Journal articles on the topic 'Prenatal diagnosis Australia'

✓ Siamese or conjoined twins have intrigued both the physician and layperson for centuries. The craniopagus type (joined at the head) is exceedingly rare, with an incidence of one in 2.5 million births. Most clinicians never see a case of craniopagus, and those who do rarely see more than one. The authors present a case of the craniopagus type of conjoined twins born and recently separated in Brisbane, Australia. The prenatal diagnosis, subsequent investigations, separation, and outcome are presented.

IntroductionDuchenne Muscular Dystrophy (DMD), an X-linked recessive genetic disorder is maternally inherited in approximately two-thirds of affected boys. Female relatives have carrier risk. This study proposes that proactive genetic screening and counselling for patients’ relatives, contributes to reductions in preventable cases and ultimately disease incidence.MethodsA retrospective study of cases born in NSW from 1991–2013 was completed, using an electronic database of live male and prenatally diagnosed patients with DMD, referred to our tertiary service. Proband genotype/phenotype, pedigree, carrier-risk and extent of cascade screening were reviewed. Variance analysis (two-way ANOVA) was used to analyse changing trends in preventable cases.Results77 cases were identified. Mean age at presentation fell by 14-months over time. Probands were defined as ‘theoretically preventable’ when disease was identified in previous generations, or in males aged over 6 years, within the same generation. Fifteen (19%) cases were preventable, with a statistically significant decline in such cases over time.Cascade screening and prenatal testing of subsequent pregnancies was offered to all carrier mothers and female relatives in the mother’s generation. Fifteen women underwent prenatal testing. Three affected male foetuses were identified, with one live affected male being born, after parents proceeded with the pregnancy.ConclusionRigorous and expansive approaches to cascade-screening/counselling may account for decreases in preventable cases. Age of diagnosis has fallen, providing potential for more timely intervention, aided by newer diagnostic techniques that allow more accurate proband genotyping. Prenatal testing identified small numbers of affected males, facilitating parental decision-making in these select cases.

Foetal alcohol spectrum disorder (FASD) is a non-diagnostic umbrella term encompassing a spectrum of disorders caused by prenatal alcohol exposure. This article reports on a qualitative research project undertaken in three Indigenous communities in the West Kimberley region of Western Australia, intended to develop diversionary pathways for Indigenous young people with FASD at risk of enmeshment in the justice system. Rates of FASD in some parts of the West Kimberley are comparable to the highest identified internationally. A diagnosis of FASD amplifies the chances of Indigenous youth being caught up in the justice system in Western Australia, including indefinite detention in prison if found unfit to stand trial. A fresh diversionary paradigm is required. Employing a postcolonial perspective, we explore issues surrounding law and justice intervention – and non-intervention – in the lives of Indigenous children and their families. The FASD problem cannot be uncoupled from the history of colonial settlement and the multiple traumas resulting from dispossession, nor can solving the problem be isolated from the broader task of decolonizing relationships between Indigenous people and the settler mainstream. The decolonizing process involves expanding the role of Indigenous owned and place-based processes and services embedded in Indigenous knowledge.

Background Few studies have evaluated the effect of maternal influenza vaccination on the development of allergic and autoimmune diseases in children beyond 6 months of age. We aimed to investigate the association between in utero exposure to seasonal inactivated influenza vaccine (IIV) and subsequent diagnosis of allergic and autoimmune diseases. Methods and findings This longitudinal, population-based linked cohort study included 124,760 singleton, live-born children from 106,206 mothers in Western Australia (WA) born between April 2012 and July 2016, with up to 5 years of follow-up from birth. In our study cohort, 64,169 (51.4%) were male, 6,566 (5.3%) were Aboriginal and/or Torres Strait Islander children, and the mean age at the end of follow-up was 3.0 (standard deviation, 1.3) years. The exposure was receipt of seasonal IIV during pregnancy. The outcomes were diagnosis of an allergic or autoimmune disease, including asthma and anaphylaxis, identified from hospital and/or emergency department (ED) records. Inverse probability of treatment weights (IPTWs) accounted for baseline probability of vaccination by maternal age, Aboriginal and/or Torres Strait Islander status, socioeconomic status, body mass index, parity, medical conditions, pregnancy complications, prenatal smoking, and prenatal care. The models additionally adjusted for the Aboriginal and/or Torres Strait Islander status of the child. There were 14,396 (11.5%) maternally vaccinated children; 913 (6.3%) maternally vaccinated and 7,655 (6.9%) maternally unvaccinated children had a diagnosis of allergic or autoimmune disease, respectively. Overall, maternal influenza vaccination was not associated with diagnosis of an allergic or autoimmune disease (adjusted hazard ratio [aHR], 1.02; 95% confidence interval [CI], 0.95 to 1.09). In trimester-specific analyses, we identified a negative association between third trimester influenza vaccination and the diagnosis of asthma (n = 40; aHR, 0.70; 95% CI, 0.50 to 0.97) and anaphylaxis (n = 36; aHR, 0.67; 95% CI, 0.47 to 0.95).We did not capture outcomes diagnosed in a primary care setting; therefore, our findings are only generalizable to more severe events requiring hospitalization or presentation to the ED. Due to small cell sizes (i.e., <5), estimates could not be determined for all outcomes after stratification. Conclusions In this study, we observed no association between in utero exposure to influenza vaccine and diagnosis of allergic or autoimmune diseases. Although we identified a negative association of asthma and anaphylaxis diagnosis when seasonal IIV was administered later in pregnancy, additional studies are needed to confirm this. Overall, our findings support the safety of seasonal inactivated influenza vaccine during pregnancy in relation to allergic and autoimmune diseases in early childhood and support the continuation of current global maternal vaccine programs and policies.

Given a dearth of empirical and baseline data regarding genetic counselling in Australia, this study examined genetic counselling services in Queensland from January 1998 to December 1999. Secondary analysis was conducted with data from the Queensland Clinical Genetics Service (QCGS). During the study period, 8007 clients were seen in 4817 counselling sessions in urban and regional settings, with general practitioners (GPs) constituting the second largest referral source of clients. Genetic counsellors contributed to 80% of clinical genetic sessions as sole and co-counsellors, and counselled across 79 different disorders. Prenatal diagnosis counselling constituted the greatest workload with demands for cancer counselling increasing. Counsellors also provided educational and information services to individuals, families, general practitioners, health professionals and the community. The ratio of counsellors per head of population was less than national recommendations. Thus, although the existing model of genetic service delivery in Queensland demonstrates accessibility, the service in general is underutilised. As developments in genetic technology continue, this profession is expected to grow further and has the potential to contribute to service delivery at the primary health care level.

Abstract Molecular genetic testing for congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is offered worldwide and is of importance for differential diagnosis, carrier detection and adequate genetic counseling, particularly for family planning. In 2008 the European Molecular Genetics Quality Network (EMQN) for the first time offered a European-wide external quality assessment scheme for CAH (due to 21-OH deficiency). The interest was great and over the last years at about 60 laboratories from Europe, USA and Australia regularly participated in that scheme. These best practice guidelines were drafted on the basis of the extensive knowledge and experience got from those annually organized CAH-schemes. In order to obtain the widest possible consultation with practicing laboratories the draft was therefore circulated twice by EMQN to all laboratories participating in the EQA-scheme for CAH genotyping and was updated by that input. The present guidelines address quality requirements for diagnostic molecular genetic laboratories, as well as criteria for CYP21A2 genotyping (including carrier-testing and prenatal diagnosis). A key aspect of that article is the use of appropriate methodologies (e.g., sequencing methods, MLPA (multiplex ligation dependent probe amplification), mutation specific assays) and respective limitations and analytical accuracy. Moreover, these guidelines focus on classification of variants, and the interpretation and standardization of the reporting of CYP21A2 genotyping results. In addition, the article provides a comprehensive list of common as well as so far unreported CYP21A2-variants.

Non-invasive prenatal testing (NIPT) for a panel of 25 single gene disorders became available in Western Australia in 2020 and potentially may be able to test for panels of hundreds of disorders as is the case with reproductive carrier screening. How this information would be used by parents in a population screening model is unknown. We used a phenomenological approach to explore retrospectively whether mothers of children with single gene or chromosomal disorders would have wanted to know about their child’s genetic diagnosis prior to delivery. Themes were identified such as having a child with a de novo disorder and effect on pregnancy outcomes in hypothetical situations, impact on family function, the diagnostic journey and personal growth. These themes related to both the concept of expanded NIPT (ENIPT) and the situation of having a child with a de novo genetic disorder that could now hypothetically be detected through ENIPT. Opinions were divided about whether participants would have wanted to know about their affected child’s condition, indicating any expanded NIPT testing panels would need to be offered in the context of an appropriate comprehensive counselling program. How this would be provided on a population screening level and the role of genetic counselling needs further exploration.

Abstract STUDY QUESTION What is the frequency of major chromosome abnormalities in a population-based diagnostic data set of genomic tests performed on miscarriage, fetal and infant samples in a state with &gt;73 000 annual births? SUMMARY ANSWER The overall frequency of major chromosome abnormalities in the entire cohort was 28.2% (2493/8826), with a significant decrease in the detection of major chromosome abnormalities with later developmental stage, from 50.9% to 21.3% to 15.6% of tests in the miscarriage, prenatal and postnatal cohorts, respectively. WHAT IS KNOWN ALREADY Over the past decade, technological advances have revolutionized genomic testing at every stage of reproduction. Chromosomal microarrays (CMAs) are now the gold standard of chromosome assessment in prenatal diagnosis and pediatrics. STUDY DESIGN, SIZE, DURATION A population-based cohort study including all chromosome analysis was performed in the Australian state of Victoria during a 24-month period from January 2015 to December 2016. All samples obtained via invasive prenatal diagnosis and postnatal samples from pregnancy tissue and infants ≤12 months of age were included. PARTICIPANTS/MATERIALS, SETTING, METHODS A research collaboration of screening and diagnostic units in the Australian state of Victoria was formed (the Perinatal Record Linkage collaboration), capturing all instances of prenatal and postnatal chromosome testing performed in the state. Victoria has over 73 000 births per annum and a median maternal age of 31.5 years. We analyzed our population-based diagnostic data set for (i) chromosome assessment of miscarriage, prenatal diagnosis and postnatal samples; (ii) testing indications and diagnostic yields for each of these cohorts; (iii) and the combined prenatal/infant prevalence of 22q11.2 deletion syndrome (DS) as a proportion of all births ≥20 weeks gestation. MAIN RESULTS AND THE ROLE OF CHANCE During the 24-month study period, a total of 8826 chromosomal analyses were performed on prenatal and postnatal specimens in Victoria. The vast majority (91.2%) of all chromosome analyses were performed with CMA. The overall frequency of major chromosome abnormalities in the entire cohort was 28.2% (2493/8826). There was a significant decreasing trend in the percentage of chromosome abnormalities with later developmental stage from 50.9% to 21.3% to 15.6% in the miscarriage, prenatal and postnatal cohorts, respectively (χ2 trend = 790.0, P &lt; 0.0001). The total frequency of abnormalities in the live infant subgroup was 13.4% (244/1816). The frequencies of pathogenic copy number variants (CNVs) detected via CMA for the miscarriage, prenatal and postnatal cohorts were 1.9% (50/2573), 2.2% (82/3661) and 4.9% (127/2592), respectively. There was a significant increasing trend in the frequency of pathogenic CNVs with later developmental stage (χ2 trend = 39.72, P &lt; 0.0001). For the subgroup of live infants, the pathogenic CNV frequency on CMA analysis was 6.0% (109/1816). There were 38 diagnoses of 22q11.2 DS, including 1 miscarriage, 15 prenatal and 22 postnatal cases. After excluding the miscarriage case and accounting for duplicate testing, the estimated prevalence of 22q11 DS was 1 in 4558 Victorian births. LIMITATIONS, REASONS FOR CAUTION Clinical information was missing on 11.6% of postnatal samples, and gestational age was rarely provided on the miscarriage specimens. We were unable to obtain rates of termination of pregnancy and stillbirth in our cohort due to incomplete data provided by clinical referrers. We therefore cannot make conclusions on pregnancy or infant outcome following diagnostic testing. Childhood and adult diagnoses of 22q11 DS were not collected. WIDER IMPLICATIONS OF THE FINDINGS Our study marks a complete transition in genomic testing from the G-banded karyotype era, with CMA now established as the first line investigation for pregnancy losses, fetal diagnosis and newborn/infant assessment in a high-income setting. Integration of prenatal and postnatal diagnostic data sets provides important opportunities for estimating the prevalence of clinically important congenital syndromes, such as 22q11 DS. STUDY FUNDING/COMPETING INTEREST(S) L.H. is funded by a National Health and Medical Research Council Early Career Fellowship (1105603); A.L. was funded by a Mercy Perinatal Research Fellowship; J.H. was funded by a National Health and Medical Research Council Senior Research Fellowship (10121252). The funding bodies had no role in the conduct of the research or the manuscript. Discretionary funding from the Murdoch Children’s Research Institute has supported the prenatal diagnosis data collection and reporting over the years. Dr Ricardo Palma-Dias reports a commercial relationship with Roche Diagnostics, personal fees from Philips Ultrasound, outside the submitted work. Debbie Nisbet reports a commercial relationship with Roche Diagnostics, outside the submitted work. TRIAL REGISTRATION NUMBER NA

Abstract Abstract 5276 Pyruvate kinase (PK) deficiency of red cells (EC: 2.7.1.40) is the commonest inherited enzyme deficiency in the glycolytic pathway, leading to chronic non-spherocytic hemolytic anemia (CNSHA). There are over 220 characterized mutations deposited in a public database (PKLR Mutation Database http://www.pklrmutationdatabase.com). Heterozygous carriers are asymptomatic but homozygotes or compound heterozygotes can have significant anemia leading to transfusion dependency, neonatal death and hydrops fetalis. All ethnic groups are affected but data on Chinese are very scanty. We describe the first case of prenatal diagnosis for PK deficiency in Chinese and emphasize that this disease is an important differential diagnosis in pediatric patients with hemolytic anemia. A Han Chinese presented with hepatosplenomegaly, severe anemia and unconjugated hyperbilirubinemia at birth, necessitating exchange transfusion on day 1 and prolonged phototherapy till day 10 of life. Glucose-6-phosphate dehydrogenase level was normal. His parents were unrelated and asymptomatic. Family history was unremarkable. He developed severe CNSHA on follow up, requiring monthly red cell transfusion to relieve symptoms and to maintain satisfactory growth. Iron chelation therapy was started at 2 years of age and splenectomy was performed at 4 years to reduce transfusion requirement. The baseline PK enzyme level was not known but both parents had a mildly reduced PK level. Genetic analysis of PKLR gene was performed. All 11 exons and promoter were screened using polymerase chain reaction (PCR)-denaturing high performance liquid chromatography followed by PCR-sequencing. The father was found to carry a mutation in exon 8: PKLR: c.1073 G>A (p.Gly358Glu) while the sequencing result was normal in the mother. Quantitative multiplex PCR of short fluorescent fragments detected a rare large deletion removing exon 4 to exon 10 of the PKLR gene in the mother. Gap-PCR mapping confirmed that it to be a deletion previously found in a Vietnamese family (Costa C et al Haematologica 2005) and an Australian family (Fermo E et al Br J Haematol 2005). Both mutations have not been previously reported in Chinese. The proband was found to carry the paternal point mutation and the maternal deletion. Because of the severe clinical course of their first child, the couple requested prenatal biopsy was performed at 12 week of gestation. The fetus was found to be simple heterozygous for the paternal mutation. Pregnancy was allowed to continue and a healthy baby was born. A PK assay performed at the age of 9 months was normal. Mutation studies in a peripheral blood sample at 10 months of age confirmed the PKLR genotype. There was no evidence of hemolytic anemia after 3 years of follow up. Because of its perceived rarity and benignity in many ethnic groups, PK deficiency does not enter early into the differential diagnosis of anemia in pediatric patients. Its potential to cause severe disease is often overlooked and delay in diagnosis is common (Pissard S et al J Pediatr 2007). Genetic characterization and genotype-phenotype correlation studies on PKLR in different populations are indicated to better characterize the disease spectrum and to define the role of prenatal diagnosis in PK deficiency. Disclosures: No relevant conflicts of interest to declare.

Abstract Introduction FNAIT is associated with severe bleeding, especially intracranial hemorrhage (ICH), in the fetus and/or newborn. More than 75% of ICHs occur in utero and up to 50% before 32 weeks gestation. The consequences of ICH include death (35%) or serious neurological sequelae in survivors (83%). FNAIT requires prompt identification and treatment antepartum, postpartum and in subsequent pregnancies. An international panel was convened by the International Collaboration for Transfusion Medicine Guidelines (ICTMG) to develop evidence based recommendations for diagnosis and management of FNAIT. Methods The international panel consisted of specialists in adult and pediatric hematology, maternal fetal medicine (MFM), neonatology, methodology, transfusion medicine, and a patient representative. Clinical questions were developed for diagnostic testing, antenatal screening and management, and postnatal interventions. A systematic search for articles published between 1946 and June 2017 in MEDLINE, EMBASE and Cochrane was conducted. Recommendations were formulated based on the Grading of Recommendations, Assessment, Development and Evaluation (GRADE) method which incorporates the quality of the evidence, benefits and risks, and resource utilization. Web conferences and electronic correspondence were used to discuss the results of the systematic reviews and formulate recommendations. Considerations for clinical practice such as dosing of intravenous immunoglobulin (IVIG) and corticosteroids were detailed. Electronic surveys were sent to all members to assess agreement with recommendations. The final guidance document was sent to maternal fetal, hematology and pediatric societies for comments. Results Three systematic reviews (antenatal management, postnatal management and use of laboratory investigations to identify pregnancies at risk) were developed. Antenatal recommendations: Women with FNAIT in a previous pregnancy or sisters of women with FNAIT should be referred to MFM centers. Fetal HPA typing (e.g. HPA-1a/1b) should be performed in HPA-immunized pregnant women when the paternity is unknown or the partner is heterozygous or unavailable for testing. Prenatal HPA-1 typing should preferentially be performed by a non-invasive method e.g. cell-free fetal DNA (cffDNA) in maternal plasma if adequately quality assured. Antenatal IVIG administration to the mother commencing at 12-16 weeks gestation should be offered to all women in a subsequent pregnancy with maternal fetal incompatibility who have had a previous fetus or neonate with FNAIT related ICH. For all other pregnancies with a previous neonate with FNAIT (without ICH), administering antenatal IVIG to the mother should be discussed prior to a subsequent pregnancy or when pregnancy with maternal fetal incompatibility is confirmed. If corticosteroids are used with IVIG, dexamethasone should not be used because of the associated risk of oligohydramnios. Postnatal recommendations: HPA-selected platelets should be made available at delivery for potentially affected infants to increase the neonatal platelet count. If HPA-selected platelets are not immediately available, unselected platelets should be used. In the presence of life-threatening neonatal hemorrhage such as intracranial or gastrointestinal bleeding, platelets should be transfused to maintain platelet counts above 50 to 100x109/L for at least 7 days. In the absence of life-threatening bleeding in a neonate such as intracranial or gastrointestinal bleeding, platelets should be transfused to maintain a platelet count above 30x109/L. Conclusions The intent of this guidance document developed from systematic reviews is to promote best practices in the management of FNAIT. The guideline development group developed algorithms for treatment, podcasts for physicians and patients, pamphlets for patients and a slide set to assist with the implementation of recommendations into practice. This expert panel identified key areas for future research. One is the optimal approach to antenatal management of the next affected pregnancy. Developing biomarkers of fetal severity would be critical to this endeavor. In addition, creating comprehensive screening to identify HPA-1b1b women at risk of FNAIT would advance successful prevention of this disease. Disclosures Bakchoul: German Research Society (DFG): Research Funding; Aspen Germany gGmbH, CLS Behring, Stago gGmbH: Honoraria; Robert Bosch gGmbH: Research Funding. Kjaer:Prophylix Pharma: Equity Ownership. Kjeldsen-Kragh:Prophylix Pharma: Equity Ownership. Oepkes:Towards routine HPA screening in pregnancy: Research Funding. Bussel:Uptodate: Honoraria; Rigel: Consultancy, Research Funding; Novartis: Consultancy, Research Funding; Protalex: Consultancy; Amgen Inc.: Consultancy, Research Funding; Prophylix: Consultancy, Research Funding; Momenta: Consultancy. Arnold:Bristol Myers Squibb: Research Funding; Amgen: Consultancy, Research Funding; UCB: Consultancy; Novartis: Consultancy, Research Funding; Bristol Myers Squibb: Research Funding; UCB: Consultancy; Novartis: Consultancy, Research Funding; Amgen: Consultancy, Research Funding. Savoia:Neonatal Alloimmune Thrombocytopenia Registry of the Transfusion Outcomes Research Collaborative (TORC) Australia: Membership on an entity's Board of Directors or advisory committees.

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AbstractSurvival statistics, estimated using data from national cystic fibrosis (CF) registries, inform the CF community and monitor disease progression. This study aimed to estimate survival among people with CF in Australia and to identify factors associated with survival. This population-based cohort study used prospectively collected data from 23 Australian CF centres participating in the Australian CF Data Registry (ACFDR) from 2005–2020. Period survival analysis was used to calculate median age of survival estimates for each 5-year window from 2005–2009 until 2016–2020. The overall median survival was estimated using the Kaplan–Meier method. Between 2005–2020 the ACFDR followed 4,601 people with CF, noting 516 (11.2%) deaths including 195 following lung transplantation. Out of the total sample, more than half (52.5%) were male and 395 (8.6%) had undergone lung transplantation. Two thirds of people with CF (66.1%) were diagnosed before six weeks of age or by newborn/prenatal screening. The overall median age of survival was estimated as 54.0 years (95% CI: 51.0–57.04). Estimated median survival increased from 48.9 years (95% CI: 44.7–53.5) for people with CF born in 2005–2009, to 56.3 years (95% CI: 51.2–60.4) for those born in 2016–2020. Factors independently associated with reduced survival include receiving a lung transplant, having low FEV1pp and BMI. Median survival estimates are increasing in CF in Australia. This likely reflects multiple factors, including newborn screening, improvement in diagnosis, refinements in CF management and centre-based multidisciplinary care.

ObjectiveTo assess whether clinical and/or laboratory-confirmed diagnosis of maternal influenza during pregnancy increases the risk of seizures in early childhood.DesignAnalysis of prospectively collected registry data for children born between 2009 and 2013 in three high-income countries. We used Cox regression to estimate country-level adjusted HRs (aHRs); fixed-effects meta-analyses were used to pool adjusted estimates.SettingPopulation-based.Participants1 360 629 children born between 1 January 2009 and 31 December 2013 in Norway, Australia (New South Wales) and Canada (Ontario).ExposureClinical and/or laboratory-confirmed diagnosis of maternal influenza infection during pregnancy.Main outcome measuresWe extracted data on recorded seizure diagnosis in secondary/specialist healthcare between birth and up to 7 years of age; additional analyses were performed for the specific seizure outcomes ‘epilepsy’ and ‘febrile seizures’.ResultsAmong 1 360 629 children in the study population, 14 280 (1.0%) were exposed to maternal influenza in utero. Exposed children were at increased risk of seizures (aHR 1.17, 95% CI 1.07 to 1.28), and also febrile seizures (aHR 1.20, 95% CI 1.07 to 1.34). There was no strong evidence of an increased risk of epilepsy (aHR 1.07, 95% CI 0.81 to 1.41). Risk estimates for seizures were higher after influenza infection during the second and third trimester than for first trimester.ConclusionsIn this large international study, prenatal exposure to influenza infection was associated with increased risk of childhood seizures.

Background Antenatal screening is vital to identifying couples at risk of having children with a clinically significant haemoglobinopathy. In Australia, immigration is increasing carrier incidence. Methods A retrospective analysis was performed of full blood count, high-performance liquid chromatography and haemoglobin electrophoresis of women and their partners who underwent antenatal haemoglobinopathy screening over three years at a major NSW laboratory. Genetic testing results were included where available. Results One thousand six hundred and twenty-eight women and 729 male partners were screened at a median gestation of 14 weeks. 8.2% of women had a clinically significant result, with a median 16-day interval to partner testing. In 35% of couples screened simultaneously, the partner did not require testing. Genetic confirmatory testing was performed in 65% of high risk couples. Conclusion There was a significant delay to antenatal haemoglobinopathy screening for mothers, limiting time for genetic diagnosis, prenatal diagnosis and management of affected pregnancies. Screening should be performed earlier. Simultaneous couple testing is not cost-effective.

Objectives. The purpose of this study was to analyze the possible costs and economic efficiency of genetic screening in the framework of prenatal diagnostics by identifying the key factors that cause the occurrence of costs in this area. Materials and methods. Analytical reviews and doctrinal sources of Australia, great Britain, Canada and the United States are studied. Methods used: general philosophical, general scientific, private scientific, special. Results. The key factors that cause the emergence of costs in the field of genetic screening in the framework of prenatal diagnostics, which must be taken into account when assessing its economic efficiency, are identified. Conclusions. It is summarized that the affordable state program of genetic screening within the framework of prenatal diagnostics in the future will recoup the costs in terms of reducing the incidence of severe hereditary diseases, for the treatment of which significant financial resources are spent. In other words, this approach will reduce the long-term costs associated with late diagnosis and subsequent treatment of the child. At the same time, the investment benefit of the widespread introduction of genetic screening technology in the framework of prenatal diagnostics will not be immediately apparent, but in the long term it will reduce the budget burden on the health system and lead to a General improvement of the population, which, in turn, will not only improve the quality of life of citizens, but also make a significant contribution to the development of the national economy.

IntroductionFetal Alcohol Spectrum Disorder (FASD) is a neurodevelopmental disorder caused by prenatal alcoholexposure (PAE). FASD research is a rapidly growing field that crosses multiple disciplines. To ensureresearch is relevant and meaningful for people living with FASD, their families, and the broader publicthere is a need to engage community members in setting priorities for research. ObjectivesOur primary objective was to formally identify the views of people living with FASD, their par-ents/caregivers, service providers, and the general community on the research priorities for FASDand alcohol use in pregnancy in Australia. Our secondary objective was to provide an overview ofcurrent research in the highest priority areas identified. MethodsThe approach for this study involved two community surveys and a consensus workshop, followed bya rapid literature review. Survey responses (n = 146) were collected and grouped using qualitativethematic analysis. The themes identified were then ranked in a second survey (n = 45). The 22highest ranked themes were considered in a workshop with 21 community members, and consensuson the top ten priority areas was sought. The priority areas were grouped into conceptually similartopics and rapid literature reviews were undertaken on each. ResultsA diverse range of priorities was identified within key areas of prevention, diagnosis, and therapy. Onrequest from participants, separate priority lists were developed by Aboriginal and non-Aboriginalparticipants. ConclusionsThere is need for a national network of researchers to take forward the research commenced by theCentre of Research Excellence, FASD Research Australia, in addressing community priorities.

Abstract Background The implementation of genomic testing in pregnancy means that couples have access to more information about their child’s genetic make-up before birth than ever before. One of the resulting challenges is the management of genetic variations with unclear clinical significance. This population-based study will help to close this critical knowledge gap through a multidisciplinary cohort study of children with and without genomic copy number variants (CNVs) diagnosed before birth. By comparing children with prenatally-ascertained CNVs to children without a CNV, we aim to (1) examine their developmental, social-emotional and health status; (2) measure the impact of prenatal diagnosis of a CNV on maternal perceptions of child health, behavior and development; and (3) determine the proportion of prenatally-ascertained CNVs of unknown or uncertain significance that are reclassified as benign or pathogenic after 2 or more years. Methods This study will establish and follow up a cohort of mother-child pairs who have had a prenatal diagnosis with a chromosomal microarray from 2013-2019 in the Australian state of Victoria. Children aged 12 months to 7 years will be assessed using validated, age-appropriate measures. The primary outcome measures will be the Wechsler Preschool and Primary Scale of Intelligence IV (WPSSI-IV) IQ score (2.5 to 7 year old’s), the Ages and Stages Questionnaire (12-30 months old), and the Brief Infant- Toddler Social and Emotional Assessment (BITSEA) score. Clinical assessment by a pediatrician will also be performed. Secondary outcomes will be scores obtained from the: Vineland Adaptive Behavior Scale, Maternal Postnatal Attachment Questionnaire, the Vulnerable Child Scale, Profile of Mood States, Parent Sense of Competence Scale. A descriptive analysis of the reclassification rates of CNVs after ≥2 years will be performed. Discussion This study protocol describes the first Australian cohort study following children after prenatal diagnostic testing with chromosomal microarray. It will provide long-term outcomes of fetal genomic variants to guide evidence-based pre-and postnatal care. This, in turn, will inform future efforts to mitigate the negative consequences of conveying genomic uncertainty during pregnancy. Trial registration ACTRN12620000446965p; Registered on April 6, 2020.

Objective: Poorer mother–infant interaction quality has been identified among women with major depression; however, there is a dearth of research examining the impact of bipolar disorder. This study sought to compare mother–infant emotional availability at 6 months postpartum among women with perinatal major depressive disorder, bipolar disorder and no disorder (control). Methods: Data were obtained for 127 mother–infant dyads from an Australian pregnancy cohort. The Structured Clinical Interview for the DSM-5 was used to diagnose major depressive disorder ( n = 60) and bipolar disorder ( n = 12) in early pregnancy (less than 20 weeks) and review diagnosis at 6 months postpartum. Prenatal and postnatal depressive symptoms were measured using the Edinburgh Postnatal Depression Scale, along with self-report psychotropic medication use. Mother and infant’s interaction quality was measured using the Emotional Availability Scales when infants reached 6 months of age. Multivariate analyses of covariance examining the effects of major depressive disorder and bipolar disorder on maternal emotional availability (sensitivity, structuring, non-intrusiveness, non-hostility) and child emotional availability (responsiveness, involvement) were conducted. Results: After controlling for maternal age and postpartum depressive symptoms, perinatal disorder (major depressive disorder, bipolar disorder) accounted for 17% of the variance in maternal and child emotional availability combined. Compared to women with major depressive disorder and their infants, women with bipolar disorder and their infants displayed lower ratings across all maternal and child emotional availability qualities, with the greatest mean difference seen in non-intrusiveness scores. Conclusions: Findings suggest that perinatal bipolar disorder may be associated with additional risk, beyond major depressive disorder alone, to a mother and her offspring’s emotional availability at 6 months postpartum, particularly in maternal intrusiveness.

Abstract Background and Aims Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the 4th common cause of renal replacement therapy worldwide. As the disorder has been historically considered an adult-onset disease, there is a lack of longitudinal data from large pediatric cohorts. However, evidence is growing that first manifestations of ADPKD may be detected in childhood and children represent a specific target population for future treatment, allowing a better chance of preserving long term kidney function. To better define the pediatric spectrum of the disease, a global multicenter observational study on childhood-diagnosed ADPKD was launched in 2017. Method The ADPedKD registry is a worldwide web-based database, including both retrospective and prospective longitudinal data from young ADPKD patients (≤19 years). Australia, North-America and the United Kingdom joined the initiative with their source databases, namely the KidGen Collaborative (KidGen), NIH-funded Hepato-Renal Fibrocystic Disease (HRFD) and National Registry of Rare Kidney Diseases (RaDaR). Under informed consent, de-identified patient data, including genetics, radiological and laboratory findings, treatments and follow-up were enrolled in the database accessible via https://www.ADPedKd.org/. Results 1019 ADPKD children (from 89 centers and 33 countries) are enrolled in the registry of which 167 patients from RaDaR, 17 from KidGen, 11 from HRFD and 824 from ADPedKD (401 male/ 423 female) with a mean (± SD) age at diagnosis of 6.3 ± 5.2 years. 81 children (9.8%) were diagnosed prenatally at a mean gestational age of 26.8 ± 7.8 weeks. Reasons for initial visit were: family screening in 325 (39.4%), postnatal incidental finding in 223 (27.0%), presenting features (such as hematuria, hypertension, urinary tract infections and flank or back pain) in 150 (18.2%) or unknown/not available in 126 (15.3%). Genetic testing was performed in 42.8% of the population, with the following results: PKD1 mutation (85.4%), PKD2 mutation (11.7%) and others (6.0%). Conclusion The ADPedKD registry is a unique source of clinical observational data that will provide deep phenotyping of children with ADPKD and will allow to define unified diagnostic, treatment and follow-up recommendations.

IntroductionLike other forms of embodiment, pregnancy has increasingly become subject to representation and interpretation via digital technologies. Pregnancy and the unborn entity were largely private, and few people beyond the pregnant women herself had access to the foetus growing within her (Duden). Now pregnant and foetal bodies have become open to public portrayal and display (Lupton The Social Worlds of the Unborn). A plethora of online materials – websites depicting the unborn entity from the moment of conception, amateur YouTube videos of births, social media postings of ultrasounds and self-taken photos (‘selfies’) showing changes in pregnant bellies, and so on – now ensure the documentation of pregnant and unborn bodies in extensive detail, rendering them open to other people’s scrutiny. Other recent digital technologies directed at pregnancy include mobile software applications, or ‘apps’. In this article, we draw on our study involving a critical discourse analysis of a corpus of pregnancy-related apps offered in the two major app stores. In so doing, we discuss the ways in which pregnancy-related apps portray pregnant and unborn bodies. We place a particular focus on the ludification and gamification strategies employed to position pregnancy as a playful, creative and fulfilling experience that is frequently focused on consumption. As we will demonstrate, these strategies have wider implications for concepts of pregnant and foetal embodiment and subjectivity.It is important here to make a distinction between ludification and gamification. Ludification is a broader term than gamification. It is used in the academic literature on gaming (sometimes referred to as ‘ludology’) to refer to elements of games reaching into other aspects of life beyond leisure pursuits (Frissen et al. Playful Identities: The Ludification of Digital Media Cultures; Raessens). Frissen et al. (Frissen et al. "Homo Ludens 2.0: Play, Media and Identity") for example, claim that even serious pursuits such as work, politics, education and warfare have been subjected to ludification. They note that digital technologies in general tend to incorporate ludic dimensions. Gamification has been described as ‘the use of game design elements in non-game contexts’ (Deterding et al. 9). The term originated in the digital media industry to describe the incorporation of features into digital technologies that not explicitly designed as games, such as competition, badges, rewards and fun that engaged and motivated users to make them more enjoyable to use. Gamification is now often used in literatures on marketing strategies, persuasive computing or behaviour modification. It is an important element of ‘nudge’, an approach to behaviour change that involves persuasion over coercion (Jones, Pykett and Whitehead). Gamification thus differs from ludification in that the former involves applying ludic principles for reasons other than the pleasures of enjoying the game for their own sake, often to achieve objectives set by actors and agencies other than the gamer. Indeed, this is why gamification software has been described by Bogost (Bogost) as ‘exploitationware’. Analysing Pregnancy AppsMobile apps have become an important medium in contemporary digital technology use. As of May 2015, 1.5 million apps were available to download on Google Play while 1.4 million were available in the Apple App Store (Statista). Apps related to pregnancy are a popular item in app stores, frequently appearing on the Apple App Store’s list of most-downloaded apps. Google Play’s figures show that many apps directed at pregnant women have been downloaded hundreds of thousands, or even millions, of times. For example, ‘Pregnancy +’, ‘I’m Expecting - Pregnancy App’ and ‘What to Expect - Pregnancy Tracker’ have each been downloaded between one and five million times, while ‘My Pregnancy Today’ has received between five and ten million downloads. Pregnancy games for young girls are also popular. Google Play figures show that the ‘Pregnant Emergency Doctor’ game, for example, has received between one and five million downloads. Research has found that pregnant women commonly download pregnancy-related apps and find them useful sources of information and support (Hearn, Miller and Fletcher; Rodger et al.; Kraschnewski et al.; Declercq et al.; Derbyshire and Dancey; O'Higgins et al.). We conducted a comprehensive analysis of all pregnancy-related smartphone apps in the two major app stores, Apple App Store and Google Play, in late June 2015. Android and Apple’s iOS have a combined market share of 91 percent of apps installed on mobile phones (Seneviratne et al.). A search for all pregnancy-related apps offered in these stores used key terms such as pregnancy, childbirth, conception, foetus/fetus and baby. After eliminating apps listed in these searches that were clearly not human pregnancy-related, 665 apps on Google Play and 1,141 on the Apple App Store remained for inclusion in our study. (Many of these apps were shared across the stores.)We carried out a critical discourse analysis of these apps, looking closely at the app descriptions offered in the two stores. We adopted the perspective that sees apps, like any other form of media, as sociocultural artefacts that both draw on and reproduce shared norms, ideals, knowledges and beliefs (Lupton "Quantified Sex: A Critical Analysis of Sexual and Reproductive Self-Tracking Using Apps"; Millington "Smartphone Apps and the Mobile Privatization of Health and Fitness"; Lupton "Apps as Artefacts: Towards a Critical Perspective on Mobile Health and Medical Apps"). In undertaking our analysis of the app descriptions in our corpus, attention was paid to the title of each app, the textual accounts of its content and use and the images that were employed, such as the logo of the app and the screenshots that were used to illustrate its content and style. Our focus in this article is on the apps that we considered as including elements of entertainment. Pregnancy-related game apps were by far the largest category of the apps in our corpus. These included games for young girls and expectant fathers as well as apps for ultrasound manipulation, pregnancy pranks, foetal sex prediction, choosing baby names, and quizzes. Less obviously, many other apps included in our analysis offered some elements of gamification and ludification, and these were considered in our analysis. ‘Pregnant Adventures’: App Games for GirlsOne of the major genres of apps that we identified was games directed at young girls. These apps invited users to shop for clothes, dress up, give a new hair style, ‘make-over’ and otherwise beautify a pregnant woman. These activities were directed at the goal of improving the physical attractiveness and therefore (it was suggested) the confidence of the woman, who was presented as struggling with coming to terms with changes in her body during pregnancy. Other apps for this target group involved the player assuming the role of a doctor in conducting medical treatments for injured pregnant women or assisting the birth of her baby.Many of these games represented the pregnant woman visually as looking like an archetypal Barbie doll, with a wardrobe to match. One app (‘Barbara Pregnancy Shopping’) even uses the name ‘Barbara’ and the screenshots show a woman similar in appearance to the doll. Its description urges players to use the game to ‘cheer up’ an ‘unconfident’ Barbara by taking her on a ‘shopping spree’ for new, glamorous clothes ‘to make Barbara feel beautiful throughout her pregnancy’. Players may find ‘sparkly accessories’ as well for Barbara and help her find a new hairstyle so that she ‘can be her fashionable self again’ and ‘feel prepared to welcome her baby!’. Likewise, the game ‘Pregnant Mommy Makeover Spa’ involves players selecting clothes, applying beauty treatments and makeup and adding accessories to give a makeover to ‘Pregnant Princess’ Leila. The ‘Celebrity Mommy’s Newborn Baby Doctor’ game combines the drawcard of ‘celebrity’ with ‘mommy’. Players are invited to ‘join the celebrities in their pregnancy adventure!’ and ‘take care of Celebrity Mom during her pregnancy!’.An app by the same developer of ‘Barbara Pregnancy Shopping’ also offers ‘Barbara’s Caesarean Birth’. The app description claims that: ‘Of course her poor health doesn’t allow Barbara to give birth to her baby herself.’ It is up to players to ‘make everything perfect’ for Barbara’s caesarean birth. The screenshots show Barbara’s pregnant abdomen being slit open, retracted and a rosy, totally clean infant extracted from the incision, complete with blonde hair. Players then sew up the wound. A final screenshot displays an image of a smiling Barbara standing holding her sleeping, swaddled baby, with the words ‘You win’.Similar games involve princesses, mermaids, fairies and even monster and vampire pregnant women giving birth either vaginally or by caesarean. Despite their preternatural status, the monster and vampire women conform to the same aesthetic as the other pregnant women in these games: usually with long hair and pretty, made-up faces, wearing fashionable clothing even on the operating table. Their newborn infants are similarly uniform in their appearance as they emerge from the uterus. They are white-skinned, clean and cherubic (described in ‘Mommy’s Newborn Baby Princess’ as ‘the cutest baby you probably want’), a far cry from the squalling, squashed-faced infants smeared in birth fluids produced by the real birth process.In these pregnancy games for girls, the pain and intense bodily effort of birthing and the messiness produced by the blood and other body fluids inherent to the process of labour and birth are completely missing. The fact that caesarean birth is a major abdominal surgery requiring weeks of recovery is obviated in these games. Apart from the monsters and vampires, who may have green- or blue-hued skin, nearly all other pregnant women are portrayed as white-skinned, young, wearing makeup and slim, conforming to conventional stereotypical notions of female beauty. In these apps, the labouring women remain glamorous, usually smiling, calm and unsullied by the visceral nature of birth.‘Track Your Pregnancy Day by Day’: Self-Monitoring and Gamified PregnancyElements of gamification were evident in a large number of the apps in our corpus, including many apps that invite pregnant users to engage in self-tracking of their bodies and that of their foetuses. Users are asked to customise the apps to document their changing bodies and track their foetus’ development as part of reproducing the discourse of the miraculous nature of pregnancy and promoting the pleasures of self-tracking and self-transformation from pregnant woman to mother. When using the ‘Pregnancy+’ app, for example, users can choose to construct a ‘Personal Dashboard’ that includes details of their pregnancy. They can input their photograph, first name and their expected date of delivery so that that each daily update begins with ‘Hello [name of user], you are [ ] weeks and [ ] days pregnant’ with the users’ photograph attached to the message. The woman’s weight gain over time and a foetal kick counter are also included in this app. It provides various ways for users to mark the passage of time, observe the ways in which their foetuses change and move week by week and monitor changes in their bodies. According to the app description for ‘My Pregnancy Today’, using such features allows a pregnant woman to: ‘Track your pregnancy day by day.’ Other apps encourage women to track such aspects of physical activity, vitamin and fluid intake, diet, mood and symptoms. The capacity to visually document the pregnant user’s body is also a feature of several apps. The ‘Baby Bump Pregnancy’, ‘WebMD Pregnancy’, ‘I’m Expecting’,’iPregnant’ and ‘My Pregnancy Today’ apps, for example, all offer an album feature for pregnant bump photos taken by the user of herself (described as a ‘bumpie’ in the blurb for ‘My Pregnancy Today’). ‘Baby Buddy’ encourages women to create a pregnant avatar of themselves (looking glamorous, well-dressed and happy). Some apps even advise users on how they should feel. As a screenshot from ‘Pregnancy Tracker Week by Week’ claims: ‘Victoria, your baby is growing in your body. You should be the happiest woman in the world.’Just as pregnancy games for little girls portrayal pregnancy as a commodified and asetheticised experience, the apps directed at pregnant women themselves tend to shy away from discomforting fleshly realities of pregnant and birthing embodiment. Pregnancy is represented as an enjoyable and fashionable state of embodiment: albeit one that requires constant self-surveillance and vigilance.‘Hello Mommy!’: The Personalisation and Aestheticisation of the FoetusA dominant feature of pregnancy-related apps is the representation of the foetus as already a communicative person in its own right. For example, the ‘Pregnancy Tickers – Widget’ app features the image of a foetus (looking far more like an infant, with a full head of wavy hair and open eyes) holding a pencil and marking a tally on the walls of the uterus. The app is designed to provide various icons showing the progress of the user’s pregnancy each day on her mobile device. The ‘Hi Mommy’ app features a cartoon-like pink and cuddly foetus looking very baby-like addressing its mother from the womb, as in the following message that appears on the user’s smartphone: ‘Hi Mommy! When will I see you for the first time?’ Several pregnancy-tracking apps also allow women to input the name that they have chosen for their expected baby, to receive customised notifications of its progress (‘Justin is nine weeks and two days old today’).Many apps also incorporate images of foetuses that represent them as wondrous entities, adopting the visual style of 1960s foetal photography pioneer Lennart Nilsson, or what Stormer (Stormer) has referred to as ‘prenatal sublimity’. The ‘Pregnancy+’ app features such images. Users can choose to view foetal development week-by-week as a colourful computerised animation or 2D and 3D ultrasound scans that have been digitally manipulated to render them aesthetically appealing. These images replicate the softly pink, glowing portrayals of miraculous unborn life typical of Nilsson’s style.Other apps adopt a more contemporary aesthetic and allow parents to store and manipulate images of their foetal ultrasounds and then share them via social media. The ‘Pimp My Ultrasound’ app, for example, invites prospective parents to manipulate images of their foetal ultrasounds by adding in novelty features to the foetal image such as baseball caps, jewellery, credit cards and musical instruments. The ‘Hello Mom’ app creates a ‘fetal album’ of ultrasounds taken of the user’s foetus, while the ‘Ultrasound Viewer’ app lets users manipulate their 3/4 D foetal ultrasound images: ‘Have fun viewing it from every angle, rotating, panning and zooming to see your babies [sic] features and share with your family and friends via Facebook and Twitter! … Once uploaded, you can customise your scan with a background colour and skin colour of your choice’.DiscussionPregnancy, like any other form of embodiment, is performative. Pregnant women are expected to conform to norms and assumptions about their physical appearance and deportment of their bodies that expect them to remain well-groomed, fit and physically attractive without appearing overly sexual (Longhurst "(Ad)Dressing Pregnant Bodies in New Zealand: Clothing, Fashion, Subjectivities and Spatialities"; Longhurst "'Corporeographies’ of Pregnancy: ‘Bikini Babes'"; Nash; Littler). Simultaneously they must negotiate the burden of bodily management in the interests of risk regulation. They are expected to protect their vulnerable unborn from potential dangers by stringently disciplining their bodies and policing to what substances they allow entry (Lupton The Social Worlds of the Unborn; Lupton "'Precious Cargo': Risk and Reproductive Citizenship"). Pregnancy self-tracking apps enact the soft politics of algorithmic authority, encouraging people to conform to expectations of self-responsibility and self-management by devoting attention to monitoring their bodies and acting on the data that they generate (Whitson; Millington "Amusing Ourselves to Life: Fitness Consumerism and the Birth of Bio-Games"; Lupton The Quantified Self: A Sociology of Self-Tracking).Many commentators have remarked on the sexism inherent in digital games (e.g. Dickerman, Christensen and Kerl-McClain; Thornham). Very little research has been conducted specifically on the gendered nature of app games. However our analysis suggests that, at least in relation to the pregnant woman, reductionist heteronormative, cisgendered, patronising and paternalistic stereotypes abound. In the games for girls, pregnant women are ideally young, heterosexual, partnered, attractive, slim and well-groomed, before, during and after birth. In self-tracking apps, pregnant women are portrayed as ideally self-responsible, enthused about their pregnancy and foetus to the point that they are counting the days until the birth and enthusiastic about collecting and sharing details about themselves and their unborn (often via social media).Ambivalence about pregnancy, the foetus or impending motherhood, and lack of interest in monitoring the pregnancy or sharing details of it with others are not accommodated, acknowledged or expected by these apps. Acknowledgement of the possibility of pregnant women who are not overtly positive about their pregnancy or lack interest in it or who identify as transgender or lesbian or who are sole mothers is distinctly absent.Common practices we noted in apps – such as giving foetuses names before birth and representing them as verbally communicating with their mothers from inside the womb – underpin a growing intensification around the notion of the unborn entity as already an infant and social actor in its own right. These practices have significant implications for political agendas around the treatment of pregnant women in terms of their protection or otherwise of their unborn, and for debates about women’s reproductive rights and access to abortion (Lupton The Social Worlds of the Unborn; Taylor The Public Life of the Fetal Sonogram: Technology, Consumption and the Politics of Reproduction). Further, the gamification and ludification of pregnancy serve to further commodify the experience of pregnancy and childbirth, contributing to an already highly commercialised environment in which expectant parents, and particularly mothers, are invited to purchase many goods and services related to pregnancy and early parenthood (Taylor "Of Sonograms and Baby Prams: Prenatal Diagnosis, Pregnancy, and Consumption"; Kroløkke; Thomson et al.; Taylor The Public Life of the Fetal Sonogram: Technology, Consumption and the Politics of Reproduction; Thomas).In the games for girls we examined, the pregnant woman herself was a commodity, a selling point for the app. The foetus was also frequently commodified in its representation as an aestheticised entity and the employment of its image (either as an ultrasound or other visual representations) or identity to market apps such as the girls’ games, apps for manipulating ultrasound images, games for predicting the foetus’ sex and choosing its name, and prank apps using fake ultrasounds purporting to reveal a foetus inside a person’s body. As the pregnant user engages in apps, she becomes a commodity in yet another way: the generator of personal data that are marketable in themselves. In this era of the digital data knowledge economy, the personal information about people gathered from their online interactions and content creation has become highly profitable for third parties (Andrejevic; van Dijck). Given that pregnant women are usually in the market for many new goods and services, their personal data is a key target for data mining companies, who harvest it to sell to advertisers (Marwick).To conclude, our analysis suggests that gamification and ludification strategies directed at pregnancy and childbirth can serve to obfuscate the societal pressures that expect and seek to motivate pregnant women to maintain physical fitness and attractiveness, simultaneously ensuring that they protect their foetuses from all possible risks. In achieving both ends, women are encouraged to engage in intense self-monitoring and regulation of their bodies. These apps also reproduce concepts of the unborn entity as a precious and beautiful already-human. These types of portrayals have important implications for how young girls learn about pregnancy and childbirth, for pregnant women’s experiences and for concepts of foetal personhood that in turn may influence women’s reproductive rights and abortion politics.ReferencesAndrejevic, Mark. Infoglut: How Too Much Information Is Changing the Way We Think and Know. New York: Routledge, 2013. Print.Bogost, Ian. "Why Gamification Is Bullshit." The Gameful World: Approaches, Issues, Applications. Eds. Steffen Walz and Sebastian Deterding. Boston, MA: MIT Press, 2015. 65-80. Print.Declercq, E.R., et al. Listening to Mothers III: Pregnancy and Birth. New York: Childbirth Connection, 2013. Print.Derbyshire, Emma, and Darren Dancey. 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