among infants with birth defects, National Birth Defects Prevention Study, 1997-2009.

A small number of population-based studies have examined sex differences among infants with birth defects. This study presents estimates of sex ratio for both isolated cases and those with multiple congenital anomalies, as well as by race/ethnicity. Male-female sex ratios and their 95% confidence intervals were calculated for 25,952 clinically reviewed case infants included in the National Birth Defects Prevention Study (1997-2009), a large population-based case-control study of birth defects. The highest elevations in sex ratios (i.e., male preponderance) among isolated non-cardiac defects were for craniosynostosis (2.12), cleft lip with cleft palate (2.01), and cleft lip without cleft palate (1.78); the lowest sex ratios (female preponderance) were for choanal atresia (0.45), cloacal exstrophy (0.46), and holoprosencephaly (0.64). Among isolated cardiac defects, the highest sex ratios were for aortic stenosis (2.88), coarctation of the aorta (2.51), and d-transposition of the great arteries (2.34); the lowest were multiple ventricular septal defects (0.52), truncus arteriosus (0.63), and heterotaxia with congenital heart defect (0.64). Differences were observed by race/ethnicity for some but not for most types of birth defects. The sex differences we observed for specific defects, between those with isolated versus multiple defects, as well as by race/ethnicity, demonstrate patterns that may suggest etiology and improve classification.

Maternal periconceptional alcohol consumption and congenital limb deficiencies.

BACKGROUND: Women of childbearing age report high rates of alcohol consumption, which may result in alcohol exposure during early pregnancy. Epidemiological research on congenital limb deficiencies (LDs) and periconceptional exposure to alcohol is inconclusive. METHODS: Data from the National Birth Defects Prevention Study (NBDPS) were examined for associations between LDs and patterns of maternal periconceptional (1 month before conception through the first trimester) alcohol consumption among LD case (n = 906) and unaffected control (n = 8352) pregnancies with expected delivery dates from 10/1997 through 12/2007. Adjusted odds ratios (aORs) and 95% confidence intervals were estimated from unconditional logistic regression analysis for all LDs combined, specific LD subtypes (preaxial/terminal transverse), and LD anatomic groups (upper/lower limbs); interactions with folic acid (FA) supplementation were tested. RESULTS: When compared with nondrinkers, inverse associations were found between all LDs combined, preaxial, and upper LDs and any reported periconceptional alcohol consumption (aORs ranged from 0.56-0.83), drinking without binging (aORs: 0.53-0.75), and binge drinking (≥4 drinks/occasion) (aORs: 0.64-0.94); however, none of the binge drinking aORs were statistically significant. Stratification by alcohol type showed inverse associations between all LDs combined, preaxial, transverse, and upper and lower LDs for drinking without binging of wine only (aORs: 0.39-0.67) and between all LDs combined and upper LDs for drinking without binging of combinations of alcohol (aORs: 0.63-0.87). FA did not modify observed associations. CONCLUSION: Maternal periconceptional alcohol consumption did not emerge as a teratogen for selected LDs in the NBDPS. Future studies should evaluate additional rare LDs among more highly exposed populations.

Self-reported maternal cigarette smoke exposure during the periconceptional period and the risk for omphalocoele.

BACKGROUND: We investigated whether maternal exposure to cigarette smoke was associated with omphalocoele and whether periconceptional folic acid modified the association. METHODS: : We analysed data from the National Birth Defects Prevention Study on omphalocoele case (n = 301) and control (n = 8135) mothers for infants born from 1997 through 2007. Mothers who reported active smoking or exposure to second-hand smoke during the periconceptional period (1 month before conception to 3 months after) were considered exposed. Those who reported use of folic acid supplements during the same period were considered supplement users. Odds ratios and 95% confidence intervals were estimated using multivariable logistic regression adjusted for alcohol use, preconception body mass index, and race/ethnicity. RESULTS: One hundred fifteen (38.2%) case and 2592 (31.9%) control mothers reported exposure to cigarette smoke during the periconceptional period. Adjusted odds ratios [95% confidence intervals] were 1.19 [0.94, 1.53] for any smoke exposure, 0.87 [0.54, 1.40] for active smoking, 1.38 [1.00, 1.90] for second-hand smoke exposure, and 1.16 [0.80, 1.67] for both exposures combined. No dose-response relationship was observed. Folic acid-containing supplements did not reduce the risk for omphalocoele among women with active or second-hand smoke exposure. CONCLUSIONS: Self-reported active maternal smoking, with or without exposure to second-hand smoke, during the periconceptional period was not associated with omphalocoele. In contrast, there was a possible association with periconceptional exposure to second-hand smoke.

Registry data quality improvement by identifying discrepancies between assigned codes and text descriptions of birth defects.

INTRODUCTION: Birth defects surveillance programs support efforts to prevent and address population health. For 30 years, the New York State (NYS) Department of Health (DOH) Congenital Malformations Registry (CMR) has been receiving reports of children with birth defects diagnosed from birth to age 2 years as required by NYS DOH regulation. Our objective in this effort was to improve the accuracy of British Pediatric Association (BPA) codes assigned to case reports in the NYS CMR. METHODS: From 1998 forward, the International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9-CM) code and a text description for reported birth defects have been entered into the CMR database. Upon receipt, CMR staff use reported descriptions and ICD-9-CM codes to recode all birth defects into BPA codes to improve surveillance specificity. To improve CMR data completeness and accuracy for birth years 1998-2010, computer programming was used to identify possible mismatches between birth defect descriptions and BPA codes. First, descriptions were reviewed for text strings related to specific BPA codes, and common spellings, misspellings and abbreviations were identified. Next, 1998-2010 case reports were flagged if they had either the identified text strings or the related BPA codes but not both. All flagged records were reviewed manually by registry staff and necessary data corrections were made. This quality-control process was evaluated, overall and for 78 targeted birth defect groups, using frequency and percent. The number of records flagged for possible discrepancy between BPA codes and text strings, percent reviewed and percent corrected are presented. These findings helped us understand which BPA codes or birth defects required the most attention. RESULTS: A total of 164,726 records were scanned for discrepancies between BPA code and text strings related to 78 birth defects. Of the records scanned, approximately 10 percent were found to have discrepancies and were flagged for manual review and approximately 8 percent required correction. Among case records for the targeted birth defects, 24.8 percent were reviewed and 19 percent were corrected. Of the records reviewed, 76.8 percent were corrected. CONCLUSIONS: This approach to data quality improvement was effective in identifying and resolving inaccuracies in the NYS CMR. High quality data is valuable for monitoring birth defects trends, allowing interstate comparisons of specific defects, and supporting birth defects research. As a result, prevention efforts and policy decisions aimed at improving public health will be better informed.