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Introduction Materials and Methods Results Conclusion Persistent right umbilical vein (PRUV) is an embryonic vascular abnormality. Recent studies suggested that the perinatal outcome was good and the risk of aneuploidy was low in isolated forms. Our purpose in this study was to assess the relation of PRUV with genetic abnormalities and demonstrate concomitant malformations and perinatal outcomes of these fetuses.This was a retrospective study examining consecutive pregnancies diagnosed as having PRUV in our hospital between 2017 and 2022.A total of 41 patients were diagnosed as having fetuses with PRUV during the study period. Additional ultrasound findings were detected in 26 fetuses (63.4%). The most common associated finding was fetal growth restriction, which was found in 15 (36.5%) of 41 fetuses. This was followed by cardiovascular findings in eight (19.5%) fetuses. Genetic anomalies were detected in five (12.1%) fetuses. Down syndrome was detected in two fetuses (4.8%), nail‐patella syndrome in one fetus (2.4%), duplication of 7p was found in one fetus (2.4%), and Potocki‐Lupski syndrome (2.4%) was diagnosed in one fetus.In our study we found that even in isolated cases, genetic syndromes could coexist and fetal growth could be impaired so it should be closely monitored. [ABSTRACT FROM AUTHOR]

Fetal two‐dimensional speckle tracking echocardiography (2D‐STE) is a novel technique that provides information on fetal heart function by measuring global longitudinal strain (GLS) and global longitudinal strain rate (GLSR). These features assess the longitudinal deformity of the fetal cardiac wall. 2D‐STE is shown to be of prognostic value in children and adults with congenital heart disease (CHD). Therefore, its importance in fetal life should also be considered. This systematic review and meta‐analysis provides an overview of the literature on 2D‐STE (GLS/GLSR) in fetuses with CHD, focusing on the left and right ventricles (LV/RV). Findings indicated that LV‐GLS was significantly lower in fetuses with coarctation of the aorta (CoA) and Tetralogy of Fallot (ToF) compared to controls. Conversely, fetuses with a single left ventricle exhibited higher LV‐GLS. RV‐GLS was significantly lower in fetuses with hypoplastic left heart syndrome (HLHS) and ToF compared to controls. LV‐GLSR was significantly lower in fetuses with CoA. Overall, considerable heterogeneity was observed, possibly due to differences in study design. More prospective longitudinal studies on 2D‐STE in fetuses with CHD, considering heterogeneity parameters, could offer better insights into this promising technique. [ABSTRACT FROM AUTHOR]

We describe two cases of umbilical cord (UC) angiomyxoma diagnosed prenatally by sonography in the second trimester of pregnancy. In both cases, a complex mass was detected at the placental insertion site, characterized by an echoic nodule surrounding the umbilical vessels and distal edematous Wharton's jelly. Follow‐up scans showed that the mass grew mainly at the expense of its edematous component, with normal uteroplacental Dopplers throughout the remaining of the pregnancy. However, late‐onset fetal growth restriction complicated the progress of pregnancy, requiring delivery by Cesarean section at 37 weeks' gestation in both cases. Neonatal courses were unremarkable. An extensive review of the English literature was also performed, collecting 45 similar cases including ours. Our experience as well as the review of the literature confirms that UC angiomyxoma is an uncommon, sporadic condition that is usually detected incidentally during prenatal sonography and presents as an isolated finding. Nevertheless, it represents a high‐risk condition for pregnancy complications including prematurity, fetal growth restriction, and fetal demise. [ABSTRACT FROM AUTHOR]

A series of five fetuses with a Phrygian cap gallbladder, a condition infrequently reported in the antenatal period, is reported. In all cases, examination of the fetal gallbladder displayed the characteristic folding of the fundus over the body. No associated findings were detected. The gallbladder length was longer than normal in all cases, suggesting that this anomaly could represent a deformity rather than a primary malformation. This might be caused by excessive longitudinal growth of the gallbladder, eventually folding after the fundus reaches the anterior border of the liver and is then diverted laterally by the abdominal wall. [ABSTRACT FROM AUTHOR]

Objectives: This retrospective study aimed to assess disparities between prenatal ultrasound and autopsy findings in pregnancies that resulted in fetal loss, and to evaluate the diagnostic performance of prenatal ultrasound using postmortem examinations as a gold standard. Methods: Our study included 136 autopsy cases following a fetal loss that occurred at our tertiary medical center for 8 years. A comparison between the prenatal ultrasound and autopsy findings was made, and all cases were classified according to the degree of agreement. The diagnostic performance of prenatal ultrasound was calculated at the level of organ system and specific malformations. Results: The primary sonographic diagnosis was confirmed in 91.9% of the cases (n = 125). General agreement was highest among central nervous system (CNS), cardiovascular and musculoskeletal systems (85.7%, n = 36, 18, and 12, respectively) and lowest among facial, multiple anomalies, genitourinary and gastrointestinal systems (50.0%, 74.3%, 78.6%, and 80.0%, n = 2, 26, 11, and 4, respectively). The sensitivity of ultrasound was highest in the CNS (93.2%) and musculoskeletal (87.0%) and lowest in the facial (32.3%) and pulmonary (13.0%) systems. Specifically, low diagnostic rates were noted in detecting ventriculomegaly, valvular anomalies, renal dysplasia, spleen and adrenal anomalies, and digital and facial defects. Conclusions: Our study observed an overall high agreement between prenatal ultrasound and autopsy while contributing to our comprehensive understanding of its strengths and limitations across various types of organ systems and specific malformations. [ABSTRACT FROM AUTHOR]

Objective: To assess the reproducibility of ultrasound measurements of fetal biometry using a 'focus point' to assist the acquisition of the relevant plane. Methods: This was a study of 80 women with a singleton non‐anomalous pregnancy who attended University College London Hospital, London, UK, between 18 and 37 weeks' gestation. Planes to measure head circumference (HC), abdominal circumference (AC) and femur length (FL) were obtained four times by two different sonographers with different levels of experience, who were blinded to one another; the first set of images was obtained with reference to a standard image, and the second set of images was obtained using the focus point technique. The focus point was defined as a unique fetal anatomical landmark in each plane (cavum septi pellucidi for HC, two‐thirds of the umbilical vein for AC and one of the two extremities of the diaphysis for FL). Once identified, the focus point was maintained in view while the sonographer rotated the probe along three axes (x, y, z) to acquire the relevant plane. Sonographers were either in training or had > 3000 scans worth of experience. Intra‐ and interobserver reproducibility were assessed using Bland–Altman plots, and absolute values and percentages for mean difference and 95% limits of agreement (LoA) were reported. Results: Overall reproducibility was good, with all 95% LoA < 8%. Reproducibility was improved by use of the focus point compared with the standard technique for both intraobserver comparison (95% LoA, < 4% vs < 6%) and interobserver comparison (95% LoA, < 7% vs < 8%). These findings were independent of sonographer seniority and plane acquired. Conclusions: Reproducibility of fetal biometry assessment is improved with use of the focus point for plane acquisition, regardless of sonographer experience. We propose that this method should be implemented in clinical practice and training programs in fetal biometry. © 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]

Orofacial clefts are one of the most common congenital malformations. The prenatal diagnosis is often made in the second trimester of pregnancy as result of ultrasound examination of the midface on coronal and axial planes. However, the diagnosis in the first trimester is elusive due to the small size of the facial structures and technical limitations present at this early gestational age. In this Commentary, we suggest the routine systematic ultrasound identification of easy‐to‐obtain landmarks to improve the detection of cleft lip and cleft palate in the first trimester. These include, but are not limited to, visualization of the primary palate using the coronal plane of the face looking for disruption at the base of the retronasal triangle, and visualization of the palate using the sagittal plane looking for the maxillary gap and loss of the superimposed line. Early prenatal detection of orofacial clefts would allow a more detailed search for associated chromosomal anomalies or genetic syndromes. [ABSTRACT FROM AUTHOR]

Objectives: Diagonal echogenic lines outside the lateral ventricle have often been observed in the anterior coronal planes of the normal fetal brain by neurosonography. We have observed abnormal shapes of these echogenic lines in cases of malformation of cortical development (MCD). We named the ultrasound finding "cat‐ear‐line" (CEL). This study aimed to examine how and when CEL develops in normal cases compared with MCD cases. Methods: We retrospectively examined the fetal brain volume dataset acquired through transvaginal 3D neurosonography of 575 control cases and 39 MCD cases from 2014 to 2020. We defined CEL as the hyperechogenic continuous lines through subplate (SP) and intermediate zone (IZ), pre‐CEL as the lines that existed only within the SP, and abnormal CEL as a mass‐like or mosaic shadow‐like structure that existed across the SP and IZ. All fetuses in the MCD group had some neurosonographic abnormalities and were ultimately diagnosed with MCD. Results: The CEL was detected in 97.9% (369/377) of the control group from 19 to 30 weeks. The CEL visualization rate of the MCD group in the same period was 40.0% (14/35) which was significantly lower than that of the control group (P <.001). Conclusions: From this study, it appears that the CEL is an ultrasound finding observed at and beyond 19 weeks in a normally developing fetus. In some MCD cases, pre‐CEL at and beyond 19 weeks or abnormal CEL was observed. Maldeveloped CEL at mid‐trimester may help identify cases at‐risk of subsequent MCD. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the correlation of periventricular echogenic halo (halo sign) with histopathological findings and its association with other brain imaging abnormalities in fetuses with cytomegalovirus (CMV) infection. Methods: This was a retrospective study of fetuses diagnosed with severe CMV infection based on central nervous system (CNS) abnormalities seen on ultrasound, which had termination of pregnancy (TOP) or fetal demise at a single center from 2006 to 2021. All included cases had been evaluated by conventional complete fetal autopsy. A maternal–fetal medicine expert reanalyzed the images from the transabdominal and transvaginal neurosonography scans, blinded to the histological findings. The halo sign was defined as the presence of homogeneous periventricular echogenicity observed in all three fetal brain orthogonal planes (axial, parasagittal and coronal). Cases were classified according to whether the halo sign was the only CNS finding (isolated halo sign) or concomitant CNS anomalies were present (non‐isolated halo sign). An expert fetal radiologist reanalyzed magnetic resonance imaging (MRI) examinations when available, blinded to the ultrasound and histological results. Hematoxylin–eosin‐stained histologic slides were reviewed independently by two experienced pathologists blinded to the neuroimaging results. Ventriculitis was classified into four grades (Grades 0–3) according to the presence and extent of inflammation. Brain damage was categorized into two stages (Stage I, mild; Stage II, severe) according to the histopathological severity and progression of brain lesions. Results: Thirty‐five CMV‐infected fetuses were included in the study, of which 25 were diagnosed in the second and 10 in the third trimester. One fetus underwent intrauterine demise and TOP was carried out in 34 cases. The halo sign was detected on ultrasound in 32 (91%) fetuses (23 in the second trimester and nine in the third), and it was an isolated sonographic finding in six of these cases, all in the second trimester. The median gestational age at ultrasound diagnosis of the halo sign was similar between fetuses in which this was an isolated and those in which it was a non‐isolated CNS finding (22.6 vs 24.4 weeks; P = 0.10). In fetuses with a non‐isolated halo sign, the severity of additional ultrasound findings was not associated with the trimester at diagnosis, except for microencephaly, which was more frequent in the second compared with the third trimester (10/18 (56%) vs 1/8 (13%); P = 0.04). With respect to histopathological findings, ventriculitis was observed in all fetuses with an isolated halo sign, but this was mild (Grade 1) in the majority of cases (4/6 (67%)). Extensive ventriculitis (Grade 2 or 3) was more frequent in fetuses with a non‐isolated halo sign (21/26 (81%)) and those without a periventricular echogenic halo (2/3 (67%); P = 0.032). All fetuses with an isolated halo sign were classified as histopathological Stage I with no signs of brain calcifications, white‐matter necrosis or cortical injury. On the other hand, 25/26 fetuses with a non‐isolated halo sign and all three fetuses without a periventricular echogenic halo showed severe brain lesions and were categorized as histopathological Stage II. Among fetuses with a non‐isolated halo, histological brain lesions did not progress with gestational age, although white‐matter necrosis was more frequent, albeit non‐significantly, in fetuses diagnosed in the second vs the third trimester (10/15 (67%) vs 3/11 (27%); P = 0.06). Conclusions: In CMV‐infected fetuses, an isolated periventricular echogenic halo was observed only in the second trimester and was associated with mild ventriculitis without signs of white‐matter calcifications or necrosis. When considering pregnancy continuation, detailed neurosonographic follow‐up complemented by MRI examination in the early third trimester is indicated. The prognostic significance of the halo sign as an isolated finding is still to be determined. © 2023 International Society of Ultrasound in Obstetrics and Gynecology. [ABSTRACT FROM AUTHOR]

Purpose: We presented the experience of a tertiary care center for maternal and fetal diseases and assessed the findings fetuses with double-inlet left ventricle (DILV) regarding fetal echocardiography, prenatal course including fetal growth and death, and postnatal outcome., Methods: In this retrospective study, patients diagnosed with DILV via prenatal ultrasound in the maternal-fetal medicine department between 2015 and 2023 were included to evaluate important aspects of prenatal diagnosis and course, as well as postnatal management and outcome., Results: There were 33 DILV cases prenatally diagnosed and postnatally confirmed. Genetic abnormality was detected in two (8%) of 25 fetuses that had undergone genetic tests. Pulmonary artery obstruction was observed in 10 (30.3%) fetuses; pulmonary stenosis was found in nine, and pulmonary atresia in one. Aortic arc abnormalities were found in 11 (33.3%) fetuses. The great arteries were malpositioned in the 29 (87.8%) fetuses. The median duration of follow-up for the infants was 12 (2-96) months, and 22 (66.6%) of 33 cases survived. Among the 27 (81.8%) live births, 24 infants required univentricular palliation., Conclusions: Remarkable implications of this study were that unless extra-cardiac and genetic anomalies accompany DILV, the probability of a chromosomal anomaly is low; that univentricular repair could be performed in almost all cases; and that the major causes of poor prognosis may be related to the restrictive bulboventricular foramen and severe aortic obstruction. Although long-term survival rates after univentricular repair appear to be high, these patients require long-term follow-up and repeated surgical procedures., (© 2024 Wiley Periodicals LLC.)

Background: The molecular mutations of the L1CAM gene and the imaging appearances of four fetuses with L1 syndrome from three independent Chinese families with a history of hydrocephalus were reported in this study. Two of the three are novel L1CAM variants. Methods: Results of clinical and imaging examinations of three Chinese families were collected. Fetal samples were collected by puncture, genomic DNA was extracted, whole‐exome sequencing was performed, and the L1CAM gene mutation sites were verified by PCR and Sanger sequencing. Results: In this case report, we described the imaging appearance and investigated the mutations of the L1CAM gene in three Chinese families with a history of L1 syndrome; these included two nonsense mutations (c.262C>T and c.261C>G) and one splice‐site mutation (c.524‐1G>A). Two of these three are novel L1CAM variants: c.262C>T and c.261C>G. The results of the sonographic images of the affected fetuses showed severe hydrocephalus. Bilateral lateral ventricles were dilated in the fetuses with c.262C>T and c.261C>G mutations. The left ventricle was about 14 mm wide and the right was about 14 mm in the fetus with c.262C>T mutation. The left ventricle was about 24.9 mm wide and the right was about 23.9 mm in the fetus with c.261C>G mutation. The ultrasound examination of the fetus with c.524‐1G>A mutation showed that the third ventricle (7.5 mm wide) was raised, and the fourth ventricle was communicated with the cisterna magna. The parents requested termination of the above pregnancy. Conclusion: The current study emphasizes the importance of combining family history, prenatal ultrasonography, and L1CAM mutation testing positive for the diagnosis of the L1 syndrome. [ABSTRACT FROM AUTHOR]

Fetal lymphangioma is an uncommon congenital malformation that is mainly comprised of the subcutaneous tissue of the neck. This malformation can develop in other areas like the thoracic and axillary regions, though rarely. We report 6 consecutive cases of lymphatic malformation in a fetal center in Dominican Republic. In our case series fetal chest lymphangiomas were present in 2 fetuses. In addition, 2 cases of axillary lymphangiomas also involved the thoracic region. Adequate management by a multidiciplinary team is necessary to provide a better approach to delivery. [ABSTRACT FROM AUTHOR]

Introduction: Our objective was to evaluate the perinatal outcome of selective termination of dichorionic twin pregnancies with discordant anomalies, according to gestational age at time of procedure. Material and methods: Retrospective review of 147 dichorionic twin pregnancies referred to our Fetal Medicine Unit between 2003 and 2018 for selective termination. Gestational age at delivery, fetal loss, and overall and 28‐day post‐delivery survival rates, were evaluated according to gestational age at time of procedure. Selective termination procedure was defined as early, intermediate, and late when performed before 18 weeks, between 18 and 23 weeks, and after 23 weeks, respectively. Kruskal–Wallis and chi‐squared test were used to compare groups. Results: Overall survival at 28 days post‐delivery, pregnancy loss, and preterm delivery before 32 weeks of gestation rates were 93.4%, 6.9%, and 15.5%, respectively. When stratified by gestational age at procedure, intermediate selective termination was associated with a lower survival rate than early and late procedures (86% vs. 96.9% and 100%, respectively; p = 0.035), and a nonsignificant trend for higher pregnancy loss (12% vs. 3.1%). Preterm delivery before 32 weeks of gestation occurred in 27% of late procedures, which was significantly higher than in early (9.5%) and intermediate (18.2%) procedures. Conclusions: Selective termination in dichorionic twin pregnancies with discordant fetal anomaly is associated with low pregnancy loss and preterm delivery rate, primarily when performed before 18 weeks. When legally possible, late procedures can be a good alternative, particularly in those cases diagnosed beyond the 18th week of gestation. [ABSTRACT FROM AUTHOR]

Objectives: Ultrasound users are advised to observe the ALARA (as low as reasonably achievable) principle, but studies have shown that most do not monitor acoustic output metrics. We developed an adaptive ultrasound method that could suggest acoustic output levels based on real‐time image quality feedback using lag‐one coherence (LOC). Methods: Lag‐one coherence as a function of the mechanical index (MI) was assessed in 35 healthy volunteers in their second trimester of pregnancy. While imaging the placenta or the fetal abdomen, the system swept through 16 MI values ranging from 0.15 to 1.20. The LOC‐versus‐MI data were fit with a sigmoid curve, and the ALARA MI was selected as the point at which the fit reached 98% of its maximum. Results: In this study, the ALARA MI values were between 0.35 and 1.03, depending on the acoustic window. Compared to a default MI of 0.8, the pilot acquisitions suggested a lower ALARA MI 80% of the time. The contrast, contrast‐to‐noise ratio, generalized contrast‐to‐noise ratio, and LOC all followed sigmoidal trends with an increasing MI. The R2 of the fit was statistically significantly greater for LOC than the other metrics (P <.017). Conclusions: These results suggest that maximum image quality can be achieved with acoustic output levels lower than the US Food and Drug Administration limits in many cases, and an automated tool could be used in real time to find the ALARA MI for specific imaging conditions. Our results support the feasibility of an automated, LOC‐based implementation of the ALARA principle for obstetric ultrasound. [ABSTRACT FROM AUTHOR]

Objectives: Kabuki syndrome (KS) is a genetic disorder characterized by intellectual disability, facial dysmorphism and congenital anomalies. We aim to investigate the prenatal features of fetuses with KS and to provide a comprehensive review of the literature on prenatal sonographic abnormalities associated with KS. Methods: We retrospectively reviewed the prenatal ultrasound findings of all mothers of children with molecularly confirmed KS in Hong Kong, between 1991 and 2019. We also performed systematic review of the literature to identify studies on the prenatal findings in KS. Results: We identified 11 cases with KS with detectable fetal ultrasound findings ranging from no detectable abnormalities to a variety of non‐specific findings including increased nuchal translucency, pleural effusion, cardiac anomalies, renal anomalies, intrauterine growth restriction, polyhydramnios, oligohydramnios and single umbilical artery. In combining our cases with the 77 cases published, 42 (50.6%) of them had more than one abnormal antenatal ultrasound finding. The most frequent ultrasound features observed were cardiac anomalies (49.4%), followed by polyhydramnios (28.9%), genitourinary anomalies (26.5%), single umbilical artery (15.7%), intrauterine growth restriction (14.5%) and hydrops fetalis/pleural effusion/ascites (12.0%). Conclusions: These cases demonstrate the prenatal phenotypic heterogeneity associated with KS. Although the ultrasound abnormalities are non‐specific, KS should be considered in the differential diagnosis when these fetal findings following normal microarray analysis/karyotyping. Key points: What's already known about this topic? The anomalies associated with Kabuki syndrome (KS) may be detectable on routine fetal ultrasound. What does this study add?This study provides comprehensive information on the prenatal manifestations of KS. Although the prenatal ultrasound findings are not specific for KS, recognition of the fetal abnormalities should alert clinicians to consider discussion regarding targeted fetal genetic testing using the KS panel or exome sequencing and provision of appropriate counselling to explain the findings. [ABSTRACT FROM AUTHOR]

Objective: To assess the performance of fetal magnetic resonance imaging (MRI) in detecting associated anomalies in fetuses diagnosed with isolated corpus callosal (CC) anomaly on multiplanar ultrasound evaluation of the fetal brain (neurosonography).Methods: This was a multicenter, retrospective cohort study involving 14 fetal medicine centers in Italy, UK, Portugal, Canada, Austria and Spain. Inclusion criteria were fetuses with an apparently isolated CC anomaly, defined as an anomaly of the CC and no other additional central nervous system (CNS) or extra-CNS abnormality detected on expert ultrasound, including multiplanar neurosonography; normal karyotype; maternal age ≥ 18 years; and gestational age at diagnosis ≥ 18 weeks. The primary outcome was the rate of additional CNS abnormalities detected exclusively on fetal MRI within 2 weeks following neurosonography. The secondary outcomes were the rate of additional abnormalities according to the type of CC abnormality (complete (cACC) or partial (pACC) agenesis of the CC) and the rate of additional anomalies detected only on postnatal imaging or at postmortem examination.Results: A total of 269 fetuses with a sonographic prenatal diagnosis of apparently isolated CC anomalies (207 with cACC and 62 with pACC) were included in the analysis. Additional structural anomalies of the CNS were detected exclusively on prenatal MRI in 11.2% (30/269) of cases, with malformations of cortical development representing the most common type of anomaly. When stratifying the analysis according to the type of CC anomaly, the rate of associated anomalies detected exclusively on MRI was 11.6% (24/207) in cACC cases and 9.7% (6/62) in pACC cases. On multivariate logistic regression analysis, only maternal body mass index was associated independently with the likelihood of detecting associated anomalies on MRI (odds ratio, 1.07 (95% CI, 1.01-1.14); P = 0.03). Associated anomalies were detected exclusively after delivery and were missed on both types of prenatal imaging in 3.9% (8/205) of fetuses with prenatal diagnosis of isolated anomaly of the CC.Conclusion: In fetuses with isolated anomaly of the CC diagnosed on antenatal neurosonography, MRI can identify a small proportion of additional anomalies, mainly malformations of cortical development, which are not detected on ultrasound. © 2021 International Society of Ultrasound in Obstetrics and Gynecology. [ABSTRACT FROM AUTHOR]

Objectives: To evaluate the efficacy of the fetal heart diameter (HD) in predicting fetal hemoglobin (Hb) Bart disease at midpregnancy. Methods: Video clips of fetal chest ultrasound examinations performed on fetuses at risk of Hb Bart disease at 18 to 22 weeks' gestation were randomly retrieved from our video clip database. The clips were replayed for fetal HD measurements, and the measured HDs were converted to z scores based on the z score model as a function of biparietal diameter. An HD z score greater than 2 or an actual HD value above the 95th percentile for gestational age was used as a cutoff in predicting Hb Bart disease. The best cutoff value of HD for identifying affected fetuses during midpregnancy was also evaluated by a receiver operating characteristic curve. Results: A total of 90 video clips, including 37 affected and 53 unaffected fetuses, were measured. An HD z score greater than 2 had sensitivity of 94.6% (95% confidence interval [CI], 81.8%–99.3%) and specificity of 84.9% (95% CI, 72.4%–93.3%). An actual HD value above the 95th percentile for gestational age had sensitivity of 100% (95% CI, 90.5%–100%) and specificity of 69.8% (95% CI, 55.7%–81.7%). The best cutoff values of the HD z score and actual HD value were 2.27 (with sensitivity of 94.6% and specificity of 88.7%) and 18.15 mm (with sensitivity of 91.9% and specificity of 77.4%), respectively. Conclusions: The fetal HD is highly effective in predicting fetal Hb Bart disease among fetuses at risk at midpregnancy. Both the HD z score and the actual value can be used for noninvasive prenatal screening of fetal cardiomegaly in clinical practice. Access the CME test here and search by article title. [ABSTRACT FROM AUTHOR]

Aim: The purpose of this study was to establish a simple method to distinguish premature ventricular contractions (PVC) from premature atrial contractions (PAC) using a fetal Doppler ultrasound arterial pulse waveform to measure time intervals between sinus node restarting. Methods: We retrospectively identified 14 fetuses with premature contraction (8 with PAC, 6 with PVC). We measured two distinct parts of time intervals using an arterial pulsed‐wave Doppler: the two consecutive waveforms just before the premature contraction (2‐V interval) and two consecutive waveforms including the premature contraction (XV interval) to measure time intervals between sinus node restarting. We then evaluated the time difference between the 2‐V and XV intervals in PVC compared to PAC. Results: For PVC, the difference between the 2‐V interval and the XV interval was significantly shorter than that for PAC. A cut‐off point of 33 ms, where a difference ≤33 ms was clearly shown to be associated with a PVC and a difference more than 33 ms signified a PAC was demonstrated. Conclusion: The 2‐V and XV interval measurements, used to measure time intervals between sinus node restarting, could easily distinguish PVC from PAC in utero. Therefore, this study could potentially be a feasible and effective method for obstetricians or sonographers to employ usefully. [ABSTRACT FROM AUTHOR]

Purpose: To evaluate the outcomes of fetuses diagnosed with absent nasal bone in the second trimester.Methods: This prospective, observational study included all fetuses who were diagnosed at or referred to our fetal medicine center with an absent nasal bone from 16 weeks onwards from November 2017 to December 2019. Amniocentesis for fetal karyotype and microarray was offered to all women. Women who opted not to undergo invasive testing were also followed up and neonatal outcome noted.Results: 26 fetuses were eligible for inclusion in the study. 8 (30.8%) out of these were diagnosed with aneuploidy: 7 with trisomy 21 and one with trisomy 18. All fetuses with aneuploidy had additional ultrasound abnormality and/or high risk on biochemical screening.Conclusions: Isolated absent nasal bone in the second trimester with prior low risk on combined screening performed by certified sonographers is unlikely to be associated with Down syndrome. [ABSTRACT FROM AUTHOR]

Objectives: To assess the role of fetal magnetic resonance imaging (MRI) in detecting associated anomalies in fetuses presenting with mild or moderate isolated ventriculomegaly (VM) undergoing multiplanar ultrasound evaluation of the fetal brain.Methods: This was a multicenter, retrospective, cohort study involving 15 referral fetal medicine centers in Italy, the UK and Spain. Inclusion criteria were fetuses affected by isolated mild (ventricular atrial diameter, 10.0-11.9 mm) or moderate (ventricular atrial diameter, 12.0-14.9 mm) VM on ultrasound, defined as VM with normal karyotype and no other additional central nervous system (CNS) or extra-CNS anomalies on ultrasound, undergoing detailed assessment of the fetal brain using a multiplanar approach as suggested by the International Society of Ultrasound in Obstetrics and Gynecology guidelines for the fetal neurosonogram, followed by fetal MRI. The primary outcome of the study was to report the incidence of additional CNS anomalies detected exclusively on prenatal MRI and missed on ultrasound, while the secondary aim was to estimate the incidence of additional anomalies detected exclusively after birth and missed on prenatal imaging (ultrasound and MRI). Subgroup analysis according to gestational age at MRI (< 24 vs ≥ 24 weeks), laterality of VM (unilateral vs bilateral) and severity of dilatation (mild vs moderate VM) were also performed.Results: Five hundred and fifty-six fetuses with a prenatal diagnosis of isolated mild or moderate VM on ultrasound were included in the analysis. Additional structural anomalies were detected on prenatal MRI and missed on ultrasound in 5.4% (95% CI, 3.8-7.6%) of cases. When considering the type of anomaly, supratentorial intracranial hemorrhage was detected on MRI in 26.7% of fetuses, while polymicrogyria and lissencephaly were detected in 20.0% and 13.3% of cases, respectively. Hypoplasia of the corpus callosum was detected on MRI in 6.7% of cases, while dysgenesis was detected in 3.3%. Fetuses with an associated anomaly detected only on MRI were more likely to have moderate than mild VM (60.0% vs 17.7%; P < 0.001), while there was no significant difference in the proportion of cases with bilateral VM between the two groups (P = 0.2). Logistic regression analysis showed that lower maternal body mass index (adjusted odds ratio (aOR), 0.85 (95% CI, 0.7-0.99); P = 0.030), the presence of moderate VM (aOR, 5.8 (95% CI, 2.6-13.4); P < 0.001) and gestational age at MRI ≥ 24 weeks (aOR, 4.1 (95% CI, 1.1-15.3); P = 0.038) were associated independently with the probability of detecting an associated anomaly on MRI. Associated anomalies were detected exclusively at birth and missed on prenatal imaging in 3.8% of cases.Conclusions: The incidence of an associated fetal anomaly missed on ultrasound and detected only on fetal MRI in fetuses with isolated mild or moderate VM undergoing neurosonography is lower than that reported previously. The large majority of these anomalies are difficult to detect on ultrasound. The findings from this study support the practice of MRI assessment in every fetus with a prenatal diagnosis of VM, although parents can be reassured of the low risk of an associated anomaly when VM is isolated on neurosonography. Copyright © 2020 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

Objectives: To investigate prenatal imaging findings supporting a diagnosis of suspected septo‐optic dysplasia (SOD) by fetal ultrasound (US), magnetic resonance imaging (MRI), or both. Methods: A retrospective review identified 11 patients with SOD: 9 had a clinical diagnosis of SOD postnatally, and 2 were terminated on the basis of suspicious prenatal imaging. Prenatal and neonatal imaging of the cavum septi pellucidi (CSP), frontal horns (FHs), and lateral ventricles was evaluated. Results: The appearance of the CSP varied on US and MRI. Complete ("fused") FHs or partial absence of the CSP was reported in 6 of 11 patients by fetal US and 7 of 8 patients by fetal MRI. The diagnosis of SOD was prospectively suspected prenatally in 6 of 11 and in an additional 5 of 11 cases retrospectively. Fetal MRI incorrectly initially reported normal morphologic abnormalities for 2 cases with partial absence of the CSP, whereas US accurately identified the morphologic abnormalities in 1 of these cases before MRI. Imaging features were first suggested at anatomic US (4 patients) and follow‐up prenatal US (2 patients). Neonatal imaging was concordant in all 9 live births: 5 completely absent CSP, 3 partially absent CSP, and 1 completely present CSP. Clinical manifestations included optic nerve hypoplasia (9 of 9), panhypopituitarism (5 of 9), and neurodevelopmental delays. Conclusions: Primary imaging features of SOD are "continuous" FHs with complete or partial absence of the CSP. Septo‐optic dysplasia can be suspected in utero and can appear isolated but has substantial associated central nervous system anomalies identified on fetal MRI or after birth. Partial absence of the CSP can be a prenatal sign of suspected SOD, although fetal MRI lacked the spatial resolution to identify it accurately in all cases. [ABSTRACT FROM AUTHOR]

Objectives: To assess the natural evolution of the size of the fetal lateral ventricles throughout pregnancy in fetuses with callosal anomalies. Methods: Cases of fetal callosal anomalies were retrospectively classified as isolated or complex based on the presence of other structural or genetic anomalies. Longitudinal ultrasound studies were reviewed, and postnatal outcomes were retrieved for isolated cases. Results: In 135 fetuses, those who first presented after 24 weeks' gestation were more likely to have ventriculomegaly (n = 58 of 68 [85%]) than those who presented before 24 weeks (n = 39 of 67 [58%]; P <.001). In 79 cases that had longitudinal follow‐up, the mean increase in ventricular width was 0.6 mm/wk, without a significant difference between isolated and complex cases (mean ± SD, 0.6 ± 1.5 versus 0.6 ± 1.1 mm; P =.45). Conclusions: Callosal anomalies are associated with progressive ventriculomegaly on prenatal ultrasound imaging, without a difference between isolated and complex anomalies. This feature should be considered part of the disease spectrum. The consequence of progressive ventriculomegaly on the long‐term neurodevelopmental outcome is still unknown, and further studies should be aimed at obtaining long‐term follow‐up of these cases. [ABSTRACT FROM AUTHOR]

Objectives: The diagnosis of fetal growth restriction (FGR) is managed with close fetal surveillance and often requires iatrogenic delivery, as there is an associated increased risk of fetal demise. However, there is no standard reference for fetal growth. We sought to compare the intrauterine growth curve of Hadlock et al (Radiology 1991; 181:129–133) to other known growth curves to determine which one best identifies fetuses at risk without overburdening the patient and health care system with unnecessary intervention. Methods: We retrospectively reviewed charts of singleton euploid pregnancies with a diagnosis of FGR (per Hadlock) at a tertiary care center from June 2014 to May 2015. We applied the estimated fetal weights from ultrasound at diagnosis of FGR to 4 population‐based growth curves by Brenner et al (Am J Obstet Gynecol 1976; 126:555–564), Williams et al (Obstet Gynecol 1982; 59:624–632), Alexander et al (Obstet Gynecol 1996; 87:163–168), and Duryea et al (Obstet Gynecol 2014; 124:16–22) and reassessed the incidence of FGR using each curve. We reviewed pregnancy demographics, risk factors, pregnancy management, and outcomes of FGR cohorts on each curve to evaluate whether poor outcomes may be missed or interventions may be avoided using the population‐based curves. A sensitivity analysis was also done to see how well each curve predicted small‐for‐gestational‐age birth weights. Results: Applying any of the population‐based growth curves decreased the number of FGR diagnoses, iatrogenic deliveries, and primary cesarean deliveries. Brenner's growth curve identified the least number of FGR diagnoses at 22 of the 107 identified by Hadlock. Williams' growth curve performed best in the sensitivity analysis with sensitivity of 99% and specificity of 97%. A small number of patients with absent/reversed end‐diastolic flow would have been missed by applying the population curves. Conclusions: Applying the population‐based growth curves instead of Hadlock's for diagnosis of FGR decreases its incidence, therefore decreasing the number of visits for ultrasound and fetal surveillance and the number of iatrogenic deliveries. However, using these curves could miss a few fetuses with increased risk of fetal demise. [ABSTRACT FROM AUTHOR]

Objectives: To report the rate of additional central nervous system (CNS) anomalies detected exclusively on prenatal magnetic resonance imaging (MRI) in fetuses diagnosed with isolated mild or moderate ventriculomegaly (VM) on ultrasound, according to the type of ultrasound protocol adopted (dedicated neurosonography vs standard assessment of the fetal brain), and to explore whether the diagnostic performance of fetal MRI in detecting such anomalies is affected by gestational age at examination and laterality and degree of ventricular dilatation.Methods: MEDLINE, EMBASE, CINAHL and Clinicaltrials.gov were searched for studies reporting on the prenatal MRI assessment of fetuses diagnosed with isolated mild or moderate VM (ventricular dilatation of 10-15 mm) on ultrasound. Additional anomalies detected only on MRI were classified as callosal, septal, posterior fossa, white matter, intraventricular hemorrhage, cortical, periventricular heterotopia, periventricular cysts or complex malformations. The rate of additional anomalies was compared between fetuses diagnosed on dedicated neurosonography, defined as a detailed assessment of the fetal brain, according to the International Society of Ultrasound in Obstetrics and Gynecology guidelines, and those diagnosed on standard fetal brain assessment. The rate of additional CNS anomalies missed on prenatal MRI and detected only at birth was calculated and compared between fetuses that had early (at or before 24 weeks' gestation) and those that had late (after 24 weeks) MRI. Subanalysis was performed according to the laterality (uni- vs bilateral) and degree (mild vs moderate, defined as ventricular dilatation of 10-12 and 13-15 mm, respectively) of ventricular dilatation. Whether MRI assessment led to a significant change in prenatal management was explored. Random-effects meta-analysis of proportions was used.Results: Sixteen studies (1159 fetuses) were included in the systematic review. Overall, MRI detected an anomaly not identified on ultrasound in 10.0% (95% CI, 6.2-14.5%) of fetuses. However, when stratifying the analysis according to the type of ultrasound assessment, the rate of associated anomalies detected only on MRI was 5.0% (95% CI, 3.0-7.0%) when dedicated neurosonography was performed compared with 16.8% (95% CI, 8.3-27.6%) in cases that underwent a standard assessment of the fetal brain in the axial plane. The overall rate of an additional anomaly detected only at birth and missed on prenatal MRI was 0.9% (95% CI, 0.04-1.5%) (I2 , 0%). There was no difference in the rate of an associated anomaly detected only after birth when fetal MRI was carried out before, compared with after, 24 weeks of gestation (P = 0.265). The risk of detecting an associated CNS abnormality on MRI was higher in fetuses with moderate than in those with mild VM (odds ratio, 8.1 (95% CI, 2.3-29.0); P = 0.001), while there was no difference in those presenting with bilateral, compared with unilateral, dilatation (P = 0.333). Finally, a significant change in perinatal management, mainly termination of pregnancy owing to parental request, following MRI detection of an associated anomaly, was observed in 2.9% (95% CI, 0.01-9.8%) of fetuses undergoing dedicated neurosonography compared with 5.1% (95% CI, 3.2-7.5%) of those having standard assessment.Conclusions: In fetuses undergoing dedicated neurosonography, the rate of a CNS anomaly detected exclusively on MRI is lower than that reported previously. Early MRI has an excellent diagnostic performance in identifying additional CNS anomalies, although the findings from this review suggest that MRI performed in the third trimester may be associated with a better detection rate for some types of anomaly, such as cortical, white matter and intracranial hemorrhagic anomalies. Copyright © 2018 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

Objectives: To investigate the applicability and value of ultrasound (US) in the diagnosis of anorectal atresia. Methods: Between January 2008 and January 2016, we prospectively evaluated 63,101 fetuses (gestational age, 20–38 weeks), including low‐ and high‐risk populations using 2‐dimensional US scans. An abnormal imaging finding was defined as an anal canal diameter of less than the 95% confidence interval (small anal canal) of the normal range or the absence of an anal canal and rectum. Imaging findings were considered normal on detection of an anal canal with a normal width and the absence of abnormalities. Prenatal imaging findings were confirmed by a postnatal or postmortem examination. Results: Among the investigated fetuses, 28 showed evidence of anorectal atresia on US scans, and 22 of those with anorectal atresia had additional anomalies. Six cases of isolated anorectal atresia were successfully detected during the preclusive prenatal US scans. Four cases of a low imperforate anus (including 2 covered anuses) yielded false‐negative results, indicating a diagnostic rate of 87.5% (28 of 32). The normal appearance of the fetal rectum and anal canal ruled out anorectal atresia in 30 fetuses with a dilated colon. Additionally, there were 3 false‐positive cases, in which a narrow anal canal was observed. Conclusions: Identifying the abnormal appearance or absence of the fetal anal canal and rectum on preclusive US anomaly scans is useful for prenatal diagnosis or exclusion of anorectal atresia, which may help improve the detection of isolated anorectal atresia. Furthermore, a combined evaluation of the longitudinal and axial appearances of the fetal anal canal and rectum can improve diagnostic accuracy. [ABSTRACT FROM AUTHOR]

Objectives: To examine ductus venosus (DV) flow in fetuses with and those without a cardiac defect and to evaluate different phases of DV flow in addition to the standard assessment of DV pulsatility index for veins (PIV) and the a-wave.Methods: This was a retrospective study of singleton pregnancies that underwent first-trimester ultrasound screening, which included DV flow assessment, at the University of Tübingen (between 2010 and 2017) or the University of Cologne (between 2013 and 2016). The study population comprised normal fetuses and fetuses with major cardiac defects at a ratio of 10:1. For each fetus, the following parameters of the DV waveform were evaluated: qualitative assessment of the a-wave, PIV measurement and ratios of flow velocities during the S-wave (S) or D-wave (D) and the a-wave (a) or v-wave (v). Reproducibility of DV-PIV and DV flow ratios was evaluated in 30 fetuses in which the DV flow was assessed twice.Results: Our study population included 480 anatomically normal fetuses and 48 with a cardiac defect. Median fetal nuchal translucency (NT) in the normal and in the affected group was 1.9 mm and 2.6 mm, respectively. In five (1.0%) of the normal and 18 (37.5%) of the affected cases, fetal NT thickness was above the 99th centile. In the normal group, the DV a-wave was reversed in 15 (3.1%) cases and the DV-PIV was above the 95th centile in 25 (5.2%). In the cases with cardiac defects, the a-wave was reversed and the DV-PIV measurement was above the 95th centile in 26 (54.2%). The reproducibility of measurement of the ratios of DV flow velocities was similar to that of the DV-PIV. Most cardiac defects were associated with an abnormal a/S or a/D ratio. If the cut-off for these two ratios was set at the 5th centile of the normal distribution, the detection rate of fetal cardiac anomalies would be 62.5%. This compares favorably with the DV-PIV, which detects 26 (54.2%) of the affected fetuses for the same threshold.Conclusion: In the first trimester, the a/S ratio has the potential to detect approximately 60% of congenital cardiac defects for a false-positive rate of 5%. Copyright © 2018 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

Key Clinical Message: Apert syndrome in monozygotic twins can lead to different phenotypic expression of the disease in the two fetuses. Apert syndrome can be associated with congenital left diaphragmatic hernia and cleft palate. Apert syndrome in monozygotic twins can lead to different phenotypic expression of the disease in the two fetuses. Apert syndrome can be associated with congenital left diaphragmatic hernia and cleft palate. [ABSTRACT FROM AUTHOR]

Objective: To describe the mediating effect of maternal gestational diabetes on fetal biometry and adiposity measures among overweight or obese pregnant women.Design: Secondary analysis of the LIMIT randomised trial.Setting: Public hospitals, metropolitan Adelaide, South Australia.Population: Pregnant women with body mass index (BMI) ≥25 kg/m2 and singleton gestation.Methods: Fetal ultrasound measures at 36 weeks of gestation and baseline BMI from women randomised to the LIMIT trial Standard Care group (n = 912 women) were used to conduct causal mediation analyses using regression-based methods.Main Outcomes Measures: Ultrasound measures of fetal biometry and adiposity at 36 weeks of gestation.Results: Increased maternal BMI was associated with increased measures of fetal head circumference [direct (unmediated) effect 0.18 (95% CI: 0.05-0.31), P = 0.005; total effect 0.17 (95% CI: 0.02-0.31), P = 0.018], abdominal circumference [direct effect 0.26 (95% CI: 0.11-0.41), P = 0.001; total effect 0.26 (95% CI: 0.11-0.42), P = 0.001] and estimated fetal weight [direct effect 0.22 (95% CI: 0.08-0.35), P = 0.002; total effect 0.22 (95% CI: 0.08-0.35), P = 0.002], with no evidence of mediation by treated gestational diabetes. There was no apparent association between maternal BMI and fetal adiposity measures, or mediation by treated gestational diabetes.Conclusions: We show an important association between increased maternal BMI and fetal growth, not mediated by treated gestational diabetes. There was no association between increased maternal BMI and fetal adiposity measures, or mediation by treated gestational diabetes. Whether these findings represent 'saturation' in the effect of maternal BMI on fetal growth or the effect of treatment of GDM is unclear.Funding: This project was funded by a 4-year project grant from the National Health and Medical Research Council (NHMRC), Australia (ID 519240); The Channel 7 Children's Research Foundation, South Australia; and the US National Institutes of Health (R01 HL094235-01).Tweetable Abstract: Increased fetal growth associated with maternal obesity is not mediated by gestational diabetes. [ABSTRACT FROM AUTHOR]

Objectives: To evaluate the perinatal survival and renal function of fetuses with lower urinary tract obstruction (LUTO) who underwent vesicoamniotic shunting using a double‐basket catheter Methods: We retrospectively reviewed 32 fetuses with LUTO who underwent vesicoamniotic shunting using a double‐basket catheter between 1998 and 2013. Results: Among the 32 fetuses examined, 5 died because of termination of pregnancy, and 2 died in utero. The median gestational age at diagnosis was 15.5 (range, 10.0–27.3) weeks, and that at initial shunting was 17.1 (range, 12.3–32.2) weeks. Shunt dislocation or occlusion occurred in 18 of 42 procedures (42.8%). The median gestational age at delivery for the 25 live births was 35.5 (range, 28–40) weeks. Postnatal diagnosis revealed posterior urethral valves in 15 fetuses, a cloacal anomaly in 7, and urethral stenosis in 3. Three neonatal deaths occurred, resulting in an overall perinatal survival rate of 68.8% (22 of 32). The rates of normal renal function were 40.6% (13 of 32) at 28 days and 40% (10 of 25) at 2 years after birth. The absence of oligohydramnios after shunting was the only prognostic factor for normal renal function at 2 years (P < .05). Conclusions: Vesicoamniotic shunting may be helpful for fetuses with LUTO. [ABSTRACT FROM AUTHOR]

Objectives: To identify antenatal predictors of persistent pulmonary hypertension (PPH) and the need for extracorporeal membrane oxygenation (ECMO) in fetuses with congenital diaphragmatic hernia (CDH).Methods: We performed a systematic literature review on antenatal diagnostic tests in fetuses with isolated CDH. The primary outcomes assessed were PPH within 28 days of age and the need for ECMO. Quality of studies was assessed with the QUADAS-2 tool. Meta-analysis was performed when at least three studies reported on the same test. Sensitivity analysis was performed according to prenatal management of CDH (tracheal occlusion vs expectant management).Results: Thirty-eight studies met the inclusion criteria. Fifteen reported on the incidence of PPH only, 19 on the need for ECMO only and four reported on both outcomes. The general quality of the studies was moderate; most studies were retrospective (61%) and single-center series (92%). One study included only fetuses undergoing tracheal occlusion, 22 included only fetuses managed expectantly in utero and 15 included both populations. We could not identify antenatal predictors of PPH. The need for ECMO was predicted by parameters indicative of lung size: lung-to-head ratio (LHR) (relative risk (RR) for LHR < 1, 1.65 (95% CI, 1.27-2.14)) and observed/expected LHR (standardized mean difference (SMD), -0.70 (95% CI, -0.98 to -0.42)) measured by ultrasound and observed/expected total lung volume (SMD, -1.00 (95% CI, -1.52 to -0.48)) measured by magnetic resonance imaging. Liver herniation was also associated with an increased risk of need for ECMO (RR, 3.04 (95% CI, 2.23-4.14)). These results were confirmed by a sensitivity analysis of studies that included only expectantly managed cases. Data on vascular assessment for the prediction of PPH could not be pooled as most of the parameters were evaluated in a single series or in different series by the same principal investigator.Conclusions: In fetuses with CDH, lung size and liver herniation predict the need for ECMO, however a predictor for PPH is still lacking. Further studies aimed at diagnosing impaired vascular development in utero should therefore be undertaken. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

Key Clinical Message Fetal malformations detected through routine prenatal ultrasound examination comprise a heterogeneous group potentially associated with genetic disorders where the underlying cause is difficult to establish. We present the prenatal diagnosis of a rare X-linked myopathy involving a new VMA21 gene mutation, detected through a novel prenatal exome sequencing-based approach. [ABSTRACT FROM AUTHOR]

We present a previously unreported association between the sonographic finding of an echogenic cavum septi pellucidi (CSP), concurrent hypointense signal within the CSP on fetal MRI and postnatal MR evidence of dysgenesis of the rostrum and genu of the corpus callosum as well as abnormal shortening of the septal leaflets. An echogenic or non‐fluid filled CSP in the fetus at the midtrimester ultrasound is likely to represent a form of mild callosal dysgenesis. Perinatal assessment of vision and endocrine function and clinical follow‐up of neurodevelopment and growth are probably indicated in such cases. [ABSTRACT FROM AUTHOR]

Objectives: Congenital heart defects (CHDs) are reported to be associated with a smaller fetal head circumference (HC) and neurodevelopmental delay. Recent studies suggest that altered intrauterine brain hemodynamics may explain these findings. Our objectives were to evaluate the pattern of head growth in a large cohort of fetuses with various types of CHD, analyze these patterns according to the type of CHD and estimate the effect of cerebral hemodynamics with advancing gestation in the second and third trimesters.Methods: Singleton fetuses with an isolated CHD were selected from three fetal medicine units (n = 436). Cases with placental insufficiency or genetic syndromes were excluded. CHD types were clustered according to the flow and oxygen saturation in the aorta. Z-scores of biometric data were constructed using growth charts of a normal population. HC at different gestational ages was evaluated and univariate and multivariate mixed regression analyses were performed to examine the patterns of prenatal HC growth.Results: Fetuses with severe and less severe types of CHD demonstrated statistically significant HC growth restriction with increasing gestational age (slope of -0.017/day); however, there was no statistically significant effect of fetal hemodynamics on HC growth. Fetuses with CHD but normal brain oxygenation and normal aortic flow showed a significant decrease in HC growth (slope of -0.024/day). Only fetuses with isolated tetralogy of Fallot demonstrated a smaller HC z-score at 20 weeks of gestation (-0.67 (95% CI, -1.16 to -0.18)).Conclusions: Despite the decline in head growth in fetuses with a prenatally detected isolated CHD, HC values were within the normal range, raising the question of its clinical significance. Furthermore, in contrast to other studies, this large cohort did not establish a significant correlation between aortic flow or oxygen saturation and HC growth. Factors other than altered fetal cerebral hemodynamics may contribute to HC growth restriction with increasing gestational age, such as (epi)genetic or placental factors. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

Introduction The cranial sutures allow for growth of the developing brain in both the pre- and post-natal period but also play a crucial role in vaginal delivery. Birth problems are commonly reported by the mothers of children with craniosynostosis and, in particular, sagittal synostosis. Methods Patients presenting with all forms of craniosynostosis were identified through a search of computer records, and the antenatal imaging was obtained and examined. The fetal cranial measurements including biparietal diameter, occipitofrontal diameter and head circumference were recorded, and the cephalic index ( CI) was calculated for each affected fetus. A birth history was also recorded. Results Scans in both the second and third trimesters were available for 28 fetuses who had sagittal synostosis. Eight fetuses (29%) had a significant reduction in CI (>3) between the morphology and growth scans. There was an increase in the number of emergency caesarean deliveries in women whose fetuses had sagittal synostosis when compared with the general population (22% vs. 17%). Conclusion The calculation of CI can be performed routinely at antenatal scanning. A value outside the normal range or a change in CI during the pregnancy should prompt detailed scanning of the fetal skull and cranial sutures. This will assist obstetricians with delivery planning. [ABSTRACT FROM AUTHOR]

ABSTRACT Substance-abusing pregnant and parenting women are considered one of the most challenging, but important, target groups for developing early parenting interventions. Some valuable efforts to develop such interventions have been made in the organizational sector in Finland. However, there is a great need for new ways of work that would simultaneously concentrate in substance-abuse treatment and enhance parenting in public healthcare settings. The present article describes the background, content, and protocol of a new prenatal intervention developed for substance-abusing pregnant women in a hospital setting in public healthcare. The intervention includes two new elements and pathways aimed to enhance the mothers' curiosity toward her developing child and provide motivation to stay abstinent from substance use. The pathways are interactive ultrasound consultation and a new pregnancy diary, both using a parental mentalization focus. The intervention elements, experiences from running the intervention, evaluation protocol, and general characteristics of the study sample gained ( n = 90) are described and discussed. Two case vignettes from the study sample are presented, and the applicability of this prenatal work with other groups and settings is considered. [ABSTRACT FROM AUTHOR]

Background: Fetal anterior, middle, and posterior cerebral arteries have been studied using transabdominal Doppler ultrasound. We performed a feasibility study to determine whether basilar artery can be identified and blood flow velocities measured using transabdominal fetal Doppler ultrasound. Methods: The basilar artery was identified in sagittal plane behind the clivus bone using directional color Doppler with 6-2 and 7-4 MHz curved array probes. The clivus was identified by hyperechoic linear signal anterior to junction of vertebral processes and occipital bone and superior to first vertebral body. The flow direction was away from the probe in the basilar artery consistent with caudo cephalic orientation. The Doppler ultrasound probe was placed at insonation angles of less than 30° at the visualized segment of the basilar artery. Peak systolic and end diastolic velocities were measured. Results: We attempted insonation of the basilar artery in 20 fetuses. The basilar artery was adequately insonated in 18 fetuses with a mean gestational age of 27 weeks (range 19 to 38 weeks). The mean value (±SD) of peak systolic velocity of the basilar artery was 22.1 ± 8.5 cm/second (range 10.4-36.7 cm/second). The mean value (±SD) of end diastolic velocity was 6.8 ± 2.8 cm/second (range 3.5-13.5 cm/second). There was an increase in peak systolic velocity values according to gestational age of fetus. Conclusions: We demonstrate the feasibility of fetal basilar artery insonation using directional color Doppler ultrasound via transabdominal approach. [ABSTRACT FROM AUTHOR]

Our study was designed to analyze prenatal manifestations in patients affected with cardio-facio-cutaneous syndrome (CFCS), in order to define indications of DNA testing in utero. Prenatal features were extracted from a national database and additional data were collected from 16 families contacted through the French association of CFC-Costello syndrome. We collected results of ultrasound scan (USS) biometrics, presence of congenital birth defects, and polyhydramnios. From the database, increased nuchal translucency was present in 13% of pregnancies, polyhydramnios in 52%, macrosomia and/or macrocephaly in 16%. Of the 16 pregnancies, 81% were complicated by abnormal USS findings. Polyhydramnios was reported in 67%. Head circumference, biparietal diameter, and abdominal circumference were above the 90th centile in 72%, 83% and, 81% of fetuses, respectively. Contrasting with macrosomia, femur length was below the 10th centile in 38%. Urinary tract abnormalities were found in 47% of fetuses. Most CFCS fetuses showed a combination of macrocephaly, macrosomia, and polyhydramnios, contrasting with relatively short femora. This growth pattern is also seen in Costello syndrome. We suggest that screening for CFCS and Costello gene mutations could be proposed in pregnancies showing this unusual pattern of growth parameters. © 2015 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

Objective: To report the influence of maternal overweight and obesity on fetal growth and adiposity and effects of an antenatal dietary and lifestyle intervention among these women on measures of fetal growth and adiposity as secondary outcomes of the LIMIT Trial.Design: Randomised controlled trial.Setting: Public maternity hospitals in metropolitan Adelaide, South Australia.Population: Pregnant women with a body mass index ≥ 25 kg/m(2), and singleton gestation between 10(+0) and 20(+0) weeks.Methods: Women were randomised to Lifestyle Advice or continued Standard Care and offered two research ultrasound scans at 28 and 36 weeks of gestation.Main Outcome Measures: Ultrasound measures of fetal growth and adiposity.Results: For each fetal body composition parameter, mean Z-scores were substantially higher when compared with population standards. Fetuses of women receiving Lifestyle Advice demonstrated significantly greater mean mid-thigh fat mass, when compared with fetuses of women receiving Standard Care (adjusted difference in means 0.17; 95% CI 0.02-0.32; P = 0.0245). While subscapular fat mass increased between 28 and 36 weeks of gestation in fetuses in both treatment groups, the rate of adipose tissue deposition slowed among fetuses of women receiving Lifestyle Advice, when compared with fetuses of women receiving Standard Care (P = 0.0160). No other significant differences were observed.Conclusions: These findings provide the first evidence of changes to fetal growth following an antenatal dietary and lifestyle intervention among women who are overweight or obese. [ABSTRACT FROM AUTHOR]

Objective To describe the sonographic features of fetal cephalocele diagnosed at the time of first-trimester ultrasound screening for aneuploidy. Methods This was a retrospective review of cases of cephalocele diagnosed in the first trimester at four fetal medicine referral centers. Once diagnosis was suspected, a transvaginal ultrasound examination was offered to improve depiction of the cranial defect and enhance examination of fetal anatomy, with special attention given to the location, size and content of defects. To assure consistency in diagnosis, representative pictures and videoclip sequences of the cranial defect were obtained and reviewed by at least two authors. Cases were classified and compared with the assessment made at diagnosis. Results Of the 35 affected fetuses identified, 33 were of a singleton pregnancy and two were of twin pregnancies in which the other fetus was unaffected. The lesion was classified as a cranial meningocele in 13 (37%) cases and as an encephalocele in 22 (63%). The bone defect was occipital in 27 (77%), frontal in three (9%), parietal in three (9%) and non-classifiable in two (6%). Twelve (34%) were considered as small in size, 11 (31%) as medium and 12 (34%) as large. There were no reported cases of aneuploidy; however, four (11%) cases were associated with Meckel-Gruber syndrome, two (6%) with a disruptive syndrome and one (3%) with skeletal dysplasia. Eight (23%) pregnancies were lost to follow-up. Parents opted for termination of pregnancy in 21 of the 27 remaining cases and, of the six ongoing pregnancies, four patients miscarried or the fetus died in utero during the second trimester, one liveborn infant died shortly after delivery and one underwent neonatal surgery for an isolated cranial meningocele and is currently doing well. Conclusions First-trimester sonographic diagnosis of cephalocele is accomplished easily with a detailed examination of the skull contour at the time of routine assessment of the axial and sagittal views of the head for measurement of the biparietal diameter and nuchal translucency, respectively. However, the sonographic features are highly variable. A significant proportion of cases are associated with genetic or disruptive syndromes. Prenatal diagnosis of cephalocele in the first trimester was associated with a high rate of termination of pregnancy and early intrauterine fetal demise. Only one fetus in this series survived and is neurologically intact; therefore, the prognosis of this condition remains poor. [ABSTRACT FROM AUTHOR]

Objective To examine the long-term neuropsychological outcome of children with a prenatal diagnosis of asymmetric ventricles or unilateral ventriculomegaly. Design A clinic-based neuropsychological study. Setting Paediatric neurology clinic. Population Thirty-three of 41 children, previously assessed at kindergarten age, with asymmetric ventricles or unilateral ventriculomegaly identified in utero, were recruited at school age for a neuropsychological follow-up. Methods All children, 9-11 years of age, underwent a battery of neuropsychological tests and the parents completed behavioural rating questionnaires. Main outcome measures Results of the neuropsychological assessment and parents' questionnaires. Results There were no significant differences between children diagnosed with either asymmetric ventricles or unilateral ventriculomegaly in most parameters relative to the general population; the full-scale IQ scores were 103.13 ± 12.43 and 103.56 ± 10.5, respectively. A significantly lower performance was found only on one measure of attention among the unilateral ventriculomegaly group and on writing speed tasks among the asymmetric ventricles group. Both study groups showed significantly higher scores than expected in the normal population on a verbal fluency test. Comparison of both groups combined with the normative population yielded significantly lower scores only in attention tests. Yet, the clinical population showed significantly higher scores on writing accuracy, processing speed and verbal fluency and lower rates of executive dysfunction. Conclusions Asymmetric ventricles or unilateral ventriculomegaly identified in utero does not appear to affect long-term mental development and school achievements. Further prospective research on a larger sample is needed in order to confirm our findings. [ABSTRACT FROM AUTHOR]

We present the prenatal case of a 12.5-Mb duplication involving 6q25-qter and a 12.2-Mb deletion encompassing 10q26-qter diagnosed by aCGH, while conventional karyotype showed normal results. The genotype-phenotype correlation between individual microarray and clinical findings adds to the emerging atlas of chromosomal abnormalities associated with specific prenatal ultrasound abnormalities. [ABSTRACT FROM AUTHOR]

ABSTRACT Objectives To analyze literature on the additional value of fetal magnetic resonance imaging (MRI) in assessing central nervous system (CNS) anomalies suspected by ultrasound. Methods A search was performed of PubMed, EMBASE, Cochrane library and the reference lists of identified articles. Inclusion criteria were CNS anomalies suspected/diagnosed by ultrasound, MRI performed after ultrasound, and postmortem examination by autopsy or postnatal assessment. MOOSE guidelines were followed. Outcomes assessed were positive/negative agreement between ultrasound and MRI, additional information provided by MRI, and discordance between ultrasound and MRI. Pooled sensitivity and specificity of MRI were calculated using the DerSimonian-Laird method. Postnatal/postmortem examinations were used as the reference standard. Results We identified thirteen articles which included 710 fetuses undergoing both ultrasound and MRI. MRI confirmed ultrasound-positive findings in 65.4% of fetuses and provided additional information in 22.1%. MRI disclosed CNS anomalies in 18.4% of fetuses. In 2.0% of cases, ultrasound was more accurate than MRI. In 30% of fetuses, MRI was so different from ultrasound that the clinical management changed. Agreement was observed mainly for ventriculomegaly (51.3%). Disagreement was noted mainly for midline anomalies (48.6%). Pooled sensitivity of MRI was 97% (95% CI, 95-98%) and pooled specificity was 70% (95% CI, 58-81%). Conclusions MRI supplements the information provided by ultrasound. It should be considered in selected fetuses with CNS anomalies suspected on ultrasound. Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

ABSTRACT Objective To determine associations between fetal lung and liver herniation volumes measured by magnetic resonance imaging ( MRI) and mortality/need for extracorporeal membrane oxygenation ( ECMO) in cases of isolated congenital diaphragmatic hernia ( CDH). A secondary objective was to compare prenatal MRI parameters with two-dimensional ultrasound lung measurements. Methods A retrospective review of medical records of all fetuses with isolated CDH evaluated between January 2004 and July 2012 was performed. The following MRI parameters were measured at 20-32 weeks: observed/expected total fetal lung volume (o/e- TLV), predicted pulmonary volume ( PPV), percentage of liver herniated into the fetal thorax (% LH) and the liver/thoracic volume ratio ( LiTR). These were compared with the ultrasound-determined lung-to-head ratio ( LHR) and the observed/expected LHR (o/e- LHR) in the same cohort. The predictive value of MRI and ultrasound parameters for mortality and the need for ECMO was evaluated by univariate, multivariate and factor analysis and by receiver-operating characteristics curves. Results Eighty fetuses with isolated CDH were evaluated. Overall mortality was 18/80 (22.5%). Two newborns died a few hours after birth. ECMO was performed in 29/78 (37.2%) newborns, with a survival rate of 48.3% (14/29). The side of the diaphragmatic defect was not associated with mortality ( P = 0.99) or the need for ECMO ( P = 0.48). Good correlation was observed among o/e- TLV, PPV, LHR and o/e- LHR as well as between % LH and LiTR ( r = 0.89; P < 0.01); however, fetal lung measurements and measures of liver herniation were not correlated (all P > 0.05). All parameters were statistically associated with mortality or the need for ECMO. The best combination of measurements to predict mortality was o/e- TLV and % LH, with 83% accuracy. Conclusion Mortality and the need for ECMO in neonates with isolated CDH can be best predicted using a combination of MRI o/e- TLV and % LH. Copyright © 2013 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

ABSTRACT Objective To examine the feasibility and accuracy of fetal nasal bone ( NB) assessment in the retronasal triangle ( RNT) view for aneuploidy screening in the first trimester of pregnancy. Methods Consecutive women with singleton pregnancies undergoing sonographic screening at 11-13 weeks' gestation were prospectively evaluated. In all cases, assessment of the NB by using the RNT view was attempted and classified as present (if one or both of the NBs were clearly seen) or absent/hypoplastic (if the NB was not visualized or if it was small and less echogenic than the surrounding bones). The detection rate of fetal karyotypic abnormalities by the assessment of the NB in the RNT view was calculated. Results In total, 1977 women were scanned. The RNT was successfully examined in 1970 fetuses (99.6%). Fetal outcome was available in 1767 (89.7%) of evaluated cases, and of these, 39 (2.2%) cases of aneuploidy were documented (trisomy 21, n = 17; trisomy 18, n = 8; trisomy 13, n = 5; Turner syndrome, n = 5; and triploidy, n = 4). The prevalence of absent/hypoplastic NB was 12/1728 (0.7%) in chromosomally normal fetuses and 12/17 (70.6%) in trisomy 21 fetuses. Sensitivity, specificity and positive and negative predictive values of absent/hypoplastic NB for trisomy 21 were 70.6%, 99.3%, 50.0% and 99.7%, respectively. The positive and negative likelihood ratios of NB assessment were 101 (95% CI, 53-193) and 0.3 (95% CI, 0.14-0.62), respectively. Conclusions The RNT view is a useful technique for assessing the NB during the first trimester of pregnancy. With this new approach, performance of absent/hypoplastic NB as a marker of aneuploidy, mainly trisomy 21, appears to be similar to that previously reported by using the mid-sagittal plane. Copyright © 2013 ISUOG. Published by John Wiley & Sons Ltd [ABSTRACT FROM AUTHOR]

Objective To evaluate the prognosis of prenatally diagnosed vein of Galen aneurysmal malformation ( VGAM) in a large cohort with this condition and to review the literature on prenatally diagnosed VGAM. Methods This was a retrospective study of all cases of prenatally diagnosed VGAM managed in our referral center during a 12-year period. VGAM was categorized as being either isolated or associated with any other abnormality, based on fetal ultrasound and magnetic resonance imaging findings. Poor outcomes comprised termination of pregnancy with confirmation of antenatal findings, perinatal death and severe cardiac and/or neurological impairment in survivors. The literature was also reviewed for similar cases. Results Twenty-one cases of prenatally diagnosed VGAM were managed in our center. Four (19.0%) cases were isolated and 17 (81.0%) were associated with other anomalies. There were nine terminations (42.9%) and six neonatal deaths (28.6%). Six children (28.6%) were still alive at last follow-up, of whom three had abnormal neurological development. VGAM associated with other anomalies was strongly associated with a poor outcome compared with isolated forms (P < 0.0001). One hundred and nine cases from the literature were also reviewed. Conclusion Fetuses with prenatally diagnosed VGAM have unexpectedly poor outcomes in the presence of cardiac or cerebral anomalies, while those with strictly isolated VGAM tend to have more favorable outcomes. Our literature review corroborates these findings. [ABSTRACT FROM AUTHOR]

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

Congenital chloride diarrhea (CCD) is a rare disease characterized by profound, watery diarrhea. It is inherited as an autosomal recessive trait and is caused by a dysfunction of electrolyte transport in the brush border of the ileum. CCD is a medically treatable condition but is frequently misdiagnosed as a surgically treatable condition, such as bowel obstruction, because of similar antenatal ultrasonographic findings. Therefore, a correct diagnosis is of upmost importance before treatment initiation. Although some methods for antenatal differential diagnosis were reported, antenatal diagnosis of CCD remains difficult. Here, we report the case of a patient with CCD, which was presumed antenatally and confirmed postnatally. We also discuss the results of antenatal ultrasonography and amniocentesis and provide some tips regarding ultrasonographic findings for the antenatal differential diagnosis of CCD. Further, we present a brief literature review. [ABSTRACT FROM AUTHOR]

Objectives To investigate whether sonographic identification of the fetal perianal muscular complex (PAMC) is of value in the prenatal detection of anorectal atresia in a high-risk population. Methods During an 8-year study period, a total of 189 pregnancies at high risk for fetal anorectal atresia were prospectively examined for the presence/absence of the PAMC on axial ultrasound views of the fetal perineum. The prenatal findings were confirmed postnatally or at the time of postmortem examination. Results The median gestational age at examination was 27 (range, 15-37) weeks. The PAMC was identified in 175 fetuses, all of which had a normal anorectal canal at the time of delivery or at postmortem examination. The PAMC was not identified prenatally in the 14 remaining cases, and the anus was absent in 11 fetuses with anorectal atresia and in two with urorectal septum malformation sequence. There was one false-positive case, in which the anus was anatomically and functionally normal but ectopically located, opening into the vaginal vestibule. Among these 14 cases of anorectal malformation, prenatal dilatation of the distal bowel was seen in nine (64.3%) and intraluminal calcified meconium or enterolithiasis in five (35.7%). Overall, absent PAMC on prenatal sonography in this high-risk population had a sensitivity of 100%, specificity of 99%, true-positive rate of 93% and false-positive rate of 7% for the diagnosis of anorectal atresia. Conclusions In a high-risk population, the absence of PAMC seems to be a highly sensitive and specific sonographic marker for anorectal atresia. The role of routine sonographic identification of the PAMC at the second-trimester scan to screen for cases of isolated anal atresia remains to be determined. Copyright © 2012 ISUOG. Published by John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

Objectives To improve the prenatal diagnosis of achondroplasia by constructing charts of fetal size, defining frequency of sonographic features and exploring the role of non-invasive molecular diagnosis based on cell-free fetal deoxyribonucleic acid (DNA) in maternal plasma. Methods Data on fetuses with a confirmed diagnosis of achondroplasia were obtained from our databases, records reviewed, sonographic features and measurements determined and charts of fetal size constructed using the LMS (lambda-mu-sigma) method and compared with charts used in normal pregnancies. Cases referred to our regional genetics laboratory for molecular diagnosis using cell-free fetal DNA were identified and results reviewed. Results Twenty-six cases were scanned in our unit. Fetal size charts showed that femur length was usually on or below the 3rd centile by 25 weeks' gestation, and always below the 3rd by 30 weeks. Head circumference was above the 50th centile, increasing to above the 95th when compared with normal for the majority of fetuses. The abdominal circumference was also increased but to a lesser extent. Commonly reported sonographic features were bowing of the femora, frontal bossing, short fingers, a small chest and polyhydramnios. Analysis of cell-free fetal DNA in six pregnancies confirmed the presence of the c.1138G > A mutation in the FGRF3 gene in four cases with achondroplasia, but not the two subsequently found to be growth restricted. Conclusions These data should improve the accuracy of diagnosis of achondroplasia based on sonographic findings, and have implications for targeted molecular confirmation that can reliably and safely be carried out using cell-free fetal DNA. [ABSTRACT FROM AUTHOR]