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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 (

Objective To evaluate the performance of high-resolution chromosomal microarray (CMA) as the standard diagnostic approach for genomic imbalances in pregnancies with increased risk based on combined first-trimester screening (cFTS). Methods This was a retrospective study of genomic findings in a cohort of 575 consecutive pregnancies undergoing invasive testing because of a cFTS risk ≥ 1:300 on a publicly funded population-based screening program in the Central and Northern Regions of Denmark, between September 2015 and September 2016. Women with fetal nuchal translucency thickness ≥ 3.5 mm or opting for non-invasive prenatal testing (NIPT) were excluded. Comparative genomic hybridization was performed using a 180-K oligonucleotide array on DNA extracted directly from chorionic villus/amniocentesis samples. Genomic outcomes were reported in relation to cFTS findings. Results Of the 575 pregnancies that underwent invasive testing, CMA detected 22 (3.8% (95% CI, 2.5-5.7%)) cases of trisomies 21, 18 and 13, 14 (2.4% (95% CI, 1.4-4.0%)) cases of other types of aneuploidy and 15 (2.6% (95% CI, 1.5-4.3%)) cases with a pathogenic or probably pathogenic copy number variant (CNV). Of the 15 CNVs, three were > 10 Mb and would probably have been detected by chromosomal analysis, but the other 12 would most probably not have been detected using conventional cytogenetic techniques; therefore, the overall detection rate of CMA (8.9% (95% CI, 6.8-11.5%)) was significantly higher than that estimated for conventional cytogenetic analysis (6.8% (95% CI, 5.0-9.1%)) (P = 0.0049). Reducing the cFTS risk threshold for invasive diagnostic testing to 1 in 100 or 1 in 50 would have led, respectively, to 60% or 100% of the pathogenic CNVs being missed. Conclusions CMA is a valuable diagnostic technique that can identify an increased number of genomic aberrations in pregnancies at increased risk on cFTS. Limiting diagnostic testing to pregnancies with a risk above 1 in 100 or 1 in 50, as proposed in contingent NIPT/invasive testing models, would lead to a significant proportion of pathogenic CNVs being missed at first-trimester screening. Copyright © 2017 ISUOG. Published by John Wiley & Sons Ltd.

Objective Inclusion of the three vessels and trachea view in the routine assessment of the fetal heart at the 18–20-week morphology scan improves recognition of a right-sided aortic arch (RAA). We report our experience of RAA diagnosed in an unselected population of pregnant women attending for a routine morphology scan. Methods The obstetric imaging databases of two ultrasound centers were reviewed retrospectively to identify all routine fetal morphology scans performed at 18–22 weeks' gestation between January 2011 and December 2014. A review of postnatal charts was conducted to ascertain findings at birth, neonatal complications and the anatomical findings at any neonatal echocardiographic or surgical procedure. Parents of older infants were contacted by phone to assess their wellbeing and identify any respiratory or feeding difficulties. Results In the 48-month study period, 43 083 routine anomaly scans were performed. Twenty-three cases of isolated RAA were identified, a prevalence of 0.05%. Nineteen (83%) cases of isolated RAA had a left-sided arterial duct and four (17%) had a right-sided duct. Postnatal follow-up data were obtained in all cases. The prevalence of a symptomatic vascular ring due to a double aortic arch was 13% (3/23). One (4%) case was diagnosed with DiGeorge syndrome. Conclusions RAA can be identified easily on a routine fetal anomaly scan, however the prevalence of RAA is low in an unselected population. Antenatally diagnosed cases should be referred for detailed fetal echocardiography and the patient should be made aware of the association with DiGeorge syndrome and the symptoms associated with a vascular ring. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd.

Objective To determine the acute effects of corticosteroids on the cardiovascular system in growth-restricted fetuses. Methods This was a prospective cohort study conducted at a tertiary hospital between January 2011 and October 2013. Fetal cardiovascular function in fetuses with intrauterine growth restriction (IUGR) was assessed immediately before and 24 h after the first dose of betamethasone, administered in routine management of IUGR. Fetal arterial and venous Dopplers were assessed. Fetal cardiac function was evaluated by tissue Doppler echocardiography, with the assessment of both left and right ventricular function by calculating myocardial performance index (MPI') and E':A' ratios. Values were compared before and after exposure. Results Seventeen patients were included at a mean gestational age of 34 + 1 (range, 29 + 1 to 37 + 4) weeks. Fifteen fetuses were below the 5(th) percentile and two were below the 10(th) percentile for estimated fetal weight and abdominal circumference and all had no interval growth during a 2-week period. There was a decrease in right MPI' (from 0.56 to 0.47; P = 0.007) after corticosteroid exposure but no change in left MPI' (from 0.49 to 0.48). Right MPI' was higher than left MPI' before exposure (0.56 vs 0.49, respectively; P = 0.001), but not after exposure (P = 0.55). There was no change in left or right ventricular E':A' ratios and no difference was detected in umbilical artery, middle cerebral artery or ductus venosus pulsatility index following administration of corticosteroids. Conclusions Corticosteroids altered right-sided, but not left-sided, tissue Doppler MPI' in IUGR fetuses, with no detectable change in arterial or venous Doppler pulsatility indices. Before exposure, the mean right MPI' was higher than the left. However, after exposure, there was no difference, suggesting that corticosteroids may reverse the negative effect of IUGR on fetal heart function. Large prospective studies with a larger sample size are needed to confirm this finding. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd.

Objective To evaluate the impact of using high-resolution chromosomal microarray (CMA) as the standard diagnostic approach to examine for genomic imbalances in pregnancies with increased risk (≥1 in 300) defined through combined first trimester screening (cFTS). Methods A cohort of 575 consecutive pregnancies that had cFTS risk ≥1:300 through a publicly funded population based screening program in the Central and Northern Regions of Denmark between September 2015 and September 2016. Women with an NT ≥3.5 mm or opting for NIPT were excluded. Comparative genomic hybridization was performed using a 180 K oligonucleotide array on DNA extracted directly from samples. Genomic outcomes are reported in relation to cFTS findings. Results 22 cases (22/575, 3.8%; 95% CI: 2.5-5.7%) of trisomy 21, 18 and 13 were detected. A further 14 cases (14/575, 2.4%; 95% CI: 1.4-4.0%) of other types of aneuploidy were detected as well as 15 (15/575, 2.6%: 95% CI: 1.5-4.3%) cases with a pathogenic or likely pathogenic copy number variant (CNV). Reducing the cFTS risk threshold for invasive diagnostic testing to 1 in 100 or 1 in 50 would have led, respectively, to 60% or 100% of the pathogenic CNVs being missed. Conclusion CMA is a valuable diagnostic technique that can identify an increased number of genomic aberrations in pregnancies at increased risk after cFTS. Limiting diagnostic testing to pregnancies with a risk above 1:100 or 1:50, as proposed in contingent NIPT/invasive testing models, will lead to a significant proportion of pathogenic CNVs being missed at first trimester screening.

In monozygotic twin pregnancies with reversed arterial perfusion (TRAP) sequence, the donor twin is ut high risk of perinatal death. This paper describes the use of endoscopic surgery in the management of this condition. In four cases of TRAP sequence presenting at 17, 20, 26 and 28 weeks' gestation, respectively, an endoscope was introduced into the uterus under local anesthesia and a Nd-YAG laser was used to coagulate the umbilical cord vessels of the acardiac twin. Laser coagulation was successful in arresting blood flow to the acardiac fetus in the cases treated at 17 and 20 weeks, and healthy infants were delivered at term. In the pregnancies treated at 26 and 28 weeks, the umbilical cords were very edematous and laser coagulation failed to arrest blood flow; healthy infants were delivered after spontaneous labor at 29 weeks. These findings suggest that, during mid-gestation, endoscopic laser coagulation of the umbilical cord vessels of the acardiac twin is an effective method of treating TRAP sequence. In later pregnancy, alternative methods of treatment are needed.

Objectives: There is no consensus on the best approach to cervical surveillance during pregnancy: should all women have a transvaginal (TV) scan or can this be restricted to women with a short cervix on initial transabdominal (TA) assessment? This study compares TA and TV assessment of cervical length at 16–41 weeks gestation. Methods: TA and TV ultrasound measurements of cervical length were made at 16–41 weeks gestation. Cervical length was measured from internal to external os using the landmarks described by the FMF. Bland-Altman plots and paired t-tests were used to look at differences in TA and TV measurement. The screening efficacy of initial TA assessment in defining a group for TV evaluation is also reported. Results: 367 women participated including 273, 84 and 10 presenting at 16–23, 24–35 and >36 weeks respectively. Overall, the TA method underestimated cervical length by 2.5 mm (95% CI 1.7–3.4 mm). Bland Altman plots showed an inverse trend with shorter cervixes after 24 weeks. 17 women had a cervix 36 weeks. The sensitivity and specificity of TA assessment of cervical length at 24–36 weeks gestation were 1/10 (0.10) and 70/74 (0.95) respectively; positive and negative predictive values were 1/5 (0.20) and 70/79 (0.89). At >36 weeks the sensitivity was 0/6 (0.0) and the specificity was 2/4 (0.5). Conclusions: TA measurements do not reflect TV assessment accurately, particularly if the cervix is short ( 24 weeks gestation. There is no value in TA assessment of the cervix >36 weeks.