Views and preferences of food-insecure pregnant women regarding food insecurity screening and support within routine antenatal care.

BACKGROUND: Food insecurity is a public health concern that has profound impact on physical and mental health, and on social well-being. Pregnancy is a period in which food insecurity is likely to be particularly deleterious, due to the serious impact on both mother and child. Food insecurity is not routinely screened in antenatal healthcare settings, and the preferences of pregnant women regarding food insecurity screening and support are poorly understood. This study aimed to determine the views and preferences of food-insecure pregnant women regarding food insecurity screening and support within antenatal healthcare. METHODS: This qualitative descriptive study used face-to-face semi-structured interviews, conducted in February and March 2023, to gain the views of purposively sampled food-insecure, pregnant women in Melbourne, Australia. Food insecurity was evidenced by an affirmative response to at least one of three assessment items in a screening questionnaire. Qualitative content analysis was conducted to summarise the views and preferences of women. RESULTS: Nineteen food-insecure pregnant women were interviewed. Three themes were identified: (1) acceptability of being screened for food insecurity, (2) concerns about the consequences of disclosure and (3) preferences regarding food insecurity screening and supportive strategies that could be offered within an antenatal healthcare setting. CONCLUSION: Women were accepting of food insecurity screening being conducted within routine healthcare. Women identified potential benefits of routine screening, such as feeling supported by their clinician to have a healthy pregnancy and less pressure to voluntarily ask for food assistance. Women gave suggestions for the implementation of food insecurity screening to optimise their healthcare experience, maintain their dignity and feel able to disclose within a safe and caring environment. These results indicate that food insecurity screening in the antenatal setting is likely to have support from pregnant women and is urgently needed in the interest of promoting optimal nutrition for women and children. PATIENT CONTRIBUTION: Pregnant women with lived experience of food insecurity were purposively sampled to obtain their insights regarding screening and support within a pregnancy healthcare setting. Member-checking occurred following data collection, whereby all participants were offered the opportunity to review their interview transcript to ensure trustworthiness of the data.

Antenatal healthcare providers' knowledge, attitudes and practices regarding food insecurity in pregnancy: A qualitative investigation based at a specialist antenatal hospital in Melbourne, Australia.

BACKGROUND: Food insecurity exists when accessibility and availability of nutritious food is restricted, increasing the risk of adverse health outcomes. Pregnant women are especially vulnerable to food insecurity, which is concerning as optimal nutrition to support both their own health and the health and growth of their unborn child is critical. Antenatal healthcare providers (AHPs) are central to provision of pregnancy care. We aimed to assess AHPs' knowledge, attitudes and management of food insecurity. METHODS: Semi-structured interviews were conducted face-to-face, via telephone or online via Webex with 16 AHPs at the Royal Women's Hospital located in Melbourne, Australia. Interviews were thematically analysed according to Charmaz's constructivist grounded theory approach to ascertain AHPs' knowledge, attitudes and practices regarding food insecurity during pregnancy. RESULTS: AHPs had limited knowledge and awareness of food insecurity in pregnancy. Lack of experience in managing food insecurity and time constraints limit their capacity to support and deliver care to food-insecure women. There was a reported lack of structure and clarity surrounding referral pathways for effective management of food insecurity during pregnancy, as well as a lack of clarity regarding practitioner responsibility in managing this issue. CONCLUSIONS: Current assessment and management of food insecurity during pregnancy in the antenatal setting is suboptimal. Professional development strategies targeted to AHPs are urgently needed to assist optimal care of women who are food insecure during pregnancy to assist with supporting best maternal and child health.

Cross-cultural food practices and nutrition seeking behaviors among pregnant and postpartum Indian women living in Australia.

No research has explored the experiences of Indian women who become pregnant after they migrate to Australia, and how their existing traditions mix with their new environment and subsequently impact eating patterns. Semi-structured interviews were conducted with eleven women of Indian heritage who were living in Australia, and data were thematically analyzed. The researchers identified two main themes were identified (a) foods to eat and which to avoid, and (b) support networks and sources of health information during pregnancy. Women get advice and information from a range of sources and have diverse attitudes and beliefs about cultural food practices. that are both rigid and flexible, as well as traditional and contemporary.

Investigating the impact of COVID-19 on international student wellbeing in Australia.

ISSUE ADDRESSED: International students are at a heightened risk of experiencing negative health and wellbeing outcomes, which was further exacerbated during the COVID-19 lockdowns. This research sought to explore the impact of the COVID-19 pandemic on the health and wellbeing of international students in Australia. METHODS: Thirty-one international students participated in qualitative in-depth interviews between March and April 2022 to explore their experiences of health and wellbeing during 2020-2021 while they lived and studied in Australia. Interviews were coded and analysed thematically using NVivo software. RESULTS: Findings highlight the impact of the pandemic on international students' mental, social and financial wellbeing, including worry about loved ones, social isolation, financial and employment insecurity and challenges related to online learning. The pandemic exacerbated and brought more attention to existing issues and placed students in unequal positions in relation to domestic students and each other. CONCLUSIONS: The COVID-19 pandemic has increased students' vulnerability to poor mental health and to a range of social and financial issues. SO WHAT?: The findings of this study highlight the need for support strategies to improve international students' mental health and social wellbeing outcomes in Australia.

What's in a commercial meal kit? Structured review of Australian meal kits.

OBJECTIVE: The aim of this project is to review the products and recipes contained within popular subscription meal kits to determine if they are suitable for wider use among people who are food insecure. DESIGN: Across the 6-week period, weekly meal kits from both HelloFresh and Markey Spoon were purchased, resulting in thirty-six individual meals that were prepared and assessed. Meals were assessed based on the content included in the meal kit compared with the recipe card and the nutrition panel, the costs of the individual foods if purchased at one of two major supermarkets and the ease of preparation. SETTING: Australia. PARTICIPANTS: Households were comprised of two, 2-person households who were provided with 2 meals each week, and two, single-person households who were provided with one meal each week. RESULTS: The findings of this research suggest that while the meal kits are convenient and, in general, the recipes are easy to follow, and the meals would be made again, the high levels of salt and fat may preclude these kits from regular inclusion in a healthy diet. The meal kits were also found to be more costly than the same ingredients if purchased from a major supermarket. However, the convenience of having most of the foods needed to prepare a full meal with little to no wastage may counterbalance this cost. CONCLUSIONS: Meal kits may be a useful component of a healthy diet, that can increase meals prepared and consumed in the home, and thanks to the clear instructions and pre-portioned ingredients, may reduce stress related to food preparation.

How, why and for whom does a basic income contribute to health and wellbeing: a systematic review.

Ensuring that people have a sufficient income to meet their basic needs and that it keeps pace with costs of living are important when considering ways to reduce health inequities. Many have argued that providing a basic income is one way to do this. The aim of this review is to provide an overview of the existing peer reviewed evidence on the health and wellbeing impacts of basic income interventions. A systematic search of ten electronic databases was conducted in June 2022. Eligible publications examined any effect on health and wellbeing from unconditional cash transfers. All study designs were included, and no limitations were placed on duration of cash transfer trials, location of study, study population or on amount of money provided through the cash transfer. Ten studies were included in this review. Studies employed a range of methods. All studies reported on a trial of Universal Basic Income in either a region or a town. Studies explored a range of health and wellbeing related outcomes including crime, quality of life, employment, subjective wellbeing, tuberculosis and hospitalization. Basic income programs can mitigate poverty in a time of economic upheaval and have the potential to become a powerful policy tool to act upon the determinants of health and reduce health inequality. This review found a small number of trials indicating a positive impact on health and wellbeing. More trials which track recipients over a longer period are needed to provide more robust evidence for the impact of basic income programs.

Are mothers under lunchbox pressure? An exploration of the experiences of Victorian mothers preparing lunchboxes for their children.

ISSUE ADDRESSED: A healthy diet is particularly important during childhood. Research suggests that more than 95% of Australian primary school aged children do not eat a diet consistent with the Australian Dietary Guidelines, putting them at risk of poor health. Interventions to improve the quality of children's lunchboxes may help address this issue. However, there is limited understanding of the factors impacting lunchbox preparation. METHODS: This study explored the experiences of 10 mothers of Victorian primary school students. Mothers took part in semi-structured interviews exploring their views on lunchbox preparation and food choices. The study used a Constructivist Grounded Theory methodology and data were analysed using an inductive, thematic approach. RESULTS: Analysis of the interviews yielded four main themes. (i) Mothers experienced a range of non-nutritional barriers that impacted the food choices they made for their children. (ii) Children's preferences influenced parental food choices. (iii) Mothers experienced and/or perceived judgement about the food choices they make for their children. And (iv) Mothers identified a lack of support and information from schools about what was appropriate for school lunch. CONCLUSION: Findings of this study indicate that mothers are concerned with balancing nutrition and child preferences within the broader context of guidelines, perceived or real judgement and income constraints. SO WHAT?: The school environment may be an ideal setting to promote healthy eating but support for parents is needed. This is the first study in Victoria exploring mothers' perspectives on lunchbox preparation and provides initial information on which future research can build.

Consensus from an expert panel on how to identify and support food insecurity during pregnancy: A modified Delphi study.

BACKGROUND: Food insecurity and hunger during pregnancy have significant implications for the health of the mother and baby. Assisting clinicians when they encounter women who are experiencing hunger or food insecurity during their pregnancy will increase the opportunity for better birth and pregnancy outcomes. At present there are no guidelines for Australian clinicians on how to do this. METHODS: This study uses a modified Delphi technique, allowing diverse participation in the process, to create consensus on the ways to address and respond to food insecurity during pregnancy. This modified Delphi collected data via two rounds of consensus. The opinions collected from the first round were thematically categorised and grouped. The topics were integrated into the survey for the second round and circulated to participants. During the second round, priorities were scored by giving five points to the topic considered most important, and one point to the least important. RESULTS: Through two rounds of consultation, the panel achieved consensus on how to identify food insecurity during pregnancy, with some clear items of consensus related to interventions that could be implemented to address food insecurity during pregnancy. Experts achieved consensus on items that have importance at the institution and policy level, as well as services that exist in the community. The consensus across the spectrum of opportunities for assistance, from the clinical, to community-provided assistance, and on to government policy and practice demonstrate the complexity of this issue, and the multipronged approach that will be required to address it. CONCLUSION: This is the first time such a consultation with experts on hunger and food insecurity during pregnancy has been conducted in Australia. Items that achieved consensus and the importance of the issue suggest several ways forward when working with pregnant women who are hungry and/or food insecure.

Experiences of Food-Insecure Pregnant Women and Factors Influencing Their Food Choices.

INTRODUCTION: Food insecurity (FI), an inadequate access to healthy, affordable food, is a public health concern primarily driven by material hardship. Optimal antenatal nutrition promotes best health outcomes for the mother and baby. Pregnant women experiencing FI are less able to access healthy foods, increasing the risk of complications such as gestational diabetes and preterm labour. Little is known about the experiences of food-insecure pregnant women in obtaining sufficient, nutritious food, their perceptions regarding antenatal nutrition and how this contributes to their food choices. METHODS: This qualitative study conducted from August to November 2020, during the COVID-19 pandemic, examined the experiences and coping strategies of food-insecure pregnant women, and the factors influencing their food choices. Seven English-speaking food-insecure pregnant women participated in semi-structured interviews. Interview transcripts were thematically analysed, informed by grounded theory methodology. RESULTS: Three themes were identified through analysis of the interviews related to strategies that managed household food supply, factors that influenced food choices, and experiences of pregnancy during the COVID-19 pandemic. As a result of a limited food budget, pregnancy symptoms, the cognitive overload that attends the FI experience, and the acute yet significant impact of the pandemic, food-insecure pregnant women in this study defaulted to cheap and convenient food choices despite acknowledging the importance of eating well for pregnancy. CONCLUSION: FI during pregnancy is burdensome, relentless and undermines women's wellbeing. Supportive strategies within antenatal healthcare settings are urgently required to deliver an equitable health response for vulnerable women.

Pre-exposure prophylaxis (PrEP) in Australia: are there challenges facing sexual health promotion?

Pre-exposure prophylaxis (PrEP) for HIV refers to the daily use of antiretroviral medications by HIV uninfected persons to block a potential HIV infection. There is evidence to show that as the use of PrEP increases, the use of other safer sex practices such as condoms decreases, which may lead to an increase in sexually transmitted infections (STIs). This study aimed to explore whether PrEP had caused any challenges for organizations undertaking sexual health promotion activities in Australia. In-depth, semi-structured interviews were conducted with 17 participants (15 males, 2 females) who were purposively sampled from a range of HIV advocacy and health promotion settings. These included publicly funded HIV/AIDS councils and organizations representing people living with HIV/AIDS. Guided by an exploratory, inductive approach, the interviews were analyzed using thematic analysis. Three themes were constructed from the data analysis. First, organizations in different jurisdictions came to support PrEP in different ways, and this influenced the way organizations engaged with PrEP and the messaging that they disseminated to their community. Second, organizations faced some barriers to promoting PrEP, with the most significant being overcoming decades of HIV prevention campaigns that focused on barrier methods only. Third, there were social benefits to PrEP, such as shifting the onus of preventing HIV transmission from HIV positive to HIV negative people. PrEP is a highly effective biomedical intervention to reduce HIV transmission, and future challenges include designing campaigns for those at risk for HIV transmission outside the MSM community.

Expression of CYP24A1 and other multiple sclerosis risk genes in peripheral blood indicates response to vitamin D in homeostatic and inflammatory conditions.

Although genetic and epidemiological evidence indicates vitamin D insufficiency contributes to multiple sclerosis (MS), and serum levels of vitamin D increase on treatment with cholecalciferol, recent metanalyses indicate that this vitamin D form does not ameliorate disease. Genetic variation in genes regulating vitamin D, and regulated by vitamin D, affect MS risk. We evaluated if the expression of vitamin D responsive MS risk genes could be used to assess vitamin D response in immune cells. Peripheral blood mononuclear cells (PBMCs) were isolated from healthy controls and people with MS treated with dimethyl fumarate. We assayed changes in expression of vitamin D responsive MS risk (VDRMS) genes in response to treatment with 25 hydroxy vitamin D in the presence or absence of inflammatory stimuli. Expression of CYP24A1 and other VDRMS genes was significantly altered in PBMCs treated with vitamin D in the homeostatic and inflammatory models. Gene expression in MS samples had similar responses to controls, but lower initial expression of the risk genes. Vitamin D treatment abrogated these differences. Expression of CYP24A1 and other MS risk genes in blood immune cells indicate vitamin D response and could enable assessment of immunological response to vitamin D in clinical trials and on therapy.

How are Victorian Local Governments' responding to climate change and food insecurity?

ISSUE ADDRESSED: Climate change is one of the greatest challenges to public health and well-being. Steps taken by governments now will have a significant effect on public health outcomes, including the food system and food security. METHOD: This study reviewed municipal public health and well-being plans from 79 local government areas (LGAs) in Victoria, Australia. Documents were included if they explicitly mentioned climate change and food insecurity. Of the 79 LGAs, 13 met the selection criteria and a content and framing analysis was conducted to identify the level of recognition of climate change on food security and proposed mitigation actions and strategies. RESULTS: Of the 13 LGAs, the documents of six were identified as having a high level of responsiveness to climate change and food insecurity, five were assessed as medium and two low. Framing analysis identified council acknowledgment of how climate change effects food access through availability and price, and growing food locally and sustainably is seen as a common action to improve food security. CONCLUSION: The findings of this study suggest that planning for climate change and food insecurity is not a high priority for Victorian LGAs. Given the current political climate in Australia, where many in federal government continue to deny the existence of climate change or are reluctant to implement mitigation strategies, it is now and will be increasingly important into the future that local governments plan for the impact of climate change on food insecurity. SO WHAT?: Climate change will impact how people access food and what foods are available to them. Unless all levels of government start to address and plan for climate change, the impact on communities will continue to intensify and grow more costly and damaging.

Noninvasive Prenatal Diagnosis for Cystic Fibrosis: Implementation, Uptake, Outcome, and Implications.

BACKGROUND: Noninvasive prenatal diagnosis (NIPD) for monogenic disorders has a high uptake by families. Since 2013, our accredited public health service laboratory has offered NIPD for monogenic disorders, predominantly for de novo or paternally dominantly inherited mutations. Here we describe the extension of this service to include definitive NIPD for a recessive condition, cystic fibrosis (CF). METHODS: Definitive NIPD for CF was developed using next-generation sequencing. Validation was performed on 13 cases from 10 families before implementation. All cases referred for CF NIPD were reviewed to determine turnaround times, genotyping results, and pregnancy outcomes. RESULTS: Of 38 referrals, 36 received a result with a mean turnaround of 5.75 days (range, 3-11 days). Nine cases were initially inconclusive, with 3 reported unaffected because the low-risk paternal allele was inherited and 4 cases in which the high-risk paternal allele was inherited, receiving conclusive results following repeat testing. One case was inconclusive owing to a paternal recombination around the mutation site, and one case was uninformative because of no heterozygosity. Before 2016, 3 invasive referrals for CF were received annually compared with 38 for NIPD in the 24 months since offering a definitive NIPD service. CONCLUSIONS: Timely and accurate NIPD for definitive prenatal diagnosis of CF is possible in a public health service laboratory. The method detects recombinations, and the service is well-received as evidenced by the significant increase in referrals. The bioinformatic approach is gene agnostic and will be used to expand the range of conditions tested for.

A focused netnographic study exploring experiences associated with counterfeit and contaminated anabolic-androgenic steroids.

BACKGROUND: A primary consequence of illicit drug markets and the absence of regulation is the variable quality or purity of the final product. Analysis of anabolic-androgenic steroid seizures shows that these products can contain adulterated products, product not included on the label, or product of unsatisfactory standard. While the potential negative effects of counterfeit anabolic-androgenic steroids (AAS) use is a recognised risk associated with use, no study has explored personal experiences associated with use. The aim of the present study was to use online discussion forums to investigate and explore the experiences associated with the purchase and consumption of counterfeit AAS among consumers. METHODS: An online search was conducted to identify online forums that discussed counterfeit or contaminated AAS; three were deemed suitable for the study. The primary source of data for this study was the 'threads' from these online forums, identified using search terms including 'counterfeit', 'tampered', and 'fake'. Threads were thematically analysed for overall content, leading to the identification of themes. RESULTS: Data from 134 threads (2743 posts from 875 unique avatars) was included. Two main themes were identified from the analysis: (1) experiences with counterfeit product and (2) harms and benefits associated with counterfeit product. CONCLUSIONS: The use of counterfeit or contaminated substances represents a public health concern. Those who report using performance and image enhancing drugs such as AAS for non-medical purposes report consuming these substances and experiencing harm as a result. Consumers take steps to limit coming into contact with counterfeit or contaminated product, though recognise that many of these have limitations. The implementation of accessible drug safety checking services may provide an opportunity to provide consumers with information to assist them with making healthier choices.

Limited Clinical Utility of Non-invasive Prenatal Testing for Subchromosomal Abnormalities.

The use of massively parallel sequencing of maternal cfDNA for non-invasive prenatal testing (NIPT) of aneuploidy is widely available. Recently, the scope of testing has increased to include selected subchromosomal abnormalities, but the number of samples reported has been small. We developed a calling pipeline based on a segmentation algorithm for the detection of these rearrangements in maternal plasma. The same read depth used in our standard pipeline for aneuploidy NIPT detected 15/18 (83%) samples with pathogenic rearrangements > 6 Mb but only 2/10 samples with rearrangements < 6 Mb, unless they were maternally inherited. There were two false-positive calls in 534 samples with no known subchromosomal abnormalities (specificity 99.6%). Using higher read depths, we detected 29/31 fetal subchromosomal abnormalities, including the three samples with maternally inherited microduplications. We conclude that test sensitivity is a function of the fetal fraction, read depth, and size of the fetal CNV and that at least one of the two false negatives is due to a low fetal fraction. The lack of an independent method for determining fetal fraction, especially for female fetuses, leads to uncertainty in test sensitivity, which currently has implications for this technique's future as a clinical diagnostic test. Furthermore, to be effective, NIPT must be able to detect chromosomal rearrangements across the whole genome for a very low false-positive rate. Because standard NIPT can only detect the majority of larger (>6 Mb) chromosomal rearrangements and requires knowledge of fetal fraction, we consider that it is not yet ready for routine clinical implementation.

Using Art for Health Promotion: Evaluating an In-School Program Through Student Perspectives.

The value of incorporating arts-based approaches into health promotion programs has long been recognized as useful in affecting change. Such approaches have been used in many schools across Australia and have been found to promote general well-being and mental health. Despite these positive findings, few programs have used or evaluated an integrated arts-based approach to achieve health and well-being goals. This article presents the findings of an evaluation of an integrated arts-based program focused on creativity and improving well-being in students. The findings of this evaluation suggest that students who took part in the program were more interested in art and music at the end of the program and had gained an overall increase in awareness and mindfulness and a positivity toward leisure activities. This evaluation provides some evidence to suggest that this type of program is a promising way to promote well-being in schools.

Information sought, information shared: exploring performance and image enhancing drug user-facilitated harm reduction information in online forums.

BACKGROUND: There is good evidence to suggest that performance and image enhancing drug (PIED) use is increasing in Australia and that there is an increase in those using PIEDs who have never used another illicit substance. Peers have always been an important source of information in this group, though the rise of the Internet, and the increased use of Internet forums amongst substance consumers to share harm reduction information, means that PIED users may have access to a large array of views and opinions. The aim of this study was to explore the type of information that PIED users seek and share on these forums. METHODS: An online search was conducted to identify online forums that discussed PIED use. Three discussion forums were included in this study: aussiegymjunkies.com, bodybuildingforums.com.au, and brotherhoodofpain.com. The primary source of data for this study was the 'threads' from the online forums. Threads were thematically analysed for overall content, leading to the identification of themes. RESULTS: One hundred thirty-four threads and 1716 individual posts from 450 unique avatars were included in this analysis. Two themes were identified: (1) personal experiences and advice and (2) referral to services and referral to the scientific literature. CONCLUSIONS: Internet forums are an accessible way for members of the PIED community to seek and share information to reduce the harms associated with PIED use. Forum members show concern for both their own and others' use and, where they lack information, will recommend seeking information from medical professionals. Anecdotal evidence is given high credence though the findings from the scientific literature are used to support opinions. The engagement of health professionals within forums could prove a useful strategy for engaging with this population to provide harm reduction interventions, particularly as forum members are clearly seeking further reliable information, and peers may act as a conduit between users and the health and medical profession.

The CYP27B1 variant associated with an increased risk of autoimmune disease is underexpressed in tolerizing dendritic cells.

Genome-wide association studies have identified a linkage disequilibrium (LD) block on chromosome 12 associated with multiple sclerosis (MS), type 1 diabetes and other autoimmune diseases. This block contains CYP27B1, which catalyzes the conversion of 25 vitamin D3 (VitD3) to 1,25VitD3. Fine-mapping analysis has failed to identify which of the 17 genes in this block is most associated with MS. We have previously used a functional approach to identify the causal gene. We showed that the expression of several genes in this block in whole blood is highly associated with the MS risk allele, but not CYP27B1. Here, we show that CYP27B1 is predominantly expressed in dendritic cells (DCs). Its expression in these cells is necessary for their response to VitD, which is known to upregulate pathways involved in generating a tolerogenic DC phenotype. Here, we utilize a differentiation protocol to generate inflammatory (DC1) and tolerogenic (DC2) DCs, and show that for the MS risk allele CYP27B1 is underexpressed in DCs, especially DC2s. Of the other Chr12 LD block genes expressed in these cells, only METT21B expression was as affected by the genotype. Another gene associated with autoimmune diseases, CYP24A1, catabolizes 1,25 VitD3, and is predominantly expressed in DCs, but equally between DC1s and DC2s. Overall, these data are consistent with the hypothesis that reduced VitD pathway gene upregulation in DC2s of carriers of the risk haplotype of CYP27B1 contributes to autoimmune diseases. These data support therapeutic approaches aimed at targeting VitD effects on DCs.

The low EOMES/TBX21 molecular phenotype in multiple sclerosis reflects CD56+ cell dysregulation and is affected by immunomodulatory therapies.

Multiple Sclerosis (MS) is an autoimmune disease treated by therapies targeting peripheral blood cells. We previously identified that expression of two MS-risk genes, the transcription factors EOMES and TBX21 (ET), was low in blood from MS and stable over time. Here we replicated the low ET expression in a new MS cohort (p<0.0007 for EOMES, p<0.028 for TBX21) and demonstrate longitudinal stability (p<10(-4)) and high heritability (h(2)=0.48 for EOMES) for this molecular phenotype. Genes whose expression correlated with ET, especially those controlling cell migration, further defined the phenotype. CD56+ cells and other subsets expressed lower levels of Eomes or T-bet protein and/or were under-represented in MS. EOMES and TBX21 risk SNP genotypes, and serum EBNA-1 titres were not correlated with ET expression, but HLA-DRB1*1501 genotype was. ET expression was normalised to healthy control levels with natalizumab, and was highly variable for glatiramer acetate, fingolimod, interferon-beta, dimethyl fumarate.

Implementing Non-Invasive Prenatal Diagnosis (NIPD) in a National Health Service Laboratory; From Dominant to Recessive Disorders.

Our UK National Health Service regional genetics laboratory offers NIPD for autosomal dominant and de novo conditions (achondroplasia, thanataphoric dysplasia, Apert syndrome), paternal mutation exclusion for cystic fibrosis and a range of bespoke tests. NIPD avoids the risks associated with invasive testing, making prenatal diagnosis more accessible to families at high genetic risk. However, the challenge remains in offering definitive diagnosis for autosomal recessive diseases, which is complicated by the predominance of the maternal mutant allele in the cell-free DNA sample and thus requires a variety of different approaches. Validation and diagnostic implementation for NIPD of congenital adrenal hyperplasia (CAH) is further complicated by presence of a pseudogene that requires a different approach. We have used an assay targeting approximately 6700 heterozygous SNPs around the CAH gene (CYP21A2) to construct the high-risk parental haplotypes and tested this approach in five cases, showing that inheritance of the parental alleles can be correctly identified using NIPD. We are evaluating various measures of the fetal fraction to help determine inheritance of parental mutations. We are currently exploring the utility of an NIPD multi-disorder panel for autosomal recessive disease, to make testing more widely applicable to families with a variety of serious genetic conditions.