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Newborn bloodspot screening (NBS) is freely and universally available to babies born in Australia, with nearly 300 000 newborns screened each year. The NBS programme screens for approximately 30 conditions; however, there are hundreds of childhood conditions that could be treated if identified earlier and asymptomatically. Contemporary screening platforms have relied on mass spectrometry-based technologies, limiting surveillance to conditions with validated biomarkers detectable within the neonatal period. Advancements in metabolic techniques and genomics have expanded the range of conditions that could be detected. The NewbornsInSA research study will develop, validate and evaluate a novel multi-omic model of newborn screening, integrating metabolomic and genomic newborn screening as complementary methodologies.
Parents can opt in to additional NBS through NewbornsInSA during pregnancy or shortly after birth. One thousand prospectively recruited families will be offered genomic NBS by whole-genome sequencing, including analysis of a virtual gene panel of over 600 genes, and concurrent metabolomic screening. Clinically actionable pathogenic or likely pathogenic genetic variants will be reported to parents and whole genome sequencing data will be available on request for diagnostic reanalysis, if required later in life.
Acceptability of the NewbornsInSA programme will be evaluated through stakeholder engagement activities with healthcare professionals, members of the public and patient advocacy groups. Family experiences will be assessed using online surveys. The diagnostic yield, accuracy and the costs and consequences of the multi-omic NBS model will be assessed by comparison to standard-of-care NBS.
NewbornsInSA will investigate the acceptability, feasibility and cost-effectiveness of a multi-omic newborn screening model in a prospectively recruited South Australian population. We hypothesise that this approach will increase the number of conditions identified, reduce the time to diagnosis and facilitate earlier care with better outcomes for newborns with genetic conditions.
This research study has been ethically approved by the Women’s and Children’s Health Network Human Research Ethics Committee (2022/HRE00258 and 2023/HRE00236). Findings will be disseminated through peer-reviewed publication and conferences.
by Anastasia Topalidou, Lauren Haworth, Raeesa Jassat, Morgan Hawcroft-Hurst
Pregnancy and childbirth involve profound biomechanical transformations, adaptations, and functional demands on the maternal body. Although biomechanical complications have been identified as a major contributor to maternal morbidity and mortality, this remains one of the most under-researched areas in perinatal health. This systematic scoping review aimed to map and synthesise existing literature on the biomechanics of pregnancy and labour. Following Arksey and O’Malley’s framework and PRISMA-ScR guidance, comprehensive searches of MEDLINE, EMBASE, and MIDIRS were conducted up to May 2025. Eligible sources were peer-reviewed empirical studies assessing musculoskeletal, kinematic, kinetic, postural, or dynamic parameters in pregnant or labouring women. Titles, abstracts, and full texts were screened against predefined eligibility criteria. Data were charted using a structured extraction form and synthesised narratively across key biomechanical themes. Eighty-seven studies were included, all of which focused on pregnancy. No studies conducted during labour were identified. Most were observational with small sample sizes and limited diversity. Ethnicity was reported in only one study. Four key themes emerged: (1) Posture and spinal curvature, (2) Gait and locomotor analysis, (3) Functional tasks and interventions, and (4) Balance and stability. Findings showed high individual variability and no consistent biomechanical pattern across pregnancy. Real-world, neuromuscular, and labour-related biomechanics remain largely unexplored. This review underscores a critical gap in perinatal research: while biomechanical adaptations during pregnancy have been increasingly studied, labour remains entirely unexamined from a biomechanical perspective. Current evidence is fragmented, methodologically narrow, and lacks diversity, offering limited clinical relevance. We are effectively operating in a biomechanical vacuum, without empirical data to guide safer, more efficient, and personalised birth practices. Existing clinical approaches rely heavily on tradition, anecdotal experience, and untested theoretical assumptions. Addressing this evidence void, particularly in labour biomechanics and ethnic representation, is essential to improve perinatal outcomes and support equity in maternal care.
To describe the outcomes of an e(electronic)-Delphi survey used to achieve consensus on the essential elements that should be included in a multidisciplinary, nurse-led service for patients with chronic heart failure (CHF).
The study design was based on a three-round e-Delphi survey.
A series of three survey rounds were used to gather expert opinions and achieve consensus on the key elements that should be included in a CHF disease management program from a sample of healthcare professionals and organizational leaders with expertise in existing CHF services. Consensus for each item was defined as at least 90% agreement.
There were 20 participants (18 healthcare professionals and 2 organizational leaders) in round-1, 22 (20 healthcare professionals and 2 organizational leaders) in round-2, and 17 (15 healthcare professionals and 2 organizational leaders) in round-3. Fifteen participants attended a final online meeting (13 healthcare professionals and 2 organizational leaders). Consensus was obtained on five essential components: (i) consumer education, (ii) treatment optimization using a multidisciplinary approach, (iii) discharge planning, (iv) provision of supportive community care and (v) mechanisms to respond to early symptoms of decompensated CHF.
Participants focused on mechanisms to improve treatment effectiveness, patient and family knowledge, communication between healthcare providers and supportive care in the community. The proposed model of care may be useful to other health service providers who are designing or adapting CHF models of care for the South-East Asian environment.
This research provides a solid basis for using a Delphi method to resolve the challenges and issues of transferring global model-based recommendations in CHF knowledge. The Delphi method proved successful as an important step in developing a culturally acceptable model of chronic care that meets the goals of local healthcare providers.
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