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Background: Several human studies suggested an association between maternal stressful life events and increased risk of neural tube defects (NTDs). All of these studies, however, are from the United States; little was known among populations in developing countries that have different social and economic status., Methods: We examined the association between occurrence of maternal severe stressful life events during the periconceptional period and risk of NTDs in a population-based case-control study in Shanxi Province, China. Participants included 631 NTD cases (285 with anencephaly, 297 with spina bifida, and 49 with encephalocele) and 862 normal controls born between 2002 and 2007. Exposure information was collected within 1 week after delivery. The multivariable logistic regression model was used to estimate the adjusted odds ratio (OR) and its 95% confidence interval (95% CI) controlling for potential confounding variables., Results: Occurrence of maternal severe stressful life events was associated with a crude OR of 6.3 (95% CI, 2.8-14.4) for NTDs. After adjustment for all potential variables, the adjusted OR for NTDs remain significant (adjusted OR, 4.2; 95% CI, 1.4-12.6), and stronger for anencephaly (adjusted OR, 4.4; 95% CI, 1.2-15.9) than for spina bifida (adjusted OR, 3.4; 95% CI, 0.9-12.7). Adjustment for lifestyle variables greatly reduced the risk by 32%. A significant difference was found for some lifestyle characteristics between women with and without severe life events., Conclusions: This study confirmed the association between maternal stress and risk of NTDs that has been consistently reported in the United States. The effect may be the combined results of maternal physiologic changes and lifestyle changes., (Copyright © 2013 Wiley Periodicals, Inc.)

Acardia is a severe, complex malformation of monozygotic twinning, but beyond clinical case series, very few epidemiologic data are available. The goals of this study were to assess the epidemiologic characteristics of acardia from birth defect registries in the International Clearinghouse for Birth Defects Surveillance and Research (Clearinghouse), and compare these findings to current literature. The study included 17 surveillance programs of the Clearinghouse representing 23 countries from North and South America, Europe, China, and Australia. Anonymized individual records with clinical and demographic data were reviewed centrally by clinical geneticists. A literature search was performed. A total of 164 cases of acardia were reported from an underlying cohort of 21.2 million births. Of these, 23% were elective pregnancy terminations. Rates did not vary significantly by maternal age. For many cases, information on pregnancy exposures and genetic testing was missing. However, these limited data did not suggest high rates of chronic illnesses (diabetes, seizure disorders) or lifestyle factors such as smoking. One case had trisomy 13. Major malformations were reported in 2.4% of co-twins. With some basic assumptions, the total prevalence of acardia was estimated at 1 in 50,000-70,000 births, and 1 in 200-280 monozygotic twins. In summary, acardia is a dramatic, probably underreported, and incompletely understood malformation. Studies on its epidemiology and etiology are challenging and still rare. An international collaboration of epidemiologists, clinicians, and geneticists is necessary to understand the etiology, pathogenesis, and occurrence of this severe malformation complex., (Copyright © 2011 Wiley Periodicals, Inc.)

411 cases of malformed babies in 1960-1985 were analyzed, giving an incidence of 6.8%. The clinical data and autopsy materials showed that the order of occurrence of malformation in various systems was: nervous system, face and neck, muscle, bone and digestive system. Autopsy rate was 37.4% in this series. The ratio of malformed male babies to female was 1.3 to 1. 46.5% of the mothers with malformed baby were at age of 25-29 years and 66.2% delivered at 37 to 41 weeks of gestation. 69.3% of mothers with malformed baby had gestational complications 11 times as high as those delivering normal neonate in the same period (P less than 0.01). Of them hydramnion, premature rupture of membranes, oligoamnios, neonatal asphyxia were obviously higher than those pregnancies with normal baby (P less than 0.01). There is mainly discussed the clinical value of autopsy and the preventive measures in decreasing birth of malformed babies.