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Death in the fetal, perinatal, and early infant age-group has a multitude of causes, a proportion of which is presumed to be genetic. Defining a specific genetic aberration leading to the death is problematic at this young age, due to limited phenotype-genotype correlation inherent in the underdeveloped phenotype, the inability to assess certain phenotypic traits after death, and the problems of dealing with rare disorders. In this study, our aim was to increase the yield of identification of a defined genetic cause of an early death. Therefore, we employed whole genome sequencing and bioinformatic filtering techniques as a comprehensive, unbiased genetic investigation into 16 fetal, perinatal, and early infant deaths, which had undergone a full autopsy. A likely genetic cause was identified in two cases (in genes; COL2A1 and RYR1) and a speculative genetic cause in a further six cases (in genes: ARHGAP35, BBS7, CASZ1, CRIM1, DHCR7, HADHB, HAPLN3, HSPG2, MYO18B, and SRGAP2). This investigation indicates that whole genome sequencing is a significantly enabling technology when determining genetic causes of early death.

Accurate and consistent classification of causes and associated conditions for perinatal deaths is essential to inform strategies to reduce the five million which occur globally each year. With the majority of deaths occurring in low- and middle-income countries (LMICs), their needs must be prioritised. The aim of this paper is to review the classification of perinatal death, the contemporary classification systems including the World Health Organization's International Classification of Diseases - Perinatal Mortality (ICD-PM), and next steps. During the period from 2009 to 2014, a total of 81 new or modified classification systems were identified with the majority developed in high-income countries (HICs). Structure, definitions and rules and therefore data on causes vary widely and implementation is suboptimal. Whereas system testing is limited, none appears ideal. Several systems result in a high proportion of unexplained stillbirths, prompting HICs to use more detailed systems that require data unavailable in low-income countries. Some systems appear to perform well across these different settings. ICD-PM addresses some shortcomings of ICD-10 for perinatal deaths, but important limitations remain, especially for stillbirths. A global approach to classification is needed and seems feasible. The new ICD-PM system is an important step forward and improvements will be enhanced by wide-scale use and evaluation. Implementation requires national-level support and dedicated resources. Future research should focus on implementation strategies and evaluation methods, defining placental pathologies, and ways to engage parents in the process., (Copyright © 2017 Elsevier Ltd. All rights reserved.)

Background: Stillbirths and neonatal deaths are devastating events for both parents and clinicians and are global public health concerns. Careful clinical management after these deaths is required, including appropriate investigation and assessment to determine cause (s) to prevent future losses, and to improve bereavement care for families. An educational programme for health care professionals working in maternal and child health has been designed to address these needs according to the Perinatal Society of Australia and New Zealand Guideline for Perinatal Mortality: IMproving Perinatal mortality Review and Outcomes Via Education (IMPROVE). The programme has a major focus on stillbirth and is delivered as six interactive skills-based stations. We aimed to determine participants' pre- and post-programme knowledge of and confidence in the management of perinatal deaths, along with satisfaction with the programme. We also aimed to determine suitability for international use., Methods: The IMPROVE programme was delivered to health professionals in maternity hospitals in all seven Australian states and territories and modified for use internationally with piloting in Vietnam, Fiji, and the Netherlands (with the assistance of the International Stillbirth Alliance, ISA). Modifications were made to programme materials in consultation with local teams and included translation for the Vietnam programme. Participants completed pre- and post-programme evaluation questionnaires on knowledge and confidence on six key components of perinatal death management as well as a satisfaction questionnaire., Results: Over the period May 2012 to May 2015, 30 IMPROVE workshops were conducted, including 26 with 758 participants in Australia and four with 136 participants internationally. Evaluations showed a significant improvement between pre- and post-programme knowledge and confidence in all six stations and overall, and a high degree of satisfaction in all settings., Conclusions: The IMPROVE programme has been well received in Australia and in three different international settings and is now being made available through ISA. Future research is required to determine whether the immediate improvements in knowledge are sustained with less causes of death being classified as unknown, changes in clinical practice and improvement in parents' experiences with care. The suitability for this programme in low-income countries also needs to be established.

Background: Delayed reporting of decreased fetal movements (DFM) could represent a missed opportunity to prevent stillbirth. Mobile phone applications (apps) have the potential to improve maternal awareness and reporting of DFM and contribute to stillbirth prevention. Aims: To evaluate the effectiveness of the My Baby's Movements (MBM) app on late‐gestation stillbirth rates. Materials and Methods: The MBM trial evaluated a multifaceted fetal movements awareness package across 26 maternity services in Australia and New Zealand between 2016 and 2019. In this secondary analysis, generalised linear mixed models were used to compare rates of late‐gestation stillbirth, obstetric interventions, and neonatal outcomes between app users and non‐app users including calendar time, cluster, primiparity and other potential confounders as fixed effects, and hospital as a random effect. Results: Of 140 052 women included, app users comprised 9.8% (n = 13 780). The stillbirth rate was not significantly lower among app users (1.67/1000 vs 2.29/1000) (adjusted odds ratio (aOR) 0.79; 95% CI 0.51–1.23). App users were less likely to have a preterm birth (aOR 0.81; 0.75–0.88) or a composite adverse neonatal outcome (aOR 0.87; 0.81–0.93); however, they had higher rates of induction of labour (IOL) (aOR 1.27; 1.22–1.32) and early term birth (aOR 1.08; 1.04–1.12). Conclusions: The MBM app had low uptake and its use was not associated with stillbirth rates but was associated with some neonatal benefit, and higher rates of IOL and early term birth. Use and acceptability of tools designed to promote fetal movement awareness is an important knowledge gap. The implications of increased IOL and early term births warrant consideration in future studies. [ABSTRACT FROM AUTHOR]

Background: Stillbirth is a major public health problem that is slow to improve in Australia. Understanding the causes of stillbirth through appropriate investigation is the cornerstone of prevention and important for parents to understand why their baby died. Aim: The aim of this study is to assess compliance with the Perinatal Society of Australia and New Zealand (PSANZ) Perinatal Mortality Clinical Practice Guidelines (2009) for stillbirths. Methods: This is a prospective multi‐centred cohort study of stillbirths at participating hospitals (2013–2018). Data were recorded into a purpose‐built database. The frequency of the recommended core investigations was calculated, and χ2 test was performed for subgroup analyses by gestational age groups and timing of fetal death. A 70% compliance threshold was defined for investigations. The cause of death categories was provided according to PSANZ Perinatal Death Classification. Results: Among 697 reported total stillbirths, 562 (81%) were antepartum, and 101 (15%) were intrapartum. The most common cause of death categories were 'congenital abnormality' (12.5%), 'specific perinatal conditions' (12.2%) and 'unexplained antepartum death' (29%). According to 2009 guidelines, there were no stillbirths where all recommended investigations were performed (including or excluding autopsy). A compliance of 70% was observed for comprehensive history (82%), full blood count (94%), cytomegalovirus (71%), toxoplasmosis (70%), renal function (75%), liver function (79%), external examination (86%), post‐mortem examination (84%) and placental histopathology (92%). The overall autopsy rate was 52%. Conclusions: Compliance with recommended investigations for stillbirth was suboptimal, and many stillbirths remain unexplained. Education on the value of investigations for stillbirth is needed. Future studies should focus on understanding the yield and value of investigations and service delivery gaps that impact compliance. [ABSTRACT FROM AUTHOR]

The National Health and Medical Research Council (NHMRC) Centre of Research Excellence in Stillbirth and the Perinatal Society of Australia and New Zealand (PSANZ) have recently partnered in updating an important clinical practice guideline, Care of pregnant women with decreased fetal movements. This guideline offers 12 recommendations and a suggested care pathway, with the aim to improve the quality of care for women reporting decreased fetal movements through an evidence‐based approach. Adoption of the guideline by clinicians and maternity hospitals could result in earlier identification of higher‐risk pregnancies, improved perinatal health outcomes for women and their babies, and reduced stillbirth rates. [ABSTRACT FROM AUTHOR]

Aim The purpose of this study was to investigate neonatal outcome of dichorionic diamniotic twins born beyond 32 weeks' gestation according to mode of delivery at a major tertiary center in Australia. Methods This was a retrospective cohort study of women with dichorionic diamniotic twins delivering at ≥32 weeks' gestation at a large tertiary maternity center in Australia using data from a maternity database. Primary and secondary outcomes included mode of delivery, birthweight, stillbirth, Apgar score, neonatal unit admission, neonatal resuscitation, death and respiratory distress. Results Of 1261 women, 82.9% (1045/1261; 2090 babies) delivered at ≥32 weeks' gestation. The mode of delivery for these babies was as follows: normal vaginal delivery, 419 (20%); instrumental delivery, 179 (8.6%); emergency cesarean section, 658 (31.5%); and elective cesarean section, 834 (39.9%). Babies delivered by emergency cesarean section or instrumental vaginal delivery had worse outcome. In contrast, the lowest complications were seen in the uncomplicated vaginal delivery and elective cesarean section cohorts. Conclusions Neonatal outcome was worse for those delivering via emergency cesarean section or instrumental vaginal delivery compared with elective cesarean section or uncomplicated vaginal delivery. The rate of uncomplicated vaginal delivery, however, was low, with only 14.8% of women delivering both babies vaginally without any form of intervention. [ABSTRACT FROM AUTHOR]