Obstetrics and Gynaecology - Research Publications
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ItemFetal fraction and noninvasive prenatal testing: What clinicians need to know(WILEY, 2020-01)The fetal fraction (FF) is a function of both biological factors and bioinformatics algorithms used to interpret DNA sequencing results. It is an essential quality control component of noninvasive prenatal testing (NIPT) results. Clinicians need to understand the biological influences on FF to be able to provide optimal post-test counseling and clinical management. There are many different technologies available for the measurement of FF. Clinicians do not need to know the details behind the bioinformatics algorithms of FF measurements, but they do need to appreciate the significant variations between the different sequencing technologies used by different laboratories. There is no universal FF threshold that is applicable across all platforms and there have not been any differences demonstrated in NIPT performance by sequencing platform or method of FF calculation. Importantly, while FF should be routinely measured, there is not yet a consensus as to whether it should be routinely reported to the clinician. The clinician should know what to expect from a standard test report and whether reasons for failed NIPT results are revealed. Emerging solutions to the challenges of samples with low FF should reduce rates of failed NIPT in the future. In the meantime, having a "plan B" prepared for those patients for whom NIPT is unsuccessful is essential in today's clinical practice.
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ItemMaternal and perinatal outcomes for women with body mass index ≥50 kg/m2 in a non-tertiary hospital setting(WILEY, 2020-06)BACKGROUND: Obesity is prevalent in the Australian antenatal population, but there are scarce data on the prevalence and associated outcomes of body mass index (BMI) ≥50 kg/m2 . AIMS: To examine the prevalence and outcomes for women with BMI ≥50 kg/m2 delivering in a non-tertiary hospital. MATERIALS AND METHODS: Retrospective cohort study of women delivering a singleton pregnancy in a non-tertiary Victorian hospital during 2011-2016. Women >180 kg were excluded as their care was managed in a tertiary centre. Maternal and perinatal outcomes were analysed by BMI group. Statistical analysis was performed using χ2 , Kruskal-Wallis and logistic regression with a significance level of 0.05. RESULTS: Of the 18 518 births between 2011 and 2016, 99.4% had a maternal BMI recorded. The prevalence of BMI ≥50 kg/m2 was 0.5%. Highest complication rates were observed among women with BMI ≥50 kg/m2 , including gestational diabetes (29%), hypertensive disorders of pregnancy (20%) and caesarean section (48%). Of infants born to women with BMI ≥50 kg/m2 , 12% were late-pre-term, 23% required special or intensive care and 20% had birth weight ≥4.0 kg. When compared with obese women with BMI 30-49 kg/m2 , women with BMI ≥50 kg/m2 were significantly more likely to develop a hypertensive disorder of pregnancy (preeclampsia adjusted odds ratio (aOR) 3.98 (1.93-8.18), pregnancy-induced hypertension aOR 3.55 (1.79-7.03)) and deliver a late pre-term infant (aOR 2.45 (1.31-4.58)). CONCLUSIONS: The prevalence of severe maternal obesity in our non-tertiary setting is higher than previous national estimates. Women with BMI ≥50 kg/m2 are an important subgroup of the obese obstetric population who experience high rates of complications and interventions. Health services need to respond to evolving needs of the antenatal population to achieve the best outcomes for mothers and babies.
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Item40 years of prenatal diagnosis in 2020(WILEY, 2020-12)
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ItemEvolution of fetal acrania from 7 to 10 weeks gestation(WILEY, 2020-12)
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ItemIdentification and management of congenital parvovirusB19infection(WILEY, 2020-12)Parvovirus B19 (B19V) infection is well known for its mild, self-limiting clinical presentations in children, such as erythema infectiosum. Approximately 40% of women of childbearing age are susceptible to B19V infection. While maternal B19V infection usually has a good prognosis, B19V can cause severe fetal anaemia and pregnancy loss due to its ability to suppress erythroid progenitor cells. Non-invasive ultrasound monitoring for fetal anaemia is usually performed if maternal seroconversion occurs in the first 20 weeks of gestation, with amniocentesis for fetal infection reserved for those who first present with fetal anaemia or hydrops of unknown cause. Intrauterine transfusion is the standard treatment for severe fetal anaemia and is associated with a significant improvement in survival. However, survivors of hydrops fetalis may have a higher rate of long-term neurodevelopmental complications compared with non-hydropic survivors. This review aims to synthesise published data on the diagnosis, surveillance and outcomes of congenital parvovirus infection to assist clinicians in diagnosing and managing this important condition.
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ItemNo Preview AvailableThe 2019 MalcolmFerguson-SmithYoung Investigator Award(WILEY, 2020-06)
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ItemCurrent use of noninvasive prenatal testing in Europe, Australia and the USA: A graphical presentation(WILEY, 2020-06)INTRODUCTION: Noninvasive prenatal testing (NIPT) using cell-free fetal DNA has increasingly been adopted as a screening tool for fetal aneuploidies. Several studies have discussed benefits and limitations of NIPT compared with both ultrasound and invasive procedures, but in spite of some shortcomings NIPT has become extensively used within the last 5 years. This study aims to describe the current use of NIPT in Europe, Australia and the USA. MATERIAL AND METHODS: We conducted a survey to describe the current use of NIPT. Colleagues filled in a simple email-based questionnaire on NIPT in their own country, providing information on (a) access to NIPT, (b) NIPT's chromosomal coverage, (c) financial coverage of NIPT for the patient and (d) the proportion of women using NIPT in pregnancy. Some data are best clinical estimates, due to a lack of national data. RESULTS: In Europe, 14 countries have adopted NIPT into a national policy/program. Two countries (Belgium and the Netherlands) offer NIPT for all pregnant women, whereas most other European countries have implemented NIPT as an offer for higher risk women after first trimester screening. In Australia, either combined first trimester screening (cFTS) or NIPT is used as a primary prenatal screening test. In the USA, there are no national consensus policies on the use of NIPT; however, NIPT is widely implemented. In most European countries offering NIPT, the proportion of women using NIPT is well below 25%. In the Netherlands, Austria, Italy, Spain and most Australian and American States, 25%-50% of women have NIPT performed and in Belgium testing is above 75%. In most countries, NIPT reports on trisomy 13, 18 and 21, and often also on sex chromosome aneuploidies. Only in Belgium, the Netherlands, Lithuania, Greece, Cyprus and Italy is NIPT offered predominantly as a genome-wide test (including some microdeletions or a whole genome coverage). CONCLUSIONS: Noninvasive prenatal testing has been widely adopted throughout Europe, Australia and the USA, but only a few countries/states have a national policy on the use of NIPT. The variation in NIPT utilization is considerable.