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Sagittal craniosynostosis is the most common form of craniosynostosis, affecting approximately one in 5,000 newborns. We conducted, to our knowledge, the first genome-wide association study for nonsyndromic sagittal craniosynostosis (sNSC) using 130 non-Hispanic case-parent trios of European ancestry (NHW). We found robust associations in a 120-kb region downstream of BMP2 flanked by rs1884302 (P = 1.13 × 10(-14), odds ratio (OR) = 4.58) and rs6140226 (P = 3.40 × 10(-11), OR = 0.24) and within a 167-kb region of BBS9 between rs10262453 (P = 1.61 × 10(-10), OR = 0.19) and rs17724206 (P = 1.50 × 10(-8), OR = 0.22). We replicated the associations to both loci (rs1884302, P = 4.39 × 10(-31) and rs10262453, P = 3.50 × 10(-14)) in an independent NHW population of 172 unrelated probands with sNSC and 548 controls. Both BMP2 and BBS9 are genes with roles in skeletal development that warrant functional studies to further understand the etiology of sNSC.

Objectives We sought to examine whether there are systematic differences in ascertainment of preexisting maternal medical conditions and pregnancy complications from three common data sources used in epidemiologic research. Methods Diabetes mellitus, chronic hypertension, gestational diabetes mellitus (GDM), gestational hypertensive disorders (GHD), placental abruption and premature rupture of membranes (PROM) among 4821 pregnancies were identified via birth certificates, maternal self-report at approximately 4 months postpartum and by discharge codes from the Statewide Planning and Research Cooperative System (SPARCS), a mandatory New York State hospital reporting system. The kappa statistic (k) was estimated to ascertain beyond chance agreement of outcomes between birth certificates with either maternal self-report or SPARCS. Results GHD was under-ascertained on birth certificates (5.7 %) and more frequently indicated by maternal report (11 %) and discharge data (8.2 %). PROM was indicated more on birth certificates (7.4 %) than maternal report (4.5 %) or discharge data (5.7 %). Confirmation across data sources for some outcomes varied by maternal age, race/ethnicity, prenatal care utilization, preterm delivery, parity, mode of delivery, infant sex, use of infertility treatment and for multiple births. Agreement between maternal report and discharge data with birth certificates was generally poor (kappa < 0.4) to moderate (0.4 [less than or equal to] kappa < 0.75) but was excellent between discharge data and birth certificates for GDM among women who underwent infertility treatment (kappa = 0.79, 95 % CI 0.74, 0.85). Conclusions for Practice Prevalence and agreement of conditions varied across sources. Condition-specific variations in reporting should be considered when designing studies that investigate associations between preexisting maternal medical and pregnancy-related conditions with health outcomes over the life-course., Author(s): Candace A. Robledo [sup.1] , Edwina H. Yeung [sup.1] , Pauline Mendola [sup.1] , Rajeshwari Sundaram [sup.2] , Nansi S. Boghossian [sup.1] , Erin M. Bell [sup.3] [sup.4] , [...]

We describe patterns of dietary caffeine consumption before and after pregnancy recognition in a cohort of women who recently gave birth. This study included 8,347 mothers of non-malformed liveborn control infants who participated in the National Birth Defects Prevention Study during 1997-2007. Maternal self-reported consumption of beverages (caffeinated coffee, tea, and soda) and chocolate the year before pregnancy was used to estimate caffeine intake. The proportions of pre-pregnancy caffeine consumption stratified by maternal characteristics are reported. In addition, patterns of reported change in consumption before and after pregnancy were examined by maternal and pregnancy characteristics. Adjusted prevalence ratios were estimated to assess factors most associated with change in consumption. About 97% of mothers reported any caffeine consumption (average intake of 129.9 mg/day the year before pregnancy) and soda was the primary source of caffeine. The proportion of mothers reporting dietary caffeine intake of more than 300 mg/day was significantly increased among those who smoked cigarettes or drank alcohol. Most mothers stopped or decreased their caffeinated beverage consumption during pregnancy. Young maternal age and unintended pregnancy were associated with increases in consumption during pregnancy. Dietary caffeine consumption during pregnancy is still common in the US. A high level of caffeine intake was associated with known risk factors for adverse reproductive outcomes. Future studies may improve the maternal caffeine exposure assessment by acquiring additional information regarding the timing and amount of change in caffeine consumption after pregnancy recognition. Keywords Caffeine * Coffee * Tea * Soda * Pregnancy, Introduction Coffee, tea, soda, and chocolate are the main sources of caffeine consumption among pregnant women and the US population [1, 2]. In the late 1970s, about 74% of US [...]

Caffeine is consumed in various forms during pregnancy, has increased half-life during pregnancy and crosses the placental barrier. Small for gestational age (SGA) is an important perinatal outcome and has been associated with long term complications. We examined the association between maternal caffeine intake and SGA using National Birth Defects Prevention Study data. Nonmal-formed live born infants with an estimated date of delivery from 1997-2007 (n = 7, 943) were included in this analysis. Maternal caffeine exposure was examined as total caffeine intake and individual caffeinated beverage type (coffee, tea, and soda); sex-, race/ethnic-, and parity-specific growth curves were constructed to estimate SGA births. Crude and adjusted odds ratios (aORs) and 95% confidence intervals were estimated using unconditional logistic regression. Interaction with caffeine exposures was assessed for maternal smoking, vasoconstrictor medication use, and folic acid. Six hundred forty-eight infants (8.2%) were found to be SGA in this analysis. Increasing aORs were observed for increasing intakes of total caffeine and for each caffeinated beverage with aORs (adjusting for maternal education, high blood pressure, and smoking) ranging from 1.3 to 2.1 for the highest intake categories (300+ mg/day total caffeine and 3+ servings/day for each beverage type). Little indication of additive interaction by maternal smoking, vasoconstrictor medication use, or folic acid intake was observed. We observed an increase in SGA births for mothers with higher caffeine intake, particularly for those consuming 300+ mg of caffeine per day. Increased aORs were also observed for tea intake but were more attenuated for coffee and soda intake. Keywords Caffeine * Tea * Small for gestational age births * SGA * Growth curves, Introduction Worldwide, caffeine is ingested in a variety of forms, the most common being coffee, tea, soda, chocolate, and certain nonprescription drugs [1]. In the United States, average caffeine intake [...]

Objective. To determine the sensitivity, specificity, predictive value, and accuracy of a program of pulse oximetry screening of asymptomatic newborns for critical congenital cardiovascular malformation (CCVM). Methods. Pulse oximetry was performed on asymptomatic newborns in the well-infant nurseries of 2 hospitals. Cardiac ultrasound was performed on infants with positive screens (saturation [less than or equal to] 95% at >24 hours). Data regarding true and false positives as well as negatives were collected and analyzed. Results. Oximetry was performed on 11 281 asymptomatic newborns, and 3 cases of CCVM were detected (total anomalous pulmonary venous return x2, truncus arteriosus). During the study interval, there were 9 live births of infants with CCVM from a group of 15 fetuses with CCVM detected by fetal echocardiography. Six infants with CCVM were symptomatic before screening. There was 1 false-positive screen. Two infants with negative screens were readmitted (coarctation, hypoplastic left pulmonary artery with aorto-pulmonary collaterals). Other cardiac diagnoses in the database search were nonurgent, including cases of patent foramen ovale, peripheral pulmonic stenosis, and ventricular septal defect. The prevalence of critical CCVM among all live births was 1 in 564 and among the screened population was 1 in 2256 (sensitivity: 60%; specificity: 99.95%; positive predictive value: 75%; negative predictive value: 99.98%; accuracy: 99.97%). Conclusions. This screening test is simple, noninvasive, and inexpensive and can be administered in conjunction with state-mandated screening. The false-negative screen patients had lesions not amenable to detection by oximetry. The sensitivity, specificity, and predictive value in this population are satisfactory, indicating that screening should be applied to larger populations, particularly where lower rates of fetal detection result in increased CCVM prevalence in asymptomatic newborns. Pediatrics 2003;111:451-455; pulse, oximetry, screening, newborn, heart., ABBREVIATIONS. CCVM, congenital cardiovascular malformation; CMR, Congenital Malformations Registry. Congenital cardiovascular malformations (CCVMs) are relatively common with a prevalence of 5 to 10 in every 1000 live births. (1) In [...]

Across the US, many statewide population-based congenital malformations registries were established in the aftermath of the thalidomide tragedy of the 1960s. (1-8) The New York State Congenital Malformations Registry (NYCMR) […]