Socioeconomic inequalities in pregnancy outcome associated with Down syndrome: a population-based study.

OBJECTIVE: To investigate socioeconomic inequalities in outcome of pregnancy associated with Down syndrome (DS) compared with other congenital anomalies screened for during pregnancy. DESIGN AND SETTING: Retrospective population-based registry study (East Midlands & South Yorkshire in England). PARTICIPANTS: All registered cases of DS and nine selected congenital anomalies with poor prognostic outcome (the UK Fetal Anomaly Screening Programme (FASP)9) with an end of pregnancy date between 1 January 1998 and 31 December 2007. MAIN OUTCOME MEASURES: Poisson regression models were used to explore outcome measures, including socioeconomic variation in rates of anomaly; antenatal detection; pregnancy outcome; live birth incidence and neonatal mortality. Deprivation was measured using the Index of Multiple Deprivation 2004 at super output area level. RESULTS: There were 1151 cases of DS and 1572 cases of the nine severe anomalies combined. The overall rate of antenatal detection was 57% for DS, which decreased with increasing deprivation (rate ratio comparing the most deprived tenth with the least deprived: 0.76 (0.60 to 0.97)). Antenatal detection rates were considerably higher for FASP9 anomalies (86%), with no evidence of a trend with deprivation (0.99 95% CI (0.84 to 1.17)). The termination of pregnancy rate following antenatal diagnosis was higher for DS (86%) than the FASP9 anomalies (70%). Both groups showed wide socioeconomic variation in the termination of pregnancy rate (rate ratio: DS: 0.76 (0.58 to 0.99); FASP9 anomalies: 0.80 (0.65 to 0.97)). Consequently, socioeconomic inequalities in live birth and neonatal mortality rates associated with these anomalies arise that were not observed in utero. CONCLUSIONS: Socioeconomic inequalities exist in the antenatal detection of DS, and subsequent termination rates are much higher for DS than other anomalies. Termination rates for all anomalies are lower in more deprived areas leading to wide socioeconomic inequalities in live born infants with a congenital anomaly, particularly DS, and subsequent neonatal mortality

230th ENMC International Workshop:: Improving future assessment and research in IgM anti-MAG peripheral neuropathy: A consensus collaborative effort, Naarden, The Netherlands, 24–26 February 2017

The 230th European Neuromuscular Center (ENMC) international workshop occurred in Naarden, the Netherlands, from February 24th to 26th, 2017. The aims of the workshop were: 1) to create an IgM associated peripheral neuropathy study group and achieve consensus regarding the registration of patients with IgM associated peripheral neuropathy in a patient-based registry, 2) to improve future assessment of patients with IgM associated peripheral neuropathy from hematological markers to clinical trials, and 3) to discuss promising therapies for future clinical trials. Seventeen clinicians and researchers (sixteen neurologists and one hematologist) from nine countries (Belgium, Curaçao, France, Italy, the Netherlands, Spain, Switzerland, the United Kingdom, and the United States of America) were present. A patient with IgM associated peripheral neuropathy, a representative of the GBS/CIDP Foundation International, and a PhD student, who received support from the ENMC Young Scientist Program, also attended

Psychological and ethical issues in third party assisted conception and surrogate motherhood

The continuing increase in babies born via third party assisted conception (AC) and surrogate motherhood across the world shows the success of and medical and social demand for third party interventions in family building. However, with the increasing use of such interventions world-wide, commercialisation and commodification have proliferated. This in turn has led to inequality in access to AC services, in choice of third party input, and in questionable human rights and psychosocial welfare issues. Transitioning to parenthood using third party AC and surrogate motherhood, in addition to requiring equality in access, also demand accuracy of birth and genetic information. In the absence of accurate record keeping, continuing practices of anonymity, and marginalization of the contribution of donors and surrogates, psychological, social, health and ethical questions are raised for donors, recipients and potentially for (genetic, gestational) part, half and full offspring, siblings and others in the extended family such as grandparents

Twist is required for establishment of the mouse coronal suture

Cranial sutures are the growth centres of the skull, enabling expansion of the skull to accommodate rapid growth of the brain. Haploinsufficiency of the human TWIST gene function causes the craniosynostosis syndrome, Saethre–Chotzen syndrome (SCS), in which premature fusion of the coronal suture is a characteristic feature. Previous studies have indicated that Twist is expressed in the coronal suture during development, and therefore that it may play an important role in development and maintenance of the suture. The Twist-null mouse is lethal before the onset of osteogenesis, and the heterozygote exhibits coronal suture synostosis postnatally. In this study we investigated the function of Twist in the development of the mouse coronal suture, by inhibiting Twist synthesis using morpholino antisense oligonucleotides in calvarial organ culture. Decreased Twist production resulted in a narrow sutural space and fusion of bone domains within 48 h after the addition of the morpholino oligonucleotides. Proliferation activity in the sutural cells was decreased, and the expression of osteogenic marker genes such as Runx2 and Fgfr2 was up-regulated in the developing bone domain within 4 h. These results suggest that during establishment of the suture area, Twist is required for the regulation of sutural cell proliferation and osteoblast differentiation