Prenatal Imaging Features Research Articles

Unusual presentation of a case of fetal hepatic mass: a case report

BackgroundGiant hepatic hemangiomas are rare and can cause serious complications that contribute to a high risk of perinatal mortality. The purpose of this article is to review the prenatal imaging features, treatment, pathology, and prognosis of an atypical fetal giant hepatic hemangioma and to discuss the differential diagnosis of fetal hepatic masses.Case presentationA gravida 9, para 0 woman at 32 gestational weeks came to our institution for prenatal ultrasound diagnosis. A complex, heterogeneous hepatic mass measuring 5.2 × 4.1 × 3.7 cm was discovered in the fetus using conventional two-dimensional ultrasound. The mass was solid and had both a high peak systolic velocity (PSV) of the feeding artery and intratumoral venous flow. Fetal magnetic resonance imaging (MRI) revealed a clear, hypointense T1-W and hyperintense T2-W solid hepatic mass. Prenatal diagnosis was very difficult due to the overlap of benign and malignant imaging features on prenatal ultrasound and MRI. Even postnatally, neither contrast-enhanced MRI nor contrast-enhanced computed tomography (CT) was useful in accurately diagnosing this hepatic mass. Due to persistently elevated Alpha-fetoprotein (AFP), a laparotomy was performed. Histopathological examination of the mass showed atypical features such as hepatic sinus dilation, hyperemia, and hepatic chordal hyperplasia. The patient was ultimately diagnosed with a giant hemangioma, and the prognosis was satisfactory.ConclusionsWhen a hepatic vascular mass is found in a third trimester fetus a hemangioma should be considered as a possible diagnosis. However, prenatal diagnosis of fetal hepatic hemangiomas can be challenging due to atypical histopathological findings. Imaging and histopathological assays can provide useful information for the diagnosis and treatment of fetal hepatic masses.

Predicting Outcome of Congenital Cytomegalovirus Infection by Differentiating and Revisiting Severe versus Mild Prenatal Imaging Features

Introduction: Our objective was to evaluate the outcome of fetuses with first- and second-trimester fetal cytomegalovirus infection (CMVi) according to prenatal imaging patterns, especially fetuses presenting with mild imaging features (MF), being currently of uncertain prognosis. Material and Methods: In a retrospective study of 415 suspected CMVi cases, 59 cases were confirmed. Among prenatal imaging features, microcephaly, cortical disorder, and cerebellar hypoplasia as well as severe IUGR and fetal hydrops were considered as severe imaging features (SF). Other imaging features were considered as MF. Postnatal outcome was classified as “normal outcome,” “mild sequelae” characterized mainly by sensorineural disorder (SND) and “severe sequelae” characterized by cognitive impairment. Results: Only first-trimester (T1) and second-trimester (T2) CMVi cases were included in our study (n = 49) since all third-trimester cases (n = 10) had normal imaging and outcome. Sixteen fetuses had normal prenatal imaging and normal outcome, except one showing SND. Abnormal ultrasound findings were present in 33 fetuses, including SF noted in 16 fetuses, related exclusively to first-trimester CMVi. Termination of pregnancy was performed in 18 cases. Twelve first-trimester infected fetuses presented SF, whereas 6 fetuses (T1: n = 5, T2: n = 1) presented isolated MF. Four fetal deaths were encountered. Live-born babies with abnormal imaging included 10 fetuses with MF and one with SF. Among the 10 live babies with isolated MF, SND was encountered in 5 cases, whereas 5 children demonstrated normal outcome. Overall, 50% of our babies showing MF suffered from SND. No case of cognitive disorders was reported in babies showing only MF. Conclusion: SF were encountered only in first-trimester CMVi and should be distinguished from MF. Among our 10 live babies with prenatal MF following first- or second-trimester infection, 50% showed SND, whereas none presented severe sequelae. In 16 fetuses displaying normal fetal imaging, SND was encountered in one first-trimester case (6%).

Prenatal diagnosis and prognostic factors analysis of fetal sacrococcygeal teratoma

Objective: To investigate the prenatal diagnosis and prognostic factors of fetal sacrococcygeal teratoma (SCT). Methods: A retrospective analysis was performed on 41 pregnant women who were diagnosed with fetal SCT by prenatal ultrasound at the Women's Hospital, Zhejiang University School of Medicine from January 2014 to September 2021. The prenatal imaging features and pregnancy outcomes, including tumor volume to fetal weight ratio (TFR), proportion of solid tumor, tumor growth rate (TGR), fetal hydrops, placentomegaly and polyhydramnios were analyzed. Receiver operating characteristic (ROC) curve was used to determine the critical values of TFR and TGR for predicting adverse fetal outcomes. Results: (1) Among the 41 pregnant women with fetal SCT, the diagnostic gestational week of ultrasound was (24.2±2.9) weeks (range: 18-28 weeks). Among them, 1 case progressed to fetal hydrops and induced labor at 22 weeks of gestation, 1 case developed intrauterine death and induced labor at 29 weeks of gestation, and 39 pregnancies continued until delivery. Among the 39 cases of continued pregnancy, 1 case underwent cesarean section at 31 weeks of gestation due to malignant polyhydramnios and increased fetal cardiothoracic ratio in the third trimester, 1 case underwent cesarean section at 32 weeks of gestation due to fetal heart failure, and 1 case underwent cesarean section at 32 weeks of gestation due to fetal heart failure and hydrops. The other 36 cases underwent surgical resection of tumor within 3 weeks after birth with good prognosis. (2) TFR>0.12 before 28 weeks of gestation could predict poor fetal prognosis, with a sensitivity of 100.0%, a specificity of 86.1% and an area under curve (AUC) of 0.922 (P<0.01). Among the fetuses with TFR>0.12, 5/10 had poor prognosis, while the fetuses with TFR≤0.12 all had good prognosis (100%,31/31), and the difference between the two groups was statistically significant (P<0.001). (3) TGR>48 cm3/week could predict poor fetal prognosis with a sensitivity of 100.0%, a specificity of 78.3% and an AUC of 0.880 (P<0.05). (4) Among the 28 SCT fetuses delivered in our hospital, the incidence rate of poor fetal prognosis was 0 (0/20) in those with solid tumor component<50%, and 5/8 in those with solid tumor component ≥50%, and the difference between the two groups was statistically significant (P<0.01). The incidence rate of poor fetal prognosis was 2/2 in those with placentomegaly (all with fetal hydrops), and 12% (3/26) in those without placentomegaly. The risk of poor fetal prognosis was 8.67 times higher in those with placentomegaly than those without placentomegaly, and the difference between the two groups was statistically significant (P<0.05). The incidence rate of poor fetal prognosis in those with polyhydramnios was 3/7, and 10% (2/21) in those without polyhydramnios, but there was no statistically significant difference between the two groups (P>0.05). Conclusion: TFR combined with solid tumor morphology, TGR, and presence of placentomegaly could predict the adverse pregnancy outcomes of fetal SCT.

Fetal thoracic teratomas: mediastinal or pericardial?

Mediastinal and pericardial teratomas have overlapping imaging features that may make accurate prenatal diagnosis challenging. To identify prenatal imaging features that may aid in distinguishing between mediastinal and pericardial teratomas. Prenatally diagnosed pericardial and mediastinal teratomas evaluated at our fetal center from 1995 to 2020 were included in this Institutional Review Board-approved study. Lesion volume was calculated using prospectively reported ultrasound (US) measurements and the formula of a prolate ellipsoid, which was then normalized to head circumference. Prenatal US and magnetic resonance imaging (MRI) studies were anonymized with two fetal imagers reviewing the US studies and two different fetal imagers reviewing the MRI studies. These experienced reviewers scored location of the mass in the craniocaudal axis and in the transverse axis. MRI reviewers also scored the presence of inferior cardiaccompression by the lesion and whether there was identifiable thymic tissue. Reviewer disagreements were resolved by consensus review. Eleven pericardial teratomas and 10 mediastinal teratomas were identified. All cases underwent detailed fetal anatomic US and fetal echocardiogram and 10/11 (91%) pericardial teratomas and 8/10 (80%) mediastinal teratomas underwent fetal MRI. Median volume was higher for mediastinal teratomas compared to pericardial teratomas (42.5mL [interquartile range (IQR) 15.9 - 67.2mL] vs. 8.1mL [IQR 7.7 - 27.7mL], P=0.01) and median volume/head circumference was also statistically higher in mediastinal teratomas (1.33 [IQR 0.78 - 2.61] vs. 0.43 [IQR 0.38 - 1.10], P=0.01). Logistic regression analysis demonstrated a statistical difference between teratoma types with respect to location in the craniocaudal axis by both modalities with mediastinal teratomas more commonly located in the upper and upper-middle thorax compared to pericardial teratomas, which were more commonly found in the middle thorax (US, P=0.03; MRI, P=0.04). Logistic regression analysis also demonstrated a statistical difference between teratoma types with respect to position along the transverse axis by both modalities with mediastinal teratomas more commonly located midline or left paramedian and pericardial teratomas more often right paramedian in location (US, P&lt;0.01; MRI, P=0.02). Inferior cardiac compression observed by MRI was associated more commonly with mediastinal teratomas compared to pericardial teratomas (87.5% [7/8] vs. 10% [1/10], P&lt;0.01). Identifiable thymus by MRI was more commonly observed in cases of pericardial teratomas, however, this difference was not statistically significant (P=0.32). Mediastinal teratomas are associated with larger lesion size and inferior cardiac compression when compared to pericardial teratomas. These features combined with lesion location in the craniocaudal and transverse axes may allow for more accurate prenatal diagnosis and optimal perinatal and surgical management.

Prenatal imaging features related to RAC3 pathogenic variant and differential diagnoses.

This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved. What's already known about this topic? Six individuals between 5- and 19-year-old were reported with pathogenic variants in RAC3 responsible for brain malformations involving midline What does this study add? RAC3-fetopathy is associated with fetal akinesia deformation sequence, and complex brain malformations including corpus callosum agenesis, diencephalosynapsis, kinked brainstem, and vermian hypoplasia The differential diagnoses with prenatal kinked brainstem include fetopathies related to KIAA1109, L1CAM, Walker-Warburg syndrome and tubulinopathies. The present report adds the RAC3 related condition to this list.

Prenatal imaging features and perinatal outcomes of foetal volvulus-A literature review.

To conduct a review of the literature on foetal volvulus with emphasis on prenatal imaging, pregnancy characteristics and clinical outcomes. A review of all published cases of foetal volvulus diagnosed prenatally and indexed in Medline, EBSCOhost, CINAHL, SOCIndex and Healthy Policy Reference Centre. Studies without antenatal sonographic signs of foetal volvulus and without a postpartum surgical diagnosis were excluded. Data were analysed for frequencies and distributions and tested for statistical significance. Eighty-eight cases of foetal volvulus were identified from 58 published case reports/series. The most common ultrasound findings were dilated bowel/stomach (77.3%), polyhydramnios (30.7%) and whirlpool/snail sign (28.4%). Median gestation at diagnosis was 31.9weeks (IQR 27-34) and mean gestation at delivery was 34.5weeks (SD 2.8). Underlying aetiology included intestinal malrotation (15.9%), cystic fibrosis (14.8% of all cases, 32.5% of tested cases) and abnormal mesenteric fixation (12.5%). Complications included intestinal atresia (36.4%) and foetal anaemia (9.1%). The overall perinatal mortality rate was 14.5%. Foetal volvulus is a rare condition with high rates of preterm birth and perinatal mortality. Intestinal malrotation and cystic fibrosis are common predisposing causes, although the majority are idiopathic. Bowel and/or gastric dilatation is by far the most common sonographic finding.

Identifying prenatal ultrasound predictors and the ideal neonatal management of closing gastroschisis: the key is prevention.

To evaluate the optimal approaches to initial surgical management and the potential for prenatal ultrasound detection of patients with closing gastroschisis. We performed a retrospective analysis of patients born with gastroschisis to determine clinical and surgical outcomes and the ability to determine prognosis by prenatal imaging. Data collected included operative findings and postoperative outcome, as well as prenatal imaging features from a subset of cases with and without closing gastroschisis. Statistical analyses were performed as appropriate. We included 197 patients with gastroschisis. No statistical significance was seen in outcomes between closing gastroschisis patients undergoing resection versus intracorporeal parking (n = 18). Ultrasound review was performed on 33 of these patients, 11 with closing gastroschisis, and 22 without. Significantly more closing gastroschisis patients had imaging indicative of progressive defect narrowing and defect diameter ≤8 mm after 30 weeks of gestation versus non-closing patients (p = 0.002). Parking of extruded bowel offers potential for intestinal remodeling. In addition, prenatal ultrasound may be useful in detection of closing gastroschisis in utero.

Prenatal Imaging Diagnosis of Suprarenal Lesions

Introduction: Prenatal suprarenal lesions represent diverse pathologies. This study investigated prenatal imaging features and regression patterns associated with specific lesion diagnoses. Methods: This is a multicenter retrospective review of fetuses with prenatally diagnosed suprarenal lesions between 2001 and 2019. Prenatal ultrasound and MRI characteristics, postnatal imaging, and clinical course were reviewed. Prenatal imaging findings were compared by the most common diagnoses and regression patterns. Results: Forty-four fetuses were prenatally diagnosed with suprarenal lesions. Diagnoses included pulmonary sequestration (n = 12; 27.3%), adrenal hemorrhage (n = 12; 27.3%), upper quadrant cyst (including 2 duplication cysts, 1 splenic cyst, and 3 indeterminate cysts), neuroblastoma (n = 4), adrenal hyperplasia (n = 3), bilateral adrenal calcifications (n = 1), and indeterminate lesions (n = 6). Sequestrations were uniformly left-sided (100 vs. 50%; p = 0.014) and diagnosed earlier in gestation than adrenal hemorrhages (p = 0.025). Sequestrations were also significantly more likely to have a prenatal feeding vessel (p = 0.005), low T1 MRI signal (p = 0.015), and no MRI blood products (p = 0.018) compared to adrenal hemorrhages. When comparing all 44 patients, a prenatal feeding vessel and low T1 signal on prenatal MRI were significantly associated with lesion persistence (p = 0.003; p = 0.044). Discussion/Conclusion: Imaging findings on prenatal ultrasound and MRI aid in the diagnosis of suprarenal lesions, including differentiating pulmonary sequestrations and adrenal hemorrhages.

Prenatal Imaging Features and Postnatal Outcome of Short Corpus Callosum: A Series of 42 Cases

Objectives: Our goal was to provide a better understanding of isolated short corpus callosum (SCC) regarding prenatal diagnosis and postnatal outcome. Methods: We retrospectively reviewed prenatal and postnatal imaging, clinical, and biological data from 42 cases with isolated SCC. Results: Prenatal imaging showed SCC in all cases (n = 42). SCC was limited to rostrum and/or genu and/or splenium in 21 cases, involved body in 16 cases, and was more extensive in 5 cases. Indirect imaging features included typical buffalo horn ventricles (n = 14), septal dysmorphism (n = 14), parallel lateral ventricles (n = 12), and ventriculomegaly (n = 4), as well as atypical features in 5 cases. SCC was associated with interhemispheric cysts and pericallosal lipomas in 3 and 6 cases, respectively. Aneuploidy was found in 2 cases. Normal psychomotor development, mild developmental disorders, and global developmental delay were found in 70, 15, and 15% of our cases, respectively. Conclusions: SCC should be investigated to look for pericallosal lipoma and typical versus atypical indirect features of corpus callosum agenesis (CCA). Prenatal counselling should be guided by imaging as well as clinical and genetic context. Outcome of patients with SCC was similar to the one presenting with complete CCA.

Long-term postnatal outcome of fetuses with prenatally suspected septo-optic dysplasia.

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

The Complexity of Prenatal Prognosis in Congenital Diaphragmatic Hernia: Clues to Clinical Heterogeneity

Background Accurate prenatal counseling impacts obstetrical and neonatal care of fetuses diagnosed with Congenital Diaphragmatic Hernia (CDH). Numerous prenatal imaging features such as liver herniation (LH), total lung volume (TLV), observed/expected Lung-to-Head ratio (O/E LHR), and percent predicted lung volume (PPLV) have been independently shown to predict outcomes. In an era of standardized treatment for neonates with CDH and with technological advancements in prenatal ultrasound and magnetic resonance imaging, we …

Prenatal imaging features and postnatal outcomes of isolated fetal duplex renal collecting system: A systematic review and meta-analysis.

To perform a systematic review of studies reporting the outcome of fetuses with a prenatal diagnosis of isolated duplex collecting system (DCS). Inclusion criteria were studies reporting the outcome of fetuses with a prenatal diagnosis of isolated DCS, defined as DCS not associated with other major structural anomalies at the time of diagnosis. The outcomes observed were: imaging features of DCS on prenatal ultrasound, associated anomalies detected exclusively at prenatal follow-up ultrasound and at birth, abnormal karyotype, symptoms at birth (including vesicoureteral reflux [VUR] and urinary tract infections [UTI]), need for and type of surgical approach, complications after surgery, and accuracy of prenatal ultrasound in correctly identifying this anomaly. Eleven studies (284 fetuses with a prenatal diagnosis of DCS) were included. On ultrasound, DCS was associated with ureterocele in 70.7% and with megaureter in 36.6% of cases. Worsening of pelvic/ureteric dilatation was reported to occur in 41.3% of fetuses. At birth, 4.3% of fetuses affected by DCS showed associated renal anomalies. After birth, VUR and UTI presented in 51.3% and 21.7% of children respectively, while 33.6% required surgery. Prenatal diagnosis of DCS was confirmed in 90.9% of included cases. DCS diagnosed prenatally is associated with a generally good outcome. Prenatal ultrasound has a good diagnostic accuracy, while detailed postnatal assessment is required in order to identify associated renal anomalies.

Prenatal Imaging Features and Postnatal Factors Associated with Gastrointestinal Morbidity in Congenital Diaphragmatic Hernia

Background: To perform a comprehensive assessment of postnatal gastrointestinal (GI) morbidity and determine the prenatal imaging features and postnatal factors associated with its development in patients with congenital diaphragmatic hernia (CDH). Materials and Methods: A retrospective review was conducted of all infants evaluated for CDH at a quaternary fetal center from February 2004 to May 2017. Prenatal imaging features and postnatal variables were analyzed. GI morbidity was the primary outcome. The Mann-Whitney U test, the Kruskal-Wallis test with Dunnett’s T3 post hoc analysis and logistic regression, and the χ² test were performed when appropriate. Results: We evaluated 256 infants; 191 (75%) underwent CDH repair and had at least 6 months of follow-up. Of this cohort, 60% had gastroesophageal reflux disease (GERD), 13% had gastroparesis, 32% received a gastrostomy tube (G-tube), and 17% needed a fundoplication. Large defect, patch repair, extracorporeal membrane oxygenation (ECMO), and prolonged use of mechanical ventilation were significantly associated with having GERD, gastroparesis, G-tube placement, and fundoplication (p < 0.05). Fetuses with stomach grades 3 and 4 were most likely to have GERD, a G-tube, and a long-term need for supplemental nutrition than fetuses with stomach grades 1 and 2 (p < 0.05). Conclusion: Survivors of CDH with large defects, prolonged use of mechanical ventilation, or that have received ECMO may be at an increased risk for having GERD, gastroparesis, and major GI surgery. Marked stomach displacement on prenatal imaging is significantly associated with GI morbidity in left-sided CDH.

Prenatal ultrasonographic features of fetal total anomalous pulmonary venous connection

Objective To investigate the prenatal ultrasonographic features of fetal total anomalous pulmonary venous connection (TAPVC). Methods Forty-one cases who received prenatal ultrasound examination and then were diagnosed with TAPVC by postnatal surgery at the Third Affiliated Hospital of Zhengzhou University from June 2013 to June 2018 were enrolled. Echocardiography findings of all cases were analyzed retrospectively, and the prenatal imaging features were summarized. Results Among all cases, 21 were confirmed as supracardiac type, 14 as intracardiac type, four as infracardiac type and two as mixed type after surgery. The echocardiographic features of TAPVC were as follows: all 41 cases showed smooth posterior wall of left atrium without visible part of pulmonary venous connected to the left atrium in the-four chamber view; in 33 cases, the space between left atrium and descending aorta was widened and the pulmonary venous confluence was observed in the four-chamber view; ten cases showed a dilated coronary sinus in the four-chamber view and 27 cases showed vertical vein in the three vessels and trachea or the upper abdomen view. None of the 41 cases was complicated by other structural intracardiac abnormalities. However, seven cases were complicated by obstruction of blood flow, and the blood flow velocity measured by Doppler ultrasound was 0.76 m/s to 1.25 m/s. Conclusions Blood flow in pulmonary veins should be carefully observed in prenatal ultrasonography, and anomalous pulmonary venous connection should be considered when pulmonary veins do not connect to the left atrium. Key words: Pulmonary veins; Congenital abnormalities; Scimitar syndrome; Ultrasonography, prenatal

MRI and ultrasound scan in prenatal diagnosis of congenital esophageal atresia

Objective To investigate the prenatal imaging features of fetal congenital esophageal atresia and to further evaluate the value of MRI and ultrasound scan in the same condition. Methods This study recruited 12 singleton gravidas whose fetuses were initially suspected with congenital esophageal atresia by prenatal ultrasound scan and then confirmed by surgery and/or upper gastrointestinal angiography after birth at Guangzhou Women and Children's Medical Center from May 2011 to May 2017. Imaging features of prenatal MRI and ultrasonography of the 12 fetuses were retrospectively analyzed. Differences in imaging findings of these two methods were analyzed by Chi-square test. Results All 12 women received prenatal ultrasound examination and eight of them underwent MRI scan when fetal congenital esophageal atresia was suggested by ultrasound. Both ultrasound and MRI were capable of identifing polyhydramnios and absent or small stomach bubble (12/12 and 8/8, respectively). However, MRI was superior to ultrasound in detecting pouch /oral filling sign or poor filling of small intestine (7/8 vs 3/12 and 8/8 vs 0/12, χ2 were 7.500 and 20.000, both P 0.05). The total detection rates after 32 weeks of gestation of Gross Ⅰ and GrossⅢ cases were both 3/6. Conclusions Prenatal MRI is a vital supplement to ultrasound due to its high display rate of characterized features of congenital esophageal atresia. Thus, the combined use of ultrasound and MRI is of great importance for prenatal diagnosis of this fetal abnormality. Key words: Esophageal atresia; Ultrasonography, prenatal; Magnetic resonance imaging

Prenatal imaging features suggestive of liver gestational allo immune disease

We report prenatal imaging features of four cases of neonatal hemochromatosis due to an alloimmune disease. All cases exhibited intra uterine growth restriction (IUGR) without arguments for a vascular etiology, associated with oligohydramnios. Placental hydrops was present in 75% of cases. Splenomegaly was identified in one case. Other causes of NH have been ruled out during diagnostic workup including karyotype, detection of IGFBP-1 to evaluate a premature rupture of membranes, maternal serologic tests. MRI was performed in two cases and showed an atrophic liver associated with a low signal intensity on T2-sequence in one case. Prenatal NH was suspected in this later case and the fetus was successfully treated with two IVIG (intravenous immunoglobulins) perfusions performed during pregnancy followed by exchange transfusion and IVIG after birth. The child is doing well with normal liver function tests after 17 months of follow up. Our aim was to highlight the importance of suggesting NH-GALD when facing IUGR with oligohydramnios, ascites, placental hydrops, splenomegaly on prenatal ultrasound with negative work up for placental vascular pathologies and infectious fetopathies. MRI might be of a good help, showing an atrophic liver but enhancing iron overload in hepatic and extrahepatic tissue is helpful but not constant.

OP06.05: The usefulness of prenatal imaging features in discovering pathogenic genomic variations in fetal agenesis of corpus callosum

OP06.05: The usefulness of prenatal imaging features in discovering pathogenic genomic variations in fetal agenesis of corpus callosum

Malformations of Cortical Development: From Postnatal to Fetal Imaging.

Abnormal fetal corticogenesis results in malformations of cortical development (MCD). Abnormal cell proliferation leads to microcephaly or megalencephaly, incomplete neuronal migration results in heterotopia and lissencephaly, neuronal overmigration manifests as cobblestone malformations, and anomalous postmigrational cortical organization is responsible for polymicrogyria and focal cortical dysplasias. MCD comprises various congenital brain disorders, caused by different genetic, infectious, or vascular etiologies and is associated with significant neurological morbidity. Although MCD are rarely diagnosed prenatally, both dedicated multiplanar neurosonography and magnetic resonance imaging enable good demonstration of fetal cortical development. The imaging signs of fetal MCD are: delayed or absent cerebral sulcation; premature abnormal sulci; thin and irregular hemispheric parenchyma; wide abnormal overdeveloped gyri; wide opening of isolated sulci; nodular bulging into the lateral ventricles; cortical clefts; intraparenchymal echogenic nodules; and cortical thickening. The postnatal and prenatal imaging features of four main malformations of cortical development-lissencephaly, cobblestone malformations, periventricular nodular heterotopia, and polymicrogyria-are described.

When Closure Fails: What the Radiologist Needs to Know About the Embryology, Anatomy, and Prenatal Imaging of Ventral Body Wall Defects

Ventral body wall defects (VBWDs) are one of the main categories of human congenital malformations, representing a wide and heterogeneous group of defects sharing a common feature, that is, herniation of one or more viscera through a defect in the anterior body wall. Gastroschisis and omphalocele are the 2 most common congenital VBWDs. Other uncommon anomalies include ectopia cordis and pentalogy of Cantrell, limb-body wall complex, and bladder and cloacal exstrophy. Although VBWDs are associated with multiple abnormalities with distinct embryological origins and that may affect virtually any system organs, at least in relation to anterior body wall defects, they are thought (except for omphalocele) to share a common embryologic mechanism, that is, a failure involving the lateral body wall folds responsible for closing the thoracic, abdominal, and pelvic portions of the ventral body wall during the fourth week of development. Additionally, many of the principles of diagnosis and management are similar for these conditions. Fetal ultrasound (US) in prenatal care allows the diagnosis of most of such defects with subsequent opportunities for parental counseling and optimal perinatal management. Fetal magnetic resonance imaging may be an adjunct to US, providing global and detailed anatomical information, assessing the extent of defects, and also helping to confirm the diagnosis in equivocal cases. Prenatal imaging features of VBWDs may be complex and challenging, often requiring from the radiologist a high level of suspicion and familiarity with the imaging patterns. Because an appropriate management is dependent on an accurate diagnosis and assessment of defects, radiologists should be able to recognize and distinguish between the different VBWDs and their associated anomalies. In this article, we review the relevant embryology of VBWDs to facilitate understanding of the pathologic anatomy and diagnostic imaging approach. Features will be illustrated with prenatal US and magnetic resonance imaging and correlated with postnatal and clinical imaging.

Prenatal diagnosis and prenatal imaging features of fetal monosomy 1p36

Deletion of the distal end of the short arm of chromosome 1 (1p36) is thought to be a common terminal chromosomal deletion. However, few cases prospectively diagnosed prenatally have been reported. In this case, prenatal ultrasound at 21 weeks of gestation noted the fetus to have mild ventriculomegaly (Vhanterior = 11 mm and Vhposterior = 12 mm) and increased nuchal edema (6 mm). Maternal serum alpha-fetoprotein was normal unlike in a majority of previously described cases. The prenatal ultrasound features were further clarified with fetal MRI. Chromosome analysis following amniocentesis demonstrated a 1p36 deletion, which was confirmed by fluorescence in situ hybridization (FISH). The syndrome associated with 1p36 deletion is well described in infants and is characterized by typical facial features (prominent forehead, straight eyebrows. deep-set eyes, flat nasal bridge and a pointed chin). Other associated features are neurodevelopmental delay, seizures, cardiomyopathy and neurosensory hearing impairment. This case supplements our knowledge of the prenatal features of 1p36. Identification of this deletion by direct chromosomal analysis can be technically difficult and vigilance is required to improve diagnosis. FISH analysis is an important diagnostic adjunct where the diagnosis is suspected following classical G-banding techniques. However, in this chromosomal anomaly there remain few characteristic prenatal signs that are readily diagnosed with prenatal imaging.