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Objective: To examine the effect of threatened miscarriage on second-trimester maternal serum alpha-fetoprotein (MSAFP) levels and pregnancy outcome; and to study the significance of ultrasound evidence of an intrauterine hematoma on pregnancy outcome in these patients.Methods: A retrospective, case-control study was performed on 144 women presenting with bleeding in the first trimester and 144 age-matched control subjects who attended for routine dating scans during the same time scale. The presence or absence of an intrauterine hematoma, MSAFP, and pregnancy outcomes were recorded.Results: The incidence of adverse pregnancy outcome was significantly (P=.02) higher in women with a history of first-trimester threatened miscarriage than in the control group. The relative risk (RR) of an adverse pregnancy outcome for the study group was 2.22 (95% confidence interval [CI] 1.12, 4.39) compared with the control group. The RR of delivering a baby of less than 1000 g was 4.43 (95% CI 0.5, 39.2) in women with first-trimester threatened miscarriage. This was independent of the presence of an intrauterine hematoma. The RR of MSAFP being raised to more than 2.5 multiples of the median (MoM) in the study group was 6.25 (95% CI 0.77, 50.6). There was no difference between women with threatened miscarriage who had or did not have ultrasound evidence of an intrauterine hematoma.Conclusion: Threatened miscarriage in the first trimester is associated with an increased incidence of adverse pregnancy outcome, independently of the presence of an intrauterine hematoma. Higher MSAFP in threatened miscarriage suggests a direct placental injury even in the absence of a hematoma. [ABSTRACT FROM AUTHOR]

Seven cases of 45,X were confirmed in the cohort including 4 with mosaicism, for a prevalence of 1:2614. cfDNA identified 6/7 cases (sensitivity=85.7%). cfDNA results reported high risk for 45,X in 24 cases; 6 of these were confirmed (PPV=25.0%). CfDNA screening for 45,X can be complicated by mosaicism and the diagnosis may be delayed due to variable and late onset of manifestations. We aimed to define the prevalence and screening performance for 45,X using single nucleotide polymorphism (SNP) - based cfDNA screening for aneuploidy and 22q11.2DS, in a large prospective registry study with genetic confirmation (SMART registry study). [Extracted from the article]

Because diagnostic test results are expected to affect perinatal management, HR22q pregnancies were stratified by use of invasive testing. The goal of the study was to determine whether results of SNP-based cfDNA screening for 22q11.2DS affects prenatal or neonatal management. HR22q pregnancies with normal prenatal diagnosis results had significantly fewer Caesarean sections and had fewer postnatal evaluations. [Extracted from the article]

Objective: Our purpose was to compare the biochemical composition of the fluid contained in pathologic and physiologic cavities in early pregnancy.Study Design: The level of urea, creatinine, electrolytes, enzymes, total protein, and alpha-fetoprotein and the affinity of alpha-fetoprotein for concanavalin A Sepharose was measured in samples of vesicular fluid from complete (n=2) and partial (n=1) mole, nuchal fluid (n=4), and cystic hygroma fluid (n=4). For comparison samples of maternal serum (n=32), amniotic fluid (n=32), coelomic fluid (n=15), and fetal blood (n=13) were obtained from normal pregnancies at 10 to 16 weeks' gestation.Results: Urea concentration was lower, whereas sodium, potassium, and total protein concentrations were higher in vesicular fluid than in amniotic and coelomic fluid. Urea, creatinine, sodium, potassium, chloride, and beta2-microglobulin concentrations did not vary between nuchal or cystic hygroma fluid and amniotic fluid or fetal serum. The concentration of total protein in nuchal and hygroma fluid was significantly lower than in fetal serum and significantly higher than in amniotic fluid. The amniotic fluid contained extremely high tau-glutamyltransferase concentration compared with the other fluids and fetal serum. Alkaline phosphatase and amylase were not detectable in coelomic fluid, fetal serum, or nuchal and hygroma fluid. The nuchal and hygroma fluid composition was similar except for total protein and alpha-fetoprotein concentrations, which were significantly higher in nuchal than in hygroma fluid. The vesicular fluid from the partial mole, fetal serum, and nuchal and hygroma fluid contained extremely high alpha-fetoprotein concentrations, which were significantly higher that those found in amniotic fluid. In complete mole alpha-fetoprotein molecules were of the yolk sac type, whereas they were of the liver type in nuchal and hygroma fluid.Conclusions: The composition of vesicular fluid in complete mole reflects a possible origin from the maternal plasma, yolk sac, and trophoblast, whereas the composition of nuchal and cystic hygroma fluid suggests a leakage from the fetal circulation. [ABSTRACT FROM AUTHOR]

Pathological examination of the heart and great vessels was performed in 61 specimens obtained after surgical termination of pregnancy for psychosocial indications at 9–18 weeks of gestation. The aorta and pulmonary trunk were identified and external diameters were measured at the level of, and distal to the aortic valve and pulmonary valve, the level of the aortic isthmus and thoracic aorta, and the proximal and distal ductus arteriosus. All eight vessel diameters increased linearly with gestational age and the ratio of the diameter of the aortic isthmus to that of the aortic valve or the distal ductus arteriosus also increased with gestation. Early pregnancy is characterized by rapid growth of the fetal head and this may well be the consequence of a preferential distribution of left ventricular output in favour of the head due to relative narrowing of the aortic isthmus at this gestation. [ABSTRACT FROM PUBLISHER]

Pathological examination of the great vessels was performed in 34 trisomy 21 fetuses after surgical termination of pregnancy at 11–16 weeks of gestation. In each case, the external diameters of eight segments of the great vessels were measured. The aortic valve and the ascending aorta were wider than in normal fetuses, whilst the aortic isthmus was narrower. The degree of narrowing of the isthmus was significantly greater in fetuses with high nuchal translucency thickness and it is possible that there is a causal association between the two. [ABSTRACT FROM PUBLISHER]

An abstract of the article "3D volume assessment of the corpus callosum and cerebellar vermis using various volume acquisition and post-processing protocols," by V. Frisova and colleagues is presented.

The article offers information on the cell-free fetal DNA (cffDNA) screening and its increasing use in Australia. Topics discussed include a study in Denmark which reported a 50% reduction in live-born prevalence of Down syndrome and 50% reduction in invasive testing following the introduction of combined first tri-mester screening, and another study in Victoria which found a high positive predictive value for cffDNA.

The author comments on a research by S. Saltvedt and colleagues concerning the effect of screening pregnant women randomized to trisomy 21 screening policies based either on nuchal translucency (NT) or on maternal age (MA). He contends that although NT assessment improves detection rate for trisomy 21, it does not reduce the live-birth prevalence of Down syndrome compared to traditional screening. He remarks that the results are compromised by the effect of bias introduced by patient choice.

Presents the abstract "Reliability of Prenatal Sexing by Non-invasive Diagnosis Using Real Time PCR," by Gail Norbury, C. Meaney, B. Lad, T. Stojilkovic-Mikic, M. Whitten, J. Hyett, and L. Chitty.

Objective To develop non-invasive testing for fetal haemoglobin disorders including β-thalassaemia and sickle cell anemia using maternal plasma. Methods D21S11 STR, AMGX, AMGY, sickle cell and β-thal. mutation (IVS1-25, IVS1-1, IVS1-110) genes were used to identify paternal allele in maternal plasma. The DNA samples from 12 informative families (father, mother, CVS) whose genotypes were already known were determined to predict the expected allele in maternal plasma. Fetal DNA was mainly extracted by the QIAamp blood kit. The 45-cycle, nested and hemi-nested PCR protocols using fluorescent labeled primers were applied for fetal DNA amplification. The beta-globin mutant alleles were detected by restriction endonuclease enzyme digestion. Gene analyzer was used to determine the end PCR product. Results In the D21S11 STR marker, there were 24 reactions of the 45 cycle PCR performed with the paternal allele detection rate of 12.5%. In the sickle cell and β-thal: IVS1-110 study, there were 4 reactions of the nested PCR performed with 100% of detection rate. Conversely, the nested PCR failed to amplify the β-thal: IVS1-25 allele. For fetal sex determination, the detection rates of AMGY and AMGX were 16.67% and 13.33%, respectively, by using the 45 cycle PCR protocol. The detection rates were improved to be 28.57% and 81.81% when the hemi-nested PCR was applied. However, there was 50% contamination for AMGY in this study. Conclusion Our findings clearly showed that this method was reliable and sensitive especially for β-thalassaemia IVS1-110 and sickle cell anemia detection. To overcome paternal allele drop out and improve the detection rate, linkage marker, optimal PCR reaction and real-time PCR should be applied for further investigation. This method is also attractive to be an alternative noninvasive PND that can reduce the number of unnecessary invasive PND by half. [ABSTRACT FROM AUTHOR]

Objective: To determine whether vaginal progesterone reduces spontaneous preterm birth (sPTB) before 37 weeks in asymptomatic high-risk women with a singleton pregnancy and normal mid-gestation cervical length. Study design: Databases were searched (from inception to December 2020) with the search terms "progesterone" and "premature birth" or "preterm birth". Studies were screened and included if they assessed vaginal progesterone compared to placebo in women with normal cervical length. Data were pooled and synthesized in a meta-analysis using a random effects model. Data sources: MEDLINE and Embase databases. Study synthesis: Following PRISMA screening guidelines, data from 1127 women across three studies were available for synthesis. All studies had low risk of bias and were of high quality. The primary outcome was sPTB <37 weeks, with secondary outcomes of sPTB <34 weeks. Vaginal progesterone did not significantly reduce sPTB before 37 weeks, or before 34 weeks with a relative risk (RR) of 0.76 (95% CI 0.37-1.55, p = .45) and 0.51 (95% CI 0.12-2.13, p = .35), respectively. Conclusions: Vaginal progesterone does not decrease the risk of sPTB in high-risk singleton pregnancies with a normal mid-gestation cervical length. [ABSTRACT FROM AUTHOR]

Objective To investigate the procedure-related complications of rapid amniodrainage in the treatment of polyhydramnios. Methods We followed prospectively all patients with polyhydramnios treated with rapid amniodrainage under continuous ultrasound guidance using a vacuum wound- drainage system from 1995 to 2002 in the fetal medicine unit of a university teaching hospital. We recorded: maternal age, type of pregnancy (singleton/twin), cause of polyhydramnios, gestational age at amniocentesis, volume of amniotic fluid drained, duration of the procedure, other intrauterine procedures in addition to the amniodrainage, and procedure-related complications including placental abruption, premature rupture of membranes (PROM), chorioamnionitis, fetal bradycardia and preterm delivery within 48 h of amniodrainage. Results Seventy-four consecutive women had 134 rapid amniodrainage procedures during the study period. Four procedures were excluded because the women were already in labor at the time of amniodrainage and they delivered within 48 h of the procedure. The final database therefore consisted of 70 patients with 130 procedures. Sixty-two percent (80/130) of the procedures were performed for the treatment of twin-twin transfusion syndrome (TTTS). There were altogether four procedure- related complications (3.1%; 95% CI, 1.0-8.0%). Three of them occurred in the TTTS group (3/80 procedures, 3.8%; 95% CI, 1.0-11.0%): one case each of placental abruption, PROM and fetal bradycardia. One PROM occurred in the non-TYTS group (1/50 procedures, 2.0%; 95% CI, 0-11.0%). In both cases of PROM the women presented in labor. Conclusions Rapid amniodrainage using a vacuum wound-drainage system is safe and efficient to treat severe polyhydramnios, with a 3.1% complication rate. [ABSTRACT FROM AUTHOR]

Objectives: Pre‐eclampsia (PE) causes substantial maternal and neonatal mortality and morbidity. In addition to the personal impact on women, children and their families, PE has a significant economic impact on our society. Recent research suggests that a first‐trimester multivariate model is highly predictive of preterm (< 37 weeks' gestation) PE and can be combined successfully with targeted prophylaxis (low‐dose aspirin), resulting in an 80% reduction in prevalence of disease. The aim of this study was to examine the potential health outcomes and cost implications following introduction of first‐trimester prediction and prevention of preterm PE within a public healthcare setting, compared with usual care, and to conduct a cost‐effectiveness analysis to inform health‐service decisions regarding implementation of such a program. Methods: A decision‐analytic model was used to compare usual care with the proposed first‐trimester screening intervention within the obstetric population (n = 6822) attending two public hospitals within a metropolitan district health service in New South Wales, Australia, between January 2015 and December 2016. The model, applied from early pregnancy, included exposure to a variety of healthcare professionals and addressed type of risk assessment (usual care or first‐trimester screening) and use of (compliance with) low‐dose aspirin prescribed prophylactically for prevention of PE. All pathways culminated in six possible health outcomes, ranging from no PE to maternal death. Results were presented as the number of cases of PE gained/avoided and the incremental increase/decrease in economic costs arising from the intervention compared with usual care. Significant assumptions were tested in sensitivity/uncertainty analyses. Results: The intervention produced, across all gestational ages, 31 fewer cases of PE and reduced aggregate economic health‐service costs by 1 431 186 Australian dollars over the 2‐year period. None of the tested iterations of uncertainty analyses reported additional cases of PE or higher economic costs. The new intervention based on first‐trimester screening dominated usual care. Conclusion: This cost‐effectiveness analysis demonstrated a reduction in prevalence of preterm PE and substantial cost savings associated with a population‐based program of first‐trimester prediction and prevention of PE, and supports implementation of such a policy. © 2020 International Society of Ultrasound in Obstetrics and Gynecology [ABSTRACT FROM AUTHOR]

Objective: To evaluate three birth-weight (BW) standards (Australian population-based, Fenton and INTERGROWTH-21st ) and three estimated-fetal-weight (EFW) standards (Hadlock, INTERGROWTH-21st and WHO) for classifying small-for-gestational age (SGA) and large-for-gestational age (LGA) and predicting adverse perinatal outcomes in preterm and term babies.Methods: This was a nationwide population-based study conducted on a total of 2.4 million singleton births that occurred from 24 + 0 to 40 + 6 weeks' gestation between 2004 and 2013 in Australia. The performance of the growth charts was evaluated according to SGA and LGA classification, and relative risk (RR) and diagnostic accuracy based on the areas under the receiver-operating-characteristics curves (AUCs) for stillbirth, neonatal death, perinatal death, composite morbidity and a composite of perinatal death and morbidity outcomes. The analysis was stratified according to gestational age at delivery (< 37 + 0 vs ≥ 37 + 0 weeks).Results: Following exclusions, 2 392 782 singleton births were analyzed. There were significant differences in the SGA and LGA classification and risk of adverse outcomes between the six BW and EFW standards evaluated. For the term group, compared with the other standards, the INTERGROWTH-21st BW and EFW standards classified half the number of SGA (< 10th centile) babies (3-4% vs 7-11%) and twice the number of LGA (> 90th centile) babies (24-25% vs 8-15%), resulting in a smaller cohort of term SGA at higher risk of adverse outcome and a larger LGA cohort at lower risk of adverse outcome. For term SGA (< 3rd centile) babies, the RR of perinatal death using the two INTERGROWTH-21st standards was up to 1.5-fold higher than those of the other standards (including the WHO-EFW and Hadlock-EFW), while the INTERGROWTH-21st -EFW standard indicated a 12-26% reduced risk of perinatal death for LGA cases across centile thresholds. Conversely, for the preterm group, the WHO-EFW and Hadlock-EFW standards identified a higher SGA classification rate than did the other standards (18-19% vs 10-11%) and a 20-65% increased risk of perinatal death in term LGA babies. All BW and EFW charts had similarly poor performance in predicting adverse outcomes, including the composite outcome (AUC range, 0.49-0.62) for both preterm (AUC range, 0.58-0.62) and term (AUC range, 0.49-0.50) cases and across centiles. Furthermore, specific centile thresholds for identifying adverse outcomes varied markedly by chart between BW and EFW standards.Conclusions: This study addresses the recurrent problem of identifying fetuses at risk of morbidity and perinatal mortality associated with growth disorders and provides new insights into the applicability of international growth standards. Our findings of marked variation in classification and the similarly poor performance of prescriptive international standards and the other commonly used standards raise questions about whether the prescriptive international standards that were constructed for universal adoption are indeed applicable to a multiethnic population such as that of Australia. Thus, caution is needed when adopting universal standards for clinical and epidemiological use. © 2020 International Society of Ultrasound in Obstetrics and Gynecology. [ABSTRACT FROM AUTHOR]

Objectives: Maternal hypertensive disorders (MHD), including pregnancy-induced hypertension and pre-eclampsia, are estimated to occur in 7-10% of pregnancies worldwide and have significant short- and long-term implications for both mother and fetus. This study aimed to determine the association of conventional and novel early first-trimester ultrasound measures with MHD and whether these ultrasound measures, combined with maternal characteristics and biochemistry, improve the prediction of MHD.Methods: This was a prospective cohort study of consecutive women with a singleton pregnancy, attending for an early (5 + 1 to 11 + 0 weeks' gestation) ultrasound examination at a private obstetric ultrasound practice between February 2016 and August 2018. Recorded ultrasound measurements included mean sac diameter, yolk sac diameter, crown-rump length, fetal heart rate (FHR), trophoblast thickness, trophoblast volume (TV) and mean uterine artery pulsatility index. Maternal biochemistry was assessed at 10-14 weeks and included beta-human chorionic gonadotropin, pregnancy-associated plasma protein-A (PAPP-A), placental growth factor (PlGF) and maternal serum alpha-fetoprotein. Regression models were fitted for each ultrasound parameter and multiples of the median (MoM) were calculated. All measures were compared between women who had a normotensive outcome and those who subsequently developed MHD. Logistic regression analysis was used to create a prediction model for MHD based on maternal characteristics, ultrasound measurements at 5 + 1 to 11 + 0 weeks' gestation and maternal biochemistry at 10-14 weeks.Results: In total, 1141 women were included in the analysis, of whom 1086 (95.2%) were normotensive at delivery and 55 (4.8%) developed MHD. Women who developed MHD weighed significantly more than did normotensive women (P < 0.0001). Mean MoM values for TV (P = 0.006), PAPP-A (P = 0.031) and PlGF (P = 0.044) were decreased significantly in pregnancies that subsequently developed MHD. The proposed logistic regression model includes maternal weight and height and MoM values for TV, FHR and PlGF, resulting in an area under the receiver-operating-characteristics curve of 0.80 (95% CI, 0.75-0.86).Conclusion: The combination of maternal weight and height, TV and FHR, measured prior to 11 weeks' gestation, and first-trimester PlGF appears to have good predictive value for development of MHD later in pregnancy. Copyright © 2020 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

The current model was developed in a mixed population of 35 948 women with singleton pregnancy attending a routine visit at one of two UK hospitals, and a combination of maternal factors, uterine artery PI, MAP and PlGF can predict 90% of cases of early-onset pre-eclampsia, 75% of preterm pre-eclampsia and 41% of term pre-eclampsia, at a screen-positive rate of 10%[[31], [35]]. The PROGNOSIS study[19], a prospective observational study conducted in 14 countries, was designed to investigate the value of using the sFlt-1/PlGF ratio to predict the absence of pre-eclampsia within 1 week and to predict the presence of pre-eclampsia within 4 weeks in women with clinical suspicion of pre-eclampsia. PlGF-based testing to help diagnose suspected pre-eclampsia (Triage PlGF test, Elecsys immunoassay sFlt-1/PlGF ratio, DELFIA Xpress PlGF 1-2-3 test, and BRAHMS sFlt-1 Kryptor/BRAHMS PlGF plus Kryptor PE ratio). [Extracted from the article]

Objective: To assess the effect of maternal sildenafil therapy on fetal growth in pregnancies with early-onset fetal growth restriction.Design: A randomised placebo-controlled trial.Setting: Thirteen maternal-fetal medicine units across New Zealand and Australia.Population: Women with singleton pregnancies affected by fetal growth restriction at 22+0 to 29+6 weeks.Methods: Women were randomised to oral administration of 25 mg sildenafil citrate or visually matching placebo three times daily until 32+0 weeks, birth or fetal death (whichever occurred first).Main Outcome Measures: The primary outcome was the proportion of pregnancies with an increase in fetal growth velocity. Secondary outcomes included live birth, survival to hospital discharge free of major neonatal morbidity and pre-eclampsia.Results: Sildenafil did not affect the proportion of pregnancies with an increase in fetal growth velocity; 32/61 (52.5%) sildenafil-treated, 39/57 (68.4%) placebo-treated [adjusted odds ratio (OR) 0.49, 95% CI 0.23-1.05] and had no effect on abdominal circumference Z-scores (P = 0.61). Sildenafil use was associated with a lower mean uterine artery pulsatility index after 48 hours of treatment (1.56 versus 1.81; P = 0.02). The live birth rate was 56/63 (88.9%) for sildenafil-treated and 47/59 (79.7%) for placebo-treated (adjusted OR 2.50, 95% CI 0.80-7.79); survival to hospital discharge free of major neonatal morbidity was 42/63 (66.7%) for sildenafil-treated and 33/59 (55.9%) for placebo-treated (adjusted OR 1.93, 95% CI 0.84-4.45); and new-onset pre-eclampsia was 9/51 (17.7%) for sildenafil-treated and 14/55 (25.5%) for placebo-treated (OR 0.67, 95% CI 0.26-1.75).Conclusions: Maternal sildenafil use had no effect on fetal growth velocity. Prospectively planned meta-analyses will determine whether sildenafil exerts other effects on maternal and fetal/neonatal wellbeing.Tweetable Abstract: Maternal sildenafil use has no beneficial effect on growth in early-onset FGR, but also no evidence of harm. [ABSTRACT FROM AUTHOR]

Objective: Pre-eclampsia (PE) remains a leading cause of maternal and fetal morbidity and mortality. A first-trimester screening algorithm predicting the risk of early-onset PE has been developed and validated. Early prediction coupled with initiation of aspirin at 11-13 weeks in women identified as high risk is effective at reducing the prevalence of early-onset PE. The aim of this study was to evaluate the cost-effectiveness of this first-trimester screening program coupled with early use of low-dose aspirin in women at high risk of developing early-onset PE, in comparison to current practice in Canada.Methods: A decision analysis was performed based on a theoretical population of 387 516 live births in Canada in 1 year. The clinical and financial impact of early preventative screening using the Fetal Medicine Foundation algorithm for prediction of early-onset PE coupled with early (< 16 weeks) use of low-dose aspirin in those at high risk was simulated and compared with current practice using decision-tree analysis. The probabilities at each decision point and associated costs of utilized resources were calculated based on published literature and public databases.Results: Of the theoretical 387 516 births per year, the estimated prevalence of early PE based on first-trimester screening and aspirin use was 705 vs 1801 cases based on the current practice. This was associated with an estimated total cost of C$9.52 million with the first-trimester screening program compared with C$23.91 million with current practice for the diagnosis and management of women with early-onset PE. This equals an annual cost saving to the Canadian healthcare system of approximately C$14.39 million.Conclusions: The implementation of a first-trimester screening program for PE and early intervention with aspirin in women identified as high risk for early PE has the potential to prevent a significant number of early-onset PE cases with a substantial associated cost saving to the healthcare system in Canada. Copyright © 2018 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

An editorial is presented of the important aspects on the clinical implementation of early screening for and prevention of pre-eclampsia (PE). It explores the impact of PE on perinatal and maternal health and the early-onset of PE leading to preterm delivery. The evidence on the effectiveness of aspirin in reducing the risk of preterm PE by more than 60% and the risk of early-onset PE by more than 80% when given to high-risk women is explored.

Concordance between reported fetal-sex with cfDNA and genetic testing results were determined in participants who received low-risk cfDNA results. To describe the performance of cfDNA screening for the sex chromosomes in an unselected obstetrical population. [Extracted from the article]

SMART participants were excluded from this analysis if pregnancy outcome was unknown, fetal aneuploidy or major anomaly was identified, or the pregnancy was interrupted. OP09.05: Prediction of pre-eclampsia using machine learning The main aim was to develop a method to predict pre-eclampsia using novel machine learning tools. [Extracted from the article]

To assess the performance of first trimester combined screening for preterm pre-eclampsia (PE) in Australia. Conclusions First trimester combined PE screening performed well in a large Australian population, and future studies should account for the effect of treatment. VP37.10: Performance of routine first trimester combined screening for preterm pre-eclampsia after multicentre clinical implementation in Australia. [Extracted from the article]

To assess pregnancy outcomes following first trimester combined screening for preterm pre-eclampsia (PE). OC07.06: Pregnancy outcomes following multicentre clinical implementation of routine first trimester screening for preterm pre-eclampsia in Australia Conclusions First trimester screening for PE identified a group at high risk of adverse outcomes who could benefit from aspirin prophylaxis and low-risk women who may be suitable for less intensive antenatal care. [Extracted from the article]

Objective: To examine the effect of a combination of screening and treatment with low-dose aspirin on the prevalence of early-onset pre-eclampsia (PE).Methods: This was a retrospective analysis of two consecutive cohorts of women screened for early PE. The first cohort was observed to determine whether algorithms developed to screen for PE at 11 to 13 + 6 weeks' gestation could be applied to our population. High-risk women in the second cohort were advised on their risk and offered aspirin (150 mg at night), with treatment starting immediately after screening. The prevalence of early PE and the proportion of women with PE delivering at 34-37 weeks' gestation were compared between the cohorts.Results: In the observational and interventional cohorts, 3066 and 2717 women, respectively, were screened. There were 12 (0.4%) cases of early PE in the observational cohort and one (0.04%) in the interventional cohort (P < 0.01). Among all women with PE delivering before 37 weeks, 25 (0.83%) were in the observational cohort and 10 (0.37%) in the interventional cohort (P = 0.03).Conclusions: A strategy of first-trimester screening for early PE coupled with prescription of aspirin to the high-risk group appears to be effective in reducing the prevalence of early PE. [ABSTRACT FROM AUTHOR]

ABSTRACT Objectives Targeted non-invasive prenatal testing ( NIPT) tests for trisomies 21, 18 and 13 and sex chromosome aneuploidies and could be an alternative to traditional karyotyping. The aim of this study was to determine the risk of missing other abnormal karyotypes of probable phenotypic significance by NIPT. Methods This was a retrospective population-based analysis of all singleton pregnancies booked for combined first-trimester screening ( cFTS) in Denmark over a 4-year period. Data concerning maternal demographics, cFTS and prenatal or postnatal karyotypes were collected from the Danish Fetal Medicine database. Karyotypes were classified according to whether the chromosomal anomaly would have been detected by NIPT and whether it was likely to affect phenotype. Results cFTS was completed in 193 638 pregnancies. 10 205 (5.3%) had cytogenetic or molecular analysis performed. Of these, 1122 (11.0%) had an abnormal karyotype, of which 262 (23.4%) would have been missed by NIPT, but would probably have been clinically significant. The prevalence of such 'atypical abnormal karyotypes' was increased in women above 45 years of age, in pregnancies with increased nuchal translucency ( NT) thickness (≥ 3.5 mm), with abnormal levels of free β-human chorionic gonadotropin (< 0.2 or ≥ 5.0 multiples of the median ( MoM)) or pregnancy-associated plasma protein-A < 0.2 MoM. One or more of these factors was present in 3% of women, and the prevalence of atypical abnormal karyotypes in this high-risk cohort was 1.6%. Conclusions A significant proportion of karyotypic abnormalities will be missed by targeted NIPT. Women of advanced maternal age, or with increased fetal NT or abnormal biochemistry, have a higher risk of having a fetus affected by an atypical abnormal karyotype and need to be counseled accordingly when considering NIPT. Copyright © 2013 ISUOG. Published by John Wiley & Sons Ltd [ABSTRACT FROM AUTHOR]

Objective Fetal nuchal translucency (NT) is assessed by ultrasonography as a screening tool for aneuploidy at 11 to 13 + 6 weeks' gestation. Fetuses with increased NT but apparently normal karyotype are still at higher risk of structural abnormality and a range of genetic syndromes, which may be related to major and submicroscopic chromosomal abnormalities. The aim of this study was to report the prevalence of submicroscopic chromosomal abnormalities in a cohort of apparently euploid fetuses that presented with increased NT. Methods DNA was extracted from stored chorionic villus samples from fetuses found to have increased NT (> 3.5 mm) during first-trimester screening. These samples were examined by microarray-based comparative genomic hybridization (aCGH) using a 44K oligonucleotide array specifically constructed for prenatal screening. Variations in copy number (CNVs) were reported after excluding known non-pathogenic variants and after validation with multiplex ligation-dependent probe amplification (MLPA) or real-time quantitative polymerase chain reaction (qPCR). The prevalence of pathogenic CNVs is reported and the association with NT and other ultrasound findings described. Results CNVs were reported in 6/48 (12.5%) cases by aCGH and the microdeletions or microduplications ranged from 1.1 to 7.9 Mb. Five of these were validated by MLPA/real-time qPCR and four (8.3%) were considered to be pathogenic and clinically significant. The incidence of pathogenic CNVs was 20.0% (2/10) among those cases with other sonographic anomalies and 5.3% (2/38) among those without. Conclusion aCGH allows detection of submicroscopic chromosomal abnormalities, the prevalence of which may be increased in fetuses with NT > 3.5 mm and an apparently normal karyotype. Copyright © 2011 ISUOG. Published by John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

The article presents a study on the development of image scoring methodology for reliable evaluation of practitioners on nasal bone imaging. It discloses that 20 images of nasal bone for quality assurance audit were submitted by 20 sonographers and that its criteria were statistically compared by three raters from The Fetal Medicine Foundation. It reveals that clear definition of assessment criteria and qualitative scoring method enhance the reliability of peer review for nasal bone imaging.

P13.04: A combination of ultrasound features and maternal biochemistry can predict pre-eclampsia prior to 11 weeks of gestation The aim of this research is to determine if trophoblast thickness (TT) and/or volume (TV) measured prior to 11 weeks gestation can predict PET either in isolation or in conjunction with maternal serum biochemistry. Comparison of MoM values for TV, PIGF and AFP demonstrated significant variation between pregnancies with normal outcomes (n = 971) compared to those that developed PET (n = 6). [Extracted from the article]

This was a prospective cohort study including ultrasound measurements: mean sac diameter (MSD), yolk sac diameter (YSD), Crown-rump length (CRL), fetal heart rate (FHR), trophoblast thickness, trophoblast volume and mean uterine artery pulsatility index (meanUAPI). The combination of FHR, mean UAPI, trophoblast volume in a prediction model for miscarriage may prove to be of value for ongoing pregnancy management in the first trimester. [Extracted from the article]