Early detection of isolated severe congenital heart defects is associated with a lower threshold to terminate the pregnancy

Introduction: Early detection of isolated severe congenital heart defects (CHDs) allows extra time for chromosomal analysis and informed decision making, resulting in improved perinatal management and patient satisfaction. Therefore, the aim of this study was to assess the value of an additional first-trimester screening scan compared to only a second-trimester scan in fetuses diagnosed with isolated severe CHDs. Prenatal detection rate, time of prenatal diagnosis, and pregnancy outcome were evaluated in the Netherlands after implementation of a national screening program.Materials and methods: We performed a retrospective geographical cohort study and included 264 pre- and postnatally diagnosed isolated severe CHD cases between January 1, 2007, and December 31, 2015, in the Amsterdam region. Severe CHD was defined as potentially life threatening if intervention within the first year of life was required. Two groups were defined: those with a first- and second-trimester anomaly scan (group 1) and those with a second-trimester anomaly scan only (group 2). A first-trimester scan was defined as a scan between 11 + 0 and 13 + 6 weeks of gestation.Results: Overall, the prenatal detection rate for isolated severe CHDs was 65%; 63% were detected before 24 weeks of gestation (97% of all prenatally detected CHDs). Prenatal detection rate was 70.2% in the group with a first- and second-trimester scan (group 1) and 58% in the group with a second-trimester scan only (group 2) (p Conclusion: Prenatal detection rate of isolated severe CHDs and termination of pregnancy rate was higher in the group with both a first- and second-trimester scan. We found no differences between timing of terminations. The additional time after diagnosis allows for additional genetic testing and optimal counseling of expectant parents regarding prognosis and perinatal management, so that well-informed decisions can be made.</p

An integrated host-microbiome response to atrazine exposure mediates toxicity in Drosophila

The gut microbiome produces vitamins, nutrients, and neurotransmitters, and helps to modulate the host immune system-and also plays a major role in the metabolism of many exogenous compounds, including drugs and chemical toxicants. However, the extent to which specific microbial species or communities modulate hazard upon exposure to chemicals remains largely opaque. Focusing on the effects of collateral dietary exposure to the widely used herbicide atrazine, we applied integrated omics and phenotypic screening to assess the role of the gut microbiome in modulating host resilience in Drosophila melanogaster. Transcriptional and metabolic responses to these compounds are sex-specific and depend strongly on the presence of the commensal microbiome. Sequencing the genomes of all abundant microbes in the fly gut revealed an enzymatic pathway responsible for atrazine detoxification unique to Acetobacter tropicalis. We find that Acetobacter tropicalis alone, in gnotobiotic animals, is sufficient to rescue increased atrazine toxicity to wild-type, conventionally reared levels. This work points toward the derivation of biotic strategies to improve host resilience to environmental chemical exposures, and illustrates the power of integrative omics to identify pathways responsible for adverse health outcomes

Low uptake of the combined test in the Netherlands - which factors contribute?

Objective The aim of this study was to evaluate which of the following factors affect the uptake of the combined test (CT) in the Netherlands: women's socio-demographic background, attitude towards Down syndrome, attitude towards termination of pregnancy, counseling process, reimbursement policy, and knowledge on the aim of the CT. Methods Cross-sectional survey in the Northwest (NW) and the Northeast (NE) region of the Netherlands. Results Analyses were based on 820 questionnaires (73% response rate). Women from the NW region opted more often for the CT than women from the NE region (52.1% and 16.5%, respectively, p?<?0.001). Women of 36?years and older opted more often for the CT than younger women (59.4% and 28.2%, respectively, p?<?0.001). Women's socio-demographic background and their attitude towards Down syndrome and termination of pregnancy (TOP) had contributed independently on CT choice. Conclusion The uptake of the CT in this study is low. The main reason for the low uptake is the relatively positive attitude towards Down syndrome and a negative attitude towards TOP. Moreover, the perception of maternal age as strong predictor of Down syndrome risk and the inequality of access to care, due to the financial threshold for younger women, are likely to affect participation in screening. (c) 2012 John Wiley & Sons, Ltd