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Objective: The aim of this study was to evaluate the indications for maternal TORCH (Toxoplasma gondii, rubella, cytomegalovirus (CMV), and herpes simplex virus (HSV)) serology, with a focus on the yield in isolated fetal growth restriction (FGR). Materials and Methods: A retrospective review of antenatal TORCH testing between January 2014 and December 2018 was carried out at two hospitals in Melbourne, Australia. TORCH testing ordered for pregnancy losses and stillbirth was excluded. Results: Medical records of 718 pregnancies were reviewed, representing 760 fetuses. Isolated FGR was the indication for TORCH screening in 71.2% of pregnancies. Screens ordered for isolated FGR were positive in 7.4% (95% CI 5.5–10.0%). There were 49 positive maternal immunoglobulin M (CMV = 34, Toxoplasma = 15). Two acute maternal infections during pregnancy were diagnosed (CMV = 1, Toxoplasma = 1), with both screens ordered to assess symptomatic maternal illness. There was one neonatal CMV infection, born to a woman with symptomatic primary CMV. No maternal or neonatal rubella or HSV infections were identified. We found a diagnostic yield of TORCH screening for isolated FGR of 0.0% (95% CI 0.00–0.8%). An estimated AUD$64 269.75 was expended on maternal TORCH screens in this study. Conclusion: Maternal TORCH testing for isolated FGR is of no diagnostic yield and should be abandoned. [ABSTRACT FROM AUTHOR]

Background Aims Methods Results Conclusions Australian rates of adverse obstetric outcomes have improved little despite guidelines recommending history‐based screening and intervention. The first trimester provides a unique opportunity to predict and prevent complications, yet population‐based screening has failed to be translated into broad clinical practice.This study aimed to redesign antenatal care within an Australian public healthcare centre to align with evidence‐based maternity care, including population‐based first‐trimester screening with early initiation of preventative strategies in high‐risk pregnancies.A five‐phase action‐process model, sharing key elements with implementation science theory, was used to explore barriers to change in antenatal care, co‐design a novel service with consumers and establish a population‐based antenatal pathway commencing with a multidisciplinary first‐trimester screening, assessment and planning visit.The case for change and associated barriers were defined from the perspective of antenatal care stakeholders. Key needs of each group were established, and solutions were created using co‐design methodology, allowing the team to create a novel approach to antenatal care which directly addressed identified barriers. Implementation of the service was associated with a fall in the median gestation at first specialist maternity care provider visit from 20 to 13 weeks.This study confirms the feasibility of establishing a comprehensive first‐trimester screening program within a public Australian healthcare setting and highlights a co‐design process which places individualised assessment at the forefront of antenatal care. This framework may be applicable to most public maternity settings in Australia, with expansion aimed at providing equity of care, including in rural and remote settings. [ABSTRACT FROM AUTHOR]

Background: Combined first‐trimester screening (cFTS) for fetal anomalies involves maternal serum screening for biochemical markers and measurement of the nuchal translucency (NT) by ultrasound. Noninvasive prenatal screening (NIPS) analyses cell‐free DNA present in a maternal blood sample for presence of fetal chromosomal aneuploidies. Aims: To compare NIPS with cFTS as frontline screening in a public hospital in Australia. Materials and methods: Women were offered NIPS in addition to the usual cFTS routinely offered to all women at a public hospital in NSW, Australia. The cFTS sample was collected at ten weeks' gestation and the NIPS sample at 12 weeks' gestation at the ultrasound appointment. Results: In a low‐risk population of 997 women, frontline NIPS had a screen‐positive rate of 0.5% (5/997) vs 4.2% (42/997) with cFTS. cFTS correctly identified one trisomy 21 case and one trisomy 18 case; however, there were two trisomy 18 false negatives. Of five positive NIPS calls, four were correctly identified as trisomy 21 (one) and trisomy 18 (three); there were no NIPS false negatives. Overall, the false‐positive rate with NIPS was 0.1% vs 4.0% by cFTS. Conclusions: The lower screen‐positive rate with NIPS for common trisomies was a result of the significantly lower false‐positive rate with NIPS. Consequently, NIPS as first‐line screening, even if funded by the hospital, may provide cost savings. We believe NIPS should be used from ten weeks' gestation in conjunction with morphology ultrasound for routine first‐trimester prenatal management. [ABSTRACT FROM AUTHOR]

Aims: The aim of this study was to evaluate the association of a low cerebroplacental ratio (CPR) with hypoxic ischaemic encephalopathy (HIE), severe neonatal morbidity (SNM) and perinatal mortality (PNM). Methods: This was a retrospective cohort study of late‐preterm and term births at Mater Mothers' Hospital, Brisbane, between 2016 and 2020. Study outcomes were HIE, PNM and SNM (a composite of severe acidosis, Apgar score less than four at 5 min, severe respiratory distress or need for significant cardiopulmonary resuscitation at birth). Univariate and multivariable logistic regressions were used to determine if a low CPR was associated with HIE, SNM or PNM. Results: A total of 51 870 births met the inclusion criteria. Of these, 216 (0.42%) were complicated by HIE, 10 224 (19.7%) had SNM and 251 (0.48%) had PNM. Rates of low CPR (<10th and <5th centile) were significantly higher in the SNM cohort (20.1 and 13.2%, respectively) and PNM cohort (21.1 and 15.1%, respectively) compared to the overall cohort. A low CPR was associated with significantly increased adjusted odds for SNM but not for HIE or PNM. The area under the receiver operating characteristic curve for CPR <10th centile was greatest for SNM (0.768) and lowest for HIE (0.595). Predictive margins of a low CPR for HIE, SNM and PNM were significant only for SNM at late‐preterm gestations. Conclusions: A low CPR is associated with increased odds of SNM in infants born >34 weeks' gestation but not for HIE or PNM. [ABSTRACT FROM AUTHOR]

Prenatal screening for aneuploidy has undergone immense changes over the past two decades. In 2013 cell‐free DNA‐based non‐invasive prenatal testing (NIPT) became a new self‐funded option primarily for Down syndrome screening, but also other aneuploidies and genetic conditions. The numbers of Medicare item claims for prenatal diagnostic procedures have halved since the introduction of NIPT, while billings for serum screening fell by 40% over the same period, on a background of steady births. Australia is now observing historically low rates of prenatal diagnostic testing. These data provide an informative snapshot of historic changes in prenatal screening and diagnosis, as our sector prepares for the impending impacts of other advances in genomics on maternity care. They also highlight the need to address equity and quality issues that arise when consumers must bear the full costs of improved genomic tests in the absence of Medicare funding. [ABSTRACT FROM AUTHOR]

Background: Non‐invasive prenatal testing (NIPT) using cell‐free DNA (cfDNA) has expanded from detecting chromosome aneuploidy to testing for a variety of genetic conditions, including some select single gene disorders. As next generation sequencing/whole exome sequencing technology develops, it may be possible to expand NIPT of cfDNA to identify hundreds of single gene and chromosomal disorders in a fetus, thereby increasing the complexity of pretest counselling and parental decision‐making. Aim: The aim of this study was to assess the views of women on the phenotypes of genetic conditions potentially detectable with expanded NIPT that they would consider severe enough to warrant pregnancy termination. Materials and Methods: Using multiple clinical scenarios, we asked women via an online survey about the early detection of several well‐described genetic phenotypes in pregnancy that in theory could be detected by expanded NIPT. Results: Two hundred and nineteen women participated in this study. There was high support for early diagnosis and the option for termination of pregnancy in conditions perceived as severe (52–71%). Women expressed a preference for testing to be provided by general practitioners and assigned a high value to genetic counselling support (75–90%). In the case of a continuing pregnancy, women recognised the essential role of ongoing psychosocial counselling for family members and childhood early intervention programs. Conclusion: Women expressed clear preferences for termination of pregnancy for severe conditions and as early in gestation as feasible. Information and support from genetic counsellors are a highly valued resource in decision‐making following a prenatal diagnosis of a fetal genetic abnormality. [ABSTRACT FROM AUTHOR]

Distinguishing between urinary bladder varices and retroplacental neovascularization in placenta accreta spectrum in high‐risk patients with placental previa is a diagnostic challenge since they have similar appearances on prenatal ultrasound. Placenta accreta spectrum is associated with massive obstetric haemorrhage while the presence of urinary bladder varices in pregnancy poses a lower surgical risk. Since the clinical implications and management approach for both conditions are entirely different, false positive diagnoses have iatrogenic consequences. In this article, we share our experiences in differentiating these two phenomena on prenatal ultrasound supported by ultrasound and intraoperative images. [ABSTRACT FROM AUTHOR]

Background: Non‐invasive prenatal screening (NIPS) is being increasingly used by expectant parents. Much provision of this test in Australia is occurring in clinical settings where specialised genetic counselling is unavailable, such as general practice. Potential psychosocial consequences from this kind of prenatal genetic screening remain largely unexplored. Aims: To explore clinicians' experiences with NIPS for aneuploidy, their perspectives of the benefits and harms of NIPS, clinicians' information needs, and their perceptions of the needs of expectant parents. Materials and Methods: Qualitative, semi‐structured interviews with 17 health professionals (clinical geneticists, obstetricians, genetic counsellors and general practitioners) who request and counsel for NIPS in Australian hospital and private practice settings, conducted between June 2019 and February 2020. Results: Five themes were identified relating to clinicians' perceptions and experiences of NIPS in their practice: perceived benefits of NIPS, perceived harms of NIPS (with two subthemes: clinical harms and psychosocial harms), financial and equity‐related concerns, counselling as a protective buffer against perceived harms, and clinicians' unmet education needs. While clinicians view NIPS as a useful and high‐quality screening test, especially for detection of common trisomies, many participants had concerns about how NIPS has been implemented in practice, particularly the quality (and often absence) of pre‐/post‐test counselling and the routinisation of testing for sex chromosome aneuploidies, microdeletion and microduplication syndromes. Conclusion: These findings support the need for targeted clinician training around NIPS, and for a shared decision‐making approach to support expectant parents' autonomous decisions about NIPS. [ABSTRACT FROM AUTHOR]

Background: There are concerns about the capacity of healthcare providers to adequately counsel women on the implications of noninvasive prenatal screening (NIPS). Studies suggest that more resource‐efficient counselling methods are needed for broad adoption. Aims: We prospectively examined the effectiveness of alternative methods of prenatal counselling on a patient's knowledge and understanding of prenatal testing choices, with a focus on NIPS. We also evaluated prenatal test choice and emotional well‐being after making this decision. Methods: Women from a low socio‐economic population were offered NIPS at no additional cost along with typical prenatal screening and diagnosis. Study participants underwent prenatal counselling via a web‐based video consultation or a telephone consultation with a genetic counsellor. Participants were asked to complete pre‐counselling and post‐counselling questionnaires. Results: Of 1000 women enrolled, 600 completed both surveys in full and were included in the analysis. Of these, 354 (59%) underwent counselling via a telephone consultation and 246 (41%) via the web‐based video consultation. Both counselling methods led to a significant increase in patient knowledge (P < 0.01). NIPS uptake was equivalent between groups. Patients expressed a high level (90%) of satisfaction with their prenatal screen choice, with no significant difference (P > 0.10) between telephone and web participants. Conclusions: Alternative methods of counselling such as a web‐based education portal can be highly effective and should be considered to enable informed decision‐making prior to undergoing prenatal screening such as NIPS. Further, web‐based education tools could be beneficial for those in rural areas with limited access to healthcare providers and non‐native speakers. [ABSTRACT FROM AUTHOR]

Background: In Australia, using non‐invasive prenatal testing (NIPT) to screen for fetal abnormalities is becoming more commonplace. However, there is a lack of standardised procedures surrounding pre‐test counselling. This holds the potential for variability in pregnant people's experiences when undergoing NIPT, which subsequently may impact their ability to make informed decisions surrounding NIPT results. Aim: This study sought to characterise the experiences of Australian women undergoing NIPT, including perceptions of informed choice, counselling experiences and decision to undergo NIPT. Materials and Methods: Australian women who had been recently pregnant (n = 94) completed an online survey which assessed: their knowledge of and attitude toward NIPT; satisfaction with counselling; satisfaction with their decision; and decisional conflict to undergo NIPT. The survey also allowed participants to provide qualitative information about their counselling experience and reasons for undergoing NIPT. Results: Overall, participants had good knowledge of and positive attitudes toward NIPT, experienced low decisional conflict and were overall satisfied with their counselling experience and decision to undergo NIPT. However, some participants expressed dissatisfaction with the lack of information provided, and biased language, by counselling providers. The desire to be informed was the most frequent reason for undergoing NIPT. Conclusion: The provision of accurate and objective information in pre‐test counselling is important to reduce decisional conflict and improve satisfaction with the decision to undergo NIPT. It is recommended counselling providers present pregnant people with neutral, objective, and accurate information at the time of pre‐test counselling. [ABSTRACT FROM AUTHOR]

Maternal alloimmunisation against red blood cell antigens can cause haemolytic disease of the fetus and newborn (HDFN). Although most frequently caused by anti‐D, since the implementation of rhesus D (RhD) immunoglobulin prophylaxis, other alloantibodies have become more prevalent in HDFN. Recent advances in non‐invasive prenatal testing (NIPT) have allowed early prediction of HDFN risk in alloimmunised pregnancies and allow clinicians to focus health resources on those pregnancies that require intervention. This article aims to provide updates on the current status of NIPT in Australia as both a diagnostic and screening tool in pregnancy. [ABSTRACT FROM AUTHOR]

Background: Perinatal mental ill‐health is a global health priority. Mental health screening during pregnancy is a routine part of clinical practice in many public hospital obstetric services across Australia, but implementation in the private hospital system has lagged. Aims: This study explored health professionals' perspectives on the Pre‐admission Midwife Appointment Program (PMAP), an antenatal mental health screening program at the Mater Hospital, Sydney. Materials and Methods: Nine midwives and three medical specialists participated in focus groups or individual interviews; key themes were determined using thematic qualitative analysis. Results: Five major themes and three sub‐themes were identified: immediate benefits to women (identifying women at risk; referrals to support services; supporting and educating women); enhanced overall quality of care at the hospital; the dilemma of partners attending; factors that make the program successful; and recommendations for improvement. Conclusions: Results will inform the implementation of antenatal mental health screening programs at other private hospitals across Australia. [ABSTRACT FROM AUTHOR]

Background: Couples who receive a prenatal diagnosis of a fetal anomaly in Victoria, Australia, are generally offered a choice about whether or not to continue with the pregnancy. When a severe or 'lethal' abnormality is diagnosed, some couples decide to continue the pregnancy in the knowledge that their baby may die before or shortly after birth. Several Australian parents who published personal accounts of that experience describe a lack of clear clinical pathways, suggesting those who decide to continue a pregnancy following a diagnosis of a 'lethal fetal abnormality' (LFA) may not be receiving optimal care. Aims: This study aimed to provide empirical Australian evidence of views and experiences of care provision from health professionals (HPs) and parents. Materials and Methods: Two sequential phases of this qualitative study purposively recruited a range of key HPs and parents. Semi‐structured interviews were thematically analysed. Results: Findings reveal that current care provision following prenatal diagnosis of an LFA is 'ad hoc' with both participant groups identifying disparities between parents' needs and available care. However, the goodwill and good intentions of all HPs involved was apparent. There was strong support from both groups for considering a model of perinatal palliative care (PPC) based on existing programs overseas. Conclusions: Future care provision in this setting needs to be redefined. A formal PPC program could ensure better and more consistent experiences of support for parents as well as the HPs working in the field. [ABSTRACT FROM AUTHOR]

Background: Small for gestational age (SGA) is a major determinant of poor perinatal outcome. Detecting SGA at term using ultrasound is challenging and we often plan birth based on clinical assessment. Aims: To determine the incidence of SGA infants with birthweight <10th centile among women undergoing planned birth at term for suspected SGA despite a normal estimated fetal weight (EFW) on ultrasound at 35–37 weeks. Materials and Methods: We performed a retrospective study including all women with a fetal growth ultrasound at ≥35 weeks reporting an EFW ≥ 10th centile (appropriate for gestational age, AGA) who subsequently had an induction of labour or caesarean birth at ≥37 weeks due to ongoing clinical suspicion of SGA between 2012–2014. The primary outcome was the incidence of SGA newborns using customised centiles. Results: There were 532 women who had a planned birth for clinical suspicion of SGA during the study period. Of these, 205 (38.5%) had an AGA fetus on ultrasound ≥35 weeks but were subsequently delivered because of a persisting clinical suspicion of SGA on abdominal assessment. Sixty‐eight percent (n = 139/205) delivered an SGA infant. Furthermore, almost half of these SGA infants (47.5%) had a birthweight <3rd centile. Neonatal outcomes were worse for the SGA infants, with 15.1% (n = 21/205) requiring special care nursery compared to 1.5% (n = 1/205) of those AGA at birth. Conclusions: A reassuring ultrasound with EFW ≥10th centile in the late third trimester should not override clinical concerns of impaired fetal growth at term. [ABSTRACT FROM AUTHOR]

Background: Non‐invasive prenatal testing (NIPT) has been available in Australia on a user‐pays basis since 2012. Since its introduction, it has grown in popularity as a screening method for fetal aneuploidy and may become publicly funded. Aims: To assess the motivations and experiences of women who have undergone NIPT in a user‐pays system in Australia. Materials and methods: One thousand women who had undergone NIPT through the Victorian Clinical Genetics Services in Melbourne, Australia were contacted and asked to complete a mixed‐methods survey. The number of eligible responses received was 235. Quantitative data analysis was performed in STATA IC 15.1, and qualitative data were examined using content analysis. Results: Women reported generally positive experiences with NIPT and 95% of respondents indicated they would undergo NIPT in a future pregnancy. Most respondents received a low‐risk result, with 2.2% receiving a high‐risk result. Respondents viewed NIPT favourably compared to invasive testing and cited reassurance as a key reason they sought it. However, a small minority of women reported negative experiences with the testing process. Women were also supportive of NIPT becoming publicly funded, with 93% of respondents indicating support. Pre‐ and post‐test counselling were identified as possible areas for improvement to ensure informed consent. Conclusion: In support of the existing literature, these results indicate that Australian women generally report positive experiences with NIPT. As NIPT becomes more common, with possible integration into public healthcare, further qualitative research would be valuable to examine the motivations and experiences of women undergoing NIPT. [ABSTRACT FROM AUTHOR]

The records of women attending a large Australian regional hospital for antenatal care were retrospectively analysed to determine what proportion had undergone or been offered first trimester screening for fetal abnormalities; only 609 (54%) of 1114 women had undergone or been offered screening. Younger women, multiparous women and women living in rural Australia were less likely to be offered screening. Barriers to screening and solutions for overcoming these need to be identified to improve access and equality in antenatal screening for all women. [ABSTRACT FROM AUTHOR]

Background: Persistent right umbilical vein (PRUV) is usually an isolated finding but it may be accompanied by other fetal malformations. Aims: We aimed to determine the incidence of prenatally diagnosed PRUV in a referral population, assess the neonatal outcome and discuss the findings together with those from previous publications. Materials and methods: A total of 2360 women with low‐risk singleton pregnancies were examined in the second and third trimesters. A transabdominal convex volume transducer was used. B‐mode was applied in each patient. Scanning of the venous system included imaging of the target vessels with two‐dimensional colour Doppler mapping. The diagnosis of PRUV was made in a transverse section of the fetal abdomen. Three‐dimensional ultrasounds were performed as necessary, when anomalous cases were encountered. Results: The incidence of PRUV in our population was 12/2360 = 0.5%, and it was higher than in other retrospective studies. In 75% (n = 9), PRUV was an isolated finding where delivery was uneventful and the postnatal outcome was favourable. In two cases PRUV was accompanied by omphalocele, and in one case by tetralogy of Fallot and single umbilical artery. Conclusions: PRUV is an uncommon prenatal finding. Screening for this anomaly can be easily performed in all pregnant patients. A diagnosis of PRUV should be followed by a thorough fetal morphology scan in order to exclude any other malformations, especially those of the cardiovascular system. [ABSTRACT FROM AUTHOR]

Background: Advances in technology can bring great benefits to human health, but their implementation may be influenced by socioeconomic factors, particularly in the field of prenatal screening for Down syndrome. Aim: To analyse screening test indications for, and diagnostic yield of, invasive prenatal diagnostic testing (PNDx) according to socioeconomic status. Methods: Retrospective analysis of population‐based data on PNDx and karyotype results for 2014–2015 in the Australian state of Victoria. Women having PNDx < 25 weeks due to combined first trimester screening (CFTS), second trimester serum screening (STSS), or noninvasive prenatal testing (NIPT) results were included. PNDx data were analysed by indication and maternal Index of Relative Socio‐economic Advantage and Disadvantage (IRSAD), the latter determined by postcode. Results: There were 145 206 births in 2014–2015; 1906 women underwent PNDx for the indication of CFTS (70.1%), NIPT (17.8%) or STSS (12.0%). Covariates positively associated with NIPT‐indicated PNDx, compared with CFTS‐indicated testing, were residence in a region of socioeconomic advantage, metropolitan status and maternal age. Women from the most advantaged regions had higher adjusted odds ratios (aOR) of NIPT‐indicated testing compared with women from disadvantaged regions (aOR 5.72, 95% CI: 2.95–11.09). The diagnostic yield of PNDx increased with socioeconomic region, from 14% in the lowest IRSAD quintile to 31.2% in the highest (P < 0.0001). Conclusion: Population‐based data reveal significant disparities in screening indications for PNDx and hence, in diagnostic yield, according to socioeconomic region. This finding may have ethical and policy implications for prenatal screening in Australia. [ABSTRACT FROM AUTHOR]

Cell‐free DNA screening has quickly become established in Australia as an accurate – albeit costly – prenatal screening test for trisomy 21, 18 and 13. It is also commonly used for the detection of sex chromosome abnormalities. The increasing number of prenatal screening pathways available to women has increased the complexity of pretest counselling. Concurrent advances in diagnostic testing with the widespread use of chromosomal microarrays create further challenges for the continuing education of clinicians and health consumers. This article aims to answer common clinical questions in this rapidly evolving field and complements the recently updated Royal Australian and New Zealand College of Obstetricians and Gynaecologists Statement on Prenatal Screening for Fetal Chromosome and Genetic Conditions. [ABSTRACT FROM AUTHOR]

Background Fetal megacystis is a sonographic feature that may be indicative of several underlying pathologies. Despite advances in diagnosis and management, the overall prognosis of affected fetuses remains poor and about 50% of such pregnancies are terminated. Aims To define the frequency, management, survival and renal outcomes of fetal megacystis over nine years at Wellington Hospital, New Zealand. Materials and Methods A nine-year retrospective review of fetuses with an antenatal diagnosis of megacystis was undertaken. Results Sixteen cases were identified (nine live births, five terminations and two perinatal deaths). This gives an observed frequency of one per 940 fetuses scanned. Two-thirds of the live births have survived and been followed for a mean of 5.3 years. None have required renal dialysis or transplantation to date. Conclusions The current series contributes to our knowledge of fetal megacystis and helps to inform antenatal counselling. Improved prognostic criteria are urgently required to accurately differentiate between fetuses with favourable versus poor outcomes. [ABSTRACT FROM AUTHOR]

Background Non-invasive prenatal testing ( NIPT) has been available in Aotearoa New Zealand ( NZ) for approximately four years. It is likely to be introduced into the publicly funded prenatal screening service. Aim To explore obstetrician use and views of NIPT, with consideration to its implementation into screening services for Down syndrome and other conditions. Methods An anonymous online survey combining Likert scales and free text was designed to assess current practice, knowledge, ethical considerations, counselling and views toward public funding of NIPT. The survey was distributed through the New Zealand members of the Royal Australian and New Zealand College of Obstetricians and Gynaecologists ( n = 418) and responses collected over a two-month period in 2016. Results There were 134/418 (32.1%) respondents. Current knowledge influenced decisions to offer NIPT (70.3%, 85/121). Confidence in offering NIPT was: 'not at all' (0.8%, 1/128); 'a little' (7.03%, 9/128), 'somewhat' (16.4%, 21/128), 'quite' (40.6%, 52/128) and 'very' (35.2%, 45/128). A total of 83.5% (101/121) stated NIPT should be publicly funded and NIPT capability developed within NZ (89.1%, 106/119). More information and support on the provision of NIPT was called for. Conclusion There was strong support for public funding of NIPT, and for NIPT capability to be developed in NZ. The call for more training, education and support needs to be actioned in order to facilitate the introduction of NIPT into screening services. [ABSTRACT FROM AUTHOR]

Background In New Zealand ( NZ), Maori and Pacific women are less likely to complete prenatal screening for Down syndrome and other aneuploidies than other ethnic groups. Young women <20 have low rates of completed screening compared with women >20 years. Women living in deprived areas have lower completed screen rates than women living in more affluent areas. Combined first trimester screening has a superior sensitivity (85%) compared with second trimester screening (75%) for trisomy 21. The relative contribution of demographic factors to timing of screening uptake (first vs second trimester) has not previously been examined. Aim To evaluate the association of ethnicity, deprivation, District Health Board ( DHB) of domicile and maternal age with timing of prenatal screening (first vs second trimester) in pregnant women screened in NZ from 2010 to 2013. Methods and Materials Univariate logistic regression analyses were used to explore the association between timing of completed screening and each of ethnicity, deprivation index, DHB of domicile and maternal age. Multivariate logistic regression models were developed to calculate odds ratios ( OR) and 95% confidence intervals ( CI). Statistical analyses were performed using SAS v9.3 Results Of completed prenatal screens, 88% were completed in the first trimester. Ethnicity, age, deprivation and DHB were all significant predictors of completed first versus second trimester screening. Maori women were almost 60% less likely (adjusted OR 0.37, CI 0.35-0.39) and Pacific women almost 80% less likely (adjusted OR 0.23, CI 0.21-0.24) than NZ European women to have completed first versus second trimester screening. Women <30 years were less likely to have completed first trimester screening, as were more deprived women. Variation was also seen by DHB with women living in Whanganui DHB less likely to have completed first versus second trimester screening than women living in Auckland (adjusted OR 0.76, CI 0.71-0.81). Women living in Bay of Plenty DHB were more likely to be screened in the first versus second trimester compared with women living in Auckland (adjusted OR 1.55, CI 1.38-1.74). Within Auckland itself, women living in Counties Manukau DHB were less likely to be screened in the first versus second trimester than women living in Auckland DHB even after adjusting for ethnicity, deprivation and maternal age. Conclusion Maori and Pacific women have the lowest uptake of completed first versus second trimester screening after adjusting for age, deprivation and DHB. Research is required to understand if this relates to characteristics of the carer making the offer of screening, language and/or cultural barriers to care or specific collective cultural or religious views held by women from these ethnicities. The lower completed first trimester versus second trimester prenatal screening in deprived areas, as well as variation by DHB, may relate to the availability of ultrasound and/or laboratory services in specific regions. Cost may be a contributing factor to inequity in timing of completed prenatal screening uptake, as first trimester screening incurs a part-charge to the individual, while second trimester screening is fully funded. Systemic factors within the NZ maternity model of care may also be contributory with a potential disconnect occurring for the woman between primary medical care and later registration with a Lead Maternity Carer in the first trimester. [ABSTRACT FROM AUTHOR]

Background Contingent screening for trisomy 21 using non-invasive prenatal testing has the potential to reduce invasive diagnostic testing and increase the detection of trisomy 21. Aim To describe the diagnostic and economic performance of prenatal screening models for trisomy 21 that use non-invasive prenatal testing as a contingent screen across a range of combined first trimester screening risk cut-offs from a public health system perspective. Methods Using a hypothetical cohort of 300 000 pregnancies, we modelled the outcomes of 25 contingent non-invasive prenatal testing screening models and compared these to conventional screening, offering women with a high-risk (1 > 300) combined first trimester screening result an invasive test. The 25 models used a range of risk cut-offs. High-risk women were offered invasive testing. Intermediate-risk women were offered non-invasive prenatal testing. We report the cost of each model, detection rate, costs per diagnosis, invasive tests per diagnosis and the number of fetal losses per diagnosis. Results The cost per prenatal diagnosis of trisomy 21 using the conventional model was $51 876 compared to the contingent models which varied from $49 309-66 686. The number of diagnoses and cost per diagnosis increased as the intermediate-risk threshold was lowered. Results were sensitive to trisomy 21 incidence, uptake of testing and cost of non-invasive prenatal testing. Conclusion Contingent non-invasive prenatal testing models using more sensitive combined first trimester screening risk cut-offs than conventional screening improved the detection rate of trisomy 21, reduced procedure-related fetal loss and could potentially be provided at a lower cost per diagnosis than conventional screening. [ABSTRACT FROM AUTHOR]

Background In recent years, the superior accuracy of maternal plasma cell-free DNA-based prenatal screening has resulted in >50% national decline in amniocenteses and chorionic villus sampling ( CVS), creating new implications for specialist training. Objective To compare the annual figures on amniocenteses and CVS in a tertiary hospital with national population-based trends between 2012 and 2015. Methods Retrospective study examining the amniocentesis and CVS procedures performed in a tertiary hospital between 2012 and 2015. Numbers of procedures, indications for testing, type of test and diagnostic results were analysed. Trends in the annual numbers of procedures were compared to national population-based data from Medicare Benefits Schedule database. Results The annual numbers of diagnostic procedures in our tertiary centre fell from 267 to 215 over the study period, representing a 19.5% decline. This was significantly smaller than the corresponding national decline of 53.7% for the same period ( P < 0.0001). In 2015, ultrasound abnormality (including nuchal translucency ≥ 3.5 mm) surpassed high-risk screening results as the most common indication for invasive testing. Thirty percent of procedures performed for an ultrasound abnormality occurred prior to 18 weeks gestation. Conclusion Our tertiary centre experienced a relatively smaller decline in prenatal diagnostic procedures compared with national figures, largely due to an increase in testing for ultrasound abnormalities. Our results demonstrate the increasing contribution of first trimester ultrasound in the detection of fetal abnormalities in the cell-free DNA era and the continued viability of specialist training in invasive procedures. [ABSTRACT FROM AUTHOR]

Background Screening for Down syndrome ( DS) is a key component of antenatal care, recommended to be universally offered to women irrespective of age or background. Despite this, the diagnosis of DS is often not made until the neonatal period. Aims To retrospectively describe and compare the differences in populations with an antenatal diagnosis ( AD) and neonatal diagnosis ( ND) of DS and to explore why an antenatal diagnosis was not made. Materials and methods The cohorts were women cared for at Westmead Hospital whose pregnancy received a diagnosis of DS between 2006 and 2015. The demographic variables of the AD and ND cohorts were examined and reasons why an antenatal diagnosis was not made in the ND cohort were analysed. Results There were 127 diagnoses of DS in the 10-year period, of which 41% were in the ND cohort ( n = 52) and 59% in the AD ( n = 75). Declaring a religious affiliation rather than Nil Religion was significantly more common in the ND cohort (88.5%) and especially the ND sub-cohort who declined DS screening/testing (95.8%) than the AD cohort (72%, P < 0.05). Women who were not offered screening were significantly younger ( P < 0.001) than those who were, with 69% and 20% being ≤30 years, respectively. Conclusions The proportion of DS pregnancies diagnosed in the antenatal period in western Sydney could be increased by ensuring younger women are not falsely reassured that DS screening is unnecessary for them. While religious affiliation may be a factor when women decline screening, ensuring appropriate counselling remains important. [ABSTRACT FROM AUTHOR]

Background Gastroschisis is the most common major congenital anomaly managed by paediatric surgeons. The significance of certain associated antenatal ultrasound features in determining fetal outcome is under discussion. Aim The study aims to define if associated antenatal ultrasound features of gastroschisis are useful prognostic markers for fetal outcome. By establishing the significance of features, including extra- and intra-abdominal bowel dilatation, stomach herniation, stomach dilatation, bowel matting, growth restriction, abnormal umbilical artery (UA) Doppler ultrasounds, and abnormal amniotic fluid volume, it is hoped clinicians will have enhanced ability to counsel parents about the likely outcomes for their infant. Materials and Methods Retrospective analysis of ultrasound images, reports and medical records of 101 pregnancies affected by fetal gastroschisis managed by the Royal Brisbane and Women's Hospital Maternal and Fetal Medicine Department over a 13 and a half year period was performed. The presence of ultrasound features during antenatal surveillance corresponded to fetal outcome measures, including the diagnosis of postnatal complex gastroschisis, the number of operations required, length of parenteral feeding and length of stay in neonatal intensive care. Results The only statistically significant predictor of complex cases of gastroschisis was extra-abdominal bowel dilatation. Although a statistically significant feature, approximately three-quarters (44/59) of all infants with gastroschisis with associated extra-abdominal bowel dilatation had simple gastroschisis. Conclusions Extra-abdominal bowel dilatation is a statistically significant marker of complex gastroschisis and associated morbidity. Its presence in infants who had uncomplicated outcomes, suggests that clinically, its usefulness in antenatal counselling is still debatable. [ABSTRACT FROM AUTHOR]

Background Advances in genetic technologies and ultrasound screening techniques have increased the ability to predict and diagnose congenital anomalies during pregnancy. As a result more prospective parents than ever before will receive a prenatal diagnosis of a fetal abnormality. Little is known about how Australian women and men experience receiving a prenatal diagnosis and how they make their decision about whether or not to continue the pregnancy. Aims This qualitative study aims to describe parental experiences and examine how best to provide support after a prenatal diagnosis. Results Individual in-depth interviews were conducted with 102 women and men approximately six weeks post-diagnosis of fetal abnormality. Data were elicited using a narrative, chronological approach and women ( n = 75) and a sample of male partners ( n = 27) were separately interviewed. Thematic analysis, involving a rigorous process of qualitative coding, enabled iterative development and validation of emergent themes. Participants identified that the shock of the diagnosis can be lessened when good care is delivered, by provision of: clear, accurate and respectful communication; empathic, non-judgemental, professional support; timely access to further testing and appointments; seamless interactions with services and administration; appropriate choices about invasive testing; acknowledgment of the enormity and unexpected nature of the diagnosis, and of the subsequent decision-making challenges; and discussion of the myriad feelings likely to emerge throughout the process. Conclusions This study has demonstrated the importance of providing timely access to accurate information and supportive, non-judgemental care for women and their partners following prenatal diagnosis of a fetal abnormality. [ABSTRACT FROM AUTHOR]

Background There are limited data regarding noninvasive prenatal testing ( NIPT) in low-risk populations, and the ideal aneuploidy screening model for a pregnant population has yet to be established. Aims To assess the implementation of NIPT into clinical practice utilising both first- and second-line screening models. Materials and Methods Three private practices specialising in obstetric ultrasound and prenatal diagnosis in Australia offered NIPT as a first-line test, ideally followed by combined first-trimester screening ( cFTS), or as a second-line test following cFTS, particularly in those with a calculated risk between 1:50 and 1:1000. Results NIPT screening was performed in 5267 women and as a first-line screening method in 3359 (63.8%). Trisomies 21 and 13 detection was 100% and 88% for trisomy 18. Of cases with known karyotypes, the positive predictive value ( PPV) of the test was highest for trisomy 21 (97.7%) and lowest for monosomy X (25%). Ultrasound detection of fetal structural abnormality resulted in the detection of five additional chromosome abnormalities, two of which had high-risk cFTS results. For all chromosomal abnormalities, NIPT alone detected 93.4%, a contingent model detected 81.8% ( P = 0.097), and cFTS alone detected 65.9% ( P < 0.005). Conclusions NIPT achieved 100% T21 detection and had a higher DR of all aneuploidy when used as a first-line test. Given the false-positive rate for all aneuploidies, NIPT is an advanced screening test, rather than a diagnostic test. The benefit of additional cFTS was the detection of fetal structural abnormalities and some unusual chromosomal abnormalities. [ABSTRACT FROM AUTHOR]

Objective To provide data on how screen-positive and detection rates of first trimester prenatal screening for fetal Down syndrome vary with changes in the risk cut-off and maternal age to inform contingency criteria for publicly funded noninvasive prenatal testing. Materials and Methods First trimester screening and diagnostic data were collected for all women attending for first trimester fetal aneuploidy screening in Western Australia between 2005 and 2009. Prenatal screening and diagnostic data were linked to pregnancy outcomes, including data from the Midwives' Notification System and the Western Australian Registry of Developmental Anomalies. The prevalence of Down syndrome and performance of screening by risk cut-off and/or for women >35 years were analysed. Results The current screening risk cut-off of 1:300 has screen-positive and detection rates of 3.5% and 82%. The screen-positive rate increases by 0.7-0.8% for each 100 point change in risk, up to 19.2% at 1:2500 (96% detection rate). Including all women >35 years as screen positive would increase the screen-positive rate and detection rates to 30.2% and 97.2%. Conclusion Variation in screening risk cut-off and the use of maternal age to assess eligibility for noninvasive testing could significantly impact the demand for, and cost of, the test. A contingent first trimester screening approach for risk assessment is superior to the use of a combination of screening and maternal age alone. These data will inform decisions regarding the criteria used to determine eligibility for publicly funded noninvasive prenatal testing. [ABSTRACT FROM AUTHOR]

Background: Numbers of invasive prenatal procedures are declining in response to improved aneuploidy screening methods. Objective: To assess current practice and attitudes of clinicians performing invasive prenatal diagnosis in regard to patient consent and safety, maintaining procedural competence and uptake of chromosomal microarrays (CMAs). Methods: Anonymous online survey of the Australian Association of Obstetrical and Gynaecological Ultrasonologists conducted in March 2015. Results: The survey had a 45% response rate with 59 respondents from Australia. Of these, 34 were subspecialists in maternal fetal medicine or obstetric and gynaecological ultrasound. Fifty-six (95%) currently performed amniocentesis or chorionic villus sampling. Of these, 14 (25%) performed <25 procedures and 8 (14%) performed >150 annually, with most respondents (60%) proposing 10-25 amniocenteses/year as adequate activity to maintain their skills. The majority neither expected referrers to provide results of hepatitis B and HIV serology, nor followed up missing results. There was uncertainty regarding the procedure-related vertical transmission risk of HBV in women with high viral load, with most respondents stating they were either unsure of the risk (22%) or that the risk was unknown (30%). Fifty per cent of practitioners routinely ordered CMA after invasive testing; all recommended CMA following a diagnosis of structural abnormality. Conclusions: In a period of declining testing, many Australian specialists are performing <25 procedures annually. Consideration of the potential risks of bloodborne viruses is limited. CMAs are rapidly being incorporated into clinical practice. These data have implications for patient consent and safety, and workforce training and practice. [ABSTRACT FROM AUTHOR]

Background: There is a growing body of evidence that most of the major cardiac abnormalities can be diagnosed at 14-15 weeks of gestation. We present our experience of early fetal echocardiography. Materials and Methods: This is a retrospective cohort study of women referred for early fetal echocardiography at 13-16 weeks of gestation at Royal Prince Alfred Hospital and Sydney Ultrasound for Women between August 2011 and March 2014. Findings of early fetal echocardiography, details of subsequent ultrasound examinations and pregnancy outcome were recorded. Results: Early fetal echocardiography was performed in 400 euploid fetuses at a mean gestational age of 15+2 weeks. 85% of women were referred for increased nuchal translucency. 383/400 (96%) women had both normal early and late fetal echocardiograms 15/400 (3.7%) were found to have a cardiac defect at early fetal echocardiography, including 14 major and one minor abnormality. Two additional minor cardiac defects were diagnosed at later antenatal ultrasounds. One case, defined as being normal antenatally, was found to have a minor cardiac abnormality post-natally. Eight (57%) women whose fetus had a major cardiac defect chose to terminate the pregnancy. In the pregnancies that continued, the sensitivity and specificity for major cardiac defects was 100%, 95% CI (0.98-1.00). Conclusion: Early fetal echocardiography is feasible and highly sensitive and specific in experienced hands. The high specificity facilitates early reassurance of those women assessed at increased risk for fetal cardiac malformations. [ABSTRACT FROM AUTHOR]

An introduction to the journal is presented on topics including aspects of the efficient and responsible integration of non-invasive prenatal testing with cell-free DNA into the Australian healthcare setting; obstetric care; and prenatal diagnostic testing.

Aim To describe the potential impact of using noninvasive prenatal testing ( NIPT) as a second-tier test, on the diagnosis and outcomes of pregnancies identified as high risk through first trimester screening ( FTS) in a cohort of real pregnancies. Materials and Methods Western Australian FTS and diagnostic data (2007-2009) were linked to pregnancy outcomes. Karyotype results from invasive prenatal testing in high-risk women were analysed. The outcomes of abnormal results that would not be detected by NIPT, assuming a panel of trisomy 21/18/13 and sex chromosome aneuploidies, and the likelihood of diagnosis in a screening model using NIPT as a second-tier test are described. Results Abnormal karyotype results were reported in 224 of 1488 (15%) women with high-risk pregnancies having invasive diagnostic testing. NIPT potentially would have identified 85%. The 33 abnormalities unidentifiable by NIPT were triploidies ( n = 7, 21%), balanced ( n = 8, 24%) and unbalanced rearrangements ( n = 10, 30%) and level III mosaicisms ( n = 8, 24%). For conditions not identifiable by NIPT, fetal sonographic appearance was likely to have led to invasive testing for 10 of 17 (59%) pathogenic abnormalities. If a policy was adopted recommending invasive testing for FTS risk >1:50 and/or ultrasound detected abnormality, the residual risk of an unidentified pathogenic chromosomal abnormality in those without a diagnosis would have been 0.33% (95% CI 0.01-0.65%). Conclusions A screening model with NIPT as a second-tier for high-risk pregnancies would be unlikely to have changed the outcome for the majority of pregnancies. Optimising the diagnosis of rare pathogenic abnormalities requires clear indicators for invasive testing over NIPT. [ABSTRACT FROM AUTHOR]

Background There is no clear consensus on whether antenatal screening for hepatitis C ( HCV) should be universal, or based on an assessment of risk factors. Aim To report the HCV status and risk factors for HCV amongst women delivering at a tertiary metropolitan hospital in order to better understand the implications of changing from universal to risk factor based HCV screening. Materials and Methods An audit of practice was performed at Mater Mothers' Hospitals (Brisbane) using routinely collected data from 2007 to 2013 ( n = 57,659). The demographic and clinical characteristics of HCV-positive women ( n = 281) were compared with those with a negative result ( n = 57,378), and compared for the presence or absence of risk factors for HCV. Results From a cohort of 57,659 women, 281 (0.5%) women were HCV positive. HCV-positive women were more likely to have received blood products (10.0 vs 3.1%; P < 0.001), have a history of illicit drug use (72.2 vs 9.8%; P < 0.001), and have at least one risk factor for HCV infection (92 vs 17%; P < 0.001). Of the HCV-positive women, only seven of the 281 (2.5%) had no identifiable risk factor, whilst most (83%) HCV-negative women did not have any documented risk factor for HCV infection. Conclusion Most women testing positive for HCV antibodies have identifiable risk factors; however, a small number will not be detected if a risk factor based screening approach is adopted. The benefits of universal screening must be weighed against the potential cost savings of a risk factor based screening program. [ABSTRACT FROM AUTHOR]

Background Cell-free DNA-based non-invasive prenatal testing for aneuploidy ( NIPT) is now established as the most accurate screening test for trisomy 21. This test became clinically available on a patient-funded basis in Australia and New Zealand in 2013. Aim To investigate the clinical implementation of NIPT use by members of the Australian Association of Obstetrical and Gynaecological Ultrasonologists ( AAOGU) during its first year of local availability. Method Email invitations with an embedded link to an anonymous online survey were sent to all 140 members of the AAOGU in December 2013. Results We received 54 responses to the survey (39% response rate). Two thirds of respondents were subspecialists in obstetric and gynaecological ultrasound or maternal fetal medicine. The majority of respondents had already used NIPT in their practice (94%). There was no significant difference in the proportion of respondents offering NIPT to high-risk women in private versus public practice (95 versus 82%, P = 0.14). However, inequity of access due to cost was the most common ethical issue encountered. The vast majority continued to offer an 11-13 week ultrasound in addition to NIPT. Almost all respondents (96%) were also willing to offer NIPT to low-risk women in December 2013 after appropriate genetic counselling. Conclusions Non-invasive prenatal testing was introduced into clinical care by obstetric sonologists with confidence and in accordance with the current recommended guidelines. These results may help inform future prenatal screening policy and cost-effectiveness analyses. [ABSTRACT FROM AUTHOR]

Aims To describe prenatal and preconception population carrier screening for cystic fibrosis ( CF) in Australia and consider progress towards establishing a universal program. Method Medline and Embase databases (1989-2013) were searched for all publications with Australian data. Existing programs for CF carrier screening in Australia were reviewed and professional peak body websites accessed to determine recommendations. Results Twenty-two studies met the inclusion criteria. Key stakeholder groups believe that prenatal and preconception carrier screening for CF should be available. Health-economic analyses support that CF carrier screening can be cost-effective. There are small programs for CF carrier screening, in Victoria, New South Wales and Queensland. The Human Genetics Society of Australasia ( HGSA) specifically recommend that screening be offered to women and couples planning a pregnancy and in the early stages of pregnancy. Other peak bodies indirectly endorse the availability of CF carrier screening. Barriers to screening include not being offered screening, the cost of testing, inequity of access and an incorrect perception that not having a family history of CF lowers risk. Conclusions There is support for prenatal and preconception CF carrier screening by the community, health professionals and peak professional bodies in Australia. The barriers to development of a national screening program could be overcome with greater physician engagement and government support. Implications In the interest of equity, government funded testing should be routinely offered to all pregnant women and couples planning a pregnancy. [ABSTRACT FROM AUTHOR]

The article focuses on Royal Australian and New Zealand College of Obstetricians and Gynaecologists recommends that all pregnant women are offered prenatal screening for fetal trisomies as combined first trimester screening or non-invasive prenatal screening. Topics include the women receiving high‐risk prenatal screening results are offered invasive diagnostic tests, and the women in Far North Queensland giving birth in Cairns Hospital had not been offered prenatal screening.

An introduction is presented in which the editor discusses various reports within the issue on topics including advancement in the screening methods for Down syndrome (DS), its diagnosis, and experience of invasive testing.

Background Currently, noninvasive prenatal testing ( NIPT) is only recommended in high-risk women following conventional Down syndrome ( DS) screening, and it has not yet been included in the Australian DS screening program. Aims To evaluate the cost-effectiveness of different strategies of NIPT for DS screening in comparison with current practice. Methods A decision-analytic approach modelled a theoretical cohort of 300,000 singleton pregnancies. The strategies compared were the following: current practice, NIPT as a second-tier investigation, NIPT only in women >35 years, NIPT only in women >40 years and NIPT for all women. The direct costs (low and high estimates) were derived using both health system costs and patient out-of-pocket expenses. The number of DS cases detected and procedure-related losses ( PRL) were compared between strategies. The incremental cost per case detected was the primary measure of cost-effectiveness. Results Universal NIPT costs an additional $134,636,832 compared with current practice, but detects 123 more DS cases (at an incremental cost of $1,094,608 per case) and avoids 90 PRL. NIPT for women >40 years was the most cost-effective strategy, costing an incremental $81,199 per additional DS case detected and avoiding 95 PRL. Conclusions The cost of NIPT needs to decrease significantly if it is to replace current practice on a purely cost-effectiveness basis. However, it may be beneficial to use NIPT as first-line screening in selected high-risk patients. Further evaluation is needed to consider the longer-term costs and benefits of screening. [ABSTRACT FROM AUTHOR]

Background Using a fixed cut-off of ≤25 mm, ultrasound assessment of cervical length during the 18-23 week anomaly scan has been shown to identify approximately 50% of pregnancies that would deliver prior to 34 weeks. Aim To determine whether a policy of reverting to transvaginal cervical assessment only if the cervix appears short (≤25 mm) on transabdominal assessment affects the efficiency of screening. Methods Women with a singleton pregnancy that presented for a routine anomaly scan had their cervical length assessed transabdominally, initially with the maternal bladder full ( TABF) and then empty ( TABE). Cervical length was then assessed transvaginally ( TV). Results One hundred and ninety-eight women agreed to participate in the study. Identification of the internal and external cervical os was possible during TABF, TABE and TV sonography in 97.0, 82.8 and 100%, respectively. Compared with TV sonography, TABF overestimates cervical length (6.1 mm difference in median values; P < 0.01). There was no significant difference between TV and TABE. However, TABE assessment was not possible in one in six women. If TABF sonography was to be used as a screening tool and using ≤25 mm as the critical cut-off, the sensitivity and specificity was 15.4 and 93.2%, respectively. Conclusion This study has shown that assessment of cervical length using a TA approach is only routinely possible when the bladder is full. However, measurements are significantly overestimated. Therefore, we feel that TV assessment of cervical length is the preferred method of reliable cervical assessment. As such, all women should be offered a TV assessment of cervical length at the time of the fetal anomaly ultrasound as a screening test for preterm birth. [ABSTRACT FROM AUTHOR]

Objectives To compare the accuracy of estimated fetal weight ( EFW) in extremely preterm small for gestational age ( SGA) and appropriate for gestational age ( AGA) infants and report other significant factors influencing the accuracy of EFW. Methods A retrospective cohort study of singleton pregnancies 22+0-27+6 weeks. Women were included in the study if an ultrasound scan had been performed within seven days of delivery, with no major fetal anomaly and data available to calculate customised birthweight ( BW) centiles. Mean error of EFW and actual BW and mean % error of EFW and actual birthweight were compared for SGA and AGA infants. A stepwise backward elimination linear regression model was used to determine the significant factors influencing the accuracy of EFW. Results A total of 134 cases (51 SGA and 83 AGA) were analysed. The mean gestational age at delivery was 25+2 weeks ( SD 11.5 days) and mean BW 711 g ( SD 227 g). Overall mean percentage error of EFW and actual BW was 8.8% (range 0-34.6%). There was a significant difference in mean error of EFW and actual BW for SGA and AGA deliveries (mean +16 g versus −23 g, respectively, P = 0.01) and in mean % error of EFW (11.2%, 95% CI 9.1-13.3 versus 7.4%, 95% CI 6.2-8.6 P = 0.009). Factors that significantly influenced the accuracy of EFW included SGA ( P = 0.001, coeff. = −3.73, 95% CI −5.94/-1.52), scan to delivery interval ( P = 0.02, coeff. = 0.66, 95% CI 0.12/1.21) and reduced amniotic fluid ( P = 0.008, coeff = 3.61, 95% CI −5.47/−0.85). Conclusions Ultrasonographic EFW for extreme preterm SGA fetuses is less accurate than AGA fetuses and is more likely to overestimate EFW. This should be considered when counselling women with growth restricted fetuses at the limits of viability. [ABSTRACT FROM AUTHOR]

Aims The main aim of this study was to determine the feasibility of using high-resolution microarray to assist with prenatal diagnosis of ultrasound-detected fetal abnormality and to describe the frequency of abnormal results in different categories of fetal anomalies. Methods Prospective cross-sectional study was conducted on women diagnosed with a fetal anomaly (ies) between February 2009 and December 2011 who were offered testing by microarray analysis ( Affymetrix 2.7M SNP) and fluorescent in situ hybridisation ( FISH) instead of standard karyotyping. Fetal anomalies were categorised according to organ system involvement. Results One hundred and eighteen women consented to testing with microarray. Eleven of one hundred eighteen (9.3%) cases had aneuploidy detected by FISH. Of the remaining 107, 23 (21.5%) had an abnormality detected on microarray, only three of which would have been detected using the combination of six-probe FISH and banded karyotype. The maximum expected yield for six-probe FISH and karyotype was thus 14/118 (11.8%), compared to 34/118 (28.8%), P < 0.0001. Of the 23 abnormalities detected with microarray, 10 (43%) were pathogenic, six (26%) were long continuous stretches of homozygosity and seven (30%) were of uncertain significance. The maximum yield was in cases with cardiovascular (100%); multiple (40%); central nervous system ( CNS) (25%) and skeletal (9%) abnormalities. Conclusion This study has confirmed the feasibility of translation of microarray into clinical practice. 11.8% (14/118) of the cases would have a genetic basis of an abnormality with a FISH and banded karyotype. This figure is approximately tripled to 28.8% (34/118) if we offer FISH and microarray. High yield for imbalances are multiple, cardiovascular, CNS and skeletal abnormalities. [ABSTRACT FROM AUTHOR]

Background The widespread use of assisted reproductive technologies has led to an increase in the prevalence of monozygotic twins. Twinning after blastocyst transfer results in monochorionic placentation; a form of placentation that is associated with higher risks of mortality and morbidity. Aims This study describes complication rates of monochorionic diamniotic ( MCDA) twin pregnancies and examines whether they differ between spontaneous and assisted conceptions. Methods A five-year retrospective review of 294 MCDA twin pregnancies that had no evidence of structural abnormality on ultrasound at 12 weeks' gestation. Outcomes of spontaneous and assisted conceptions Day 3 ( D3) cleavage stage embryo or Day 5 ( D5) blastocyst transfer) pregnancies were compared. Results Two hundred and eighteen (74.1%) MCDA twin pregnancies were conceived spontaneously, whilst 14 (4.8%) resulted from D3 cleavage stage embryo and 62 (21.1%) resulted from D5 blastocyst transfer. Fetal and whole pregnancy loss rates were high, affecting 11.4% and 8.8% of cases, respectively. 16.2% of pregnancies were delivered <32 weeks' and 66% <37 weeks' gestation. 36.2% of infants were small for gestational age and selective intrauterine growth restriction ( IUGR) affected 7.5% of pregnancies. There was no significant difference in the prevalence of complications between spontaneous and assisted conceptions. Conclusions Assisted conception with either D3 cleavage stage embryo or D5 blastocyst transfer does not increase the risk of complication in a MCDA twin pregnancy. Mortality in monochorionic twins remains high despite early recognition and heightened surveillance throughout pregnancy. Information describing the risks of monochorionic twinning and of subsequent complications may be of value to women undergoing assisted conception. [ABSTRACT FROM AUTHOR]

Objective To analyse the cost-effectiveness and performance of noninvasive prenatal testing ( NIPT) for high-risk pregnancies following first-trimester screening compared with current practice. Methods A decision tree analysis was used to compare the costs and benefits of current practice of first-trimester screening with a testing pathway incorporating NIPT. We applied the model to 32 478 singleton pregnancies screened between January 2005 and December 2006, adding Medicare rebate data as a measure of public health system costs. The analyses reflect the actual uptake of screening and diagnostic testing and pregnancy outcomes in this cohort. Results The introduction of NIPT would reduce the number of invasive diagnostic procedures and procedure-related fetal losses in high-risk women by 88%. If NIPT was adopted by all women identified as high risk by first-trimester combined screening, up to 7 additional Down syndrome fetuses could be confirmed. The cost per trisomy 21 case confirmed, including NIPT was 9.7% higher ($56 360) than the current prenatal testing strategy ($51 372) at a total cost of $3.91 million compared with $3.57 million over 2 years. Conclusion Based on the uptake of screening and diagnostic testing in a retrospective cohort of first-trimester screening in Western Australia, the implementation of NIPT would reduce the number of invasive diagnostic tests and the number of procedure-related fetal losses and increase the cost by 9.7% over two years. Policy planning and guidelines are urgently required to manage the funding and demand for NIPT services in Australia. [ABSTRACT FROM AUTHOR]

The term 'Non invasive prenatal testing' is used to describe the rapidly emerging molecular technologies related to cell free DNA assessment that are being applied to prenatal screening for Down syndrome and other chromosomal abnormalities. This technology is now available to Australian women through a number of off-shore laboratories. We review the basis of this method of testing, the literature describing the effectiveness of NIPT in screening for trisomy 21 and the potential methods by which this tool could be incorporated into current screening strategies. [ABSTRACT FROM AUTHOR]

Background: Congenital diaphragmatic hernia (CDH) is a potentially correctable anatomical defect that continues to represent a significant cause of stillbirth and neonatal death. Aims: To describe the outcomes of fetuses diagnosed antenatally with CDH. Methods: A retrospective cohort study of fetuses with CDH detected antenatally at our fetal medicine unit between January 1996 and December 2008. The study analyses factors associated with mortality in a setting where no fetal intervention for this condition is performed. Results: Eighty-six cases were identified and 75.5% of infants were born alive. Mortality prior to corrective surgery was 7%. The survival rate for babies born at term with isolated CDH was 83%. Presence of an additional anomaly, herniated liver and preterm delivery were associated with increased mortality. Seventy-four percent of liveborn infants with either isolated CDH or other anomalies survived to discharge. Conclusions: Although the overall mortality rate for this condition remains high, fetuses with isolated CDH born at term have relatively high survival rates. This study provides data for counselling parents in tertiary centres with advanced neonatal care but where antenatal intervention for this condition has not been introduced. [ABSTRACT FROM AUTHOR]

Introduction: Cystic fibrosis (CF) is the most common deleterious single-gene recessive disorder in non-Hispanic Caucasians. Mutations within the CF transmembrane receptor (CFTR) gene produce a variable phenotype, including pulmonary disease, pancreatic insufficiency, meconium ileus and infertility. Screening of antenatal/preconception patients to identify CFTR mutation carriers has been shown to reduce the incidence of CF-affected babies at birth. The application of preconception screening to assisted reproductive technology (ART) patients enables carrier couples a choice between prenatal screening and preimplantation genetic diagnosis (PGD). Aim: To screen patients entering an infertility clinic, for 30 common CFTR mutations, and to detect carrier patients prior to initiating assisted reproductive treatment. Method: DNA from 5600 infertility patients was screened using a PCR/OLA kit for 30 CFTR mutations. All identified carriers and carrier couples were offered genetic counselling. Prenatal testing and PGD for CFTR mutations were offered to carrier couples where appropriate. Results: A total of 5600 patients were screened for 30 CFTR mutations with 261 carriers being identified and at a significantly increased carrier rate of one in 21.5 (4.66% ± 0.55%). R117H/c.350G>A was significantly increased in this infertile population and accounted for 13.8% of all mutations identified. Twelve carrier couples were identified, and nine carrier couples had at least one cycle of PGD for CFTR mutations. Conclusion: The carrier rate of CFTR mutations is elevated in patients presenting for infertility treatment, and preconception screening should be encouraged in all patients entering ART clinics. [ABSTRACT FROM AUTHOR]

Fetomaternal or neonatal alloimmune thrombocytopenia (NAIT) is a rare but serious condition associated with significant fetal and neonatal morbidity and mortality. The most useful predictor of severe disease is a history of a sibling with an antenatal intracranial haemorrhage. However, NAIT can occur during the first pregnancy and may not be diagnosed until the neonatal period. Antenatal treatment options include maternal intravenous immunoglobulin (IVIG) and corticosteroid treatment, fetal blood sampling (FBS) and intrauterine platelet transfusion (IUT) and early delivery. FBS (with or without IUT) can be used to direct and monitor response to therapy, and to inform mode and timing of delivery. However, this procedure is associated with significant risks, including fetal death, and is generally now reserved for high-risk pregnancies. This review highlights the current understanding of the epidemiology and pathophysiology of NAIT and summarises current approaches to investigation and management. It also introduces the newly established Australian NAIT registry. Owing to the relative rarity of NAIT, accruing sufficient patient numbers for studies and clinical trials at an institutional level is difficult. This national registry will provide an opportunity to collect valuable information and inform future research on this condition. [ABSTRACT FROM AUTHOR]

Since the early 1980s, prenatal screening using ultrasound and biochemical markers has been used to refine the risk of Down syndrome and other fetal anomalies prior to considering fetal karyotyping. The performance of prenatal screening is subject to ongoing monitoring in Western Australia. The collection of these data can also assist in the identification of any potential inequities of access to prenatal screening within the state-wide programme. Prenatal screening data (2005-2006) were collected from accredited ultrasound and pathology laboratories in Western Australia. Screening data were linked to diagnostic and pregnancy outcome data. Performance characteristics of screening and uptake by socio-demographic characteristics were analysed. Complete screening data were collected for 35,142 of the estimated 38,081 women screened during 2005 and 2006. There were 59,999 births related to this screening period. The lowest uptake of screening was among women who were Aboriginal (14.9%), living in remote areas (38.0%), under the age of 25 (40.2%), in the lowest quintile of the SEIFA index (41.6%) and with three or more children (48.4%). Logistic regression analysis showed all socio-demographic factors to be strongly associated with screening behaviour, with adjustment for ethnicity, socio-economic status, age, parity and area of residence. Our results have important implications for the delivery of prenatal screening services in Western Australia. While the screening programme meets international and national performance standards, the disparities in screening uptake suggest inequity in access to services, particularly for Aboriginal, remote and socio-economically disadvantaged women. [ABSTRACT FROM AUTHOR]

An absent or short nasal bone is highly predictive of Down syndrome in Caucasian populations, but Asians may have shorter nasal bones - increasing the false positive rate of screening. We examine differences in nasal bone length (NBL) in Caucasian and Asian populations. This prospective cohort study involved pregnant women attending for their routine anomaly scan at 18-20 weeks' gestation. Ethnicity of the patient and their partner was recorded, and the nasal bone was measured three times. Mean NBL was calculated and used to investigate the effect of ethnicity first with a simple linear regression model and second with a mixed-effects regression model that accounted for variability of measurement between sonographers. A total of 1087 families were involved in the study, including 592 (54%) Caucasians, 214 (20%) East Asians, 110 (10%) South Asians and 171 (16%) West Asians. Twenty-three sonographers performed the scans with an average of 19 scans each. There is no significant difference in NBL between Caucasian and Asian populations. The mixed-effects model shows that accounting for sonographer variation is important, with 6.7% of the total variance in measurement being related to this random effect. There is no significant difference in NBL between Caucasian and Asian populations. It is reasonable to use criteria established in a Caucasian population to define the characteristics of an absent/short nasal bone in Asian fetuses. This finding also removes difficulties in counselling mixed race couples. [ABSTRACT FROM AUTHOR]