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In this article, we discuss conventional and new advanced techniques in fetal MRI, provide an overview of the normal appearance of fetal anatomy, depict a series of general fetal abnormities among different organs. Although ultrasonography (US) shows the first-line option for fetal imaging, the rapid development of ultrafast MRI sequences has facilitated the tremendous improvement in fetus imaging, which is now regarded as an excellent modality for charactering fetal structures and relevant pathology and a supplementary to US when malformations are suspected.

Background Achondrogenesis type II is a rare autosomal dominant skeletal dysplasia with a frequency of ~0.2 per 100,000 births. It is one of the lethal short-limbed dwarfisms associated with structural mutations in type II collagen and is also known as Langer-Saldino achondrogenesis. It is characterized by severe micromelia (shortening of entire limb), narrow chest, and prominent abdomen. It shares the striking feature of partial or complete vertebral body demineralization with achondrogenesis type I. Case presentation We present a case with antenatal diagnosis of this rare entity which was confirmed by post-termination radiographs of abortus. Conclusion The imaging plays a cardinal role in the diagnosis of this condition. This case represents only the 4th case of this rare entity from India.

Prenatal ultrasound use is skyrocketing despite limited evidence of improved outcomes. One factor driving this trend is the widely recognized psychological appeal of real-time fetal imaging. Meanwhile, considering imperfect safety evidence, U.S. professional guidelines dictate that prenatal ultrasound—a screening test—should be governed by expected clinical benefits—an opportunity for intervention. However, when women’s healthcare professionals themselves are pregnant, their access to ultrasound technology permits informal, personal use that may deviate from standard-of-care, e.g., for reassurance. Highlighting a poignant case wherein a pregnant obstetrician’s personal ultrasound use had unforeseen negative consequences, we explore this issue within context of professional ethics and informal medical care. We discuss how women’s health professionals’ self-care may influence and inform prenatal care at large. We advocate curtailing informal prenatal ultrasound use, but also potentially broadening accepted indications for or relaxing proscriptions against ultrasounds for patients. Further research and updated, evidence-based, ethically-sound guidelines are needed.

With the demand for fetal imaging and fetal care programs on the rise, the authors of this manuscript review the components of building a successful fetal imaging center. Creating an environment that engages a multidisciplinary team, utilizing a central coordinator to review clinical and psychosocial aspects of each patient, and ensuring ongoing research and quality control are essential components to the success of growing a program.

Background Congenital abnormalities of the diaphragm cause impairment of lung development and are an important cause of post-natal morbidity and mortality. Congenital diaphragmatic eventration (CDE), a less sinister diaphragmatic anomaly compared to the more common congenital diaphragmatic hernia (CDH), often tends to mimic CDH on prenatal imaging. This study evaluates the role of fetal magnetic resonance imaging (MRI) in differentiating these two entities. Results This was a retrospective study which included fetal MRI studies done in patients with ultrasound diagnosis of fetal diaphragmatic anomaly. MRI exam was performed with a 1.5 T superconducting system with eight-element torso array coil. The images were studied by two radiologists experienced in fetal imaging in consensus. Diagnosis of CDE was made if the dome of the diaphragm was visualized as a thin hypointense line separating the lung from abdominal structures on coronal and sagittal MRI sequences. If this thin hypointense line was not visualized, a diagnosis of CDH was made. The findings were then correlated with autopsy/intra-operative findings/post-natal imaging follow-up. A total of 12 patients were included in the study. In these 12 patients, 13 diaphragmatic abnormalities were diagnosed on MRI (1 fetus had bilateral diaphragmatic anomaly). Of the 13 diaphragmatic anomalies detected, 7 (54%) were CDH and 6 (46%) were CDE. The type of diaphragmatic anomaly was correctly identified on MRI in all except one fetus in which CDE was misdiagnosed as CDH. The Fisher exact test statistic value was 0.0047. The result was significant at p < 0.01. Conclusion Fetal MRI is a useful tool for assessing congenital diaphragmatic anomalies. Visualization of the diaphragm on coronal and sagittal images helps in diagnosis of complete CDE and differentiating it from the more sinister CDH.

Context: The primary objective of this study was to examine the impact of maternal age, parity, gestational age, fetal gender, gestational diabetes mellitus, and pregnancy-induced hypertension on the accuracy of ultrasonography-based fetal weight estimation. The secondary objective was to find the impact of a formula selection on the accuracy of fetal weight estimation. Subjects and Methods: The inclusion criteria were a live-birth singleton pregnancy and the last ultrasound scan to delivery interval ≤7 days. Fetal weight was estimated using the Hadlock-4 formula. To study the concurrent impact of all the factors on the accuracy, cases were divided into two subcategories based on percentage error, with ±10% as a threshold. The accuracy of Hadlock-4 formula was compared with the two Indian population-based formulas, Hiwale-1 and Hiwale-2. Results: In total, 184 cases were included in the study. It was observed that the systematic error in weight estimation was significantly less in the male fetuses (8.45 ± 9.34%) in comparison to the female fetuses (11.71 ± 10.34%). The combined impact of all the factors on the accuracy was found to be nonsignificant by the multivariate analysis. The Hiwale-1 (-0.59 ± 8.75%) and Hiwale-2 (-0.65 ± 8.7%) formulas had statistically significant less errors compared to the Hadlock-4 formula (11.67 ± 7.95%). Conclusion: All the studied clinical factors were found to have a limited impact on the overall accuracy of fetal weight estimation. However, the formula selection was found to have a significant impact on the accuracy, with the native population-based formulas being significantly more accurate.

Altered brain development has been highlighted as an important contributor to adverse neurodevelopmental outcomes in children with congenital heart disease. Abnormalities begin prenatally and include micro- and macrostructural disturbances that lead to an altered trajectory of brain growth throughout gestation. Recent progress in fetal imaging has improved understanding of the neurobiological mechanisms and risk factors for impaired fetal brain development. The impact of the prenatal environment on postnatal neurological care has also gained increased focus. This review summarizes current data on the timing and pattern of altered prenatal brain development in congenital heart disease, the potential mechanisms of these abnormalities, and the association with perioperative neurological complications.

Three-dimensional (3D) printing produces virtual models. The potential for the practical application in the field of gynecology and obstetrics include three basic development fields: use of 3D standardized models for simulation and preoperative surgical planning of complex processes, education of scientists and informing the patients having had complications, and research in the tissue planning and bioprinting. 3D imaging and 3D printing technologies are the newest addition to fetal imaging. It is expected to change the way of fetal imaging in the most revolutionary way. The benefit of 3D printing is the fact that a reproduction of every selected mass can be fulfilled. It is considered as a new educational way that replaces the processes of a real incident confrontation with artificial models. 3D printing and physical models in the near future will facilitate the tactile and interactive study of complex anomalies in obstetrics and gynecology.

The present study analyzes video-recorded fetal ultrasound scans held in a moderate and high-risk pregnancy ward at a Brazilian public hospital. Informed by Multimodal Conversation Analysis (Mondada, 2018), it investigates the ethnomethods participants employ to manage worry-indicative concerns whose presentation is initiated by pregnant women in a medical exam that does not typically comprise a specific phase for that (Nishizaka, 2010, 2011b, 2014). The analysis shows that pregnant women orient to three environments to request worry-indicative information: (i) topic, (ii) image, (iii) phase transition, tailoring the design of their requests to each particular environment. The findings reveal that pregnant women are highly agentive in finding optimal opportunities to raise their concerns and to mobilize health professionals to respond to them. The physicians performing the scans respond to those requests while dealing with the contingencies inherent to the context of fetal ultrasounds and that have implications in attending to the requests. The results unveil the interplay between the pregnant women’s ethnomethods of raising concerns where ‘normality’ is constantly at stake and the health professionals’ ethnomethods in attending to those demands while orchestrating the distinct semiotic resources involved in the multiactivity setting of ultrasound scans. This study analyzes video-recorded fetal ultrasound scans held in a moderate and high-risk pregnancy ward at a Brazilian public hospital. Informed by Multimodal Conversation Analysis (Mondada, 2018), it investigates the ethnomethods participants employ to manage worry-indicative concerns whose presentation is initiated by pregnant women during a medical exam that does not typically comprise a specific phase for that (Nishizaka, 2010, 2011b, 2014). The analysis shows that pregnant women orient to three environments to request worry-indicative information: (i) topic, (ii) image, and (iii) phase transition, tailoring the design of their requests to each particular environment. Our findings reveal that, despite previous studies claiming otherwise, pregnant women are highly agentive in finding optimal opportunities to raise their concerns and to mobilize health professionals to respond to them. The physicians performing the scans respond to those requests while dealing with the contingencies inherent to the context of fetal ultrasounds which have implications for the provision of information. The analysis reveals the interplay between the pregnant women’s ethnomethods of raising concerns where ‘normality’ is constantly at stake and the health professionals’ ethnomethods in attending to those demands while orchestrating the distinct semiotic resources involved in the multiactivity setting of ultrasound scans. Keywords: Multimodal Conversation Analysis; Fetal ultrasound scans; Information requests; Doctor-Patient Interaction; Health Communication.

Fusion imaging (FI), the simultaneous display of the same anatomical region using two imaging modalities, has been used in other areas of medicine for both diagnosis and guiding interventions. Examples include positron emission tomography-computed tomography (PET-CT) imaging in oncology and ultrasound-magnetic resonance imaging (US-MRI) fusion in biopsies of the prostate gland. The underlying principle is to take advantage of the complementary information in each modality to improve accuracy, be it diagnostic accuracy or targeting accuracy in biopsies. For example, PET-CT overlays the metabolic activity of lesions on the superb spatial and anatomical detail of CT. While the historical mainstay of fetal imaging has been ultrasound, advances in ultrafast MR imaging together with advances in fetal MRI over the past two decades, have resulted in the opportunity to explore fusion imaging in fetal medicine. We present an overview of the principles of US-MRI fusion imaging in prenatal medicine, report our local experience, and review the literature in this emerging area. We share our perspective on how FI can improve diagnostic confidence, be used as an educational tool, and potentially enhance guidance in certain fetal procedures.

Context: India has a high perinatal mortality rate. The Indian Radiological and Imaging Association (IRIA) is supplementing efforts to address perinatal mortality in India through the Samrakshan program. Aims: To describe various elements of the Samrakshan program that aims to reduce perinatal mortality in India. Methods: Samrakshan focuses on two priority areas, preeclampsia (PE) and fetal growth restriction (FGR). Samrakshan aims at technical skill upgradation, specifically focused on improved interpretative ability, prognostic and therapeutic efficacy using Doppler studies, a free online learning platform and offline continuous medical educations (CMEs), building an evidence base from the program to develop policy and guidelines, and improving synergy with the RAKSHA program of IRIA and other fetal care stakeholders. Results: Two courses on Doppler studies focused on first trimester and third trimester, supplemented by case discussions and journal articles, have started on the online platform with 230 registrants. The first statewide CME was held at Indore. Samrakshan screening identified 10 (17.24%, 95% CI: 8.59, 29.43) women at high risk for preterm PE and 29 (50.00%, 95% CI 36.58, 63.42) women at high risk for FGR in the first trimester. Ten fetuses (7.63%, 95% CI: 3.72, 13.59) including 9 with stage 1 FGR were identified in the third-trimester screening. Conclusions: Samrakshan is a flagship program of IRIA that aims to reduce perinatal mortality in India through a synergistic, holistic approach that complements and supplements existing efforts in India.

Although CT is not the first choice for abdominal imaging of pregnant patients, it can be indicated for pregnant patients with emergent life-threatening conditions. It is prudent in these cases for the radiologist to be familiar with the normal appearance of the pregnant uterus on CT and to evaluate the female pelvis for potential maternal and fetal abnormalities. We aim to provide examples of the normal CT appearance of the female pelvis related to different gestational ages and to demonstrate variant and abnormal conditions of pregnancy which may be identified by CT.

3D printing (3DP) applications for clinical evaluation, preoperative planning, patient and trainee education, and simulation has increased in the past decade. Most of the applications are found in cardiovascular, head and neck, orthopedic, neurological, urological, and oncological surgical cases. This review has three parts. The first part discusses the technical pathway to realizing a physical model, 3DP considerations in pediatric MRI image acquisition, data and resolution requirements, and related structural segmentation and postprocessing steps needed to generalize both virtual and physical models. Standard practices and processing software used in these processes will be assessed. The second part discusses complementary examples in pediatric applications, including cases from cardiology, neuroradiology, neurology, and neurosurgery, head and neck, orthopedics, pelvic and urological applications, oncological applications, and fetal imaging. The third part explores other 3D printing applications and considerations such as using 3DP to develop tissue-specific phantoms and devices for testing in the MR environment, to educate patients and their families, to train clinicians and students, and facility requirements for building a 3DP program. Level of Evidence: 5 Technical Efficacy: Stage 5 J. Magn. Reson. Imaging 2020;51:1641-1658.

Fetal congenital anomalies are among the leading causes of perinatal death or survival with disability worldwide. Their accurate antenatal detection employing a range of fetal imaging techniques enables parental choices to be made and for postnatal care of affected babies to be planned. While such prenatal care is well developed in developed countries of the world, it remains poor in many low‑ and middle‑income countries (LMICs). This review article examines the scope of the problem and proffers strategies for service organization and fetal imaging that will improve care in LMIC settings.Key words: Congenital abnormalities; fetus; imaging; pregnancy; ultrasound.

Introduction: Clinical evaluation of deep learning (DL) tools is essential to compliment technical accuracy metrics. This study assessed the image quality of standard fetal head planes automatically-extracted from three-dimensional (3D) ultrasound fetal head volumes using a customised DL-algorithm. Methods: Two observers retrospectively reviewed standard fetal head planes against pre-defined image quality criteria. Forty-eight images (29 transventricular, 19 transcerebellar) were selected from 91 transabdominal fetal scans (mean gestational age = 26 completed weeks, range = 20 +5–32 +3 weeks). Each had two-dimensional (2D) manually-acquired (2D-MA), 3D operator-selected (3D-OS) and 3D-DL automatically-acquired (3D-DL) images. The proportion of adequate images from each plane and modality, and the number of inadequate images per plane was compared for each method. Inter and intra-observer agreement of overall image quality was calculated. Results: Sixty-seven percent of 3D-OS and 3D-DL transventricular planes were adequate quality. Forty-five percent of 3D-OS and 55% of 3D-DL transcerebellar planes were adequate. Seventy-one percent of 3D-OS and 86% of 3D-DL transventricular planes failed with poor visualisation of intra-cranial structures. Eighty-six percent of 3D-OS and 80% of 3D-DL transcerebellar planes failed due to inadequate visualisation of cerebellar hemispheres. Image quality was significantly different between 2D and 3D, however, no significant difference between 3D-modalities was demonstrated (p < 0.005). Inter-observer agreement of transventricular plane adequacy was moderate for both 3D-modalities, and weak for transcerebellar planes. Conclusion: The 3D-DL algorithm can automatically extract standard fetal head planes from 3D-head volumes of comparable quality to operator-selected planes. Image quality in 3D is inferior to corresponding 2D planes, likely due to limitations with 3D-technology and acquisition technique. Implications for practice: Automated image extraction of standard planes from US-volumes could facilitate use of 3DUS in clinical practice, however image quality is dependent on the volume acquisition technique.

We describe the case of a female infant born of a term pregnancy (38 weeks) with regular surveillance and course, despite the mother having class III obesity and gestational diabetes controlled with insulin. During pregnancy, the mother had three fetal ultrasounds, all with normal morphology and

Preterm birth (PTB) (

Sacrococcygeal teratoma (SCT) is the most common fetal and neonatal tumor. While SCT is often associated with urological problems, the association between SCT and a urogenital sinus (UGS) anomaly is rare. A concurrent UGS anomaly may be an acquired condition due to resection of SCT because it is rarely found at birth. In our case in whom fetal imaging study showed an abdominal cystic lesion, SCT with a UGS anomaly was suspected at birth and confirmed by endoscopy before resection of SCT during the neonatal period. These findings revealed that UGS anomaly may develop congenitally.

We present a case of hypochondrogenesis, a rare autosomal dominant skeletal dysplasia that often results in infant death shortly after birth. Hypochondrogenesis can present similarly to other skeletal dysplasia diseases, notably achondrogenesis type II. The diagnosis of hypochondrogenesis was given during the prenatal stage after fetal imaging was performed using ultrasound, magnetic resonance imaging (MRI), and low-dose computerized tomography (CT). To the best of our knowledge, this is the first known case that reported the use of low-dose CT to assist in the prenatal diagnosis of hypochondrogenesis.

Summary This Review depicts the evolving role of MRI in the diagnosis and prognostication of anomalies of the fetal body, here including head and neck, thorax, abdomen and spine. A review of the current literature on the latest developments in antenatal imaging for diagnosis and prognostication of congenital anomalies is coupled with illustrative cases in true radiological planes with viewable three-dimensional video models that show the potential of post-acquisition reconstruction protocols. We discuss the benefits and limitations of fetal MRI, from anomaly detection, to classification and prognostication, and defines the role of imaging in the decision to proceed to fetal intervention, across the breadth of included conditions. We also consider the current capabilities of ultrasound and explore how MRI and ultrasound can complement each other in the future of fetal imaging.

Teaching Point: Postmortem magnetic resonance imaging can replace conventional autopsy and help diagnosis in combination with other postmortem investigations (e.g. microscopic examination of the placenta, genetic testing, etc.) under the umbrella of minimal invasive autopsy. ispartof: JOURNAL OF THE BELGIAN SOCIETY OF RADIOLOGY vol:104 issue:1 ispartof: location:England status: published

BACKGROUND/PURPOSE: The differential diagnosis for prenatal suprarenal masses (SRM) is broad and includes neuroblastoma, adrenal hemorrhage and subdiaphragmatic extralobar pulmonary sequestration (SEPS). We sought to elucidate the appropriate postnatal management for fetuses found to have a SRM. METHODS: We conducted a retrospective review of patients prenatally diagnosed with SRM at our institution between 1998 and 2018. Prenatal characteristics, imaging, and neonatal outcomes were collected. We also performed a PubMed literature search and pooled analysis of all patients with a prenatally diagnosed SRM previously described in the literature. RESULTS: The literature review yielded 32 studies, of which 19 were single case reports. In our case series, twelve patients were included. Seven patients were delivered vaginally, one was terminated. Postnatal diagnoses included: SEPS (n=5), adrenal hemorrhage (n=3), polycystic kidney (n=2), splenic cyst (n=1), and unknown for one patient. All but two of the final diagnoses had been on the initial diagnostic differential. With the exception of the terminated fetus, all remain alive today. On pooled analysis, patients who underwent operative management were diagnosed later 32 weeks versus 24 weeks) and had a significant predominance of left-sided lesions (59.5% vs. 39.2%). The published literature demonstrates a trend towards observation versus resection over the past 30 years. CONCLUSIONS: Patients prenatally diagnosed with a SRM have an excellent prognosis. Our series demonstrates a high incidence of SEPS, which were all resected, and adrenal hemorrhage, which were observed with repeat imaging. These patients can be followed with serial postnatal ultrasounds to determine the diagnosis prior to deciding the appropriate treatment.

With advances in fetal imaging, prenatal diagnosis of posterior fossa anomalies has been greatly improved. Based on the anatomical approach proposed by Guibaud and Desportes in 2006, the main anomalies depicted according to the algorithm includes: (1) increased "fluid-filled" space of the posterior fossa, (2) abnormal biometry of the cerebellum, and (3) abnormal cerebellar anatomy. In this review, the spectrum of PF anomalies is covered in an attempt to update this approach in the light of both our experience, more than a decade since this algorithm was published, and the latest data in the literature.

Background Duodenal obstruction (DO) is associated with congenital cardiac anomalies that may complicate the delivery of anesthesia during surgical repair. As most infants undergo fetal ultrasounds that identify cardiac anomalies, our aim was to determine the utility of obtaining preoperative neonatal echocardiograms in all DO patients. Methods We conducted a retrospective cohort study of all DO patients treated at two tertiary care children's hospitals between January 2005 and February 2016. Prenatal ultrasounds were compared to neonatal echocardiograms to determine concordance. Binomial exact analyses were used to estimate the negative predictive value (NPV) of prenatal imaging. Results We identified 65 infants with DO. The majority of patients (93.8%) had prenatal ultrasounds, including twenty patients that underwent fetal echocardiogram. Fourteen (21.5%) were diagnosed with cardiac lesions in utero, and neonatal echocardiograms confirmed 12 lesions, without identifying any new lesions. No changes to anesthetic management were made because of cardiac lesions. The NPV of prenatal imaging was 100% (95% Confidence Interval: 91.0–100.0). Conclusions Neonatal echocardiogram is unlikely to identify new cardiac lesions in DO patients with negative fetal imaging and delays in surgical care are unwarranted. Levels of evidence Study of Diagnostic Test-Level II.

The purpose of this study is to establish normal total fetal lung volume reference ranges from 18 to 38 weeks' gestation at 1-week intervals.A retrospective analysis of 665 patients who underwent fetal MRI at two tertiary fetal centers from 2001 to 2013 was performed. Total fetal lung volume was measured in at least two planes, either manually or using a 3D workstation. The mean, median, SD, minimum, maximum, and lower and upper quartiles for total fetal lung volume were determined per gestational week. A t test was used to compare our values to previously reported values. A new formula to calculate total fetal lung volume derived from our data was created using a regression model. Comparisons between total fetal lung volume obtained by different imaging planes and manual versus semiautomatic calculation were also performed.The mean normal total fetal lung volume showed a weekly increase from 18 through 35 weeks' gestation. Means were compared with the expected total fetal lung volume generated by the Rypens formula, showing statistically significant lower mean total fetal lung volume from week 19 to week 22 (p0.05). Comparison between our data-derived total fetal lung volume formula and the Rypens formula showed very similar values at every gestational age. No difference in total fetal lung volume was seen when comparing imaging planes or manual versus semiautomatic methods.Measured mean total fetal lung volume values at 19-22 weeks are significantly lower than those predicted by the Rypens formula. Therefore, we propose preferential use of our values for prenatal counseling and delivery planning.

Postmortem magnetic resonance imaging (MRI) is emerging as a valuable tool to accompany traditional autopsy and has potential for use in cases when traditional autopsy is not possible. This case report will review the use of postmortem MRI with limited tissue sampling to differentiate between metastatic neuroblastoma and hepatoblastoma which could not be clearly differentiated with prenatal ultrasound, prenatal MRI, or emergent postnatal ultrasound. The mother presented to our institution at 27 weeks gestation after an obstetric ultrasound at her obstetrician's office identified a large abdominal mass. Fetal ultrasonography and MRI confirmed the mass but were unable to differentiate between neuroblastoma and multifocal hepatoblastoma. The baby was delivered by cesarean section after nonreassuring heart tones led to an emergent cesarean section. The baby underwent decompressive laparotomy to relieve an abdominal compartment syndrome; however, the family eventually decided to withdraw life support. At this time, we performed a whole body postmortem MRI which further characterized the mass as an adrenal neuroblastoma which was confirmed with limited tissue sampling. Postmortem MRI was especially helpful in this case, as the patient’s family declined traditional autopsy.

Background Posterior fossa malformations are among the most diagnosed central nervous system (CNS) anomalies detected by ultrasound (US) in prenatal age. We identified the pathogenic gene mutation in a male fetus of 17 weeks of gestation with US suspicion of familial Dandy–Walker spectrum malformation, using Next Generation Sequencing approach in prenatal diagnosis. Methods Whole exome sequencing (WES) approach has been performed on fetal genomic DNA. After reads preprocessing, mapping, variant calling, and annotation, a filtering strategy based on allelic frequency, recessive inheritance, and phenotypic ontologies has been applied. A fetal magnetic resonance imaging (MRI) at 18 weeks of gestation has been performed. An in silico analysis of a potential causative missense variant in the fukutin protein has been carried out through a structural modeling approach. Results We identified a new homozygous missense mutation in fukutin gene (FKTN, NM_006731.2: c.898G>A; NP_006722.2: p.Gly300Arg). Fetal MRI supported molecular findings. Structural modeling analyses indicated a potential pathogenetic mechanism of the variant, through a reduced activation of the sugar moieties, which in turn impairs transfer to dystroglycan and thus its glycosylation. These findings pointed to a redefinition of the US suspicion of recurrence of Dandy–Walker malformation (DWM) to a muscular dystrophy‐dystroglycanopathy type A4. Conclusions The present case confirmed WES as a reliable tool for the prenatal identification of the molecular bases of early‐detected CNS malformations., Prenatal diagnosis of central nervous system (CNS) anomalies following standard diagnostic procedures is challenging. Posterior fossa malformations are among the most diagnosed CNS anomalies detected by ultrasound in prenatal age. Whole exome sequencing (WES) approach on fetal genomic DNA and structural in silico analysis helped redefine a prenatal clinical suspicious of Dandy–Walker malformation to muscular dystrophy dystroglycanopathy Type A through the identification of a new fukutin homozygous missense mutation (NM_006731: c.898G>A; NP_006722.2: p.Gly300Arg). Prenatal diagnosis in cases of nonspecific or early‐detected CNS phenotypes can be lengthy and difficult. Multidisciplinary diagnostic approach combining instrumental (high‐quality fetal magnetic resonance imaging) and molecular analyses (WES) in fetuses with CNS structural anomalies could be a reliable approach.

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PurposeTo develop an MRI acquisition and reconstruction framework for volumetric cine visualization of the fetal heart and great vessels in the presence of maternal and fetal motion.MethodsFour‐dimensional (4D) depiction was achieved using a highly‐accelerated multi‐planar real‐time balanced steady‐state free precession acquisition combined with retrospective image‐domain techniques for motion correction, cardiac synchronization and outlier rejection. The framework was validated using a numerical phantom and evaluated in a study of 20 mid‐ to late‐gestational age human fetal subjects (23‐33 weeks gestational age). Reconstructed MR data were compared with matched ultrasound. A preliminary assessment of flow‐sensitive reconstruction using the velocity information encoded in the phase of real‐time images is included.ResultsReconstructed 4D data could be visualized in any two‐dimensional plane without the need for highly specific scan plane prescription prior to acquisition or for maternal breath hold to minimize motion. Reconstruction was fully automated aside from user‐specified masks of the fetal heart and chest. The framework proved robust when applied to fetal data and simulations confirmed that spatial and temporal features could be reliably recovered. Evaluation suggested the reconstructed framework has the potential to be used for comprehensive assessment of the fetal heart, either as an adjunct to ultrasound or in combination with other MRI techniques.ConclusionsThe proposed methods show promise as a framework for motion‐compensated 4D assessment of the fetal heart and great vessels.

PURPOSE: We aimed to compare the placental diffusion difference between intrauterine growth restriction (IUGR) patients with worsening Doppler ultrasonography (US) findings and control group with normal Doppler US findings by using diffusion-weighted imaging (DWI). METHODS: We performed a prospective study to compare the placental diffusion difference in 63 patients (gestational week, 28–34 weeks), including 50 IUGR patients (mean gestational week, 30 weeks 3 days ±16.2 days) with worsening Doppler US findings and 13 patients with normal Doppler US findings (mean gestational week, 29 weeks 4 days ±12.3 days) by using DWI (b value, 0–1000 s/mm(2)). We classified IUGR patients into three groups according to the reference values of the umbilical artery pulsatility index (PI) chart. Placenta apparent diffusion coefficient (ADC) calculations were performed by freehand drawn regions-of-interest (ROIs) (min, 8.04 cm(2); max, 200 cm(2)). RESULTS: Placental ADC values in IUGR patients (mean, 1.624±0.181 ×10(− 3) mm(2)/s; range, 1.35–1.96 ×10(−3) mm(2)/s) were significantly reduced compared with the control group (mean, 1.827±0.191 ×10(− 3) mm(2)/s; range, 1.35–2.84 ×10(−3) mm(2)/s) (P = 0.001). For adjusted ROI area calculation, ADC values were significantly lower in groups 3, 2 and 1, respectively, compared with the control group (P < 0.05); and there was no significant difference between groups 1 and 2 (P > 0.05). Preeclampsia significantly reduced the placental diffusion compared with patients without preeclampsia (P = 0.003). Gestational aging did not significantly affect ADC values in control patients (r=0.08, P = 0.561). The sensitivity, specificity, negative and positive predictive values of ADC to detect IUGR were 72%, 84.6%, 44%, and 94.7% with a cutoff value of 1.727 ×10(−3) mm(2)/s, respectively. CONCLUSION: The diagnostic estimation of placental ADC values to predict the severity of IUGR is comparable to that of umbilical artery PI. Considering that at the very early onset of IUGR, placental diffusion diminishes, ADC as a marker for IUGR in lieu of umbilical artery PI has the potential to determine the threshold for decreased placental diffusion. Therefore, DWI should be added to routine fetal MRI to show diffusion changes in placenta.

The development of robotic-assisted extracorporeal ultrasound systems has a long history and a number of projects have been proposed since the 1990s focusing on different technical aspects. These aim to resolve the deficiencies of on-site manual manipulation of hand-held ultrasound probes. This paper presents the recent ongoing developments of a series of bespoke robotic systems, including both single-arm and dual-arm versions, for a project known as intelligent Fetal Imaging and Diagnosis (iFIND). After a brief review of the development history of the extracorporeal ultrasound robotic system used for fetal and abdominal examinations, the specific aim of the iFIND robots, the design evolution, the implementation details of each version, and the initial clinical feedback of the iFIND robot series are presented. Based on the preliminary testing of these newly-proposed robots on 42 volunteers, the successful and reliable working of the mechatronic systems were validated. Analysis of a participant questionnaire indicates a comfortable scanning experience for the volunteers and a good acceptance rate to being scanned by the robots.

Background Neonatal intracranial pial arteriovenous fistulas (AVFs) are rare vascular malformations. The pathophysiology of hydrocephalus in cases of pial AVF remains to be fully understood. Here, authors report a case of pial AVF with a large venous varix, which rapidly expanded after cerebrospinal fluid (CSF) diversion. Case description A female neonate was born at full term following a normal pregnancy and delivery. A supracerebellar pial AVF with a large venous varix and the hydrocephalus due to complex mechanism were found on fetal imaging. She had no neurological deficits, but her head circumference was slightly larger than normal. The hydrocephalus was treated via CSF diversion, but this was followed by a remarkable expansion of the venous varix. Transarterial embolization of the AVF was subsequently performed, which resulted observable improvement of the hydrocephalus. Conclusion Hydrocephalus complicating pial AVFs with a venous varix should not be treated by CSF diversion first. Instead, the initial step in the treatment should be obliteration of the AVFs. This restores the hydrodynamic balance between the CSF and intracranial venous system, resulting in the gradual improvement of the hydrocephalus.

CHARGE syndrome is a rare autosomal dominant disorder, associated with coloboma (C), heart defects (H), choanal atresia (A), retardation of growth and/or central nervous system (R), genitourinary anomalies (G) and ear abnormalities (E). Prenatal diagnosis of the syndrome is very rare but may be suspected when a combination of such abnormalities is identified. We describe a prenatally suspected case of CHARGE syndrome due to unique findings of cardiac defects (DORV) in combination with minor clues, including a structurally malformed ear with persistent non-response to an acoustic stimulation (which has never been prenatally described elsewhere), renal malrotation and growth restriction. Postnatal diagnosis was made based on confirmation of the prenatal findings and additional specific findings of bilateral coloboma, choanal atresia and ear canal stenosis. Finally, molecular genetic testing by whole exome sequencing of the neonate and her parents revealed a novel de novo heterozygous frameshift c.3506_3509dup variant in the CHD7 gene, confirming the clinical diagnosis of CHARGE syndrome. In conclusion, we describe unique prenatal features of CHARGE syndrome. Educationally, this is one of the rare examples of CHARGE syndrome, comprising all of the six specific anomalies as originally described; it is also supported by the identification of a specific genetic mutation. The identified genetic variant has never been previously reported, thereby expanding the mutational spectrum of CHD7. Finally, this case can inspire prenatal sonographers to increase awareness of subtle or minor abnormalities as genetic sonomarkers.

During the past two decades the use and refinements of imaging modalities have markedly increased making it possible to image embryos and fetuses used in pivotal nonclinical studies submitted to regulatory agencies. Implementing these technologies into the Good Laboratory Practice environment requires rigorous testing, validation, and documentation to ensure the reproducibility of data. A workshop on current practices and regulatory requirements was held with the goal of defining minimal criteria for the proper implementation of these technologies and subsequent submission to regulatory agencies. Micro-computed tomography (micro-CT) is especially well suited for high-throughput evaluations, and is gaining popularity to evaluate fetal skeletons to assess the potential developmental toxicity of test agents. This workshop was convened to help scientists in the developmental toxicology field understand and apply micro-CT technology to nonclinical toxicology studies and facilitate the regulatory acceptance of imaging data. Presentations and workshop discussions covered: (1) principles of micro-CT fetal imaging; (2) concordance of findings with conventional skeletal evaluations; and (3) regulatory requirements for validating the system. Establishing these requirements for micro-CT examination can provide a path forward for laboratories considering implementing this technology and provide regulatory agencies with a basis to consider the acceptability of data generated via this technology.

Three-dimensional ultrasonography (3-D US) was introduced to the field of fetal imaging in the early 1990s. Since then several publications have described potential applications for the diagnosis of congenital malformations as well as organ volumetry. This article reviews basic principles of 3-D US as well as its clinical applicability to prenatal diagnosis of abnormalities involving the face, spine and skeletal system, as well as potential applications of 3-D US for fetal cardiovascular and neuroimaging. Limitations related to motion artifacts, acoustic shadowing and barriers to clinical implementation of 3-D US in clinical practice are addressed.

Fetal MRI at 3 T is emerging as a promising modality for evaluating fetal anatomy. The objective of this study was to compare the quality of images obtained with commonly used fetal imaging sequences at 1.5 T and 3 T. We hypothesized that the visualization and anatomic detail of fetal structures would be better at 3 T than at 1.5 T.A retrospective search of the radiology department database at our institution identified 58 fetal MRI examinations performed at 3 T to evaluate body abnormalities during the period from July 2012 to February 2014. A blind comparison was conducted between these examinations and 58 1.5-T MRI examinations of age-matched fetuses undergoing evaluation for similar abnormalities during the same period. The anatomic structures analyzed included the bowel, liver, kidney, airway, cartilage, and spine. Scores for the depiction of anatomic structures ranged from 0 to 4, with 4 denoting the best depiction.Fetal imaging at 3 T was associated with higher imaging scores in the evaluation of the cartilage and spine when single-shot turbo spin-echo (SSTSE) and steady-state free precession (SSFP) sequences were used and in the assessment of most structures (e.g., bowel, liver, kidney, cartilage, and spine) when SSFP sequences were used. The mean scores for all structures evaluated with the use of SSTSE sequences were higher when MRI was performed at 3 T than at 1.5 T; similar findings were noted when SSFP sequences were used. Evaluation of imaging scores with regard to gestational age showed that scores improved with increasing gestational age on 1.5-T MRI but not on 3-T MRI. Overall, more imaging artifacts were found when imaging was performed at 3 T than at 1.5 T.An overall advantage to performing fetal imaging at 3 T was made evident by the higher imaging scores obtained with 3-T MRI versus 1.5-T MRI when different fetal anatomic structures were evaluated. These higher scores were predominantly associated with use of SSFP sequences. The findings of this study and future advancements in MRI software and 3-T protocols may allow optimal visualization and examination of fetal pathologic abnormalities, thus better identifying fetal and maternal needs both prenatally and postnatally.

A 27-year-old primigravida at 19 weeks of gestation with suspected hydrops fetalis. There were characteristic ultrasonographic features like hyper inflated and enlarged lungs, flattened diaphragm, small centrally displaced heart, and hydrops suggestive of CHAOS. Congenital high airway obstruction syndrome is a rare fetal anomaly causing nonimmune hydrops. Prenatal ultrasound features are characteristic. Meticulous system wise fetal imaging in the presence of hydrops would help in early diagnosis of the condition, helping in appropriate management of pregnancy. How to cite this article Mundkur A, Nayak SS, Vasudeva A, Katta GM, Kumar P. Congenital High Airway Obstruction Syndrome presenting as Nonimmune Hydrops in a 19-week Fetus. Int J Infertil Fetal Med 2016;7(3):99-102.

Zusammenfassung Diese Übersichtsarbeit behandelt die Mikrozephalie (MZ) aus der Perspektive der pränatalen Diagnostik. Eine MZ wird bei einem Kopfumfang unter der dritten Standardabweichung für das Gestationsalter vermutet. Diese Verdachtsdiagnose kann aus einem falschen Gestationsalter oder einer falsche Messung resultieren oder infolge einer Reihe häufiger Ätiologien wie offene Spina bifida, Enzephalozele, Holoprosenzephalie, Infektion, Aneuploidie, seltener auch Ursachen wie einer primären oder syndromalen MZ entstehen. Typische Ultraschallzeichen einer fetalen MZ sind die flache Stirn, der kleine Frontallappen, das reduzierte Gyrierungsmuster mit einem kurzen Balken, eine Pseudo-Kraniosynostose, ein dilatierter Subarachnoidalraum und oft eine Diskrepanz zwischen Kopf- und Bauchumfang. Mitunter kann eine schwere MZ schon in der Mitte der Schwangerschaft entdeckt werden, aber die meisten Formen fallen erst im III. Trimenon bzw. nach der Geburt auf. Die diagnostische Abklärung sollte auch das Angebot genetischer Untersuchungen einschließen, um monogen vererbte Formen mit hohem Wiederholungsrisiko z. B. bei autosomal-rezessiver Vererbung zu identifizieren. Die Arbeit diskutiert pränatalmedizinische und genetisch-diagnostische Abklärungsschritte bei fetaler MZ, die in Kombination mit den neuen genetischen Untersuchungstechniken hoffentlich in Zukunft zu einer höheren Aufklärungsrate führen werden.

Background: Fetal biometry, with the help of ultrasonography (USG) provides the most reliable and important information about fetal growth and well-being. Frequently used parameters for fetal measurements by this method are the biparietal diameter (BPD), head circumference (HC), abdominal circumference (AC), and femur length (FL). These fetal dimensions depend upon the racial demographic characteristics, nutrition, genetics and many more environmental factors of a particular population. Aims: The purpose of the present investigation was to define and analyze these fetal biometric parameters in our local population and to compare them with the given norms. Methods: This cross-sectional study with convenience sampling was conducted on a total of 425 fetuses with a period of gestation between 18 to 38 weeks. Descriptive statistics was used to calculate the mean with standard deviation and 95% confidence interval (CI) for each fetal parameter in each gestational week. Results: Mean of BPD and FL in our population are similar to the mean values given by Hadlock throughout the pregnancy, except near the end of the third trimester where our population shows a slightly lower range of mean values. HC and AC fall below the lower range of Hadlock as early as 24 weeks of pregnancy. Conclusions: Fetal biometric parameters in the studied population are at the lower range of established nomograms by Hadlock on white fetuses, more so with the progression of pregnancy.

Improved fetal imaging has resulted in increased diagnosis of isolated absent septum pellucidum without other intracranial abnormalities. There is little literature regarding outcomes for these fetuses. This study hypothesized the majority of infants diagnosed by fetal magnetic resonance imaging (MRI) with isolated absent septum pellucidum would retain this diagnosis postnatally. Specifically, in the absence of postnatal endocrine or ophthalmologic abnormalities, postnatal imaging would find no additional related findings, and fetuses would be at low risk for developmental delay. Two of 8 subjects met postnatal criteria for septo-optic dysplasia; remaining subjects had normal postnatal endocrine and ophthalmologic evaluations and no significant related findings on postnatal MRI. One subject without septo-optic dysplasia had delays on developmental screening; all others had normal screening (range of follow-up 8-72 months). Our study questions the necessity of postnatal imaging for prenatally diagnosed isolated absent septum pellucidum. Majority of fetuses with isolated absent septum pellucidum retained this diagnosis postnatally.

In general, ultrasonography and magnetic resonance imaging (MRI) are not associated with maternal or fetal risks and are the imaging techniques of choice for the pregnant patient. Ultrasound is the mainstay of obstetric imaging because it is safe and easily performed. However, MRI is becoming more useful as an adjunct in cases of questionable ultrasound findings or if additional information is needed to plan patient care. MRI lacks the potential risks of ionizing radiation associated with other forms of imaging and, when needed, gadolinium can be used (however, use remains uncommon in current practice). For maternal evaluation in patients with neuromuscular disorders MRI is ideal for imaging. Nevertheless, any imaging (either maternal or fetal) should be used only when needed. Furthermore, if other imaging modalities (CT, MRI with contrast, etc.) are better for assessing the mother’s or fetus’s condition and the information will influence the pregnancy care, these should be utilized.

The purpose of this article is to discuss advances in imaging and diagnosis of skeletal dysplasias.Skeletal dysplasias are a heterogeneous group of disorders affecting bone and cartilage and characterized by abnormal shape, growth, and integrity of the skeleton. These disorders may be inherited in a multitude of genetic patterns-autosomal dominant, autosomal recessive, somatic mosaic, imprinting errors of metabolism, X-linked, and teratogenic exposure. Most are monogenic diseases. The prenatal diagnosis is challenging; the findings are first seen during routine ultrasound.

Background. Fetal intracranial injury is a potentially devastating sequelae of maternal trauma, but there is little guidance regarding fetal evaluation in this setting. Case. A 23-year-old woman at 27-week gestation was admitted after a high-speed motor vehicle accident. The initial obstetrical ultrasound was unremarkable, but persistently minimal fetal heart rate variability was observed. Ultrasound on day 3 after the accident showed an intracranial hyperechogenic lesion and subdural fluid collection. The neonate, following an uneventful birth at 39 weeks, had seizures and abnormal muscle tone. MRI was consistent with in utero intracranial hemorrhage. Conclusion. Serial fetal imaging following maternal trauma, particularly when accompanied by abnormal fetal heart rate tracings, should be considered when fetal injury is a concern, even in the setting of a normal initial ultrasound.

The automatic analysis of ultrasound sequences can substantially improve the efficiency of clinical diagnosis. In this work we present our attempt to automate the challenging task of measuring the vascular diameter of the fetal abdominal aorta from ultrasound images. We propose a neural network architecture consisting of three blocks: a convolutional layer for the extraction of imaging features, a Convolution Gated Recurrent Unit (C-GRU) for enforcing the temporal coherence across video frames and exploiting the temporal redundancy of a signal, and a regularized loss function, called \textit{CyclicLoss}, to impose our prior knowledge about the periodicity of the observed signal. We present experimental evidence suggesting that the proposed architecture can reach an accuracy substantially superior to previously proposed methods, providing an average reduction of the mean squared error from $0.31 mm^2$ (state-of-art) to $0.09 mm^2$, and a relative error reduction from $8.1\%$ to $5.3\%$. The mean execution speed of the proposed approach of 289 frames per second makes it suitable for real time clinical use., Comment: 10 pages, 2 figures

Advances in image-scanning technology have led to vast improvements in medicine, especially in the diagnosis of fetal anomalies. In general, two main technologies are used to obtain images within the uterus during pregnancy – three-dimensional ultrasound (3DUS) and magnetic resonance imaging (MRI). Ultrasound (US) examination is the primary method of fetal assessment because it is patient-friendly, effective, cost-efficient and considered to be safe. MRI is generally used when US cannot provide sufficiently high-quality images. It offers high-resolution fetal imaging with excellent contrast that allows visualization of internal tissues. Additive manufacturing (AM) is the automatic, layer by-layer construction of physical models using solid free-form fabrication. The first AM techniques were used in the late 1980s to produce models and prototypes. The use of AM in the biomedical sector has increased steadily over the past decade. Different uses have been reported widely in the medical literature, but little has been published on its application to the gravid uterus, so we applied AM technology to fetal images obtained by 3DUS and MRI. Fetoscopy is a technique that utilizes a small camera to examine and perform procedures on the fetus. The term ‘virtual fetoscopy’ describes the creation and evaluation of representations of the fetus and surrounding structures using spatial information derived from imaging sources other than the fetoscope itself. We believe that virtual and physical models can help in the tactile and interactive study of complex abnormalities in multiple disciplines. They may also be useful for prospective parents because a 3D physical model with the characteristics of the fetus should allow a more direct emotional connection to their unborn child. The key concern of this talk will show how to obtain high-quality 3D images from US and MRI and the use of AM and virtual navigation.

To determine the performance of third trimester ultrasound in women with suspected fetal macrosomia.We performed a retrospective cohort study of fetal ultrasounds from January 2004 to December 2014 with estimated fetal weight (EFW) between 4000 and 5000 g. We determined accuracy of birth weight prediction for ultrasound performed at less than and greater than 38 weeks, accounting for diabetic status and time between ultrasound and delivery.There were 405 ultrasounds evaluated. One hundred and twelve (27.7%) were performed at less than 38 weeks, 293 (72.3%) at greater than 38 weeks, and 91 (22.5%) were performed in diabetics. Sonographic identification of EFW over 4000 g at less than 38 weeks was associated with higher correlation between EFW and birth weight than ultrasound performed after 38 weeks (71.5 versus 259.4 g, p .024). EFW to birth weight correlation was within 1.7% of birth weight for ultrasound performed less than 38 weeks and within 6.5% of birth weight for ultrasound performed at greater than 38 weeks.Identification of EFW with ultrasound performed less than 38 weeks has greater reliability of predicting fetal macrosomia at birth than measurements performed later in gestation. EFW to birth weight correlation was more accurate than previous reports.