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Objective: Congenital cytomegalovirus (CMV) infection is the leading cause of non‐genetic hearing and neurological deficits. The aim of our study was to evaluate the efficacy and safety of valacyclovir (VCV) treatment in preventing CMV transmission to the fetus after maternal primary infection. Methods: This was a retrospective, multicenter study evaluating the rate of maternal–fetal CMV transmission in pregnancies with maternal primary CMV infection treated with VCV at a dosage of 8 g per day (VCV group) compared with a control group of untreated women. Each case underwent virological testing to confirm maternal primary infection and to provide accurate dating of onset of infection. The primary outcome was the presence of congenital CMV infection at birth diagnosed based on polymerase chain reaction analysis of saliva, urine and/or blood samples. The efficacy of VCV treatment was assessed using logistic regression analysis adjusted for a propensity score. Results: In total, 143 patients were included in the final analysis, of whom 59 were in the VCV group and 84 were in the untreated control group. On propensity‐score‐adjusted analysis, VCV treatment was significantly associated with an overall reduction in the rate of maternal–fetal CMV transmission (odds ratio, 0.40 (95% CI, 0.18–0.90); P = 0.029). The rate of maternal–fetal CMV transmission, determined at birth, in the VCV vs control group was 7% (1/14) vs 10% (1/10) after periconceptional maternal primary infection (P = 1.00), 22% (8/36) vs 41% (19/46) after first‐trimester maternal primary infection (P = 0.068) and 25% (2/8) vs 52% (14/27) after second‐trimester maternal primary infection (P = 0.244). When analyzing the efficacy of VCV treatment according to maternal viremia at treatment initiation, there was a trend towards greater efficacy when patients were viremia‐positive (21% vs 43%; P = 0.072) compared with when they were viremia‐negative (22% vs 17%; P = 0.659). Maternal side effects associated with VCV were mild and non‐specific in most cases. Conclusion: Our findings indicate that VCV treatment of pregnant women with primary CMV infection reduces the risk of maternal–fetal transmission of CMV and may be effective in cases with primary infection in the first and second trimesters. © 2022 International Society of Ultrasound in Obstetrics and Gynecology. Linked article: There is a comment on this article by Han and Li. Click here to view the Correspondence. [ABSTRACT FROM AUTHOR]

Objective Since 1998, French multidisciplinary prenatal diagnosis centers (CPDPN) offer a training opportunity to first-level screening sonographers. This study measures the impact of this training on prenatal detection rates of congenital heart diseases (CHDs). Methods We analyzed the sensitivity of screening sonographers by comparing CHD prenatal diagnoses and CHDs observed after birth in the area of Angers from 1994 to 2006. Two groups of sonographers were compared, those who attended the training ( n = 19) and those who did not (control group. n = 21). The evolution of CHD detection rate was compared between two successive periods of 6 years each. Results Of 947 CHDs, 438 (46%) were detected prenatally. The control group sensitivity was 16 versus 37% for the sonographers who had attended the training course ( p < 0.001). Between the two study periods, detection rates for all CHDs and significant CHDs remained unchanged in the control group, whereas they improved significantly in the other group (respectively 54% vs 33% and 75% vs 38%, p < 0.05). Conclusion This study supports the hypothesis of a beneficial effect of CPDPN on prenatal diagnosis of CHDs. These centers not only fulfill their primary purpose but also operate as learning centers in which screening sonographers may improve their practice. Copyright © 2008 John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

For each case, we retrieved data on maternal follow-up, prenatal US, fetal MRI and neonatal US. The objective of our study was to compare ultrasounds (US) and magnetic resonance imaging (MRI) obtained in the antenatal period in the diagnosis of congenital periventricular pseudocysts (PVPC) and compare these with the neonatal US. Fetal US detection of PVPC was performed at a median gestational age of 31.2 (18.6-34.3) weeks of gestation (WG) and fetal MRI was performed at 33.1 (26.3-37.1) WG. [Extracted from the article]

Septo-optic dysplasia (SOD; De Morsier syndrome) is a rare congenital disorder characterized by the absence of the septum pellucidum (SP), hypoplasia of the optic chiasma and nerves, and various types of hypothalamic-pituitary dysfunction. We report on two fetuses with absence of the SP diagnosed by ultrasound examination at 29 and 30 gestational weeks. In the first case the diagnosis of SOD was suspected in utero and confirmed postnatally; to the best of our knowledge this is the first report of the prenatal diagnosis of SOD. In the second case absence of the SP appeared to be isolated and no visual or endocrine impairment were detected after birth. [ABSTRACT FROM AUTHOR]

Several reports have described the autoimmune encephalitis' (AE) possible onset during pregnancy. In this systematic review, we summarize the available data on the diagnostic and therapeutic approach to AE during pregnancy, highlighting the associated maternal and fetal clinical outcomes. A systematic search of the literature was performed. The following databases were used: PubMed, Google Scholar, EMBASE, and CrossRef. The revision was registered on the PROSPERO platform (CRD42022336357). Forty‐nine patients were included. AE onset was mainly observed during the first and the second trimester of pregnancy with psychiatric manifestations and seizures as main onset symptoms. CSF analysis showed AE‐specific autoantibody positivity in 33 patients (anti‐NMDA receptor as the most frequent). EEG generally showed normal findings. MRI revealed pathological findings in less than half of patients. Tumor screening was positive in 14 cases. First‐line immunotherapy (single or combined) was generally employed while second line was administered in a minority of patients. Levetiracetam was the most used antiseizure medication. Cesarean section was performed in 18 women. Most of the women had an excellent early outcome after delivery but 22 showed persistent neurological deficits in long‐term follow‐up. Fetal outcome was positive in 33 cases, whereas 12 cases of fetal death were reported. A logistic regression showed that no variable significantly influenced the odds of good/bad maternal and fetal clinical outcome. Diagnosis and treatment of AE during pregnancy is challenging. The rate of miscarriage in women with AE seems to be higher than the general population. In addition, mothers may show long‐term neurological deficits. [ABSTRACT FROM AUTHOR]

Objective: To assess the effectiveness, cost and cost‐effectiveness of four screening strategies for first‐trimester (T1) cytomegalovirus (CMV) primary infection (PI) in pregnant women in France. Methods: In a simulated pregnant population of 800 000 (approximate number of pregnancies each year in France), using costs based on the year 2022, we compared four CMV maternal screening strategies: Strategy S1, no systematic screening (current public health recommendations in France); Strategy S2, screening of 25–50% of the pregnant population (current screening practice in France); Strategy S3, universal screening (current medical recommendations in France); Strategy S4, universal screening (as in Strategy S3) in conjunction with valacyclovir in case of T1 PI. Outcomes were total cost, effectiveness (number of congenital infections, number of diagnosed infections) and incremental cost‐effectiveness ratio (ICER). Two ICERs were calculated, comparing Strategies S1, S2 and S3 in terms of euros (€) per additional diagnosis, and comparing Strategies S1 and S4 in € per avoided congenital infection. Results: Compared with Strategy S1, Strategy S3 enabled diagnosis of 536 more infected fetuses and Strategy S4 prevented 375 congenital infections. Strategy S1 was the least expensive strategy (€98.3m total lifetime cost), followed by Strategy S4 (€98.6m), Strategy S2 (€106.0m) and Strategy S3 (€118.9m). In the first analysis, Strategy S2 was dominated and Strategy S3 led to an additional €38 552 per additional in‐utero diagnosis, compared with Strategy S1. In the second analysis, Strategy S4 led to an additional €893 per avoided congenital infection compared with Strategy S1, and was cost‐saving compared with Strategy S2. Conclusions: In France, current screening practice for CMV PI during pregnancy is no longer acceptable in terms of cost‐effectiveness because this strategy was dominated by universal screening. Moreover, universal screening in conjunction with valacyclovir treatment would be cost‐effective compared with current recommendations and is cost‐saving compared with current practice. © 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 characterize incidence of mandibular anomalies (MAs) and compare gestational age, airway interventions, and complications among individuals with MA phenotypes (isolated retrognathia, isolated micrognathia, syndromic micrognathia, micrognathia plus cleft palate/cleft lip and palate, agnathia/micrognathia plus cervical auricle/otocephaly, and agnathia/micrognathia plus microstomia) and unaffected individuals., Methods: The Healthcare Cost and Utilization Project Kids' Inpatient Database was used to collect data over a 20-year period beginning in 2000. Interventions were classified as perinatal when performed on day of life (DOL) 0 or 1 and subsequent when performed during the birth hospitalization after DOL 1. Hypoxic complications included cardiac arrest, birth asphyxia, hypoxic-ischemic encephalopathy, anoxic brain damage, intraventricular hemorrhage or cerebral infarction. Descriptive statistics are reported, and the Rao-Scott chi-square test compared groups., Results: MAs affected 119 per 100,000 birth visits. Preterm delivery was more frequent for all MA phenotypes. Individuals with MA phenotypes are more likely to require medical attention (airway intervention on DOL 0 or 1 OR no airway intervention received but patient sustained hypoxic complication/mortality): 16.2%-70.7% vs. 3.8%, p < 0.01. Despite receipt of airway interventions at a higher rate, collectively individuals with MAs who received an airway intervention on DOL 0 or 1 have a mildly elevated risk of hypoxic complication or mortality (32.4% vs. 26.4%, p < 0.01)., Conclusions: Preterm birth is more common, however, does not account for the elevated rate of airway intervention. Individuals with MAs require higher rates of medical attention, and current airway management paradigms are insufficient to prevent complications and mortality., Level of Evidence: III Laryngoscope, 2024., (© 2024 The Author(s). The Laryngoscope published by Wiley Periodicals LLC on behalf of The American Laryngological, Rhinological and Otological Society, Inc.)

Objective: Universal screening for cytomegalovirus (CMV) infection in pregnancy is not recommended in most countries. One of the major deterrents is the lack of effective prenatal therapy. The role of valacyclovir therapy in reducing the risk of vertical transmission, symptomatic congenital CMV infection and adverse outcome is controversial. The main aim of this systematic review and meta‐analysis was to investigate the safety and effectiveness of prenatal valacyclovir therapy in pregnancies with maternal CMV infection. Methods: MEDLINE, EMBASE and Cochrane databases and ClinicalTrials.gov were searched. The inclusion criteria were pregnancy with confirmed maternal CMV infection, treated or untreated with valacyclovir. The primary outcome was the incidence of congenital CMV infection confirmed by a positive CMV polymerase chain reaction result of the amniotic fluid. The secondary outcomes were symptomatic and asymptomatic infection, perinatal death, termination of pregnancy, anomalies detected on follow‐up ultrasound, on fetal magnetic resonance imaging or at birth, severe and mild‐to‐moderate symptoms due to congenital CMV infection, neurological, visual and hearing symptoms, and adverse events related to valacyclovir. Risk of bias was assessed using the revised Cochrane risk‐of‐bias tool for randomized trials (RoB 2) or Risk Of Bias In Non‐randomized Studies of Interventions (ROBINS‐I) tool, as appropriate. Head‐to‐head meta‐analyses were used to compare the risk of each of the explored outcomes according to whether pregnancies with maternal CMV infection were treated with prenatal valacyclovir therapy. Results: Eight studies (620 women) were included. Pregnancies treated with valacyclovir had a significantly lower risk of congenital CMV infection compared with those not receiving valacyclovir (three studies; 325 fetuses; pooled odds ratio (OR), 0.37 (95% CI, 0.21–0.64); I2 = 0%; P < 0.001). When stratifying the analysis according to gestational age at maternal infection, the risk of vertical transmission was significantly lower in pregnancies receiving valacyclovir following first‐trimester maternal infection (three studies; 184 fetuses; pooled OR, 0.34 (95% CI, 0.15–0.74); I2 = 20.9%; P = 0.001), while there was no significant difference between the two groups in those acquiring CMV infection in the periconceptional period or in the third trimester of pregnancy. Only one study reported on the risk of vertical transmission in women infected in the second trimester, demonstrating a lower risk of congenital infection in women taking valacyclovir, although this was based on a small number of cases. Pregnancies treated with valacyclovir therapy had an increased likelihood of asymptomatic congenital CMV infection compared with those not receiving valacyclovir (two studies; 132 fetuses; pooled OR, 2.98 (95% CI, 1.18–7.55); I2 = 0%; P = 0.021), while there was no significant difference between the two groups in the risk of perinatal death (P = 0.923), termination of pregnancy (P = 0.089), anomalies detected at follow‐up imaging assessment during pregnancy or at birth (P = 0.934) and symptoms due to CMV infection in the newborn (P = 0.092). The occurrence of all adverse events in pregnant individuals taking valacyclovir was 3.17% (95% CI, 1.24–5.93%) (six studies; 210 women), with 1.71% (95% CI, 0.41–3.39%) experiencing acute renal failure, which resolved after discontinuation of the drug. On GRADE assessment, the quality of evidence showing that valacyclovir reduced the risk of congenital CMV infection and adverse perinatal outcome was very low. Conclusions: Prenatal valacyclovir administration in pregnancies with maternal CMV infection reduces the risk of congenital CMV infection. Further evidence is needed to elucidate whether valacyclovir can affect the course of infection in the fetus and the risk of symptomatic fetal or neonatal infection. © 2022 International Society of Ultrasound in Obstetrics and Gynecology. Linked article: There is a comment on this article by De Santis et al. Click here to view the Correspondence. [ABSTRACT FROM AUTHOR]

Background: The benefit of antenatal corticosteroid (ACS) administration for the prevention of neonatal morbidity and mortality has been well described for preterm infants. Some studies have demonstrated a benefit for infants born by elective caesarean section (CS) at late preterm or term gestations. However, the neonatal benefits of ACS are not well described when given to pregnant women with diabetes. Aims: The aim of this study was to evaluate the neonatal outcomes following ACS administration in women with pre‐gestational diabetes mellitus (PGDM) when administered prior to elective CS after 36 weeks gestation. Methods: This retrospective observational study included all women with PGDM who gave birth by elective CS between 36+0 and 38+6 weeks gestation. Neonatal outcomes for exposed participants were compared to outcomes for non‐exposed participants. Results: Of the 306 women identified, 65 (21.2%) were exposed to ACS within seven days prior to birth and 241 (78.8%) were not. Although not statistically significant, ACS‐exposed infants born prior to 38+0 weeks were less likely to require respiratory support or neonatal nursery admission compared to those who were not exposed; however, exposed infants born after 37+0 weeks were more likely to require parenteral treatment for neonatal hypoglycaemia. Conclusion: This study did not demonstrate any statistically significant beneficial or harmful effects of ACS in neonates of women with PGDM who are born by elective CS. While it is plausible that ACS could reduce neonatal respiratory morbidity in this population, further prospective studies evaluating the benefits and harms are required before recommending this practice. [ABSTRACT FROM AUTHOR]

Am J Obstet Gynecol 2012; 206: 376 - 386. Am J Obstet Gynecol 2018; 218: 161 - 180. The International Society of Ultrasound in Obstetrics and Gynecology (ISUOG) is a scientific organization that encourages sound clinical practice, and high-quality teaching and research related to diagnostic imaging in women's healthcare. Am J Obstet Gynecol 1990; 162: 322 - 327. J Obstet Gynaecol Can 2007; 29: 261 - 273. [Extracted from the article]

Biallelic IMPAD1 pathogenic variants leads to deficiency of GPAPP (Golgi 3‐prime phosphoadenosine 5‐prime phosphate 3‐prime phosphatase) protein and clinically causes chondrodysplasia, which is characterized by short stature with short limbs, craniofacial malformations, cleft palate, hand and foot anomalies, and various radiographic skeletal manifestations. Here we describe prenatal presentation of GPAPP deficiency caused by novel biallelic pathogenic variants, 2 base pair duplication in exon 2 of IMAPD1 gene in a patient of Asian‐Indian origin. Further we report on diagnostic clues of prenatal presentation of GPAPP deficiency through ultrasonography, fetal MRI, and postmortem findings. We also provide evidence of pathophysiology of underlying GPAPP deficiency in the form of disorganization and dysplastic chondrocytes and reduced sulfation of glycoproteins through histopathology of cartilage similar to that described in mice IMPAD1 homozygous mutant model. [ABSTRACT FROM AUTHOR]

Linked article: This Correspondence comments on Egloff et al. Click here to view the article. [ABSTRACT FROM AUTHOR]

Indications and administration of intra‐amniotic infusions of L‐thyroxine in the context of non‐immune fetal hypothyroidism with goiter lack of standardization. Systematic follow‐up of clinical features related to thyroid hormonal homeostasis may be useful to evaluate their efficiency and develop standardized management guidelines. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the neonatal outcome of fetuses with isolated right-sided congenital diaphragmatic hernia (iRCDH) based on prenatal severity indicators and antenatal management.Methods: This was a retrospective review of prospectively collected data on consecutive cases diagnosed with iRCDH before 30 weeks' gestation in four fetal therapy centers, between January 2008 and December 2018. Data on prenatal severity assessment, antenatal management and perinatal outcome were retrieved. Univariate and multivariate logistic regression analysis were used to identify predictors of survival at discharge and early neonatal morbidity.Results: Of 265 patients assessed during the study period, we excluded 40 (15%) who underwent termination of pregnancy, two cases of unexplained fetal death, two that were lost to follow-up, one for which antenatal assessment of lung hypoplasia was not available and six cases which were found to have major associated anomalies or syndromes after birth. Of the 214 fetuses with iRCDH included in the neonatal outcome analysis, 86 were managed expectantly during pregnancy and 128 underwent fetal endoscopic tracheal occlusion (FETO) with a balloon. In the expectant-management group, lung size measured by ultrasound or by magnetic resonance imaging was the only independent predictor of survival (observed-to-expected lung-to-head ratio (o/e-LHR) odds ratio (OR), 1.06 (95% CI, 1.02-1.11); P = 0.003). Until now, stratification for severe lung hypoplasia has been based on an o/e-LHR cut-off of 45%. In cases managed expectantly, the survival rate was 15% (4/27) in those with o/e-LHR ≤ 45% and 61% (36/59) for o/e-LHR > 45% (P = 0.001). However, the best o/e-LHR cut-off for the prediction of survival at discharge was 50%, with a sensitivity of 78% and specificity of 72%. In the expectantly managed group, survivors with severe pulmonary hypoplasia stayed longer in the neonatal intensive care unit than did those with mildly hypoplastic lungs. In fetuses with an o/e-LHR ≤ 45% treated with FETO, survival rate was higher than in those with similar lung size managed expectantly (49/120 (41%) vs 4/27 (15%); P = 0.014), despite higher prematurity rates (gestational age at birth: 34.4 ± 2.7 weeks vs 36.8 ± 3.0 weeks; P < 0.0001). In fetuses treated with FETO, gestational age at birth was the only predictor of survival (OR, 1.25 (95% CI, 1.04-1.50); P = 0.02).Conclusions: Antenatal measurement of lung size can predict survival in iRCDH. In fetuses with severe lung hypoplasia, FETO was associated with a significant increase in survival without an associated increase in neonatal morbidity. © 2020 International Society of Ultrasound in Obstetrics and Gynecology. [ABSTRACT FROM AUTHOR]

Objectives: Septo-optic dysplasia (SOD) is a clinical syndrome characterized by varying combinations of optic nerve hypoplasia, pituitary gland hypoplasia and abnormal cavum septi pellucidi. It is suspected on prenatal imaging when there is non-visualization or hypoplasia of the septal leaflets. Long-term postnatal outcomes of fetuses with prenatally suspected SOD have been documented poorly. The aims of this study were to describe the natural history of deficient septal leaflets, to quantify the incidence of postnatally confirmed SOD and to document the visual, endocrine and long-term neurodevelopmental outcomes of these infants.Methods: This was an observational retrospective study of all fetuses with prenatal imaging showing isolated septal agenesis, assessed at a single tertiary center over an 11-year period. Pregnancy, delivery and neonatal outcomes and pre- and postnatal imaging findings were reviewed. Neonatal evaluations or fetal autopsy reports were assessed for confirmation of SOD. Ophthalmologic, endocrine, genetic and long-term developmental evaluations were assessed. Imaging findings and outcome were compared between infants with and those without postnatally confirmed SOD.Results: Of 214 fetuses presenting with septal absence on prenatal ultrasound and magnetic resonance imaging (MRI), 18 (8.4%) were classified as having suspected isolated septal agenesis suspicious for SOD. Uniform prenatal MRI findings in cases with suspected SOD included remnants of the leaflets of the cavum septi pellucidi, fused forniceal columns, normal olfactory bulbs and tracts and a normal optic chiasm. Twelve fetuses were liveborn and five (27.8%) had postnatally confirmed SOD. Only two of these five fetuses had additional prenatal imaging features (pituitary cyst, microphthalmia and optic nerve hypoplasia) supporting a diagnosis of SOD. The other three confirmed SOD cases had no predictive prenatal or postnatal imaging findings that reliably differentiated them from cases without confirmed SOD. Visual and endocrine impairments were present in two (40%) and four (80%) cases with confirmed SOD, respectively. In those with visual and/or endocrine impairment, developmental delay (median age at follow-up, 2.5 (interquartile range, 2.5-7.0) years) was common (80%) and mostly severe. Neonates with isolated septal agenesis and a lack of visual or endocrine abnormalities to confirm SOD had normal development.Conclusions: Only a quarter of fetuses with isolated septal agenesis suggestive of SOD will have postnatal confirmation of the diagnosis. Clinical manifestations of SOD are variable, but neurodevelopmental delay may be more prevalent than thought formerly. © 2020 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]

Despite the fact that case reports of intrauterine herpes simplex virus (HSV) infection have been published, this infection is not included herein, as the majority of neonatal HSV infections are acquired at birth as a consequence of direct fetal contact with the infected birth canal or through an ascending infection after premature rupture of the amniotic membranes. CMV infection may be acquired for the first time during pregnancy (primary infection) or it may result from reactivation of prior infection or reinfection with a different strain of the virus (non-primary infection). Nevertheless, a retrospective study of women with maternal primary infection in the index pregnancy found that, once the diagnosis of fetal infection had been made by PCR confirmation of CMV in the amniotic fluid, ultrasound was found to be more sensitive for the detection of subtle abnormalities associated with the fetal infection[18]. In common with other viral infections, however, the risk of an infected fetus being affected (i.e. risk of developing congenital defects) is greatest when infection occurs earlier in gestation: it is 97% when infection is before 12 weeks and 20% when it is from 12 to 16 weeks, while infection from 16 to 20 weeks is associated with a minimal risk of deafness only[[123], [142], [144]]. Diagnosis of fetal rubella infection Recommendations When primary infection occurs before 12 weeks' gestation, given the risk of fetal infection and the risk of an infected fetus developing severe abnormalities, termination of pregnancy can be considered, even without invasive testing ( B GOOD PRACTICE POINT b ). [Extracted from the article]

Objective: Congenital heart defects (CHD) are still missed frequently in prenatal screening programs, which can result in severe morbidity or even death. The aim of this study was to evaluate the quality of fetal heart images, obtained during the second-trimester standard anomaly scan (SAS) in cases of CHD, to explore factors associated with a missed prenatal diagnosis.Methods: In this case-control study, all cases of a fetus born with isolated severe CHD in the Northwestern region of The Netherlands, between 2015 and 2016, were extracted from the PRECOR registry. Severe CHD was defined as need for surgical repair in the first year postpartum. Each cardiac view (four-chamber view (4CV), three-vessel (3V) view and left and right ventricular outflow tract (LVOT, RVOT) views) obtained during the SAS was scored for technical correctness on a scale of 0 to 5 by two fetal echocardiography experts, blinded to the diagnosis of CHD and whether it was detected prenatally. Quality parameters of the cardiac examination were compared between cases in which CHD was detected and those in which it was missed on the SAS. Regression analysis was used to assess the association of sonographer experience and of screening-center experience with the cardiac examination quality score.Results: A total of 114 cases of isolated severe CHD at birth were analyzed, of which 58 (50.9%) were missed and 56 (49.1%) were detected on the SAS. The defects comprised transposition of the great arteries (17%), aortic coarctation (16%), tetralogy of Fallot (10%), atrioventricular septal defect (6%), aortic valve stenosis (5%), ventricular septal defect (18%) and other defects (28%). No differences were found in fetal position, obstetric history, maternal age or body mass index (BMI) or gestational age at examination between missed and detected cases. Ninety-two cases had available cardiac images from the SAS. Compared with the detected group, the missed group had significantly lower cardiac examination quality scores (adequate score (≥ 12) in 32% vs 64%; P = 0.002), rate of proper use of magnification (58% vs 84%; P = 0.01) and quality scores for each individual cardiac plane (4CV (2.7 vs 3.9; P < 0.001), 3V view (3.0 vs 3.8; P = 0.02), LVOT view (1.9 vs 3.3; P < 0.001) and RVOT view (1.9 vs 3.3; P < 0.001)). In 49% of missed cases, the lack of detection was due to poor adaptational skills resulting in inadequate images in which the CHD was not clearly visible; in 31%, the images showed an abnormality (mainly septal defects and aortic arch anomalies) which had not been recognized at the time of the scan; and, in 20%, the cardiac planes had been obtained properly but showed normal anatomy. Multivariate regression analysis showed that the volume of SAS performed per year by each sonographer was associated significantly with quality score of the cardiac examination.Conclusions: A lack of adaptational skills when performing the SAS, as opposed to circumstantial factors such as BMI or fetal position, appears to play an important role in failure to detect CHD prenatally. The quality of the cardiac views was inadequate significantly more often in undetected compared with detected cases. Despite adequate quality of the images, CHD was not recognized in 31% of cases. A high volume of SAS performed by each sonographer in a large ultrasound center contributes significantly to prenatal detection. In 20% of undetected cases, CHD was not visible even though the quality of the images was good. © 2019 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]

Linked article: This Correspondence comments on D'Antonio et al. Click here to view the article. [ABSTRACT FROM AUTHOR]

Objective: To develop an objective method for visualizing and measuring the fetal optic chiasm (OC) using transvaginal two-dimensional (2D) ultrasound in the coronal plane and to report measurements in fetuses with agenesis of the septum pellucidum (SP).Methods: This was a prospective cross-sectional study of 115 morphologically normal fetuses in low-risk pregnancies, between 21 and 30 weeks' gestation. The OC was measured in a coronal plane at the level of the third ventricle and was seen as a horizontally aligned dumbbell-shaped structure of moderate echogenicity. In addition, OC measurements from eight fetuses with agenesis of the SP and complete follow-up were compared with the reference range.Results: OC measurements were obtained in 110/115 normal fetuses and showed that OC increases linearly with gestational age. Our method of measurement demonstrated good intraobserver repeatability and excellent interobserver reproducibility. Among the eight fetuses with agenesis of the SP, five had normal OC measurements and five had normal vision postnatally. Pregnancy continued to term in all cases and the follow-up period varied from 6 months to 7 years.Conclusion: Our study demonstrates that it is possible to visualize and measure the OC directly on a 2D ultrasound coronal plane. In fetuses with agenesis of the SP, the morphology and width of the OC visual pathway could prove a relevant tool for assessing its development. It would also help in the difficult task of providing antenatal counseling when faced with the diagnosis of agenesis of the SP. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

Objectives: Our aims were: (1) to perform an echoanatomic correlation study, in order to confirm that the structure identified as the optic chiasm (OC) on ultrasound (US) is indeed this anatomical structure; (2) to assess and compare the reproducibility of two- (2D) and three-(3D) dimensional US in measurement of the OC in normal fetuses; and (3) to assess whether the spatial orientation of the OC changes with increasing gestational age.Methods: For the echoanatomic study, the OC was studied in a neonatal specimen, deceased at 29 + 4 weeks, by passing a suture around the OC and visualizing the supposed OC structure on US while pulling gently on the suture. The reproducibility study included 39 women with normal pregnancy at 20-33 weeks undergoing routine obstetric US examination. After the routine exam, the OC was visualized on 2D-US, and a 2D image and 3D volume dataset were stored for offline measurement. On the 2D images, the diameters of the OC decussation and the optic tract proximal to the transducer were measured. For the 3D volume dataset, multiplanar image correlation with volume contrast imaging (VCI) was used to measure both these diameters and the chiasmocallosal angle (CCA). Two operators each took two sets of measurements of the diameters on 2D- and 3D-US, and intra- and interoperator variability were analyzed using Cronbach's alpha intraclass correlation coefficient (ICC), while a single operator took two sets of CCA measurements for assessment of intraoperator variability. Differences in CCA with increasing gestational age were also analyzed by regression, and CCA measurements were divided into three groups according to gestational age and their means compared by one-way ANOVA.Results: During the echoanatomic experiment, when the sling suture was pulled, the hyperechoic X-shaped structure just below the circle of Willis identified on 2D-US as the OC was displaced slightly and was eventually cut by the sling, confirming its identity as the OC. Intraoperator variability was low and almost identical for the two operators and the two imaging modalities for measurement of the decussation (ICC for 2D-US: 0.96 vs 0.95; 3D-US: 0.95 vs 0.96), but less so for the optic tract (ICC for 2D-US: 0.95 vs 0.91; 3D-US: 0.94 vs 0.83). Interoperator variability was low for the decussation (2D-US: 0.92; 3D-US: 0.92), but higher for the optic tracts (ICC for 2D-US: 0.80; 3D-US: 0.78). The difference between the mean measurement of the two operators was not statistically significantly different for the decussation, but it was for the optic tracts (P = 0.04). The CCA increased steadily between 20 and 30 gestational weeks and plateaued thereafter, at least until 33 weeks.Conclusions: The hyperechoic structure evident on 2D- and 3D-US, just below the circle of Willis, is indeed the OC. 2D-US is apparently as good as 3D-US for visualization of the OC. However, only measurement of the decussation showed low intra- and interoperator variability, whereas measurement of the optic tract is of questionable variability. As gestation advances between 20 and 30 weeks, the OC becomes more oblique in orientation. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

We agree that our study, as well as those published previously on the same subject, raise important questions concerning cytomegalovirus (CMV) screening. Our study evaluated prevention of viral transmission only and not treatment of CMV-infected fetuses. Our results, as well as those of other studies on the topic of prevention of viral transmission, provide enough data to support the routine use of valacyclovir for this indication. [Extracted from the article]

ABSTRACT In order to illustrate the significance of a new anatomical finding, distortion of the interhemispheric fissure ( DIHF) associated with impacted medial borders of the frontal lobes, we report a retrospective observational study of 13 fetuses in which DIHF was identified on prenatal imaging. In 10 cases there were associated anatomical anomalies, including mainly midline anomalies (syntelencephaly (n = 2), lobar holoprosencephaly (n = 1), Aicardi syndrome (n = 2)), but also schizencephaly (n = 1), cortical dysplasia (n = 1) and more complex cerebral malformations (n = 3), including neural tube defect in two cases. Chromosomal anomaly was identified in two cases, including 6p deletion in a case without associated central nervous system anomalies and a complex mosaicism in one of the cases with syntelencephaly. In two cases, the finding was apparently isolated on both pre- and postnatal imaging, and the children were doing well at follow-up, aged 4 and 5 years. The presence of DIHF on prenatal imaging may help in the diagnosis of cerebral anomalies, especially those involving the midline. If DIHF is apparently isolated on prenatal ultrasound, magnetic resonance imaging is recommended for careful analysis of gyration and midline, especially optic and olfactory structures. Karyotyping is also recommended. Copyright © 2013 ISUOG. Published by John Wiley & Sons Ltd [ABSTRACT FROM AUTHOR]

Aim: To evaluate the value of fetal abdominal circumference (AC) measurement in pregnancies at 38-40 weeks of gestation and within 7 days of delivery to predict macrosomia. Material and Methods: A prospective cohort study was performed on 276 pregnant women who were admitted to the labor ward with gestational age between 38-40 weeks. In all eligible women an ultrasonographic measurement of AC was performed. The women were then monitored up to delivery. All neonatal weights were recorded. The ACs were then evaluated for babies with a neonatal weight of more than 4000 g and babies with a neonatal weight of more than the 90th percentile for gestational age. Results: Sixty-six neonates had a neonatal weight of more than 4000 g and 11 neonates had a birth weight of more than 4500 g. Sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) for AC of more than 35 cm to predict a birth weight of more than 4000 g, were 97%, 54.5%, 40.3% and 98.3%, respectively, and of these 87.9%, 77.6%, 55.2% and 95.3% for AC of more than 36 cm. Percentages were 97.3%, 56.9%, 45.3% and 98.3%, for a birth weight of more than the 90th percentile for gestational age for AC of more than 35 cm, and 87.8%, 80.2%, 61.9% and 94.7% for AC of more than 36 cm for prediction of birth weight of more than the 90th percentile for gestational age. Conclusion: AC measurement at 38-40 weeks of gestation is a suitable index for estimating macrosomia. [ABSTRACT FROM AUTHOR]

Objectives To construct reference ranges for fetal optic tractmean diameter and to reportmeasurements in fetuses with agenesis of the septum pellucidum (SP). Methods Three-dimensional volumes of the optic chiasm were acquired in 98 normal fetuses during routine sonographic examination at 21-36 weeks' gestation and the diameters of the posterior left and right optic tracts were measured offline. A polynomial regression approach (mean and SD model) was used to compute reference charts for the mean fetal optic tract diameter measurements. In addition, 23 volumes were acquired in fetuses with SP agenesis for offline measurement of optic tract diameter. Complete follow-up was obtained in 13 of these 23 cases. Results In normal fetuses, the optic tract diameter increased linearly throughout gestation. There was no evidence of increased variability with gestational age (constant SD). Normal charts and equations for Zscore calculation were constructed. Among the 13 fetuses with SP agenesis and complete follow-up, nine had normal measurements, of which eight had normal vision postnatally. Four had hypoplastic optic tract, defined as mean optic tract diameter Z-score below -3. Of these, two underwent termination of pregnancy and pathological examination confirmed hypoplasia of the tract, one showed signs of hypoplasia at magnetic resonance imaging and postnatal examination confirmed blindness, and one had a hypoplastic measurement for only one tract and was born with poor vision and abnormal bilateral eye movements. Conclusion We present new reference charts for mean fetal optic tract diameter. In fetuses with agenesis of the SP, sonography of the optic tract might be a useful tool to assess its development and may help in prenatal counseling. [ABSTRACT FROM AUTHOR]

The article presents a study which examines the effect of a regional training program in fetal echocardiography for sonographers on the antenatal detection of major congenital heart disease (CHD) in Northern Ireland. A total of 87 obstetric radiographers were the subject of the study. Findings of the study revealed significant improvements in the antenatal diagnosis rate for major CHD.

In order to keep subscribers up-to-date with the latest developments in their field, John Wiley & Sons are providing a current awareness service in each issue of the journal. The bibliography contains newly published material in the field of prenatal diagnosis. Each bibliography is divided into 20 sections: 1 Reviews; 2 General Interest; 3 Normal Fetal Development; 4 Preimplantation Genetic Diagnosis; 5 First Trimester Diagnosis; 6 Second Trimester Diagnosis; 7 Fetal Imaging: General; Ultrasound; MRI; 8 Maternal Serum Screening for Aneuploidy; 9 Screening for Carriers of Genetic Abnormality; 10 Molecular Cytogenetics: Metaphase Cytogenetics/FISH; Array cGH; 11 Fetal Cells in Maternal Circulation; 12 Fetal DNA/RNA in Maternal Body Fluids; 13 Fetal Therapy; 14 Psychosocial and Ethical Aspects; 15 Epidemiology and Environmental Factors; 16 Developmental and Placental Pathology; 17 Genetic Counseling. Within each section, articles are listed in alphabetical order with respect to author. If, in the preceding period, no publications are located relevant to any one of these headings, that section will be omitted [ABSTRACT FROM AUTHOR]

The article offers tips and a framework for doing fetal brain magnetic resonance imaging (MRI) examination. Main indications for fetal brain MRI include a history of severe brain abnormality in a previous pregnancy, an abnormality determined on ultrasound examination, and a high risk of brain abnormality development. After acquiring consent from the mother, fetal MRI should be done using a highfield MR scanner. The diagnostic contribution of MRI is evaluated with respect to brain areas.

The optic chiasm is one of the most popular models for studying axon guidance. Here axons make a key binary decision either to cross the midline to innervate the contralateral hemisphere or to remain uncrossed. In rodents, midline interactions between axons from the two eyes are critical for normal development, as early removal of one eye systematically disrupts hemispheric projections from the remaining eye, increasing the crossed projection at the expense of the uncrossed. This is similar to the abnormal decussation pattern seen in albinos. This pattern is markedly different in marsupials where early eye removal has no impact on projections from the remaining eye. These differences are related to the location of the uncrossed projection through the chiasm. In rodents these axons approach the midline whereas in marsupials they remain segregated laterally. We provide anatomical evidence in man suggesting that, unlike in rodents, uncrossed axons are confined laterally and do not mix in each hemi-chiasm, which is a pattern similar to that found in marsupials. Further, we demonstrate electrophysiologically, using visual cortical evoked potentials, that the failure of one eye to develop in man has no impact on the hemispheric projections from the remaining eye. These data demonstrate that the mechanisms regulating chiasmal development in man differ from those in rodents but may be similar to those in marsupials. We suggest that mouse models of the organization and development of the optic chiasm are not common to placental mammals in general. [ABSTRACT FROM AUTHOR]

The effect of curvature on the surface tension of droplets and bubbles in both single and multicomponent systems is modeled using the basic equations from classical thermodynamics. The three expressions used in our work are the Gibbs adsorption equation for multicomponent systems, the relation between the surface tension at the surface of tension and the distance parameter δ, and the Macleod-Sugden equation for surface tension and its extension to multicomponent systems. The Peng-Robinson equation of state is used to describe the bulk phases. We also assume that the surface tension expression remains valid in terms of the properties of the bulk phases for both flat and curved interfaces. For a flat surface we have developed a rigorous thermodynamics approach for the calculation of the Tolman distance parameter. For curved surfaces, the results from our model reveal a decrease in surface tension with curvature in bubbles and a nonmonotonic behavior in droplets for single-component systems. Our predictions are in good agreement with the literature results when the interface is described using the framework of the density functional theory by three different groups. For multicomponent systems, the results show that the surface tension in a bubble, although monotonic with curvature, can increase or decrease in a large bubble depending on the temperature and composition of the mixture. In a droplet, the surface tension can have a nonmonotonic behavior similar to that of single-component systems. [ABSTRACT FROM AUTHOR]

In order to keep subscribers up-to-date with the latest developments in their field, John Wiley & Sons are providing a current awareness service in each issue of the journal. The bibliography contains newly published material in the field of prenatal diagnosis. Each bibliography is divided into 17 sections: 1 Books, Reviews & Symposia; 2 General Interest; 3 Normal Fetal Development; 4 Gametogenesis and Pre-implantation Diagnosis; 5 First Trimester Diagnosis; 6 Second Trimester Diagnosis; 7 Fetal Diagnosis by Ultrasound and Other Imaging; 8 Maternal Screening; 9 Screening for Carriers of Genetic Abnormality; 10 Technological Developments; 11 Confined Placental Mosaicism and Uniparental Disomy; 12 Molecular Cytogenetics; 13 Fetal Cells in Maternal Circulation; 14 Fetal Therapy; 15 Psychosocial Aspects; 16 Epidemiology and Environmental Factors; 17 Developmental Pathology. Within each section, articles are listed in alphabetical order with respect to author. If, in the preceding period, no publications are located relevant to any one of these headings, that section will be omitted [ABSTRACT FROM AUTHOR]

In order to keep subscribers up-to-date with the latest developments in their field, John Wiley & Sons are providing a current awareness service in each issue of the journal. The bibliography contains newly published material in the field of prenatal diagnosis. Each bibliography is divided into 17 sections: 1 Books, Reviews & Symposia; 2 General Interest; 3 Normal Fetal Development; 4 Gametogenesis and Pre-implantation Diagnosis; 5 First Trimester Diagnosis; 6 Second Trimester Diagnosis; 7 Fetal Diagnosis by Ultrasound and Other Imaging; 8 Maternal Screening; 9 Screening for Carriers of Genetic Abnormality; 10 Technological Developments; 11 Confined Placental Mosaicism and Uniparental Disomy; 12 Molecular Cytogenetics; 13 Fetal Cells in Maternal Circulation; 14 Fetal Therapy; 15 Psychosocial Aspects; 16 Epidemiology and Environmental Factors; 17 Developmental Pathology. Within each section, articles are listed in alphabetical order with respect to author. If, in the preceding period, no publications are located relevant to any one of these headings, that section will be omitted [ABSTRACT FROM AUTHOR]

The article evaluates the presence and normality of the optic chiasma when septal agenesis is detected during fetal morphological examination through three-dimensional ultrasound imaging. The optic chaisma is an X-shaped structure lying in front of the cerebral peduncles and behind the wings of the sphenoid bone. Doppler examination identification of the circle of Willis and its main components, including the emerging carotid arteries, the anterior and posterior cerebral arteries.

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]