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Objective: Prenatal diagnosis of a rare disease on ultrasound relies on a physician's ability to remember an intractable amount of knowledge. We developed a real‐time decision support system (DSS) that suggests, at each step of the examination, the next phenotypic feature to assess, optimizing the diagnostic pathway to the smallest number of possible diagnoses. The objective of this study was to evaluate the performance of this real‐time DSS using clinical data. Methods: This validation study was conducted on a database of 549 perinatal phenotypes collected from two referral centers (one in France and one in the UK). Inclusion criteria were: at least one anomaly was visible on fetal ultrasound after 11 weeks' gestation; the anomaly was confirmed postnatally; an associated rare disease was confirmed or ruled out based on postnatal/postmortem investigation, including physical examination, genetic testing and imaging; and, when confirmed, the syndrome was known by the DSS software. The cases were assessed retrospectively by the software, using either the full phenotype as a single input, or a stepwise input of phenotypic features, as prompted by the software, mimicking its use in a real‐life clinical setting. Adjudication of discordant cases, in which there was disagreement between the DSS output and the postnatally confirmed ('ascertained') diagnosis, was performed by a panel of external experts. The proportion of ascertained diagnoses within the software's top‐10 differential diagnoses output was evaluated, as well as the sensitivity and specificity of the software to select correctly as its best guess a syndromic or isolated condition. Results: The dataset covered 110/408 (27%) diagnoses within the software's database, yielding a cumulative prevalence of 83%. For syndromic cases, the ascertained diagnosis was within the top‐10 list in 93% and 83% of cases using the full‐phenotype and stepwise input, respectively, after adjudication. The full‐phenotype and stepwise approaches were associated, respectively, with a specificity of 94% and 96% and a sensitivity of 99% and 84%. The stepwise approach required an average of 13 queries to reach the final set of diagnoses. Conclusions: The DSS showed high performance when applied to real‐world data. This validation study suggests that such software can improve perinatal care, efficiently providing complex and otherwise overlooked knowledge to care‐providers involved in ultrasound‐based prenatal diagnosis. © 2023 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology. [ABSTRACT FROM AUTHOR]

This article explores the use of prenatal ultrasound in diagnosing biliary atresia (BA) and analyzing its prognostic implications. The study included 45,020 cases, with 359 cases suspected to have biliary abnormalities. Postpartum diagnosis confirmed BA in 14 cases, with significant differences observed in cyst size, shape, cystic changes, and gallbladder morphology between BA and biliary dilatation groups. The prognosis for biliary atresia splenic malformation syndrome was generally unfavorable, while those undergoing surgery had favorable outcomes. The study provides valuable information for clinical decision-making regarding BA. [Extracted from the article]

Objective: To evaluate the performance of third-trimester ultrasound for the diagnosis of clinically significant placenta accreta spectrum disorder (PAS) in women with low-lying placenta or placenta previa.Methods: This was a prospective multicenter study of pregnant women aged ≥ 18 years who were diagnosed with low-lying placenta (< 20 mm from the internal cervical os) or placenta previa (covering the internal cervical os) on ultrasound at ≥ 26 + 0 weeks' gestation, between October 2014 and January 2019. Ultrasound suspicion of PAS was raised in the presence of at least one of these signs on grayscale ultrasound: (1) obliteration of the hypoechogenic space between the uterus and the placenta; (2) interruption of the hyperechogenic interface between the uterine serosa and the bladder wall; (3) abnormal placental lacunae. Histopathological examinations were performed according to a predefined protocol, with pathologists blinded to the ultrasound findings. To assess the ability of ultrasound to detect clinically significant PAS, a composite outcome comprising the need for active management at delivery and histopathological confirmation of PAS was considered the reference standard. PAS was considered to be clinically significant if, in addition to histological confirmation, at least one of these procedures was carried out after delivery: use of hemostatic intrauterine balloon, compressive uterine suture, peripartum hysterectomy, uterine/hypogastric artery ligation or uterine artery embolization. The diagnostic performance of each ultrasound sign for clinically significant PAS was evaluated in all women and in the subgroup who had at least one previous Cesarean section and anterior placenta. Post-test probability was assessed using Fagan nomograms.Results: A total of 568 women underwent transabdominal and transvaginal ultrasound examinations during the study period. Of these, 95 delivered in local hospitals, and placental pathology according to the study protocol was therefore not available. Among the 473 women for whom placental pathology was available, clinically significant PAS was diagnosed in 99 (21%), comprising 36 cases of placenta accreta, 19 of placenta increta and 44 of placenta percreta. The median gestational age at the time of ultrasound assessment was 31.4 (interquartile range, 28.6-34.4) weeks. A normal hypoechogenic space between the uterus and the placenta reduced the post-test probability of clinically significant PAS from 21% to 5% in women with low-lying placenta or placenta previa in the third trimester of pregnancy and from 62% to 9% in the subgroup with previous Cesarean section and anterior placenta. The absence of placental lacunae reduced the post-test probability of clinically significant PAS from 21% to 9% in women with low-lying placenta or placenta previa in the third trimester of pregnancy and from 62% to 36% in the subgroup with previous Cesarean section and anterior placenta. When abnormal placental lacunae were seen on ultrasound, the post-test probability of clinically significant PAS increased from 21% to 59% in the whole cohort and from 62% to 78% in the subgroup with previous Cesarean section and anterior placenta. An interrupted hyperechogenic interface between the uterine serosa and bladder wall increased the post-test probability for clinically significant PAS from 21% to 85% in women with low-lying placenta or placenta previa and from 62% to 88% in the subgroup with previous Cesarean section and anterior placenta. When all three sonographic markers were present, the post-test probability for clinically significant PAS increased from 21% to 89% in the whole cohort and from 62% to 92% in the subgroup with previous Cesarean section and anterior placenta.Conclusions: Grayscale ultrasound has good diagnostic performance to identify pregnancies at low risk of PAS in a high-risk population of women with low-lying placenta or placenta previa. Ultrasound may be safely used to guide management decisions and concentrate resources on patients with higher risk of clinically significant PAS. © 2022 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology. [ABSTRACT FROM AUTHOR]

Objective: To report the outcome of fetuses with congenital cytomegalovirus (CMV) infection and normal ultrasound at the time of diagnosis, and to evaluate the rate of an additional anomaly detected only on magnetic resonance imaging (MRI).Methods: Medline, EMBASE, CINAHL and Cochrane databases were searched for studies reporting on the outcome of fetuses with congenital CMV infection. Inclusion criteria were fetuses with confirmed CMV infection and normal ultrasound assessment at the time of the initial evaluation. The outcomes observed were an anomaly detected on a follow-up ultrasound scan, an anomaly detected on prenatal MRI but missed on ultrasound, an anomaly detected on postnatal assessment but missed prenatally, perinatal mortality, symptomatic infection at birth, neurodevelopmental outcome and hearing and visual deficits. Neurodevelopmental outcome was assessed only in cases of isolated CMV infection confirmed at birth. Subgroup analysis was performed according to the trimester in which maternal infection occurred. Random-effects meta-analysis of proportions was used to analyze the data.Results: Twenty-six studies were included, comprising 2603 fetuses with congenital CMV infection, of which 1178 (45.3%) had normal ultrasound at the time of diagnosis and were included in the analysis. The overall rate of an associated central nervous system (CNS) anomaly detected on a follow-up ultrasound scan was 4.4% (95% CI, 1.4-8.8%) (32/523; 15 studies), while the rates of those detected exclusively on prenatal MRI or on postnatal imaging were 5.8% (95% CI, 1.9-11.5%) (19/357; 11 studies) and 3.2% (95% CI, 0.3-9.0%) (50/660; 17 studies), respectively. The rate of an associated extra-CNS anomaly detected on a follow-up ultrasound scan was 2.9% (95% CI, 0.8-6.3%) (19/523; 15 studies), while the rates of those detected exclusively on MRI or on postnatal imaging were 0% (95% CI, 0.0-1.7%) (0/357; 11 studies) and 0.9% (95% CI, 0.3-1.8%) (4/660; 17 studies), respectively. Intrauterine death and perinatal death each occurred in 0.7% (95% CI, 0.3-1.4%) (2/824; 23 studies) of cases. In cases without an associated anomaly detected pre- or postnatally, symptomatic infection was found in 1.5% (95% CI, 0.7-2.7%) (6/548; 19 studies) of infants, the overall rate of a neurodevelopmental anomaly was 3.1% (95% CI, 1.6-5.1%) (16/550; 19 studies), and hearing problems affected 6.5% (95% CI, 3.8-10.0%) (36/550; 19 studies) of children. Subanalyses according to the trimester in which maternal infection occurred were affected by the very small number of included cases and lack of comparison of the observed outcomes in the original studies. Compared with fetuses infected in the second or third trimester, those infected in the first trimester had a relatively higher risk of having an additional anomaly detected on follow-up ultrasound or MRI, abnormal neurodevelopmental outcome and hearing problems.Conclusions: In fetuses with congenital CMV infection in which no anomalies are detected on prenatal ultrasound or MRI, the risk of adverse postnatal outcome is lower than that reported previously in the published literature when not considering the role of antenatal imaging assessment. The results from this review also highlight the potential role of MRI, even in fetuses with no anomalies detected on ultrasound, as an anomaly can be detected exclusively on MRI in about 6% of cases. The findings from this study could enhance prenatal counseling of pregnancies with congenital CMV infection with normal prenatal imaging. © 2020 International Society of Ultrasound in Obstetrics and Gynecology. [ABSTRACT FROM AUTHOR]

Objective: To estimate the diagnostic accuracy of a two-stage strategy for early prediction of morbidly adherent placenta (MAP). In the first stage, at 11-13 weeks' gestation, women with low-lying placenta and history of uterine surgery are classified as being at high risk for MAP and, in the second stage, at 12-16 weeks, these high-risk pregnancies are assessed at a specialist MAP clinic.Methods: This was a prospective study in women having an ultrasound scan at 11-13 weeks' gestation as a part of routine pregnancy care. Women with low-lying placenta and a history of uterine surgery were followed up at a specialist MAP clinic at 12-16 weeks' gestation, 20-24 weeks and 28-34 weeks. At each visit to the MAP clinic, an ultrasound scan was carried out and the following features suggestive of MAP were recorded: non-visible Cesarean section scar; bladder wall interruption; thin retroplacental myometrium; presence of intraplacental lacunar spaces; presence of retroplacental arterial-trophoblastic blood flow; and irregular placental vascularization demonstrated by three-dimensional power Doppler.Results: Screening at 11-13 weeks was carried out in 22 604 singleton pregnancies, 1298 (6%) of which were considered to be at high risk of MAP because they had previous uterine surgery and low-lying placenta. At the MAP clinic at 12-16 weeks, the diagnosis of MAP was suspected in 14 cases and this was confirmed at delivery in 13. In the rest of the population, there were no cases of MAP.Conclusion: Accurate prediction of MAP can be achieved by ultrasound examination at 12-16 weeks' gestation. Copyright © 2018 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

Objectives: Twin pregnancy complicated by selective fetal growth restriction (sFGR) is associated with increased perinatal mortality and morbidity. Inconsistencies in the diagnostic criteria for sFGR employed in existing studies hinder the ability to compare or combine their findings. It is therefore challenging to establish robust evidence-based management or monitoring pathways for these pregnancies. The main aim of this study was to determine, by expert consensus using a Delphi procedure, the key diagnostic features of and the essential reporting parameters in sFGR.Methods: A Delphi process was conducted among an international panel of experts in sFGR in twin pregnancy. Panel members were provided with a list of literature-based parameters for diagnosing sFGR and were asked to rate their importance on a five-point Likert scale. Parameters were described as solitary (sufficient to diagnose sFGR, even if all other parameters are normal) or contributory (those that require other abnormal parameter(s) to be present for the diagnosis of sFGR). Consensus was sought to determine the cut-off values for accepted parameters, as well as parameters used in the monitoring, management and assessment of outcome of twin pregnancy complicated by sFGR. The questions were presented in two separate categories according to chorionicity.Results: A total of 72 experts were approached, of whom 60 agreed to participate and entered the first round; 48 (80%) completed all four rounds. For the definition of sFGR irrespective of chorionicity, one solitary parameter (estimated fetal weight (EFW) of one twin < 3rd centile) was agreed. For monochorionic twin pregnancy, at least two out of four contributory parameters (EFW of one twin < 10th centile, abdominal circumference of one twin < 10th centile, EFW discordance of ≥ 25%, and umbilical artery pulsatility index of the smaller twin > 95th centile) were agreed. For sFGR in dichorionic twin pregnancy, at least two out of three contributory parameters (EFW of one twin < 10th centile, EFW discordance of ≥ 25%, and umbilical artery pulsatility index of the smaller twin > 95th centile) were agreed.Conclusions: Consensus-based diagnostic features of sFGR in both monochorionic and dichorionic twin pregnancies, as well as cut-off values for the parameters involved, were agreed upon by a panel of experts. Future studies are needed to validate these diagnostic features before they can be used in clinical trials of interventions. Copyright © 2018 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

Objective: To perform a decision and cost-effectiveness analysis comparing four screening strategies for the antenatal diagnosis of vasa previa in singleton pregnancies.Methods: A decision-analytic model was constructed comparing vasa previa screening strategies. Published probabilities and costs were applied to four transvaginal screening scenarios that were carried out at the time of mid-trimester ultrasound: no screening, ultrasound-indicated screening, screening only pregnancies conceived by in-vitro fertilization (IVF) and universal screening. Ultrasound-indicated screening was defined as performing transvaginal ultrasound at the time of the routine anatomy ultrasound scan in response to one of the following sonographic findings associated with an increased risk of vasa previa: low-lying placenta, marginal or velamentous cord insertion or bilobed or succenturiate lobed placenta. The primary outcome was cost per quality-adjusted life year (QALY) in US$. The analysis was performed from a healthcare system perspective with a willingness-to-pay threshold of $100 000 per QALY selected. One-way and multivariate sensitivity analysis (Monte-Carlo simulation) was performed.Results: This decision-analytic model demonstrated that screening pregnancies conceived by IVF was the most cost-effective strategy, with an incremental cost effectiveness ratio (ICER) of $29186.50/QALY. Ultrasound-indicated screening was the second most cost-effective, with an ICER of $56096.77/QALY. These data were robust to all one-way and multivariate sensitivity analyses performed.Conclusions: Within the baseline assumptions, transvaginal ultrasound screening for vasa previa appears to be most cost-effective when performed among IVF pregnancies. However, both IVF and ultrasound-indicated screening strategies fall within contemporary willingness-to-pay thresholds, suggesting that both strategies may be appropriate to apply in clinical practice. Copyright © 2018 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the performance of a simple semi-automated method for estimation of fetal weight (EFW) using magnetic resonance imaging (MRI) as compared with two-dimensional (2D) ultrasound (US) for the prediction of large-for-dates neonates.Methods: Data of two groups of women with singleton pregnancy between March 2011 and May 2016 were retrieved from our database and evaluated retrospectively: the first group included women who underwent US-EFW and MRI-EFW within 48 h before delivery and the second group included women who had these evaluations between 35 + 0 weeks and 37 + 6 weeks of gestation, more than 48 h before delivery. US-EFW was based on Hadlock et al. and MRI-EFW on the formula described by Baker et al. For MRI-EFW, planimetric measurement of the fetal body volume (FBV) was performed using a semi-automated method and the time required for measurement was noted. Outcome measure was the performance of MRI-EFW vs US-EFW in the prediction of large-for-dates neonates, both ≤ 48 h and > 48 h before delivery. Receiver-operating characteristics (ROC) curves for each method were compared using the DeLong method.Results: Of the 270 women included in the first group, 48 (17.8%) newborns had birth weight ≥ 90th centile and 30 (11.1%) ≥ 95th centile. The second group included 83 women, and nine (10.8%) newborns had birth weight ≥ 95th centile. Median time needed for FBV planimetric measurements in all 353 fetuses was 3.5 (range, 1.5-5.5) min. The area under the ROC curve (AUC) for prediction of large-for-dates neonates by prenatal MRI performed within 48 h before delivery was significantly higher than that by US (for birth weight ≥ 90th centile, difference between AUCs = 0.085, standard error (SE) = 0.020, P < 0.001; for birth weight ≥ 95th centile, difference between AUCs = 0.036, SE = 0.014, P = 0.01). Similarly, MRI-EFW was better than US-EFW in predicting birth weight ≥ 95th centile when both examinations were performed > 48 h prior to delivery (difference between AUCs = 0.077, SE = 0.039, P = 0.045).Conclusion: MRI planimetry using our purpose-designed semi-automated method is not time-consuming. The predictive performance of MRI-EFW performed immediately prior to or remote from delivery is significantly better than that of US-EFW for the prediction of large-for-dates neonates. Copyright © 2017 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

Objective: To explore the outcome of fetuses with a prenatal diagnosis of ovarian cyst.Methods: The electronic databases MEDLINE and EMBASE were searched using keywords and word variants for 'ovarian cysts', 'ultrasound' and 'outcome'. The following outcomes in fetuses with a prenatal diagnosis of ovarian cyst were explored: resolution of the cyst, change of ultrasound pattern of the cyst, occurrence of ovarian torsion and intracystic hemorrhage, need for postnatal surgery, need for oophorectomy, accuracy of prenatal ultrasound examination in correctly identifying ovarian cyst, type of ovarian cyst at histopathological analysis and intrauterine treatment. Meta-analyses using individual data random-effects logistic regression and meta-analyses of proportions were performed. Quality assessment of the included studies was performed using the Newcastle-Ottawa Scale.Results: Thirty-four studies (954 fetuses) were included. In 53.8% (95% CI, 46.0-61.5%) of cases for which resolution of the cyst was evaluated (784 fetuses), the cyst regressed either during pregnancy or after birth. The likelihood of resolution was significantly lower in complex vs simple cysts (odds ratio (OR), 0.15 (95% CI, 0.10-0.23)) and in cysts measuring ≥ 40 mm vs < 40 mm (OR, 0.03 (95% CI, 0.01-0.06)). Change in ultrasound pattern of the cyst was associated with an increased risk of ovarian loss (surgical removal or autoamputation) (pooled proportion, 57.7% (95% CI, 42.9-71.8%)). The risk of ovarian torsion was significantly higher for cysts measuring ≥ 40 mm compared with < 40 mm (OR, 30.8 (95% CI, 8.6-110.0)). The likelihood of having postnatal surgery was higher in patients with cysts ≥ 40 mm compared with < 40 mm (OR, 64.4 (95% CI, 23.6-175.0)) and in complex compared with simple cysts, irrespective of cyst size (OR, 14.6 (95% CI, 8.5-24.8)). In cases undergoing prenatal aspiration of the cyst, rate of recurrence was 37.9% (95% CI, 14.8-64.3%), ovarian torsion and intracystic hemorrhage were diagnosed after birth in 10.8% (95% CI, 4.4-19.7%) and 12.8% (95% CI, 3.8-26.0%), respectively, and 21.8% (95% CI, 0.9-40.0%) had surgery after birth.Conclusion: Size and ultrasound appearance are the major determinants of perinatal outcome in fetuses with ovarian cysts. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

Objective: Advances in prenatal imaging techniques have led to an increase in the diagnosis of Cesarean scar pregnancy (CSP). However, antenatal counseling when CSP is diagnosed is challenging, and current evidence is derived mainly from small series reporting high rates of adverse maternal outcomes. The aim of this study was to ascertain the performance of prenatal ultrasound in predicting the natural history of CSP using a new sonographic sign, the crossover sign (COS).Methods: This was a retrospective analysis of early first-trimester (6-8 weeks' gestation) ultrasound images in women with morbidly adherent placenta (MAP) managed in the third trimester of pregnancy. The relationship between the gestational sac of the CSP, anterior uterine wall and Cesarean scar, defined as the COS, was analyzed to determine whether it could predict evolution in these cases. Odds ratios (ORs) were calculated and logistic regression analysis was performed to investigate the association between different types of COS (COS-1, COS-2+ or COS-2-) and the occurrence of MAP.Results: Sixty-eight pregnancies with MAP were included. The risk of placenta percreta was significantly higher in pregnancies with COS-1 than in those with COS-2 (OR, 6.67 (95% CI, 1.3-33.3)). When evaluating the two variants of COS-2 separately, the risk of placenta percreta was significantly higher in pregnancies with COS-1 vs COS-2+ (OR, 5.83 (95% CI, 1.1-30.2)) and this risk was even higher when comparing cases with COS-1 vs COS-2- (OR, 12.0 (95% CI, 1.9-75.7)). Logistic regression analysis showed that COS-1 was associated independently with severe forms of MAP, such as placenta percreta and increta (OR, 12.85 (95% CI, 2.0-84.0)), while COS-2+ was associated independently with placenta accreta (OR, 4.37 (95% CI, 1.1-17.0)).Conclusions: Ultrasound assessment of the relationship between the gestational sac of a CSP and the endometrial line (the COS) may help to determine whether a CSP will progress towards a less severe form of MAP, amenable to postnatal treatment, and successful pregnancy outcome. Large prospective studies are needed to confirm our findings and elucidate the natural history of this condition. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

Objective: To examine the diagnostic accuracy of a previously developed model for the first-trimester combined test in screening for trisomies 21, 18 and 13.Methods: This was a prospective validation study of screening for trisomies 21, 18 and 13 by assessment of a combination of maternal age, fetal nuchal translucency, fetal heart rate and serum free β-human chorionic gonadotropin (β-hCG) and pregnancy-associated plasma protein-A (PAPP-A) at 11 + 0 to 13 + 6 weeks' gestation in 108 982 singleton pregnancies undergoing routine care in three maternity hospitals. A previously published algorithm was used to calculate patient-specific risks for trisomy 21, 18 and 13 in each patient. The detection rate (DR) and false-positive rate (FPR) at estimated risk cut-offs from 1 in 2 to 1 in 1000 were determined. The proportions of trisomies detected were compared to their expected values in different risk groups.Results: In the study population, there were 108 112 (99.2%) cases with normal fetal karyotype or birth of a phenotypically normal neonate and 870 (0.8%) cases with abnormal karyotype, including trisomy 21 (n = 432), trisomy 18 (n = 166), trisomy 13 (n = 56), monosomy X (n = 63), triploidy (n = 35) or other aneuploidy (n = 118). The screen-positive rates, standardized according to the maternal age distribution in England and Wales in 2011, of fetuses with abnormal or normal karyotype were compatible with those predicted from the previous model; at a risk cut-off of 1 in 100, the FPR was about 4% and the DRs for trisomies 21, 18 and 13 were 90%, 97% and 92%, respectively. There was evidence that the algorithm overestimated risk. This could, to some degree, reflect under-ascertainment in pregnancies ending in miscarriage or stillbirth.Conclusion: In a prospective validation study, the first-trimester combined test detected 90%, 97% and 92% of trisomies 21, 18 and 13, respectively, as well as > 95% of cases of monosomy X and triploidies and > 50% of other chromosomal abnormalities, at a FPR of 4%. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the application of non-invasive prenatal testing (NIPT) as an alternative to invasive diagnostic prenatal testing in pregnancies with abnormal ultrasound findings.Methods: This was a retrospective analysis of 251 singleton and multiple pregnancies at high risk for fetal chromosomal abnormality based on findings at sonographic examination, in which NIPT was performed as a first-tier genetic test. NIPT was performed by massively parallel sequencing of cell-free DNA in maternal plasma, allowing genome-wide detection of whole-chromosome, as well as partial, autosomal aneuploidy. Sex chromosomes were not analyzed, according to the current protocol in Dutch laboratories.Results: NIPT was performed at a median gestational age of 20 weeks, indicated by the presence of multiple congenital anomalies (n = 13), isolated structural anomalies (n = 57), increased nuchal translucency ≥ 3.5 mm (n = 58), soft markers (n = 73), growth restriction (n = 40) and other anomalies (n = 10). NIPT results were normal in 224 (89.2%) pregnancies, inconclusive in one (0.4%) and abnormal in 26 (10.4%). Most genetic aberrations detected by NIPT were common whole-chromosome aneuploidies: trisomy 21 (n = 13), trisomy 18 (n = 6) and trisomy 13 (n = 3). Four further NIPT results were abnormal; one was suspected of being confined placental mosaicism and one was of maternal origin. In those with normal NIPT results, sonographic follow-up or examination of the newborn indicated the need for diagnostic genetic testing in 33/224 (14.7%) pregnancies. Clinically relevant genetic aberrations were revealed in 7/224 (3.1%) cases, two of which were whole-chromosome aneuploidies: trisomy 13 and monosomy X. As sex chromosomal aberrations are not included in NIPT analysis, the latter cannot be considered a false-negative result. Other discordant findings were subchromosomal aberrations (< 20 megabases, n = 2) and monogenic aberrations (n = 3).Conclusions: NIPT should not be recommended for genetic evaluation of the etiology of ultrasound anomalies, as both resolution and sensitivity, or negative predictive value, are inferior to those of conventional karyotyping and microarray analysis. Nonetheless, some pregnant women consider NIPT to be an acceptable alternative to invasive diagnostic testing. © 2016 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of the International Society of Ultrasound in Obstetrics and Gynecology. [ABSTRACT FROM AUTHOR]

Objective: To determine the accuracy of fetal and newborn growth charts for the prediction of small-for-gestational age (SGA) at birth (birth weight < 10th centile).Methods: This was a prospective cohort study performed within a UK specialist fetal growth clinic. A total of 105 consecutive pregnant women referred for a suspected SGA fetus were included. All pregnancies were managed according to a standard protocol using estimated fetal weight (EFW) plotted on customized Gestation Related Optimal Weight (GROW) charts. The last antenatal estimates of EFW (according to charts of GROW, Hadlock et al. and Mikolajczyk et al.), abdominal circumference (AC) (according to charts of Hadlock et al., INTERGROWTH-21st Project and Chitty et al.) or change in AC over time (calculated according to Pregnancy Outcome Prediction (POP) study) were compared against four birth-weight charts (GROW, INTERGROWTH-21st , Mikolajczyk et al. and World Health Organization (WHO)). The ability of each antenatal test to predict adverse perinatal outcome (APO) was assessed.Results: Birth weight < 10th centile was assigned in 62 (59%) neonates using the GROW chart, 57 (54%) using the Mikolajczyk et al. chart, 55 (52%) using the INTERGROWTH-21st chart and 51 (49%) using the WHO chart. AC-Hadlock had the best negative likelihood ratio (range, 0.3-0.4) and sensitivity (range, 74%-82%) for predicting SGA as defined by all four postnatal birth-weight charts. AC-INTERGROWTH-21st had the best positive likelihood ratio (range, 5.9-10.9) and specificity (94%-96%). For prediction of APO, AC-Hadlock and EFW-GROW had the best sensitivities (57% and 52%, respectively), whereas AC-POP had the best positive likelihood ratio (2.2) and specificity (88%). Antenatal prediction of APO increased to a sensitivity of 61% when AC-POP and EFW-GROW were combined; however, specificity was only 56%.Conclusions: We have identified wide variation in the diagnostic accuracy of various antenatal tools for the prediction of both SGA and APO, dependent on the choice of chart. Suboptimal diagnostic accuracy of commonly used antenatal tests may lead to increasing medicalization without prevention of APO. Researchers should focus their attention on a combination of fetal biometry and biomarkers for better prediction of SGA and prevention of APO. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the association between aberrant right subclavian artery (ARSA), with or without additional risk factors for aneuploidy or ultrasound abnormality, and results of chromosomal microarray analysis (CMA).Methods: This was a multicenter study of fetuses diagnosed with ARSA that underwent genetic analysis by CMA, all samples being analyzed in the same laboratory. Clinical investigation included nuchal translucency measurement, first- and second-trimester maternal serum screening, early and late second-trimester fetal anatomy scans and fetal echocardiography. Comparative genomic hybridization microarray analysis or single-nucleotide polymorphism array technology was used for CMA of DNA samples obtained from amniotic fluid.Results: CMA results were available for 63 fetuses with ARSA. In 36 fetuses, ARSA was an isolated finding, and no pathogenic variant was found. Additional ultrasound findings and/or risk factors for aneuploidy were present in 27 fetuses, five of which had pathogenic CMA results. Of these five, trisomy 21 was detected in a fetus with echogenic intracardiac focus (EIF), 22q11 deletion was detected in a fetus with EIF and an increased risk of trisomy 21 of 1:230 from maternal serum screening, 22q11 duplication was detected in a fetus with hypoplastic right kidney and choroid plexus cyst and 22q11 deletion was detected in a fetus with right aortic arch and clubfoot. The fifth fetus had increased nuchal translucency thickness (4 mm) and a ventricular septal defect, and CMA identified both 22q11 deletion and 1q21 duplication.Conclusions: In fetuses with isolated ARSA, an invasive procedure for CMA is not indicated. However, CMA is recommended when additional ultrasound abnormalities or risk factors for aneuploidy are observed. The chromosomal findings in four of the five cases with an abnormal CMA result in our study would not have been detected by standard fetal chromosomal testing. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

Objective: To assess the natural history and outcome of fetal pulmonary stenosis (PS), particularly that detected at 14-17 weeks' gestation.Methods: In this retrospective study we searched an electronic database of women from the general Israeli population attending a private ultrasound institute (Al-Kol ultrasound institute in Haifa) for routine complete early fetal ultrasound, including all fetal systems and a fetal echocardiogram, between 2004 and 2015. Ninety-seven percent of the women were at low risk of fetal malformations, and 3% had risk factors such as maternal Type-1 diabetes mellitus, exposure during pregnancy to teratogenic drugs, or anomalies in previous pregnancies or in other family members. At presentation at 14-17 weeks of gestation, color and pulsed Doppler imaging were performed across the four cardiac valves. We identified cases in which abnormal flow was detected, leading to suspicion of PS; in these cases, a follow-up examination was carried out at 17-19 weeks and then monthly until delivery or resolution of the finding, and postnatal echocardiography was performed at birth, 4-6 weeks thereafter, and yearly afterwards. Outcome data for suspicious cases, including postnatal diagnosis and general or specific symptoms, were collected by contacting the parents via email or telephone.Results: Among 24 185 early prenatal transvaginal ultrasound screening examinations, 23 cases of suspected PS were identified. They were classified into three groups, according to their ultrasound findings. In Group A (n = 8), the ultrasound screen was normal except for high flow velocity across the pulmonary valve. In six cases, this finding had resolved by 20-21 weeks of gestation and all were found to be normal at postnatal follow-up, one case underwent termination of pregnancy at 19 weeks and PS was confirmed at autopsy and one case was lost to follow-up. In Group B (n = 12), there was aliasing across the pulmonary valve. Two of these cases were normal postnatally and eight had mild-to-moderate PS; the remaining two cases developed hypoplastic right ventricle and pulmonary atresia at 19-20 weeks and the pregnancies were terminated. In Group C (n = 3) PS was associated with other anomalies; all three pregnancies were terminated. There were an additional six cases (Group D) not identified in early gestation, in which PS was late-onset. One had tricuspid regurgitation at the early screen, but was subsequently diagnosed with Ebstein's anomaly and pulmonary atresia, at 22 weeks, and was terminated. The other cases had completely normal early ultrasound screening examinations: one case had Ebstein's anomaly and PS was diagnosed at birth; four had isolated mild PS, of which one was diagnosed at 22 weeks' gestation and the other three were diagnosed postnatally, before 3 months of age. The sensitivity for detection of the ascertained cases of PS was 64% (11/17) and the specificity was > 99%.Conclusion: There is a diverse spectrum of presentation of fetal PS in the early mid-trimester. A possible explanation for this could be different pathophysiological pathways. Further study is needed to explain the different prenatal sonographic presentations in an unselected population. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

Objectives: To describe the timing of the ultrasound appearance of olfactory sulci in normal fetuses, according to gestational age.Methods: Olfactory sulci were assessed prospectively in the coronal plane on routine brain ultrasound examination in 100 normal fetuses between 22 and 31 + 6 weeks' gestation. Examinations were divided into five groups according to gestational age: Group 1, 22 to 23 + 6 weeks (n = 22); Group 2, 24 to 25 + 6 weeks (n = 9); Group 3, 26 to 27 + 6 weeks (n = 25); Group 4, 28 to 29 + 6 weeks (n = 22) and Group 5, 30 to 31 + 6 weeks (n = 22). For each fetus, olfactory sulci were assessed as absent, developing or formed.Results: Developing sulci appeared as primitive smooth depressions in the frontal lobe, which evolved into deep sharp complete sulci in later pregnancy. It was possible to assess the development of sulci in all cases. Olfactory sulci were consistently absent in Group 1. In Group 2, 44.4% of fetuses had absent olfactory sulci and 55.6% had developing sulci. In Group 3, the olfactory sulci were still developing in 21 (84.0%) fetuses and were completely formed in four (16.0%). Sulci were completely formed in all fetuses in Groups 4 and 5.Conclusions: Fetal brain ultrasound can visualize developing olfactory sulci from as early as 24 weeks' gestation. After 26 weeks, fetuses have detectable olfactory sulci and, after 28 weeks, they are completely formed. Abnormal development of olfactory sulci is a key feature of CHARGE syndrome. These results may help to improve the prenatal diagnosis of CHARGE syndrome. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

Objective: To explore the outcome in fetuses with prenatal diagnosis of posterior fossa anomalies apparently isolated on ultrasound imaging.Methods: MEDLINE and EMBASE were searched electronically utilizing combinations of relevant medical subject headings for 'posterior fossa' and 'outcome'. The posterior fossa anomalies analyzed were Dandy-Walker malformation (DWM), mega cisterna magna (MCM), Blake's pouch cyst (BPC) and vermian hypoplasia (VH). The outcomes observed were rate of chromosomal abnormalities, additional anomalies detected at prenatal magnetic resonance imaging (MRI), additional anomalies detected at postnatal imaging and concordance between prenatal and postnatal diagnoses. Only isolated cases of posterior fossa anomalies - defined as having no cerebral or extracerebral additional anomalies detected on ultrasound examination - were included in the analysis. Quality assessment of the included studies was performed using the Newcastle-Ottawa Scale for cohort studies. We used meta-analyses of proportions to combine data and fixed- or random-effects models according to the heterogeneity of the results.Results: Twenty-two studies including 531 fetuses with posterior fossa anomalies were included in this systematic review. The prevalence of chromosomal abnormalities in fetuses with isolated DWM was 16.3% (95% CI, 8.7-25.7%). The prevalence of additional central nervous system (CNS) abnormalities that were missed at ultrasound examination and detected only at prenatal MRI was 13.7% (95% CI, 0.2-42.6%), and the prevalence of additional CNS anomalies that were missed at prenatal imaging and detected only after birth was 18.2% (95% CI, 6.2-34.6%). Prenatal diagnosis was not confirmed after birth in 28.2% (95% CI, 8.5-53.9%) of cases. MCM was not significantly associated with additional anomalies detected at prenatal MRI or detected after birth. Prenatal diagnosis was not confirmed postnatally in 7.1% (95% CI, 2.3-14.5%) of cases. The rate of chromosomal anomalies in fetuses with isolated BPC was 5.2% (95% CI, 0.9-12.7%) and there was no associated CNS anomaly detected at prenatal MRI or only after birth. Prenatal diagnosis of BPC was not confirmed after birth in 9.8% (95% CI, 2.9-20.1%) of cases. The rate of chromosomal anomalies in fetuses with isolated VH was 6.5% (95% CI, 0.8-17.1%) and there were no additional anomalies detected at prenatal MRI (0% (95% CI, 0.0-45.9%)). The proportions of cerebral anomalies detected only after birth was 14.2% (95% CI, 2.9-31.9%). Prenatal diagnosis was not confirmed after birth in 32.4% (95% CI, 18.3-48.4%) of cases.Conclusions: DWM apparently isolated on ultrasound imaging is a condition with a high risk for chromosomal and associated structural anomalies. Isolated MCM and BPC have a low risk for aneuploidy or associated structural anomalies. The small number of cases with isolated VH prevents robust conclusions regarding their management from being drawn. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

Objectives: Cell-free DNA (cfDNA) analysis of maternal blood for detection of trisomies 21, 18 and 13 is superior to other methods of screening but is expensive. One strategy to maximize performance at reduced cost is to offer cfDNA testing contingent on the results of the first-trimester combined test that is used currently. The objectives of this study were to report the feasibility of implementing such screening, to examine the factors affecting patient decisions concerning their options for screening and decisions on the management of affected pregnancies and to report the prenatal diagnosis of fetal trisomies and outcome of affected pregnancies following the introduction of contingent screening.Methods: We examined routine clinical implementation of contingent screening in 11,692 singleton pregnancies in two National Health Service (NHS) hospitals in the UK. Women with a risk ≥ 1 in 100 (high-risk group) were offered options of invasive testing, cfDNA testing or no further testing, and those with a risk between 1 in 101 and 1 in 2500 (intermediate-risk group) were offered cfDNA testing or no further testing. The trisomic status of the pregnancies was determined by prenatal or postnatal karyotyping or by examination of the neonates.Results: In the study population of 11,692 pregnancies, there were 47 cases of trisomy 21 and 28 of trisomies 18 or 13. Screening with the combined test followed by invasive testing for all patients in the high-risk group potentially could have detected 87% of trisomy 21 and 93% of trisomies 18 or 13, at a false-positive rate of 3.4%; the respective values for cfDNA testing in the high- and intermediate-risk groups were 98%, 82% and 0.25%. However, in the high-risk group, 38% of women chose invasive testing and 60% chose cfDNA testing; in the intermediate-risk group 92% opted for cfDNA testing. A prenatal diagnosis was made in 43 (91.5%) pregnancies with trisomy 21 and all pregnancies with trisomies 18 or 13. In many affected pregnancies the parents chose to avoid testing or termination and 32% of pregnancies with trisomy 21 resulted in live births.Conclusions: Screening for fetal trisomies by cfDNA analysis of maternal blood, contingent on the results of the combined test, can be implemented easily in routine clinical practice. In the high-risk group from the combined test, most but not all women chose cfDNA testing rather than invasive testing. Performance of screening for trisomy 21 was superior by the cfDNA test than by the combined test. However, prenatal detection of trisomies and pregnancy outcome depend not only on performance of screening tests but also on parental choice. [ABSTRACT FROM AUTHOR]

Objective: To describe antenatal sonographic signs that help in the differentiation of truncus arteriosus Types II and III (TA-II/III) from pulmonary atresia with ventricular septal defect (PA-VSD).Methods: From a database of fetal echocardiographic examinations, we identified fetuses with sonographic features of a single great artery with VSD and relatively normal four-chamber view. Records were reviewed, comparing fetuses with TA-II/III and those with PA-VSD, with particular focus on: 1) characteristics of the overriding vessel, 2) appearance of the semilunar valves, 3) competence of the semilunar valves, 4) presence of major aortopulmonary collateral arteries (MAPCA), 5) main pulmonary artery being without antegrade flow, 6) site of arterial branching from the great artery and 7) other minor features, such as cardiac axis or associated anomalies.Results: Seventeen fetuses were identified, eight with TA-II/III and nine with PA-VSD. Among the eight fetuses with TA-II/III, seven had abnormal valves and six had valve regurgitation, compared with none of the nine PA-VSD fetuses. Five TA-II/III fetuses had early branching to supply the lungs, whereas most fetuses with PA-VSD had more distal branching. Notably, in six of the TA-II/III fetuses, the root of the single great artery originated predominantly from the right ventricle, while all but one of the PA-VSD fetuses had typical equal overriding of the VSD. The main pulmonary artery was without antegrade flow in two cases with PA-VSD. Finally, four cases with PA-VSD had MAPCA, in two of which this was identified prenatally.Conclusion: Identification of abnormal arterial valves or valve regurgitation, site of origin of branching, presence of overriding of the great artery, a main pulmonary artery without antegrade flow and MAPCA are helpful in differentiating between TA-II/III and PA-VSD. [ABSTRACT FROM AUTHOR]

Objective: To describe the anatomical structures that form the anterior (AC) and posterior (PC) complexes of the fetal brain and to categorize their anomalies in fetuses with cerebral abnormalities.Methods: We analyzed retrospectively volume datasets from 100 normal fetuses between 20 and 30 weeks' gestation. On the axial transventricular plane, our analysis of the AC included the interhemispheric fissure (IHF), the callosal sulcus (CS), the genu of the corpus callosum (CC), the cavum septi pellucidi (CSP) and the anterior horns (AH) of the lateral ventricles. The PC included the splenium of the CC, the medial wall of the lateral ventricles, the CS and the parieto-occipital fissure (POF). We then categorized AC/PC findings in 32 fetuses with agenesis of the septi pellucidi, schizencephaly, callosal dysgenesis, cortical malformation and hypoxic-ischemic brain injury.Results: The structures forming the AC and PC were visible in 100% and 92%, respectively, of normal cases. In the AC, the CSP was square-shaped in 73% of cases and it was triangular in 27%; the AH was comma-shaped in 92% of cases and triangular in the remainder. In the PC, the splenium of the CC interrupted and bridged the midline and was delimited posteriorly by the CS and the IHF. The POF was visible posteriorly. We categorized AC and PC abnormalities according to the main deviation from normality in their anatomical structures. The AC was abnormal in 30/32 cases and the PC was abnormal in 16/32 cases. In the two cases with normal AC, the PC was abnormal.Conclusion: Normal appearance of AC and PC seems to be a strong indicator of fetal central nervous system normality. Morphological abnormalities in both complexes are robust markers of midline defects, but not exclusively so. The majority of fetuses with cortical malformations showed a defect in the AC. [ABSTRACT FROM AUTHOR]

Objective: To investigate the potential value of combined screening by maternal characteristics and medical history (maternal factors), estimated fetal weight (EFW), uterine artery pulsatility index (UtA-PI), mean arterial pressure (MAP) and serum levels of placental growth factor (PlGF) and soluble fms-like tyrosine kinase-1 (sFlt-1) at 30-34 weeks' gestation in the prediction of delivery of small-for-gestational-age (SGA) neonates, in the absence of pre-eclampsia (PE).Methods: This was a screening study in 9472 singleton pregnancies at 30-34 weeks' gestation, comprising 469 that delivered SGA neonates and 9003 cases unaffected by SGA, PE or gestational hypertension. Multivariable logistic regression analysis was used to determine if UtA-PI, MAP and serum PlGF or sFlt-1, individually or in combination, improved the prediction of SGA neonates provided from screening by maternal factors and EFW.Results: Compared to the normal group, mean log10 multiples of the median (MoM) values of UtA-PI, MAP and serum sFlt-1 were significantly higher and log10 MoM PlGF was lower in the SGA group. Multivariable logistic regression analysis demonstrated that in the prediction of SGA neonates with a birth weight < 5(th) percentile, delivering < 5 weeks and ≥ 5 weeks after assessment, there were significant independent contributions from maternal factors, EFW, UtA-PI, MAP, and serum PlGF and sFlt-1, but the best performance was provided by a combination of maternal factors, EFW, UtA-PI, MAP and serum PlGF, excluding sFlt-1. Combined screening predicted, at a 10% false-positive rate, 89%, 94%, 96% of SGA neonates delivering at 32-36 weeks' gestation with birth weight < 10(th) , < 5(th) and < 3(rd) percentiles, respectively; the respective detection rates of combined screening for SGA neonates delivering ≥ 37 weeks were 57%, 65% and 72%.Conclusion: Combined screening by maternal factors and biophysical and biochemical markers at 30-34 weeks' gestation could identify a high proportion of pregnancies that will deliver SGA neonates. [ABSTRACT FROM AUTHOR]

Objective To determine whether systematic examination of primary and secondary palates using three-dimensional (3D) ultrasound aids in the identification of orofacial clefts in the first trimester. Methods 3D datasets were acquired prospectively from women undergoing first-trimester ultrasound screening for aneuploidy. Multiplanar mode display was used for offline analysis of (1) the primary palate in the coronal plane at the base of the retronasal triangle and (2) the secondary palate by virtual navigation in the axial plane. In addition, 3D datasets from three fetuses with a cleft palate diagnosed in the first trimester were retrospectively identified and included randomly in the study group. Results A total of 240 3D datasets from 237 pregnancies (including three sets of twins), 89% of which were obtained transabdominally and 11% transvaginally, were examined independently by three operators. The quality of the 3D datasets was classified subjectively as good, fair and poor in 76%, 20% and 4% of cases, respectively. Seven fetuses had an orofacial cleft; all involved both the primary palate and the secondary palate. Using 3D offline analysis, the primary palate was classified as intact in 229 (95%), cleft in nine (4%) and indeterminate in two (1%). Seven of the nine fetuses suspected to have a cleft affecting the primary palate had the cleft confirmed at birth or at postmortem examination (false-positive rate 0.9% (2/231)). The secondary palate was classified as intact in 217 (90%), cleft in six (3%) and indeterminate in 17 (7%). Clefts of the secondary palate were confirmed in all six suspected cases and missed in one, which was diagnosed at 16 weeks. The visualization rate was affected by the quality of the 3D dataset ( P < 0.001) and gestational age at evaluation ( P < 0.01). Conclusion In our series, all cases of clefting of the primary palate and 86% of cases involving the secondary palate were visualized using 3D ultrasound with a satisfactory false-positive rate. Virtual navigation of the fetal palate using the multiplanar mode display seems to be useful in the diagnosis of clefting in the first trimester. Copyright © 2012 ISUOG. Published by John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

Objectives This study had two objectives. The first was to determine the contents of relevant knowledge needed for informed decision-making (IDM) in secondtrimester ultrasound screening for fetal anomalies, with the goal of developing a knowledge measure for use in large-scale program evaluations. The second was to compare the contents of decision-relevant knowledge for second-trimester ultrasound screening with those for first-trimester screening for Down syndrome using the combined test. Methods A generic list of content domains for knowledge about screening was extracted from the literature. Items reflecting specific knowledge domains for secondtrimester ultrasound screening were constructed. An expert group of professionals and pregnant women expressed whether domains and items represented decision-relevant knowledge. Results Regarding second-trimester ultrasound screening, the experts scored all knowledge domains as (very) important. The meaning of an abnormal test result, the disorders being screened for, and the purpose of the screening were rated as very important for IDM, along with the voluntary nature of the test. All knowledge domains were included in the final measure. Importance ratings of knowledge domains for first-trimester Down syndrome screening and for second-trimester ultrasound screening were highly correlated (Pearson's r = 0.71). The domain 'consequences of a positive test result' was considered more important in first-trimester Down syndrome screening than in second-trimester ultrasound screening. Conclusions We have developed a knowledge measure for second-trimester ultrasound screening for fetal anomalies for use in routine, large-scale program evaluations. [ABSTRACT FROM AUTHOR]

Objectives Fetal gallbladder non-visualization on prenatal ultrasound in the second trimester is uncommon and in most cases the gallbladder is detected eventually. Associations of gallbladder non-visualization with cystic fibrosis, aneuploidy, agenesis of the gallbladder and biliary atresia have been reported. We present our experience and review the literature. Methods During the study period from January 2004 to June 2009 we collected prospectively cases of nonvisualization of the fetal gallbladder in the second trimester. In each case the fetus was evaluated by two examiners on at least two occasions, at least a week apart. Caseswith no additional sonographicmalformations were designated as isolated. Further evaluation included followup scans and a meticulous search for fetal anomalies. All patients were offered genetic consultation. Cystic fibrosis testing, amniocentesis for karyotyping and analysis of fetal digestive enzymes in the amniotic fluid were offered. Results We collected 21 cases of non-visualization of the fetal gallbladder, 16 of which were isolated and five of which had additional malformations. In four of these five, the associated anomalies were severe and the pregnancies were terminated for aneuploidy (two cases of trisomy 18 and one triploidy) or for the severity of the associated anomalies. Associated anomalies included left isomerism with complex cardiac anomaly and intrauterine growth restriction withmultisystem anomalies. The fifth fetus had interrupted inferior vena cava with azygos continuation without other anomalies and the child was alive and well at the age of 4 years. In 15 of the 16 isolated cases, antenatal and postnatal development were normal at the last follow-up, ranging from 4 months to 2.5 years. One case of cystic fibrosis was diagnosed prenatally and this pregnancy was terminated. There were no diagnoses of abnormal karyotype or biliary atresia among cases of isolated non-visualization of the gallbladder. Conclusions When prenatal non-visualization of the fetal gallbladder is associated with other severe malformation, aneuploidy should be suspected. When it is isolated, if cystic fibrosis is ruled out, the outcome is good. [ABSTRACT FROM AUTHOR]

Objective To determine the effectiveness of fetal cystoscopy in the prenatal diagnosis of and intervention for congenital lower urinary tract obstruction. Methods This study was a literature search using MEDLINE, Embase, Cochrane Library,MEDION, Web of Science reference lists and contact with experts. All studies reporting on fetal cystoscopy in lower urinary tract obstruction with data for a 2 × 2 table were selected for review. No language restrictions were applied. There was independent selection of studies, data extraction and quality assessment by two reviewers. Peto odds ratios were calculated as a summary measure of effect. Results A total of 2071 citations were identified and 66 papers selected for detailed evaluation, from which four papers with a total of 63 patients were selected for inclusion. Two papers had results for the use of cystoscopy in diagnosis, showing that fetal cystoscopy altered the ultrasound diagnosis of the underlying pathology in 36.4 and 25.0% of fetuses, respectively. Compared to no treatment, fetal cystoscopic intervention demonstrated an odds ratio for improved perinatal survival of 20.51 (95% CI, 3.87-108.69). However, comparing vesicoamniotic shunt (VAS) with fetal cystoscopy there appeared to be no significant improvement in the perinatal survival odds ratio of 1.49 (95% CI, 0.13-16.97). These results had wide CIs and for cystoscopy vs. VAS, all results crossed the line of no effect. Conclusion There is little published evidence for the effectiveness of therapeutic fetal cystoscopy as an intervention for congenital lower urinary tract obstruction and the quality of this evidence is poor. It should thus be considered to be an 'experimental intervention' and subjected to further investigation. [ABSTRACT FROM AUTHOR]

The article presents a study which describes a sonographic technique for detecting cleft plate in the first semester of pregnancy. In this study, visualized restronasal triangle, which is formed by the frontal processes of the maxilla and the palate in the coronal plane of the fetus' face, in 100 first-trimester sonographic screenings were evaluated. Abnormal configurations of the retronasal triangle were documented in all cases with postnatal diagnosis of cleft palate.

The article presents a case study of a 40-year-old pregnant woman, who was referred to clinic at 32 weeks' gestation because of oligohydramnios and severe intrauterine growth restriction (IUGR). The patient was diagnosed for confined placental mosaicism (CPM) of double trisomies 9 and 21. The article discusses that CPM of trisomy 9 have been reported with features of skeletal abnormalities and neurodevelopmental impairment.

The article presents a study that compares the performance of sonographic techniques such as reverse-face, flipped-face, and oblique-face for the diagnosis of cleft lip and palate (CLP). It details the specific procedures used for the three techniques in visualizing the soft and hard palate of the 50 fetuses with no CLP and 10 cases with CLP. It reveals the capacity of the oblique-face or flipped-face to provide a well visualization of the soft palate in selected areas.

Abstract A case of prenatal diagnosis of fetal ovarian hyperstimulation in a pregnancy of 35 weeks is reported. Two large cystic septate ovaries with no internal vegetations were observed in the fetal abdomen. The fetus was macrosomic and the remaining morphology was normal. Polyhydramnios and placental thickening were present, with no other macro- or microscopic alterations. The only significant maternal change detected was elevation of blood β-human chorionic gonadotropin (β-hCG) levels. Evaluation of the newborn confirmed the prenatal diagnosis, with progressive and spontaneous regression of fetal ovarian volume and of maternal serum β-hCG occurring after delivery. [ABSTRACT FROM AUTHOR]

Abstract Bilateral congenital diaphragmatic hernia is a rare, life-threatening malformation. We describe a case of bilateral Bochdalek hernia diagnosed prenatally. The sonographic clues to the diagnosis were anterior displacement of the heart with relatively minimal lateral shift. The definitive diagnosis was made by demonstrating the liver in the right thorax and bowel loop and stomach in the left thorax. Color and power Doppler demonstrated the hepatic vessels embracing both sides of the heart from behind. [ABSTRACT FROM AUTHOR]

A case of an isolated cranio-facial vascular anomaly, extending from the left parietal bone to the lateral margin of the omolateral orbit is presented. Detection and differential diagnosis of fetal hemangioma is important for a variety of reasons. First, it allows the prenatal growth of the mass to be evaluated. Second, it enables appropriate arrangements for delivery to be made including its timing and selection of the appropriate clinical team necessary to support the neonate. After birth these cranio-facial anomalies can regress spontaneously, but plastic surgery is often necessary. [ABSTRACT FROM AUTHOR]

A case of mixed intrahepatic arteriovenous shunts in a fetus diagnosed at 35 weeks' gestation is presented. Color Doppler ultrasonography in the fetal liver demonstrated complicated vascular connections fed by the hepatic arterial branches and drained into the portal and middle hepatic veins. Pulsed Doppler ultrasonography identified a high cardiac output state by the detection of increased flow velocities of the great vessels. The contribution of Doppler ultrasonography to hemodynamic changes is highlighted. The management is briefly discussed. [ABSTRACT FROM AUTHOR]

A pregnant woman of 14 weeks' gestation was sonographically examined due to large-for-dates uterine size. The ultrasound examination showed poor ossification of all bony structures. All limbs were shortened with no evidence of fractures. The echodensity approximated that of the surrounding organs. No acoustic shadowing was observed. Based on these sonographic findings, skeletal dysplasia and short-limb dwarfism were diagnosed, the most likely condition being congenital hypophosphatasia. Early cordocentesis was successfully performed at 15 weeks' gestation to determine fetal alkaline phosphatase concentration. This was undetectable. The prenatal diagnosis of congenital hypophosphatasia was made. After counselling, the woman decided to opt for termination of pregnancy which was performed vaginally. Post-abortion findings confirmed the prenatal diagnosis. To our knowledge, this is the earliest sonographic diagnosis of this condition reported. [ABSTRACT FROM AUTHOR]

In a case of bilateral cleft lip at 12 weeks, cleft palate was diagnosed by finding "Y" shape defect in multiplanar analysis. Results Compared to 2DUS alone, addition of 3DUS provided the following benefits: Prenatal diagnosis was made by 3DUS with skeletal mode alone in three cases of rib abnormalities (extra or absent rib). Methods 26 fetal abnormalities were diagnosed and evaluated using two-dimensional ultrasonography (2DUS) and 3DUS examinations [Voluson E10 (Ge Healthcare, Austria)]. [Extracted from the article]

Fetal trisomy 18 is the second most common multiple malformation syndrome. We present four cases of trisomy 18 with multiple sonographic abnormalities at 13 and 14 weeks of gestation. These cases demonstrated that fetal hand deformities can be a tell-tale sign of trisomy 18 with or without increased nuchal translucency at this gestation. [ABSTRACT FROM AUTHOR]

We report the diagnosis of a congenital oral fibrovascular hamartoma with two- and three-dimensional ultrasound. The distinctive sonographic features including the fibrovascular stalk and a single vascular pedicle are described. Prenatal magnetic resonance imaging and postnatal computed tomography confirmed the ultrasound findings. Despite concerns about impaired swallowing, the prenatal and perinatal courses were straightforward. The lesion was removed soon after birth. Histopathology of the removed lesion provided the definitive diagnosis of a fibrovascular hamartoma and reported a cellular composition that differentiates it from similar lesions. To our knowledge, such a lesion has not been reported pre- or postnatally and provides an alternative differential diagnosis for a fetus presenting with a mouth mass. Copyright © 2011 ISUOG. Published by John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

Describes two cases of microcephaly diagnosed by ultrasound at 23 and 25 weeks of gestation. History of microcephaly in the families of the pregnant women; Reasons for early prenatal diagnosis; Results of initial and subsequent ultrasound examinations; Images of the fetuses; Fetal biometry chart; Signals generated by the anterior cerebral arteries and by the posterior cerebral arteries.

The article presents a case study of a 28-year-old Japanese woman who was diagnosed with fetal hepatic hemangioma in the third trimester of pregnancy. Topics include the use of HDlive Flow with HDlive silhouette mode in diagnosing fetal hepatic hemangioma, impact of vascular pattern on providing clues for the prenatal diagnosis of hepatic hemangioma, and findings of two-dimensional (2D) ultrasound.

The article presents a case study of a 25-year-old woman who was admitted to hospital due to detection of an abnormal blood vessel of large diameter in the fetal abdomen at 23 weeks gestation. The patient was diagnosed with Abernethy malformation after undergoing three-dimensional ultrasonography with glass-body mode and four-dimensional (4D) spatiotemporal imaging correlation (STIC). [ABSTRACT FROM AUTHOR]

We sought to investigate the accuracy of the prenatal diagnosis of the fetal condition by comparing the ultrasound and MRI findings before EXIT procedure. On the other hand, the result of the Kappa between fetal MRI and postoperative diagnosis and the combination of fetal ultrasound and fetal MRI and postoperative diagnosis were 0.871 and 0.975 respectively. [Extracted from the article]

We describe a case of congenital ranula or retention salivary cyst diagnosed at 26 weeks of gestation. The fetal karyotype was obtained by amniocentesis and chorionic villus sampling, and was normal. Follow-up ultrasound scans revealed no changes in the size or the position of the cyst. Surgical treatment was performed 2 days after a normal vaginal delivery, with excellent results. [ABSTRACT FROM AUTHOR]

An abstract of the article "A case of Timothy syndrome prenatally diagnosed with fetal ECG and 4D ultrasonography" by M. Tanaka and others is presented.

An abstract of the oral presentation "Cornelia de Lange syndrome: New features for prenatal diagnosis" by E. Thellier and colleagues, at the 24th World Congress on Ultrasound in Obstetrics and Gynecology in Barcelona, Spain, is presented.

An abstract of the oral presentation "Prenatal diagnosis of intra-abdominal cystic lesions: accuracy of fetal ultrasonography" by G. Marchitelli, J. Stirnemann, V. Rousseau and colleagues, at the 24th World Congress on Ultrasound in Obstetrics and Gynecology in Barcelona, Spain, is presented.

An abstract of the poster "Prenatal diagnosis of isolated agenesis of corpus callosum by direct visualisation with ultrasonography; results at a tertiary centre in Turkey" by H. Pala and others, presented at the 24th World Congress on Ultrasound in Obstetrics and Gynecology, is presented.