Case report of fetus with Lowe syndrome: Expanding the prenatal phenotype.

Oculocerebrorenal syndrome (Lowe syndrome) is a rare X-linked disorder affecting 1/500,000 males that most frequently affects the eyes, central nervous system, and kidneys. Phenotypic presentation includes congenital cataracts, developmental delay, intellectual disability, and Fanconi-type renal dysfunction. Lowe Syndrome is caused by hemizygous loss of function variants in the OCRL gene. While individuals may live into the third and fourth decade of life, some will die in the first few years of either renal failure or infection. While early diagnosis is important, few cases have documented the prenatal phenotype of this condition, which has included bilateral cataracts and variable neurological abnormalities. We report a case of a family with an extensive history of congenital cataracts, immune compromise, and neonatal death in male members. The fetus was found to have a unilateral cataract, mild ventriculomegaly, vertebral anomalies, and an underlying diagnosis of Lowe Syndrome with a mutation in OCRL at c.2582-1G>C (IVS23-1G>C).

Magnetic resonance imaging of fetal abdominal pathology: a complementary tool to prenatal ultrasound.

Fetal magnetic resonance imaging (MRI) is increasingly being used worldwide as a complementary tool to prenatal ultrasound (US) for multiple fetal pathologies. The aim of this article is to describe and illustrate how MRI can help US to evaluate fetal abdominal anomalies, based on cases performed in a tertiary public university hospital. Prenatal US, fetal MRI and postnatal imaging of these cases will be shown side-by-side to describe and illustrate the added value of fetal MRI in the different organs/systems and its impact on clinical management.

Effects of 1.5-T versus 3-T magnetic resonance imaging in fetuses: is there a difference in postnatal neurodevelopmental outcome? Evaluation in a fetal population with left-sided congenital diaphragmatic hernia.

BACKGROUND: The utilization of 3-T magnetic field strength in obstetric imaging is increasingly common. It is important to ensure that magnetic resonance (MR) imaging with higher magnetic field strength is safe for the fetus. Comparison of neurodevelopmental outcome in neonates undergoing prenatal MR imaging with 1.5-T versus 3-T is of interest but has not yet been examined. OBJECTIVE: We hypothesized no clinically meaningful difference in neurodevelopmental outcome between fetuses undergoing 1.5-T versus 3-T fetal MR imaging. As imaging a normal fetus for research purposes is illegal in Pennsylvania, this study was conducted in a population of fetuses with left congenital diaphragmatic hernia (left-CDH). MATERIALS AND METHODS: A retrospective review of neurodevelopmental outcome of fetuses with left-CDH scanned at 1.5-T (n=75) versus 3-T (n=25) magnetic field strength between July of 2012 and December of 2019 was performed. Neurodevelopmental outcomes were assessed using the Bayley Scales of Infant Development, 3rd Edition (BSID-III). RESULTS: There were no statistical differences in median age of assessment (1.5-T: 18 [12, 25] versus 3-T: 21 [11, 26], P=0.79), in mean BSID-III cognitive (1.5-T: 91 ± 14 versus 3-T: 90 ± 16, P=0.82), language (1.5-T: 92 ± 20 versus 3-T: 91 ± 20, P=0.91), and motor composite (1.5-T: 89 ± 15 versus 3-T: 87 ± 18, P=0.59) scores, subscales scores (for all, P>0.50), or in risk of abnormal neuromuscular exam (P=0.29) between neonates with left-CDH undergoing a 1.5-T versus 3-T MR imaging during fetal life. Additionally, the distribution of patients with average, mildly delayed, and severely delayed BSID-III scores was similar between the two groups (for all, P>0.50). The overall distribution of the composite scores in this CDH population was similar to the general population independent of exposure to 1.5-T or 3-T fetal MR imaging. Two 3-T patients (8%) and five 1.5-T patients (7%) scored within the significant delayed range for all BSID-III domains. Subjects with lower observed-to-expected fetal lung volume (O/E FLV) and postnatal need for ECMO had lower cognitive, language, motor, and subscales scores (for all, P<0.03) regardless of being imaged at 1.5-T versus 3-T. CONCLUSION: This preliminary study suggests that, compared to 1.5-T MR imaging, fetal exposure to 3-T MR imaging does not increase the risk of neurodevelopmental impairment in fetuses with left-CDH. Additional MR imaging studies in larger CDH cohorts and other fetal populations are needed to replicate and extend the present findings.

Prenatal ultrasound, magnetic resonance imaging and therapeutic options for fetal thoracic anomalies: a pictorial essay.

Congenital thoracic anomalies are uncommon malformations that require a precise diagnosis to guide parental counseling and possible prenatal treatment. Prenatal ultrasound (US) is the gold standard imaging modality to first detect and characterize these abnormalities and the best modality for follow-up. Fetal magnetic resonance imaging (MRI) is a complementary tool that provides multiplanar assessment and tissue characterization and can help estimate prognosis. Prenatal treatment is increasingly being used in fetuses with signs of distress and to potentially decrease morbidity and mortality. In this essay, the authors illustrate side-by-side US, MRI and therapeutic options for congenital thoracic anomalies in cases that presented to a tertiary pediatric hospital during the 7-year period 2014-2021. Entities included are congenital diaphragmatic hernia, congenital pulmonary airway malformation, bronchopulmonary sequestration, hybrid lesions, foregut duplications cysts and congenital lobar overinflation. Treatment options include maternal steroids, thoraco-amniotic shunt and fetal endotracheal occlusion. Recognition of typical findings in congenital thoracic anomalies is helpful to establish diagnosis, predict prognosis and plan perinatal treatment.

Prenatal Diagnosis of Skeletal Dysplasias: What Can CT Do for You?

Skeletal dysplasias (SDs) are a heterogeneous group of heritable disorders that affect development of bone and cartilage. Because each SD is individually rare and because of the heterogeneity within and among disorders, prenatal diagnosis of a specific SD remains challenging. Molecular genetic diagnosis involves invasive testing, which some patients are not amenable to. Further, genetic analysis is time consuming, and results may not become available in time to make pregnancy management decisions. Low-dose fetal CT can aid in the prenatal evaluation of SDs. The main downside is the low but true risk of fetal radiation exposure. As such, fetal CT should only be performed when there is concern for a severe skeletal dysplasia and the diagnosis is in question after a detailed ultrasound or if molecular genetic testing is unavailable and when prenatal diagnosis may affect management or counseling. Fetal CT should be obtained after consultation with geneticists, maternal-fetal medicine specialists, and fetal radiologists, and sometimes orthopedic surgeons or neonatologists. The purpose of this study was to review the technique of and indications for fetal CT, as well as discuss fetal radiation risk. Illustrative cases will demonstrate when and how CT may be helpful in the diagnosis of SDs.

Women in pediatric radiology: a call for gender equity.

Pediatric radiology is the only specialty in radiology that is near evenly distributed among genders. Yet the top leadership positions in the field are still mostly occupied by men. In this article we review some of the history of women in pediatric radiology and discuss how to improve women's participation in the highest positions of our subspecialty.

Utilization of neonatal sedation and anesthesia: an SPR survey.

BACKGROUND: There is little data regarding the use of sedation and anesthesia for neonatal imaging, with practice patterns varying widely across institutions. OBJECTIVE: To understand the current utilization of sedation and anesthesia for neonatal imaging, and review the current literature and recommendations. MATERIALS AND METHODS: One thousand, two hundred twenty-six questionnaire invitations were emailed to North American physician members of the Society for Pediatric Radiology using the Survey Monkey platform. Descriptive statistical analysis of the responses was performed. RESULTS: The final results represented 59 institutions from 26 U.S. states, the District of Columbia and three Canadian provinces. Discrepant responses from institutions with multiple respondents (13 out of 59 institutions) were prevalent in multiple categories. Of the 80 total respondents, slightly more than half (56%) were associated with children's hospitals and 44% with the pediatric division of an adult radiology department. Most radiologists (70%) were cognizant of the neonatal sedation policies in their departments. A majority (89%) acknowledged awareness of neurotoxicity concerns in the literature and agreed with the validity of these concerns. In neonates undergoing magnetic resonance imaging (MRI), 46% of respondents reported attempting feed and bundle in all patients and an additional 46% attempt on a case-by-case basis, with most (35%) using a single swaddling attempt before sedation. Sedation was most often used for neonatal interventional procedures (93%) followed by MR (85%), nuclear medicine (48%) and computed tomography (31%). More than half of respondents (63%) reported an average success rate of greater than 50% when using neonatal sedation for MR. CONCLUSION: Current practice patterns, policies and understanding of the use of sedation and anesthesia for neonatal imaging vary widely across institutions in North America, and even among radiologists from the same institution. Our survey highlights the need for improved awareness, education, and standardization at both the institutional level and the societal level. Awareness of the potential for anesthetic neurotoxicity and success of non-pharmacologic approaches to neonatal imaging is crucial, along with education of health care personnel, systematic approaches to quality control and improvement, and integration of evidence-based protocols into clinical practice.

Predicting neonatal outcomes in infants with giant omphalocele using prenatal magnetic resonance imaging calculated observed-to-expected fetal lung volumes.

OBJECTIVE: To examine the association between prenatal magnetic resonance imaging (MRI) based observed/expected total lung volume (O/E TLV) and outcome in neonates with giant omphalocele (GO). METHODS: Between 06/2004 and 12/2019, 67 cases with isolated GO underwent prenatal and postnatal care at our institution. MRI-based O/E TLVs were calculated based on normative data from Meyers and from Rypens and correlated with postnatal survival and morbidities. O/E TLV scores were grouped based on severity into <25% (severe), between 25% and 50% (moderate), and >50% (mild) for risk stratification. RESULTS: O/E TLV was calculated for all patients according to Meyers nomograms and for 49 patients according to Rypens nomograms. Survival for GO neonates with severe, moderate, and mild pulmonary hypoplasia based on Meyers O/E TLV categories was 60%, 92%, and 96%, respectively (p = 0.04). There was a significant inverse association between Meyers O/E TLV and risk of neonatal morbidities (p < 0.05). A similar trend was observed with Rypens O/E TLV, but associations were less often significant likely related to the smaller sample size. CONCLUSION: Neonatal outcomes are related to fetal lung size in isolated GO. Assessment of Meyers O/E TLV allows identification of GO fetuses at greatest risk for complications secondary to pulmonary hypoplasia.

Safety issues related to intravenous contrast agent use in magnetic resonance imaging.

Gadolinium-based contrast agents (GBCAs) have been used to improve image quality of MRI examinations for decades and have an excellent overall safety record. However, there are well-documented risks associated with GBCAs and our understanding and management of these risks continue to evolve. The purpose of this review is to discuss the safety of GBCAs used in MRI in adult and pediatric populations. We focus particular attention on acute adverse reactions, nephrogenic systemic fibrosis and gadolinium deposition. We also discuss the non-GBCA MRI contrast agent ferumoxytol, which is increasing in use and has its own risk profile. Finally, we identify special populations at higher risk of harm from GBCA administration.

Prognostic value of the nutmeg lung pattern/lymphangiectasia on fetal magnetic resonance imaging.

BACKGROUND: A nutmeg lung pattern on magnetic resonance imaging (MRI) is an imaging finding associated with pulmonary lymphangiectasia. However, the prognostic value of the nutmeg lung pattern is unknown. OBJECTIVE: To evaluate the clinical associations of nutmeg lung indicating lymphangiectasia on fetal lung MRI and its relationship with early mortality in fetuses with primary and secondary lymphangiectasia. MATERIALS AND METHODS: We retrospectively identified all pregnant patients with a fetal MRI performed for indication of evaluating for pulmonary lymphangiectasia from 2006 to 2019. Two readers evaluated the fetal MRIs and interobserver agreement was calculated. Multivariable logistic regression models were performed to estimate the association of the echocardiographic findings and the presence of nutmeg lung. Kaplan-Meier and Cox regression analyses were performed to evaluate association with mortality in the first 30 days of life. Survival analysis was defined as mortality or orthotopic heart transplant at 30 days of age. P<0.05 was considered significant. RESULTS: Our sample included 53 fetuses. Forty-seven (89%) had congenital heart disease (CHD) and 6 (11%) were diagnosed postnatally with primary lymphangiectasia. Interobserver agreement was 0.83. Pulmonary vein congestion on echocardiography was the strongest predictor of nutmeg lung (odds ratio [OR]=12.0, P=0.002). Ten fetuses reached the outcome of heart transplantation (n=1) or death (n=9) within the first 30 days of life. In fetuses with CHD, survival of those with nutmeg lung was significantly lower than in those without (P<0.001). Nutmeg lung was an independent risk factor for 30-day mortality (hazard ratio [HR]: 6.1, P=0.01). CONCLUSION: Nutmeg lung pattern on fetal MRI is an independent risk factor associated with 30-day mortality in fetuses with CHD.

Establishing a magnetic resonance safety program.

Establishing a magnetic resonance (MR) safety program is crucial to ensuring the safe MR imaging of pediatric patients. The organizational structure includes a core safety council and broader safety committee comprising all key stakeholders. These groups work in synchrony to establish a strong culture of safety; create and maintain policies and procedures; implement device regulations for entry into the MR setting; construct MR safety zones; address intraoperative MR concerns; guarantee safe scanning parameters, including complying with specific absorption rate limitations; adhere to national regulatory body guidelines; and ensure appropriate communication among all parties in the MR environment. Perspectives on the duties of the safety council members provide important insight into the organization of program oversite. Ultimately, the collective dedication and vigilance of all MR staff are crucial to the success of a safety program.

Specific Absorption Rate and Specific Energy Dose: Comparison of 1.5-T versus 3.0-T Fetal MRI.

Background MRI performed at 3.0 T offers greater signal-to-noise ratio and better spatial resolution than does MRI performed at 1.5 T; however, for fetal MRI, there are concerns about the potential for greater radiofrequency energy administered to the fetus at 3.0-T MRI. Purpose To compare the specific absorption rate (SAR) and specific energy dose (SED) of fetal MRI at 1.5 and 3.0 T. Materials and Methods In this retrospective study, all fetal MRI examinations performed with 1.5- and 3.0-T scanners at one institution between July 2012 and October 2016 were evaluated. Two-dimensional (2D) and three-dimensional (3D) steady-state free precession (SSFP), single-shot fast spin-echo, 2D and 3D T1-weighted spoiled gradient-echo (SPGR), and echo-planar imaging sequences were performed. SAR, SED, accumulated SED, and acquisition time were retrieved from the Digital Imaging and Communications in Medicine header. Data are presented as mean ± standard deviation. Two one-sided tests with equivalence bounds of 0.5 (Cohen d effect size) were performed, with statistical equivalence considered at P < .05. Results A total of 2952 pregnant women were evaluated. Mean maternal age was 30 years ± 6 (age range, 12-49 years), mean gestational age was 24 weeks ± 6 (range, 17-40 weeks). A total of 3247 fetal MRI scans were included, with 2784 (86%) obtained at 1.5 T and 463 (14%) obtained at 3.0 T. In total, 93 764 sequences were performed, with 81 535 (87%) performed at 1.5 T and 12 229 (13%) performed at 3.0 T. When comparing 1.5- with 3.0-T MRI sequences, mean SAR (1.09 W/kg ± 0.69 vs 1.14 W/kg ± 0.61), mean SED (33 J/kg ± 27 vs 38 J/kg ± 26), and mean accumulated SED (965 J/kg ± 408 vs 996 J/kg ± 366, P < .001) were equivalent. Conclusion Fetal 1.5- and 3.0-T MRI examinations were found to have equivalent energy metrics in most cases. The 3.0-T sequences, such as two-dimensional T1-weighted spoiled gradient-echo and three-dimensional steady-state free precession, may require modification to keep the energy delivered to the patient as low as possible. © RSNA, 2020 Online supplemental material is available for this article.

Imaging of fetal tumors and other dysplastic lesions: A review with emphasis on MR imaging.

Fetal tumors and other dysplastic masses are relatively rare. They are usually the result of failure of differentiation and maturation during embryonic or fetal life; dysplastic lesions may be the consequence of an obstruction sequence. In this review, we present the most commonly encountered tumors and masses seen during fetal life. Imaging characteristics, tumoral organ of origin, and its effect on the surrounding organs and overall fetal hemodynamics are descriptors that must be relayed to the fetal surgeon and maternal fetal medicine expert, in order to institute most accurate parental counseling and appropriate perinatal treatment plan.

Magnetic resonance imaging of the fetal musculoskeletal system.

Diagnosing musculoskeletal pathology requires understanding of the normal embryological development. Intrinsic errors of skeletal development are individually rare but are of paramount clinical importance because anomalies can greatly impact patients' lives. An accurate assessment of the fetal musculoskeletal system must be performed to provide optimal genetic counseling as well as to drive therapeutic management. This manuscript reviews the embryology of skeletal development and the appearance of the maturing musculoskeletal system on fetal MRI. In addition, it presents a comprehensive review of musculoskeletal fetal pathology along with postnatal imaging.

How to read a fetal magnetic resonance image 101.

Accurate antenatal diagnosis is essential for planning appropriate pregnancy management and improving perinatal outcomes. The provision of information vital for prognostication is a crucial component of prenatal imaging, and this can be enhanced by the use of fetal MRI. Image acquisition, interpretation and reporting of a fetal MR study can be daunting to the individual who has encountered few or none of these examinations. This article provides the radiology trainee with a general approach to interpreting a fetal MRI. The authors review the added value of prenatal MRI in the overall assessment of fetal wellbeing, discuss MRI protocols and techniques, and review the normal appearance of maternal and fetal anatomy. The paper concludes with a sample template for structured reporting, to serve as a checklist and guideline for reporting radiologists.

Fetal ultrasound and magnetic resonance imaging: a primer on how to interpret prenatal lung lesions.

Fetal lung lesions include common lesions such as congenital pulmonary airway malformation (CPAM), bronchopulmonary sequestration (BPS) and combined CPAM-BPS hybrid lesions, as well as less common entities including congenital lobar emphysema/obstruction, bronchial atresia, bronchogenic cysts and rare malignant pulmonary lesions such as pleuropulmonary blastoma. Fetal lung lesions occur in approximately 1 in 15,000 live births and are thought to arise from a spectrum of abnormalities related to airway obstruction and malformation, with the lesion type depending on the timing of insult, level of bronchial tree involvement, and severity of obstruction. Lesions vary from small and asymptomatic to large and symptomatic with significant mass effect on surrounding structures. Accurate diagnosis and characterization of these anomalies is crucial for guiding patient counseling as well as perinatal and postnatal management. The goal of this review is to provide an overview of normal fetal lung appearance and imaging features of common and uncommon lesions on both ultrasound and MR imaging, and to discuss key aspects in reporting and evaluating the severity of these lesions.

Imaging of fetal lymphangiectasias: prenatal and postnatal imaging findings.

Lymphangiectasias are lymphatic malformations characterized by the abnormal dilation and morphology of the lymphatic channels. The classification and treatment of these disorders can be challenging given the limited amount of literature available in children. Various imaging modalities are used to confirm suspected diagnosis, plan the most appropriate treatment, and estimate a prognosis. Prenatal evaluation is performed using both prenatal US imaging and fetal MRI. These modalities are paramount for appropriate parental counseling and planning of perinatal care. During the neonatal period, chest US imaging is a useful modality to evaluate pulmonary lymphangiectasia because other modalities such as conventional radiography and CT display nonspecific findings. Finally, the recent breakthroughs in lymphatic imaging with MRI have allowed us to better classify lymphatic disorders. Dynamic contrast-enhanced lymphangiography, conventional lymphangiography and percutaneous lymphatic procedures offer static and dynamic evaluation of the central conducting lymphatics in children, with excellent spatial resolution and the possibility to provide treatment. The purpose of this review is to discuss the normal and abnormal development of the fetal lymphatic system and how to best depict it by imaging during the prenatal and postnatal life.