Antenatal Imaging Research Articles

Antenatal and postnatal radiologic diagnosis of holocarboxylase synthetase deficiency: a systematic review.

Holocarboxylase synthetase deficiency results in impaired activation of enzymes implicated in glucose, fatty acid and amino acid metabolism. Antenatal imaging and postnatal imaging are useful in making the diagnosis. Untreated holocarboxylase synthetase deficiency is fatal, while antenatal and postnatal biotin supplementation is associated with good clinical outcomes. Although biochemical assays are required for definitive diagnosis, certain radiologic features assist in the diagnosis of holocarboxylase synthetase deficiency. To review evidence regarding radiologic diagnostic features of holocarboxylase synthetase deficiency in the antenatal and postnatal period. A systematic review of all published cases of holocarboxylase synthetase deficiency identified by a search of Pubmed, Scopus and Web of Science. A total of 75 patients with holocarboxylase synthetase deficiency were identified from the systematic review, which screened 687 manuscripts. Most patients with imaging (19/22, 86%) had abnormal findings, the most common being subependymal cysts, ventriculomegaly and intraventricular hemorrhage. Although the radiologic features of subependymal cysts, ventriculomegaly, intraventricular hemorrhage and intrauterine growth restriction may be found in the setting of other pathologies, these findings should prompt consideration of holocarboxylase synthetase deficiency in at-risk children.

Israeli survey of anesthesia practice related to placenta previa and accreta.

Anesthesia practices for placenta previa (PP) and accreta (PA) impact hemorrhage management and other supportive strategies. We conducted a survey to assess reported management of PP and PA in all Israeli labor and delivery units. After Institutional Review Board waiver, we surveyed all 26 Israeli hospitals with a labor and delivery unit by directly contacting the representatives of obstetric anesthesiology services in every department (unit director or department chair). Each director surveyed provided information about the anesthetic and transfusion management in their labor and delivery units for three types of abnormal placentation based on antenatal placental imaging: PP, low suspicion for PA, and high suspicion for PA. The primary outcome was use of neuraxial or general anesthesia for PP and PA Cesarean delivery. Univariate statistics were used for survey responses using counts and percentages. The response rate was 100%. Spinal anesthesia is the preferred anesthetic mode for PP cases, used in 17/26 (65.4%) of labor and delivery units. By comparison, most representatives reported that they perform general anesthesia for patients with PA: 18/26 (69.2%) for all low suspicion cases of PA and 25/26 (96.2%) for all high suspicion cases of PA. Although a massive transfusion protocol was available in the majority of hospitals (84.6%), the availability of thromboelastography and cell salvage was much lower (53.8% and 19.2% hospitals respectively). In our survey, representatives of anesthesia labor and delivery services in Israel are almost exclusively using general anesthesia for women with high suspicion for PA; however, almost two-thirds use spinal anesthesia for PP without suspicion of PA. Among representatives, we found wide variations in anesthesia practice patterns with regard to anesthesia mode, multidisciplinary management, and hemorrhage anticipation strategies.

Diagnosis of cobblestone lissencephaly and associated Chiari malformation using fetal MRI

Walker-Warburg Syndrome (WWS) is a rare and severe form of autosomal recessive congenital muscular dystrophy affecting the brain, eyes, and muscles. We report a case of an infant diagnosed with cobblestone lissencephaly as well as a Chiari malformation, consistent with likely WWS based on fetal anomalies noted on prenatal ultrasound and confirmed with magnetic resonance imaging (MRI) at 35 week. Although multiple posterior fossa abnormalities have been reported in the setting of WWS, to our knowledge, the co-existence of a Chiari malformation has never before been reported. We describe the fetal MRI and pathological findings of WWS and discuss the role of MRI as an antenatal imaging tool.

Comparison of postmortem ultrasound and X-Ray with autopsy in fetal death: Retrospective study of 169 cases

Abstract Objective To compare the diagnostic yields of joint analysis of ultrasound and X-Ray compared to autopsy in the setting of fetal death. Material and methods Retrospective study of postmortem fetal ultrasounds performed between January 2009 and December 2013 in addition to X-Ray in the work-up for cases of fetal death. Inclusion criteria were a complete anatomical ultrasound study and the availability the foetopathology report. Cases with autopsy refusals were excluded. When cases of TOP were included, antenatal imaging data (US, CT and/or MRI) were available. All scans were performed by a senior pediatric radiologist. Results We collected 169 patients. The gestational age was 27 weeks ±6 days [15–38 WG]. The population consisted mainly of fetuses originating from TOP (164/169 [97%]). Only 5 cases involved in utero fetal deaths (IUFD). Half (50%) of the conditions involved were cerebral. Others were polymalformative syndromes (20%), kidney diseases (10%) and miscellaneous (20%). The duration of the exam was about 10–15 min. Complete concordance between the findings of postmortem imaging and autopsy was observed in 81% [137/169] of cases. Conclusion Ultrasound allows a comprehensive post-mortem study complementary to standard X-Rays. In fetal deaths situations, US is much more relevant than in any other postmortem conditions. Ultrasound, although less effective than MRI, shows a benefit/drawback balance that proves very interesting, especially in the youngest fetuses. Besides it is more available and realistic to use it in a systematic practice.

Late onset bladder outlet obstruction – Antenatal and postnatal imaging

Posterior urethral valve (PUV) is one of the most common causes of bladder outlet obstruction (BOO) in the fetus. It is diagnosed on antenatal ultrasound by the presence of distended urinary bladder with bilateral hydroureteronephrosis. In males, the most common cause of BOO is PUV; while in females, common causes are urethral atresia, cloacal plate anomalies or megacystis microcolon syndrome. The reported incidence is approximately 2 out of 10,000 births. The severity of prenatal BOO ranges from mild to severe. Severe long standing BOO is associated with cystic renal dysplasia, abnormal renal (glomerular and tubular) function leading to oligohydramnios. Untreated cases are associated with higher mortality due to pulmonary hypoplasia secondary to severe oligohydramnios. Those who survive into the neonatal

Antenatal imaging of anomalies of the corpus callosum: a decade of experience.

To assess the diagnostic accuracy of antenatal ultrasound and foetal magnetic resonance imaging (FMRI) over the past decade in the diagnosis of anomalies of the corpus callosum in a tertiary referral centre. A single tertiary referral centre ultrasound database was searched for cases of suspected callosal anomalies between 2003 and 2012. All subsequent ultrasound scans, MRIs, neonatal imaging, postmortem investigations and birth records were reviewed. Callosal anomalies were classified into isolated or complex based on the presence or absence of accompanying congenital anomalies. Forty-three cases of callosal anomaly were detected; 60 % were investigated by FMRI revealing additional diagnoses in 23 %; half of which were anomalies of cortical development. Of those considered isolated who underwent FMRI, 21 % were diagnosed with additional anomalies, changing the classification to a complex callosal anomaly. In cases of callosal anomaly suspected on ultrasound, FMRI provides greater certainty and the potential to identify significant additional anomalies. The additional information may alter or clarify prognosis and help parents to better understand the pathology, allowing for informed decisions about the pregnancy to be made. However, some cases may still be diagnosed with additional anomalies after delivery and parents should be aware of such limitations of antenatal imaging.

Antenatal and postnatal sonographic imaging findings of a single ventricle presenting as double outlet right ventricle with rudimentary left ventricle and single atrium

Congenital heart disease is a major cause of morbidity and mortality. Single ventricle is a rare finding and usually of left ventricular morphology. We present here interesting antenatal and postnatal echocardiographic findings of a baby having a rare single ventricle of right ventricular morphology with double outlet. Antenatally we saw a large ventricular septal defect indistinguishable from a single ventricle with left to right ventricular ratio of 1:1. Postnatally we saw a single ventricle having the outlets for both the main pulmonary artery and aortic root. The left ventricle is collapse with a rudimentary morphology possibly due to changes in hemodynamics after birth and absent of outlet from it.

Diagnosis and Treatment of Prenatal Urogenital Anomalies: Review of Current Literature

With current advances in antenatal medicine it is feasible to diagnose prenatal anomalies earlier and potentially treat these anomalies before they become a significant postnatal problem. We discuss different methods and signs of urogenital anomalies and emphasize the use of telemedicine to assist patients and healthcare providers in remote healthcare facilities, in real time. We discuss prenatal urogenital anomalies that can be detected by antenatal ultrasound and fetal magnetic resonance imaging. Ultimately, we address the natural history of urogenital anomalies, which need surgical intervention, and emphasize ex-utero intrapartum treatment procedures and other common surgical techniques, which alter the natural history of urogenital anomalies.

In Utero Sonographic Findings of Giant Hepatic Hemangioma and Associated Perinatal Complications: A Report of Two Cases

It is uncommon to diagnose fetal hepatic hemangioma during the antenatal period. We describe herein two patients with a giant hepatic hemangioma detected antenatally, both with perinatal complications. In Case 1, a fetal intra-abdominal mass, measuring 63 mm × 50 mm × 74 mm, was observed below the right lobe of the liver, and the presumptive antenatal diagnosis of hepatic hemangioma was made at 37 weeks of gestation. Antenatal imaging suggested an intratumoral hemorrhage, but postnatal clinical findings refuted this diagnosis. However, progressive thrombocytopenia and coagulopathy were noted just after birth, resulting in the diagnosis of Kasabach–Merritt syndrome. In Case 2, our ultrasound examination performed at 40 weeks of gestation revealed a mixed solid and cystic hepatic tumor, measuring 99 mm × 54 mm. Further, antenatal sonography revealed cardiomegaly, increased descending-aorta velocity, atrioventricular valvular regurgitation, and a dilated inferior vena cava, suggesting high-output cardiac insufficiency. Giant hepatic hemangiomas can lead to severe complications such as cardiac insufficiency and Kasabach–Merritt syndrome, and these complications may occur during the fetal or early neonatal period. Detailed prenatal evaluation using fetal imaging and cord-blood sampling is important to determine proper antenatal management of patients with giant hepatic hemangiomas and to allow for prompt postnatal treatment.

OP22.08: Variability of hippocampal commissure at antenatal magnetic resonance imaging (MRI) in fetuses with isolated complete callosal agenesis

<scp>OP</scp>22.08: Variability of hippocampal commissure at antenatal magnetic resonance imaging (<scp>MRI</scp>) in fetuses with isolated complete callosal agenesis

P22.08: The diagnostic value of antenatal magnetic resonance imaging in cases suspected to have placental adhesive disorders (PAD)

<scp>P</scp>22.08: The diagnostic value of antenatal magnetic resonance imaging in cases suspected to have placental adhesive disorders (<scp>PAD</scp>)

Need for Fetal Autopsy and Genetic Diagnosis in Fetal Limb Anomalies

AbstractImproved antenatal imaging has led to increased detection rates of fetal limb anomalies. While they are nonlethal, they could be the first indication of an underlying genetic disorder. In the event of termination, postmortem and genetic evaluation are rarely performed, missing the opportunity to diagnose genetic disorders. The aim of the present study was to examine the utility of fetal autopsy in antenatally detected limb anomalies and to determine the incidence of genetic disorders in the same cohort. This was a retrospective evaluation of 59 cases. Only fetuses terminated for limb anomalies, either in isolation or in association with other features, were included. Cases terminated for lethal skeletal dysplasia and arthrogryposis multiplex congenita were excluded. Cases where limb defects were diagnosed after termination were also not included. The antenatal ultrasound records were compared to postmortem findings to determine the concordance rates. Chromosomal studies along with fetal autopsy were performed in all cases. Mutation analysis was also carried out where possible. Complete concordance between antenatal and postnatal findings was observed in 61 % of the cases. In 23.7 % of the cases, additional major anomalies were observed, the commonest being orofacial clefts. A genetic association was present in 62.7 % of the cases, of which, 25.4 % had an abnormal karyotype. Bilateral limb involvement and presence of associated features were strong predictors of genetic syndromes.

Foetal radiography for suspected skeletal dysplasia: technique, normal appearances, diagnostic approach.

Despite advances in antenatal imaging and genetic techniques, post-delivery post-mortem foetal radiography remains the key investigation in accurate diagnosis of skeletal dysplasia manifesting in the foetus. Foetal radiography is best performed using pathology-specimen radiography equipment and is often carried out in the pathology department without involvement of the radiology unit. However, paediatric radiologists may be asked to interpret post-mortem foetal radiographs when an abnormality is suspected. Many foetal radiographs are carried out before 20weeks' gestation, and the interpreting radiologist needs to be familiar with the range of normal post-mortem foetal appearances at different gestational ages, as well as the appearances of some of the more commonly presenting skeletal dysplasias, and will benefit from a systematic approach when assessing more challenging cases. In this pictorial essay, we illustrate various normal post-mortem foetal radiographic appearances, give examples of commonly occurring skeletal dysplasias, and describe an approach to establishing more difficult diagnoses.

A Review of Common Congenital Anomalies of the Kidneys and Urinary Tract: From Antenatal Diagnosis to Postnatal Follow-up

Anomalies of the fetal kidneys and urinary tract are one of the most common groups of structural abnormalities discovered on routine antenatal imaging. In select cases, these anomalies represent serious medical conditions that can have varying consequences, from recurrent urinary tract infections to renal scarring and even childhood end stage renal disease. It is therefore important to differentiate which findings on antenatal ultrasound will require further evaluation and possible postnatal treatment. The finding of any urogenital abnormality warrants a detailed ultrasound to evaluate both for additional urologic abnormalities as well as for other structural anomalies. This review will focus on the antenatal diagnosis and postnatal management of several of the most common congenital anomalies of the kidney and urinary tract, as well as some of the more controversial aspects of diagnosis and follow-up in these conditions. In addition, the importance of a cooperative team approach in the care of these patients is emphasized. Often recommendations for surveillance and treatment will be individualized based upon the presumptive antenatal diagnosis. Therefore, it is critical to maintain communication between practitioners who diagnose prenatally, those who will make decisions on surveillance and treatment in the postnatal period, and our patients.

Prenatal hydronephrosis: postnatal evaluation and management.

Congenital hydronephrosis is one of the most common anomalies identified on antenatal ultrasound. The underlying etiology of congenital hydronephrosis is multifold, ranging from transient hydronephrosis in utero to clinically significant congenital anomalies of the kidney and urinary tract. While traditional management of hydronephrosis was aimed at relieving symptoms, the advent of routine prenatal ultrasound has led to a shift in the goal of treatment to prevention of renal injury in the asymptomatic patient. However, despite this focus on renal preservation, the diagnostic criteria for identification of children "at risk" for renal damage that can be alleviated by surgical treatment remain a subject of debate. Both antenatal and postnatal imaging studies have been evaluated as indicators for potential reversible renal damage and have been used as potential indicators of the need for surgical intervention. The aim of this review is to discuss the current literature regarding the role of postnatal clinical and radiographic evaluation to identify children who may benefit from early surgical intervention.

English

Dandy Walker malformation is a rare congenital abnormality that affects the cerebellum and some of its components; particularly hypoplasia of cerebellar vermis, a cystic dilatation of fourth ventricle and is characterized by an enlarged posterior fossa. Here we present a case of classical DWM with antenatal and postnatal imaging.

PFM.39 Diagnostic accuracy of antenatal magnetic resonance imaging (MRI) to predict birth weight >90th centile or < 10th centile in the third trimester

IntroductionAccurate diagnosis of disturbance in fetal size is needed to manage pregnancies and ensure optimal outcome. Conventionally ultrasound is used to estimate fetal weight (EFW) but diagnostic accuracy is poor.MethodsFetal...

Imaging findings in Down syndrome.

Down syndrome, or trisomy 21, is the most common chromosomal anomaly and is characterized by intellectual disability and a typical facies. People with Down syndrome can have abnormalities of multiple organ systems. Cardiac and respiratory system involvement is the most common cause of morbidity and mortality, although every organ system can be affected. Patients may present prenatally with findings on screening sonography. If the diagnosis is not made prenatally, it is apparent at birth because of the characteristic facial features and musculoskeletal findings. Children with Down syndrome present to the radiology department at various ages depending on the severity of the specific finding. The purpose of this paper is to review the most common antenatal and postnatal imaging findings of Down syndrome as they manifest throughout the body.

Inferior vermian hypoplasia – preconception, misconception

Inferior vermian hypoplasia – preconception, misconception

Perinatal- and procedure-related outcomes following radiofrequency ablation in monochorionic pregnancy

We sought to assess the efficacy, complication rates, and outcomes for complex monochorionic pregnancies undergoing selective fetal reduction using radiofrequency ablation (RFA). In this prospective observational study, 100 consecutive cases of selective fetal reduction using RFA were analyzed. All cases were managed at the Centre for Fetal Care at Queen Charlotte's and Chelsea Hospital in London. Indications for offering RFA, details of the procedure, and pregnancy outcomes were collected and analyzed. The main indications for RFA were discordant fetal anomaly and twin-twin transfusion syndrome. Overall live birth rate was 78% and the median gestation at delivery was 35.15 weeks. Delivery <32 weeks' gestation occurred in 17.9% of cases. Postprocedure abnormal antenatal magnetic resonance imaging occurred in 3% of cases. There was no statistical difference in outcomes with regard to gestation when the procedure was performed or the indication for the RFA. RFA appears to be a reasonable option for selective fetal reduction in complex monochorionic pregnancies with an overall survival rate of 78%.