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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]

Objective: To assess the performance of the 'separation sign' as a predictor of normal placental separation in a large cohort of women at risk for placenta accreta spectrum (PAS) and in a high-risk subgroup with placenta previa or anterior low-lying placenta and at least one previous Cesarean delivery.Methods: This was a prospective study of women at risk for PAS referred to a specialist clinic at between 22 and 38 weeks' gestation. All women underwent ultrasound assessment for the presence of the separation sign, which detects the difference in elasticity between the myometrium and the placenta, characterized by different rates of rebound after an ultrasound probe is used to apply pressure over the uteroplacental interface. When the sign is positive, the placenta appears to move relative to the myometrium, leading to the appearance or enhancement of the clear zone. The predictive performance of the separation sign for normal spontaneous placental separation at delivery was assessed.Results: Of the 194 included women, 163 had a positive separation sign, all of whom went on to have normal placental separation at delivery. Of the 24 women with a negative separation sign, three (12.5%) had normal placental separation and 21 (87.5%) were diagnosed with PAS. This yielded a sensitivity of 98.2% (95% CI, 94.8-99.6%) and specificity of 100% (95% CI, 83.9-100%). In the high-risk cohort (n = 35), a positive separation sign remained a reliable predictor of normal placental separation, with a positive predictive value of 100%, sensitivity of 88.9% (95% CI, 65.3-98.6%) and specificity of 100% (95% CI, 80.5-100%).Conclusions: The separation sign could be a useful tool in women considered to be at risk for PAS, as it can facilitate the prediction of normal placental separation at delivery. This may prevent overtreatment, the associated iatrogenic morbidity and unnecessary allocation of clinical resources. © 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 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]

Objectives: To determine (1) the diagnostic yield and turnaround time (TAT) of two consecutive prenatal exome sequencing (ES) pathways, (2) the evolution of the fetal phenotype and (3) the clinical impact of detecting causative pathogenic variants and incidental findings.Methods: This was a retrospective cohort analysis of prospectively collected fetal cases that underwent trio ES in the presence of a structural anomaly and normal chromosomal microarray testing in the West Midlands Regional Genetics Laboratory, Birmingham, UK. The study included two phases: (1) between July 2018 and October 2020, the clinical pathway from the Prenatal Assessment of Genomes and Exomes (PAGE) study was adopted and involved prenatal trio ES based on a panel of 1542 development disorder genes and case selection by a multidisciplinary team; (2) between October 2020 and July 2021, prenatal trio ES investigation was based on the National Health Service (NHS) England R21 pathway, with definitive inclusion criteria and a panel of 1205 prenatally relevant genes. Deep phenotyping was performed throughout pregnancy and postnatally.Results: A total of 54 cases were included. The diagnostic yield before vs after R21 pathway implementation was 28.0% (7/25) and 55.2% (16/29), respectively (P = 0.04). The respective values for mean TAT were 54.0 days (range, 14-213 days) and 14.2 days (range, 3-29 days). In cases in which a causative pathogenic variant was identified and in which the pregnancy reached the third trimester, additional anomalies were detected between the second and third trimesters in 73.3% (11/15) of cases, predominantly secondary to progressive hydropic features (3/11 (27.3%)), arthrogryposis (3/11 (27.3%)) or brain anomaly (2/11 (18.2%)). In three cases, a variant of uncertain significance was reclassified to likely pathogenic based on postnatal information. Detection of a causative pathogenic variant had a significant clinical impact in 78.3% (18/23) of cases, most frequently affecting decision-making regarding the course of the pregnancy and neonatal management (7/18 (38.9%)).Conclusions: Prenatal ES using the NHS England R21 pathway showed great promise when applied to this cohort, allowing a genetic diagnosis to be made in over half of preselected cases with a fetal structural anomaly on ultrasound. Monitoring and real-time updating of fetal phenotype and reclassification of variants based on postnatal findings is vital to increase the clinical impact that is already evident from this emerging genomic technology. © 2021 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: Virtual reality (VR) objects of fetal ultrasound volumes have been proposed for teaching and learning diagnostic ultrasound. The aim of this study was to determine if VR objects improve learning efficiency and retention of diagnostic ability in fetal ultrasound.Methods: Medical students and junior doctors were taught normal and abnormal sonographic fetal brain anatomy using conventional means (video lectures and review articles; control group) or additionally with selected VR objects from a novel fetal brain atlas (Pocket Brain, http://pb.fetal.ch; study group). Knowledge, speed of recognition and retention of diagnostic ability were tested in multiple-choice questionnaires 1 and 4 months after teaching, and the results were compared between those taught using conventional means only and those taught using VR objects.Results: Participants taught using VR objects answered significantly more questions correctly and solved the tests quicker than those taught using conventional methods only, both 1 and 4 months after teaching.Conclusion: The use of VR objects in teaching fetal ultrasound significantly improves learning efficiency and knowledge retention. Copyright © 2018 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

Objective: To assess trends in ultrasound-indicated prenatal diagnostic testing performed over the past two decades in the Australian state of Victoria, in the context of rapidly changing practices in aneuploidy screening and chromosome analysis.Methods: This was a retrospective analysis of all ultrasound-indicated prenatal diagnostic testing (amniocentesis and chorionic villus sampling) performed in the state of Victoria between 1994 and 2016. Ultrasound indications for testing included: fetal structural abnormality, fetal death, fetal growth restriction, abnormal amniotic fluid volume, genetic 'soft marker' and unspecified ultrasound abnormality. Maternal age, indication for testing, type of diagnostic procedure, gestational age, type of chromosome analysis (G-banded karyotyping or chromosomal microarray (CMA)) and test results were obtained. Diagnostic yield (i.e. percentage of tests yielding a major abnormality) was analyzed by year, maternal age and gestational age. Statistical analysis was performed using the χ2 tests for trend or difference in proportions, as appropriate.Results: During the 23-year study period, 1 533 317 births were recorded and 16 152 diagnostic procedures were performed for the primary indication of ultrasound abnormality. In recent years, ultrasound abnormality became the most common indication for prenatal invasive testing (29.4% of diagnostic tests between 2013 and 2016) due to a steep decline in testing for other indications such as positive result on combined first-trimester screening or advanced maternal age alone. In 2016, over 95% of ultrasound-indicated procedures were performed with CMA; among these, pathogenic copy number variant (CNV) was the most common (3.5%) abnormality detected, followed by trisomy 21 (2.8%). The diagnostic yield of ultrasound-indicated tests performed < 16 weeks was significantly higher than that of tests performed after 20 weeks (31.5% vs 9.0%).Conclusions: Ultrasound-indicated invasive testing is contributing to prenatal diagnosis in new ways in the genomic era. A pathogenic CNV is now the most likely diagnosis after ultrasound-indicated testing, rather than trisomy 21 or other whole-chromosome aneuploidy. Despite steady improvements in first-trimester screening for aneuploidy, the diagnostic yield of ultrasound-indicated tests > 20 weeks has remained stable due to increased utilization of CMA. Procedures performed for structural abnormalities < 16 weeks continue to have the highest diagnostic yield, supporting the benefits of early fetal structural assessment at 11-13 weeks. Copyright © 2018 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

We report the first series of cases of pericallosal curvilinear lipoma (CL) diagnosed prenatally and highlight the limitations in identifying a specific prenatal imaging pattern using ultrasound and magnetic resonance imaging (MRI). In all five of our cases, on ultrasound, the main feature leading to referral was a short corpus callosum. This subtle callosal dysgenesis was associated with a band of hyperechogenicity surrounding the corpus callosum, mimicking the pericallosal sulcus, which increased in size during the third trimester in three of the four cases in which sonographic follow-up was performed. On T2-weighted MRI, this band showed typical hypointensity in all cases; in contrast, on T1-weighted imaging, in only one case was there hyperintensity, suggestive of fat, as seen typically in the postnatal period. For appropriate prenatal counseling regarding outcome, it is important to identify or rule out CL when mild corpus callosal dysgenesis is observed. One should be aware of subtle diagnostic findings, such as a thin band of echogenicity surrounding the corpus callosum that is seen as a band of hypointensity on T2-weighted fetal MRI, and which may increase in size during gestation. Copyright © 2017 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

Objectives: To determine the sensitivity and specificity of first-trimester ultrasound for the detection of fetal abnormalities and to establish which factors might impact on screening performance.Methods: A systematic review and meta-analysis of all relevant publications was performed to assess the diagnostic accuracy of two-dimensional transabdominal and transvaginal ultrasound in the detection of congenital fetal anomalies prior to 14 weeks' gestation. The reference standard was detection of abnormalities at birth or postmortem. Factors that may impact on detection rates were evaluated, including population characteristics, gestational age, healthcare setting, ultrasound modality, use of an anatomical checklist for detection of first-trimester anomalies and type of malformation included in the study. In an effort to reduce the impact of study heterogeneity on the results of the meta-analysis, data from the studies were analyzed within subgroups of major anomalies vs all types of anomaly and low-risk/unselected populations vs high-risk populations.Results: An electronic search (until 29 July 2015) identified 2225 relevant citations, from which a total of 30 studies, published between 1991 and 2014, were selected for inclusion. The pooled estimate for the detection of major abnormalities in low-risk or unselected populations (19 studies, 115 731 fetuses) was 46.10% (95% CI, 36.88-55.46%). The detection rate for all abnormalities in low-risk or unselected populations (14 studies, 97 976 fetuses) was 32.35% (95% CI, 22.45-43.12%), whereas in high-risk populations (six studies, 2841 fetuses) it was 61.18% (95% CI, 37.71-82.19%). Of the factors examined for their impact on detection rate, there was a statistically significant relationship (P < 0.0001) between the use of a standardized anatomical protocol during first-trimester anomaly screening and its sensitivity for the detection of fetal anomalies in all subgroups.Conclusions: Detection rates of first-trimester fetal anomalies ranged from 32% in low-risk groups to more than 60% in high-risk groups, demonstrating that first-trimester ultrasound has the potential to identify a large proportion of fetuses affected with structural anomalies. The use of a standardized anatomical protocol improves the sensitivity of first-trimester ultrasound screening for all anomalies and major anomalies in populations of varying risk. The development and introduction of international protocols with standard anatomical views should be undertaken in order to optimize first-trimester anomaly detection. Copyright © 2016 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 establish the incidence of fetal central nervous system (CNS) anomalies (including microcephaly), signs of congenital infection and fetal loss in pregnant women infected with Zika virus (ZIKV) and non-infected pregnant women in western French Guiana.Methods: This prospective cohort study was conducted between 1 January and 15 July 2016. We evaluated and compared clinical and fetal ultrasound examinations of 301 pregnant women with biological confirmation of ZIKV infection and 399 pregnant women who were negative for ZIKV infection.Results: Overall, the total number of fetuses with CNS involvement was higher in the infected than in the control group (9.0% vs 4.3%; relative risk, 2.11 (95% CI, 1.18-4.13)). Anomalies of the corpus callosum and presence of cerebral hyperechogenicities were significantly more common in the infected group. There was an increased risk of microcephaly in the infected compared with the control group (1.7% vs 0.3%; relative risk, 6.63 (95% CI, 0.78-57.83)), although this was not statistically significant. When the mother was infected during the first or second trimester, there was a greater risk of severe CNS involvement, more signs of infection and intrauterine fetal death than with infection in the third trimester. The rate of vertical transmission in the exposed group was 10.9%.Conclusion: ZIKV infection during pregnancy is associated with a significant risk of fetal CNS involvement and intrauterine fetal death, particularly when infection occurs during the first or second trimesters. Microcephaly was not present in every case of congenital ZIKV syndrome that we observed. Until more is known about this disease, it is paramount to evaluate suspected cases by detailed neurosonography on a monthly basis, paying particular attention to the corpus callosum and the presence of hyperechogenic foci. Copyright © 2017 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

Objectives: To assess potential differences in fetal size between the French population and the international population from the INTERGROWTH-21st (IG-21st ) Project and to measure the impact of switching to the IG-21st reference standards for fetal size.Methods: This was a nationwide cross-sectional study of fetal ultrasound biometry. Low-risk singleton pregnancies were recruited prospectively within the network of the national French College of Fetal Ultrasound, CFEF, over a 6-week period. Further selection was performed based on the criteria of the IG-21st Project in order to obtain a comparable population. Head circumference (HC) was used as the main fat-free skeletal measure of growth for comparison of French fetal size with that of the IG-21st population. The impact of switching to the IG-21st fetal growth standards was quantified by comparing Z-scores calculated using the IG-21st standards with those calculated using locally derived reference ranges for HC, abdominal circumference (AC) and femur length (FL).Results: Following selection, 4858 cases were analyzed. The distribution of HC demonstrated clear similarity between our French population and the IG-21st population: our observed centile curves closely matched those of IG-21st and the Z-scores were close to 0 across gestational age. The IG-21st standards performed as well as did locally derived charts in terms of screening for small-for-gestational age by AC, while they identified significantly fewer small FL values than were expected and than did the locally derived charts.Conclusions: Under strict selection criteria, fetal size in France is similar to that of the international population used in the IG-21st Project. The discrepancies in FL are unlikely to impact on prenatal management. Therefore, switching from locally derived reference ranges to the IG-21st standards appears to be a safe option. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the accuracy of an ultrasound-based scoring system for diagnosing morbidly adherent placenta (MAP).Methods: This study included pregnant women referred to our ultrasound unit during 2013-2015 because of suspected MAP on a previous ultrasound examination or because they had at least one previous Cesarean delivery. All women were assessed using a scoring system based on the following: number and size of placental lacunae; obliteration of the demarcation between the uterus and placenta; placental location; color Doppler signals within placental lacunae; hypervascularity of the placenta-bladder and/or uteroplacental interface zone; and number of previous Cesarean deliveries. Each criterion was assigned 0, 1 or 2 points and the sum of points yielded the final score. Patients were classified into low, moderate or high probability for MAP based on the final score. The presence of MAP was determined by the surgeon at delivery and clinical descriptions were documented in the electronic patient file. Pathological diagnoses were available only in cases that underwent hysterectomy.Results: In total, 258 pregnant women were included in the study, of whom 23 (8.9%) were diagnosed with MAP. There was a statistically significant difference in the prevalence of MAP when women were grouped according to the scoring system, with 0.9%, 29.4% and 84.2% in the low, moderate and high probability groups, respectively (P < 0.0001). All sonographic criteria of the scoring system were significantly associated with MAP (P < 0.0001). Receiver-operating characteristics (ROC) curves for prediction of MAP using the number of placental lacunae and obliteration of the uteroplacental demarcation yielded an area under the ROC curve of 0.94 (95% CI, 0.86-1.00).Conclusions: Our proposed scoring system is highly predictive of MAP in patients at risk. This allows an adequate multidisciplinary team approach for the planning and timing of delivery in such cases. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

Objective: To assess the risk of 22q11.2 deletion in fetuses with a prenatal diagnosis of right aortic arch without intracardiac anomalies (RAA-no ICA).Methods: This was a retrospective study of all fetuses with RAA-no ICA diagnosed prenatally at three referral centers, between 2004 and 2014. A detailed sonographic examination was performed in each case, including visualization of the thymus and of the head and neck vessels to identify the presence of an aberrant left subclavian artery (ALSA). Karyotyping and fluorescence in situ hybridization analysis for diagnosis of 22q11.2 deletion were always offered either prenatally or postnatally. Clinical and echocardiographic examinations were performed in livebirths and a postmortem examination in cases of termination of pregnancy.Results: During the study period, 85 fetuses were diagnosed prenatally with RAA-no ICA. Genetic or clinical data were not available for three cases and these were excluded from analysis. 22q11.2 deletion was found in 7/82 cases (8.5% (95% CI, 3.8-17.3%)). The thymus was small or non-visualized in all seven cases and additional abnormal sonographic findings were present in four.Conclusion: 22q11.2 deletion is present in a clinically significant proportion of fetuses with a prenatal diagnosis of RAA-no ICA. In such cases, a detailed sonographic examination, with assessment of the thymus in particular, may be useful to further define the level of risk for 22q11.2 deletion. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

Objectives: To compare the accuracy of two-dimensional ultrasound (2D-US), three-dimensional ultrasound (3D-US) and magnetic resonance imaging (MRI) for the diagnosis of congenital anomalies without prior knowledge of indications and previous imaging findings.Methods: This was a prospective, blinded case-control study comprising women with a singleton pregnancy with fetal congenital abnormalities identified on clinical ultrasound and those with an uncomplicated pregnancy. All women volunteered to undergo 2D-US, 3D-US and MRI, which were performed at one institution. Different examiners at a collaborating institution performed image interpretation. Sensitivity and specificity of the three imaging methods were calculated for individual anomalies, based on postnatal imaging and/or autopsy as the definitive diagnosis. Diagnostic confidence was graded on a four-point Likert scale.Results: A total of 157 singleton pregnancies were enrolled, however nine cases were excluded owing to incomplete outcome, resulting in 148 fetuses (58 cases and 90 controls) included in the final analysis. Among cases, 13 (22.4%) had central nervous system (CNS) anomalies, 40 (69.0%) had non-CNS anomalies and five (8.6%) had both CNS and non-CNS anomalies. The main findings were: (1) MRI was more sensitive than 3D-US for diagnosing CNS anomalies (MRI, 88.9% (16/18) vs 3D-US, 66.7% (12/18) vs 2D-US, 72.2% (13/18); McNemar's test for MRI vs 3D-US: P = 0.046); (2) MRI provided additional information affecting prognosis and/or counseling in 22.2% (4/18) of fetuses with CNS anomalies; (3) 2D-US, 3D-US and MRI had similar sensitivity for diagnosing non-CNS anomalies; (4) specificity for all anomalies was highest for 3D-US (MRI, 85.6% (77/90) vs 3D-US, 94.4% (85/90) vs 2D-US, 92.2% (83/90); McNemar's test for MRI vs 3D-US: P = 0.03); and (5) the confidence of MRI for ruling out certain CNS abnormalities (usually questionable for cortical dysplasias or hemorrhage) that were not confirmed after delivery was lower than it was for 2D-US and 3D-US.Conclusions: MRI was more sensitive than ultrasonography and provided additional information that changed prognosis, counseling or management in 22.2% of fetuses with CNS anomalies. False-positive diagnoses for subtle CNS findings were higher with MRI than with ultrasonography. Copyright © 2015 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 describe the sonographic appearance of fetal posterior fossa anatomy at 11-14 weeks of pregnancy and to assess the outcome of fetuses with increased intracranial translucency (IT) and/or brainstem-to-occipital bone (BSOB) diameter.Methods: Reference ranges for brainstem (BS), IT and cisterna magna (CM) measurements, BSOB diameter and the BS : BSOB ratio were obtained from the first-trimester ultrasound examination of 233 fetuses with normal postnatal outcome (control group). The intraobserver and interobserver variability of measurements were investigated using 73 stored ultrasound images. In addition, a study group of 17 fetuses with increased IT and/or BSOB diameter was selected to assess outcome.Results: No significant intraobserver or interobserver variability was found for any measurement in the control group. In the study group, IT was increased in all cases and BSOB diameter was above the 95(th) centile of the calculated normal range in all but two (88%) cases. In 13/17 study cases, only two of the three posterior brain spaces were recognized on ultrasound. These 13 fetuses had a larger BSOB diameter than did the four cases that showed all three posterior brain spaces, and had severe associated anomalies including Dandy-Walker malformation (DWM) and/or chromosomal anomalies.Conclusions: Visualization of the fetal posterior fossa anatomy at 11-14 weeks' gestation is feasible. Increased fluid in the posterior brain at 11-14 weeks, particularly in the case of non-visibility of the septation that divides the future fourth ventricle from the CM, is an important risk factor for cystic posterior fossa malformations, in particular DWM, and/or chromosomal aberrations. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

Objective: To evaluate prospectively the performance of Fetal Intelligent Navigation Echocardiography (FINE) applied to spatiotemporal image correlation (STIC) volume datasets of the normal fetal heart.Methods: In all women between 19 and 30 weeks' gestation with a normal fetal heart, an attempt was made to acquire STIC volume datasets of the apical four-chamber view if the following criteria were met: (1) fetal spine located between 5- and 7-o'clock positions; (2) minimal or absent shadowing (including a clearly visible transverse aortic arch); (3) absence of fetal breathing, hiccups, or movement; and (4) adequate image quality. Each STIC volume successfully acquired was evaluated by STICLoop™ to determine its appropriateness before applying the FINE method. Visualization rates of fetal echocardiography views using diagnostic planes and/or Virtual Intelligent Sonographer Assistance (VIS-Assistance®) were calculated.Results: One or more STIC volumes (365 in total) were obtained successfully in 72.5% (150/207) of women undergoing ultrasound examination. Of the 365 volumes evaluated by STICLoop, 351 (96.2%) were considered to be appropriate. From the 351 STIC volumes, only one STIC volume per patient (n = 150) was analyzed using the FINE method, and consequently nine fetal echocardiography views were generated in 76-100% of cases using diagnostic planes only, in 98-100% of cases using VIS-Assistance only, and in 98-100% of cases when using a combination of diagnostic planes and/or VIS-Assistance.Conclusions: In women between 19 and 30 weeks' gestation with a normal fetal heart undergoing prospective sonographic examination, STIC volumes can be obtained successfully in 72.5% of cases. The FINE method can be applied to generate nine standard fetal echocardiography views in 98-100% of these cases using a combination of diagnostic planes and/or VIS-Assistance. This suggests that FINE could be implemented in fetal cardiac screening programs. Published 2015. This article is a U.S. Government work and is in the public domain in the USA. [ABSTRACT FROM AUTHOR]

Objectives: To evaluate the accuracy of ultrasound in the diagnosis of placenta accreta and its variants, and to assess the impact of prenatal diagnosis in our population. Methods: A total of 314 women with placenta previa were enrolled prospectively and underwent transabdominal and transvaginal ultrasound examinations. An ultrasound diagnosis (grayscale and color/power Doppler) of placental attachment disorder (PAD) was based on the detection of at least two of the following ('two-criteria system'): loss/irregularity of the retroplacental clear zone, thinning/interruption of the uterine serosa-bladder wall interface, turbulent placental lacunae with high velocity flow, myometrial thickness < 1 mm, increased vascularity of the uterine serosa-bladder wall interface, loss of vascular arch parallel to the basal plate and/or irregular intraplacental vascularization. Definitive diagnosis was made at delivery by Cesarean section. Maternal outcome in cases diagnosed antenatally was compared with that in cases diagnosed at delivery. Results: There were 37/314 cases of PAD (29 anterior and eight posterior). The two-criteria system identified 30 cases of placenta accreta, providing a sensitivity of 81.1% and specificity of 98.9%. When anterior and posterior placentae were considered separately, the detection rates of PAD were 89.7 and 50.0%, respectIvely. Maternal outcome was better in women with prenatal diagnosis of PAD, as seen by less blood loss and shorter hospitalization. Conclusions: Our data confirmed that grayscale and color Doppler ultrasound have good performance in the diagnosis of PAD and that prenatal diagnosis improves maternal outcome. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

Although the incidence of morbidly adherent placenta (MAP) has risen progressively in the last two decades, there remains uncertainty about the diagnosis and management of this condition. The aim of this review is to provide up-to-date and evidence-based answers to common clinical questions regarding the diagnosis and management of MAP. Different risk factors have been associated with MAP; however, previous Cesarean section and placenta previa are the most frequently associated. Ultrasound is the primary method for diagnosing MAP and has a good overall diagnostic accuracy for its detection. When considering the different ultrasound signs of MAP, color Doppler seems to provide the best diagnostic performance. Magnetic resonance imaging has the same accuracy in diagnosing MAP as does ultrasound examination; its use should be considered when a resective procedure, such as hysterectomy, is planned as it can provide detailed information about the topography of placental invasion and predict difficulties that may arise in surgery. The optimal gestational age for delivery in pregnancies with MAP is yet to be established; planning surgery between 34 and 36 weeks of gestation provides the best balance between fetal maturity and the risk of unexpected episodes of heavy bleeding, which are more likely to occur with delivery after this timepoint, especially in severe cases of MAP. The optimal surgical approach to MAP depends on multiple factors, including availability of an experienced team, specific surgical skills and hospital resources. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

We report a specific sonographic cerebral pattern of cobblestone lissencephaly (CL) that has not been described previously. This pattern was encountered in four index cases and allowed prenatal diagnosis of CL associated with Walker-Warburg syndrome. The pattern included both an outer echogenic band with reduced pericerebral space, corresponding to an infra- and supratentorial extracortical layer of neuroglial overmigration on pathological examination, and a 'Z'-shaped appearance of the brainstem. This pattern was found as early as 14 weeks' gestation in one of our cases. [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]

The article offers information on the study that examines the role of fetal magnetic resonance imaging (MRI) in the prenatal diagnosis of facial clefts. It notes that 34 pregnant women with a mean gestational age of 26 weeks who underwent in utero MRI were the subjects in the study. The study finds that MRI offers better detection and classification of facial clefts than ultrasound alone.

The article presents a study that identifies the sonographic dimensions of the facial profile of the fetus in normal pregnancy. The study was undertaken through a cross-sectional study of 397 normal healthy fetus at 14-33 weeks of gestation. Results of the study showed that there was a significant linear correlation between the gestational age (GA) of the fetus and the distance from the tip of its nose to its mouth which can be used as a tool for the diagnosis of abnormal fetal facial pressure.

The article presents a study which aims to discover potential ultrasound parameters for early diagnosis of alcohol-mediated fetal somatic and maldevelopment of central nervous system (CNS). The study was carried out at two areas in Ukraine from 2004-2006 involving pregnant women who were known to consume moderate-to-heavy quantities of alcohol after responding to a comprehensive maternal interview. Results showed that alcohol-exposed fetuses had lighter femur length and frontothalamic distance.

The article presents a study that evaluates the completion rate of anatomic surveys of fetuses in obese and overweight gravid patients. Patients were all reviewed for first-attempt fetal anatomic ultrasound assessment of singleton pregnancies from 15-24 weeks of gestation. The study revealed that obese patients have lower completion rates for significant anatomic surveys and necessitate an increase in the number of sonograms as compared with their peers with normal weight.

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.

The article presents a study which examines the use of medical literature reporting on ultrasound factors as predictive factors for the outcome of an attempt at external cephalic version (CEV). The researchers found out that the success of an ECV attempt is linked to ultrasound parameters such as fetal position, amniotic fluid and placental location. Moreover, these findings can be used to develop prognostic model to predict successful ECV.

The article investigates the outcome of fetuses diagnosed with short femur length at the time of the routine anomaly scan. The finding of isolated short femur at 18-24 weeks in a population previously screened by first-trimester fetal nuchal translucency measurement is unlikely to be due to aneuploidy. Severe intrauterine growth restriction (IUGR) related to high mortality occurs in 40%, making uterine artery Doppler evaluation a useful clinical tool.

Objective: The objective of this study was to assess the maternal and prenatal ultrasound findings and outcome in pregnancies complicated by congenital myotonic dystrophy Type 1 (DM1). Methods: A retrospective chart review of all patients with a diagnosis of DM1 and pregnancy presenting to the Oxford Radcliffe Hospital between 1990 and 2004 was undertaken. Obstetric case notes were reviewed and details of all pregnancies obtained. This included data on prenatal diagnostic tests and obstetric ultrasound scans performed as well as pregnancy complications and pregnancy outcome. Maternal and fetal CTG expansion size was also recorded where available. Maternal genetic case notes were reviewed for details of maternal grip myotonia. Results: Sixty pregnancies among 26 couples in which one of the parents was a carrier of DM1 were identified during the study period. These resulted in 36 (60%) pregnancies affected by congenital DM1 and 19 (31.7%) unaffected pregnancies. There were four miscarriages and one termination of pregnancy for non-medical reasons. Nineteen of the 36 affected pregnancies ended in termination following the antenatal diagnosis of congenital DM1 by either chorionic villus sampling (CVS) or amniocentesis. In the remaining 17 affected pregnancies (16 singleton and one twin) there was one miscarriage of an affected fetus with co-existing Down syndrome and eight perinatal deaths. The principal cause of perinatal death was respiratory failure in the early neonatal period. Antenatally noted clinical/sonographic abnormalities in these pregnancies included polyhydramnios (100%), talipes (26.6%) and borderline ventriculomegaly (13.3%). Uni- or bilateral talipes was noted at delivery in 10 of 16 (62.5%) neonates. Maternal grip myotonia was present in all but one of these cases. Conclusion: The antenatal findings of polyhydramnios and talipes should prompt a search for maternal grip myotonia. If present, definitive testing for congenital DM1 should be considered. [ABSTRACT FROM AUTHOR]

Objectives To assess and compare the accuracy of clinical and sonographic fetal weight estimation in predicting birth weight prior to induction of labor. Methods In a prospective study of 262 women immediately prior to induction of labor, the fetal weight was estimated clinically by both the doctor (DR EFW) and the woman herself (WM EFW). A transabdominal scan was then performed to estimate the fetal weight sonographically using two different formulae — Shepard (SHEP EFW) and Hadlock (HAD EFW). The four estimated fetal weights were compared with the actual birth weight. Results The mean percentage error was -1.9 + 9.3% for DR EFW, -3.4±12.6% for WM EFW, -2.3±11.6% for SHEP EFW and -7.6±10.6% for HAD EFW. All four EFWs were significantly different from birth weight (t = -4.7, -5.5, -3.5 and -11.4, respectively, all P < 0.01). The corresponding proportion of the EFWs which were within 10% of birth weight were 71%, 59%, 62% and 42%, respectively. The sensitivity and specificity of detecting a fetus weighing <3000 g were 56% and 98% for DR EFW, 90% and 89% for WM EFW, 93% and 83% for SHEP EFW and 100% and 76% for HAD EFW. The corresponding values for detecting a fetus weighing >4000 g were 16% and 99%, 29% and 96%, 48% and 92% and 40% and 94%, respectively. Conclusions Although, in general, clinical estimates of birth weight perform favorably compared with ultrasonographic estimates, ultrasound immediately prior to labor is more accurate at predicting the low- or high- birth-weight fetus. [ABSTRACT FROM AUTHOR]

Objectives: To ascertain whether the risk for congenital malformations is increased in pregnancies with deviating fetal growth, i.e. in those in which the estimated date of delivery (EDD) was postponed more than 1 week at the second-trimester ultrasound fetometry scan, or those suspected of intrauterine growth restriction at routine ultrasound fetometry in the third trimester. Methods: The study period was 1994-2003. We used the Swedish Medical Birth Register to identify pregnancies with appropriate data (n = 605 845). A regional ultrasound database consisting of 73 092 pregnancies was used for more detailed data and analysis of the third-trimester fetal growth. The number of congenital malformations was ascertained from three national health registers. Results: We found a moderately increased risk for any malformation in the group of fetuses in which the EDD was postponed > 1 week. The strongest effect was seen for chromosome anomalies and central nervous system malformations, including neural tube defects. In the third trimester, an increased risk for fetal malformations was found in asymmetrically vs. symmetrically growth-restricted fetuses, perhaps more strongly when adjustment of the EDD had been done at the dating scan. Conclusions: Fetuses in which the EDD differs between that calculated by the last menstrual period and that calculated by second-trimester ultrasound measurement seem to have an increased risk for congenital malformations, including chromosomal anomalies. A targeted ultrasound examination for malformation screening might be recommended for this group. A similar policy might be recommended when intrauterine growth restriction, especially of the asymmetrical type, is suspected later in pregnancy. [ABSTRACT FROM AUTHOR]

Objective To evaluate the effectiveness of a novel approach to the visualization of the fetal secondary palate using three-dimensional (3D) ultrasound. Methods Sonographic examinations were performed in normal fetuses and in one fetus with cleft lip and palate. To avoid acoustic shadowing from the alveolar ridge, the secondary palate was insonated at a 45° angle in the sagittal plane, and 3D ultrasound was used to reconstruct axial and coronal planes. Results The secondary palate was successfully visualized in 10 of 15 normal fetuses, both in the axial and coronal planes. In the fetus with cleft lip and palate the lesion of the secondary palate was clearly demonstrated, particularly in the coronal plane. Conclusion Angled insonation and 3D ultrasound allow clear visualization of normal and cleft secondary palate. [ABSTRACT FROM AUTHOR]

Objective: To elucidate the characteristic morphological features that may help in the prenatal differential diagnosis of absent septum pellucidum as demonstrated by ultrasound. Methods: Twenty-six fetuses were referred to the fetal neurology clinic due to mild to severe ventriculomegaly and a connection between the lateral ventricles. The following ultrasonographic features were evaluated: place and extent of the ventricular communication, non-cleavage of the hemispheres and deep gray nuclei, callosal anomalies, position of the choroid plexus, and other central nervous system and facial or body anomalies. A flowchart was created in order to facilitate the final diagnosis. Results: The presence of non-cleavage and/or characteristic facial anomalies prompted the diagnosis of holoprosencephaly (HPE) in 14 fetuses, including two fetuses with the middle interhemispheric variant. Ten fetuses were diagnosed as having hydrocephalus based on the lack of the same features and the observation that the communication between the lateral ventricles was at the level of the third ventricle with almost normal anterior and posterior segments. In two fetuses the diagnosis of septo-optic dysplasia vs. isolated agenesis of the cavum septi pellucidi was contemplated. Conclusions: The use of the proposed flowchart enabled differentiation between hydrocephalus and HPE. The communication between the ventricles in hydrocephalic fetuses may be due to a disruption of the septum pellucidum or to a pathological enlargement of the foramen of Monro. Published by John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

Objectives To determine the level of patient knowledge regarding the 20-week screening ultrasound examination, which is performed on over 95% of women in our unit, and to ascertain whether the use of targeted education could improve patient knowledge and expectations, to determine from where patients obtained information on the scan and to ascertain whether patients felt they had chosen to undergo the scan. Methods An anonymous questionnaire was issued to all patients attending for their 20-week scan over a 3-week period in July 2002 (n = 220). There were nine questions, focusing on maternal choice, information and knowledge. As a result of the information obtained, we undertook a program of education for hospital and community medical and midwifery staff. A printed information sheet given to the patients at the time of booking their 20-week scan was introduced. We then issued the questionnaire for another 3-week period in July 2003 (n = 171). Results As a result of our education program, there was a significant increase in the number of women answering various knowledge-based questions correctly about the 20-week scan, in those using the written information provided as a source of information (P < 0.0001), and in those who felt they had been involved in the decision to have the scan (P = 0.003). Conclusions Patients need to be better informed about the 20-week scan, and choose whether or not to have it. Health professionals are pivotal in this process. While written information helps to reinforce the information given, alone it has only a small effect. [ABSTRACT FROM AUTHOR]

Objectives Ultrasound scan in the mid-trimester of pregnancy is now a routine part of prenatal care in most European countries. The objective of this study was to evaluate the prenatal diagnosis of dysmorphic syndromes by fetal ultrasound examination. Methods Data from 20 registries of congenital malformations in 12 European countries were included in the study. Results There were 2454 cases with congenital heart diseases, 479 of which were recognized syndromes, including 375 chromosomal anomalies and 104 syndromes without chromosomal anomalies. Fifty-one of the 104 were detected prenatally (49.0%). One hundred and ninety-two of 1130 cases with renal anomalies were recognized syndromes, including 128 chromosomal anomalies and 64 syndromes without chromosomal anomalies; 162 of them (84.4%) were diagnosed prenatally, including 109 chromosomal anomalies and 53 non-chromosomal syndromes. Fifty-four of the 250 cases with limb defects were recognized syndromes, including 16 chromosomal syndromes and 38 syndromes without chromosomal anomalies; 21 of these 54 syndromes were diagnosed prenatally (38.9%), including 9 chromosomal syndromes. There were 243 cases of abdominal wall defects including 57 recognizable syndromes, 48 with omphalocele and 9 with gastroschisis; 48 were diagnosed prenatally (84.2%). Twenty-six of the 187 cases with diaphragmatic hernia had recognized syndromes, including 20 chromosomal aberrations and 6 syndromes without chromosomal anomalies. Twenty-two of them (84.6%) were detected prenatally. Sixty-four of 349 cases with intestinal anomalies were recognized syndromes; 24 were diagnosed prenatally (37.5%). There were 553 cases of cleft lip and palate (CL(P)) and 198 of cleft palate (CP) including 74 chromosomal anomalies and 73 recognized non-chromosomal syndromes. Prenatal diagnosis was made in 51 cases of CL(P) (53.7%) and 7 of CP (13.7%). Twenty-two of 188 anencephalic cases were syndromic and all were diagnosed prenatally. 0f290 cases with spina bifida, 18 were recognized syndromes, and of them 17 were diagnosed prenatally. All 11 syndromic encephaloceles were diagnosed prenatally. Conclusions Around 50% of the recognized syndromes which are associated with major congenital anomalies (cardiac, renal, intestinal, limb defects, abdominal wall defects and oral clefts) can be detected prenatally by the anomaly scan. However the detection rate varies with the type of syndrome and with the different countries' policies of prenatal screening. [ABSTRACT FROM AUTHOR]

AbstractObjectivesAlthough prenatal ultrasound is broadly used to detect abnormal fetuses, the variability in the interpretation of second-trimester prenatal ultrasound examinations is unknown. We sought to evaluate the consistency of the interpretation of prenatal ultrasound examinations. DesignPhysicians who perform prenatal ultrasound and who participate in the California Maternal Serum Expanded AFP program were asked to interpret a series of test ultrasound examinations. The series of cases was selected to include a random sample of fetal structural abnormalities, ultrasound markers that have been associated with chromosomal abnormalities, and normal cases. Interobserver agreement was evaluated using a κ statistic for each organ system. The sensitivity and false-positive rate were calculated for detecting specific anatomic abnormalities within each organ system. ResultsOf the 210 sonologists eligible for inclusion in the study, completed responses were received from 148 (70%). There was moderate to substantial agreement between physicians in reporting the presence of fetal abnormalities for all organ systems (κ range 0.40–0.88, P < 0.001). The consistency was highest for the central nervous system (CNS), neck, and face. Within each organ system, the consistency was similar for major structural abnormalities and ultrasound markers of chromosomal abnormalities. The sensitivity ranged from 62% (95% confidence interval (CI) 58–66%) for major renal abnormalities to 91% (95% CI 88–94%) for CNS abnormalities, with corresponding false-positive rates of 7% (95% CI 6–9%) for renal abnormalities and 9% (95% CI 7–11%) for CNS abnormalities. For most organ systems, the sensitivity for detecting ultrasound markers of chromosomal abnormalities was similar to the sensitivity for detecting structural abnormalities. ConclusionThere is moderate to substantial agreement in the interpretation of second-trimester prenatal ultrasound examinations. Whether the identification of specific ultrasound abnormalities and markers is overall beneficial to patients remains to be determined. [ABSTRACT FROM AUTHOR]

To demonstrate a standardized approach for the evaluation of cleft lip and palate by three-dimensional (3D) ultrasonography. This was a retrospective study of seven fetuses with confirmed facial cleft anomalies. Post-natal findings were compared to a blinded review of 3D volume data from abnormal fetuses with seven other normal fetuses that were matched for gestational age. Upper lip integrity was examined by 3D multiplanar imaging. Sequential axial views were used to evaluate the maxillary tooth-bearing alveolar ridge contour and anterior tooth socket alignment. Alveolar ridge disruption suggested cleft palate. Premaxillary protrusion, either by multiplanar imaging or surface rendering, indicated bilateral cleft lip and palate. Post-natal findings confirmed bilateral cleft lip and palate (four cases), unilateral cleft lip and palate (one case), and unilateral cleft lip (two cases). Multiplanar review identified all three fetuses with unilateral cleft lip, three of four fetuses with bilateral cleft lip, one fetus with unilateral cleft palate, and three of four fetuses with bilateral cleft palate. Surface rendering correctly identified all cleft lips, with the exception of one fetus, who was thought to have a unilateral cleft lip and palate, despite the actual presence of a bilateral lesion. One cleft palate defect was directly visualized by 3D surface rendering. No false-positives occurred. Interactive review of standardized 3D multiplanar images allows one to evaluate labial defects, abnormalities of the maxillary tooth-bearing alveolar ridge, and presence of premaxillary protrusion for detecting cleft lip and palate anomalies. Surface rendering may increase diagnostic confidence for normal or abnormal studies. This technology provides an array of visualization tools that may improve the prenatal characterization of facial clefts, particularly of the palate. [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]

Fetal malignant tumors are rare. We present a case of intrauterine diagnosis of a diaphragmatic tumor presenting with fetal hydrops at 32 weeks' gestation. The sonographic findings were bilateral pleural effusion, ascites and skin edema. A large right-sided diaphragmatic tumor was identified. Owing to the findings on ultrasound and magnetic resonance imaging a solid malignant tumor was suspected. The pleural effusions were drained and malignant cells identified. Because of rapid tumor progression Cesarean section was performed and a hydropic female newborn was delivered at 34 + 0 weeks' gestation. There was no sign of metastatic disease. Postnatally tumor biopsy revealed an alveolar rhabdomyosarcoma. Therapy included chemotherapy and secondary surgical intervention. After a good primary response with complete remission after 6 months, the rhabdomyosarcoma relapsed at 12 months with cerebral metastasis. The prognosis was poor. Copyright © 2012 ISUOG. Published by John Wiley & Sons, Ltd. [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]

Cervical chondrocutaneous vestiges or remnants originate from anomalous development of the branchial arches in the fourth week of gestation. Owing to their relative rarity, published data of cervical chondrocutaneous vestiges remain scarce. We report on the diagnosis and associated anomalies of cervical chondrocutaneous vestiges in three fetuses. The association of cervical chondrocutaneous vestige with other anomalies emphasizes the importance of performing meticulous examination and biochemical marker analysis in affected cases. [ABSTRACT FROM AUTHOR]

The prenatal diagnosis of a complete cleft sternum was established in a fetus of a twin pregnancy at 22 weeks' gestation. We present the prenatal imaging and correlation with postnatal magnetic resonance imaging and high-resolution ultrasonography. Thinned and depressed midline anterior chest wall transmitting the cardiac pulsation was the clue to the diagnosis, and the defective sternum could be identified on close sonographic observation. Successful surgical correction was undertaken at 2 months of age. There were no mayor associated abnormalities such as ectopia cordis or midline abdominal wall defects. [ABSTRACT FROM AUTHOR]

Standard sonographic views of the brain obtained along the axial planes at mid-gestation failed to identify absence of the septum pellucidum in two consecutive fetuses. It was presumably the close proximity of the walls of the lateral ventricles that generated an artifact resembling a normal cavum septi pellucidi. In one of these fetuses, septo-optic dysplasia was confirmed by magnetic resonance demonstration of hypoplastic optic tracts. In the other fetus, isolated absence of the septum pellucidum was the final diagnosis. Standard axial scans are unreliable in predicting absence of the septum pellucidum in the mid-trimester fetus when the lateral ventricles are normal in size. [ABSTRACT FROM AUTHOR]

Congenital megalourethra is a rare disorder characterized by the congenital absence of the corpus spongiosum and/or corpus cavernosum, leading to dilatation of the urethra. We present a case of congenital megalourethra diagnosed by ultrasound examination at 13 weeks of gestation. Transabdominal and transvaginal sonography showed gross megacystis, bilateral hydronephrosis and a cystic dilatation of the penis. Transabdominal needle embryoscopy confirmed a balloon dilatation of the fetal penis. The pregnancy was terminated by suction curettage. [ABSTRACT FROM AUTHOR]