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.

Self-reported maternal smoking during pregnancy by source in Utah, 2003-2007.

BACKGROUND: Maternal self-report is the most common method for assessment of past cigarette exposure to assess birth defect risk. This study compared maternal smoking prior to and during pregnancy based on self-reports obtained from the medical records abstracted for the Utah Birth Defect Network (UBDN), the birth certificate, and the computer-assisted telephone interview (CATI) in the National Birth Defects Prevention Study (NBDPS). The study also investigated how the different sources for maternal smoking data affect estimates in an empirical study. METHODS: A total of 1774 case and 618 control mothers who had participated in the NBDPS and whose live born infants were delivered between January 1, 2003, and December 31, 2007, were included in this study. Among the case mothers, we compared data from all three sources, whereas for control mothers only two data sources were available for comparison (i.e., birth certificate and CATI). RESULTS: Smoking prevalence was highest in the CATI. Compared to the CATI, data from the UBDN had a higher sensitivity (61.3%) and better agreement (kappa = 0.63) than birth certificates (51.8%; kappa = 0.56). Adjusted odds ratios for all and specific birth defects (i.e., holoprosencephaly, hydrocephalus, anophthalmia/microphthalmia, anotia/microtia, total anomalous pulmonary venous return/partial anomalous pulmonary venous return [TAPVR/PAPVR], heterotaxy, and gastroschisis) were different between the birth certificate and CATI. The change in the effect estimates between the two sources ranged from 19% to 56%. CONCLUSIONS: Based on our findings, maternal smoking exposure from interview data was shown to be of higher quality with less misclassification compared to data obtained from medical records or birth certificates.

Analysis of skeletal dysplasias in the Utah population.

The Utah Birth Defect Network (UBDN) collects population-based data for Utah on births from all resident women. The prevalence of skeletal dysplasias and epidemiologic characteristics/outcomes were evaluated. Cases categorized as a skeletal dysplasia from all live births, stillbirths, and pregnancy terminations (TAB) between 1999 and 2008 were reviewed by three clinical geneticists. After case review, 153 were included for analysis (88% live births, 3% stillborn, 9% TAB), and categorized by groupings defined by molecular, biochemical, and/or radiographic criteria as outlined in the 2010 Nosology and Classification of Genetic Skeletal Disorders. The overall prevalence for skeletal dysplasias was 3.0 per 10,000 births, and 20.0 per 10,000 stillbirths. The most common diagnostic groups were osteogenesis imperfecta (OI; n = 40; 0.79 per 10,000), thanatophoric dysplasia (n = 22; 0.43 per 10,000), achondroplasia (n = 18; 0.35 per 10,000), and cleidocranial dysplasia (n = 6; 0.12 per 10,000). The most common groups based on the 2010 Nosology and Classification of Genetic Skeletal Disorders were the FGFR3 chondrodysplasia group (n = 41; 0.81 per 10,000), the OI/decreased bone density group (n = 40; 0.79 per 10,000), and the type 2 collagen group (n = 10; 0.2 per 10,000). Median age of postnatal diagnosis was 30 days (range 1-2,162). Of those deceased, 88% were prenatally suspected; of those alive 29% prenatally suspected. Median age of death for live born individuals was 1 day (range 1-1,450 days). Previously reported prevalence rates vary, but our data provide a population-based approach not limited to the perinatal/neonatal period. Understanding the range for survival within each group/diagnosis is beneficial for health care providers when counseling families.