Prenatal Imaging Research Articles

Abstract TMP23: Fetal Intraparenchymal Hemorrhage In Col4a1/2-related Disorders

Introduction: COL4A1/A2 mutations affecting the alpha 1 and 2 chains of type IV collagen are increasingly recognized as a potential cause of intracranial hemorrhage across the lifespan. We aim to describe fetal MRI findings and clinical outcomes in seven cases of fetal intraparenchymal hemorrhage (IPH) associated with COL4A1/A2 mutations. Methods: Subjects with COL4A1/A2 mutations were identified from a retrospective single-center cohort study of fetal IPH identified on fetal brain MRI between 1998-2021. Imaging findings were reviewed by two pediatric neuroradiologists, and clinical data were collected from electronic medical records. Results: Among the seven subjects with fetal IPH and COL4A1/A2 mutations, fetal MRI was performed at median gestational age (GA) 29 weeks (range 22-36 weeks) and demonstrated supratentorial IPH in 7/7 with variable size of hemorrhage, including 4/7 with multifocal hemorrhage (Figure 1). Four fetuses were liveborn at median GA 39 weeks (range 33-42 weeks); three pregnancies were terminated. Postnatal imaging revealed recurrent IPH in 1/4 cases, but no cases had recurrent IPH after the neonatal period. None of the seven cases had known family history of COL4A1/A2 or IPH; genetic testing revealed 5/7 with COL4A1 mutation, 1/7 with COL4A2 mutation, and 1/7 with 13q34 deletion with associated loss of COL4A1 and COL4A2 genes. Clinical follow-up data was available for the four liveborn cases through ≥12 months; three had mild hemiplegic cerebral palsy and one had severe spastic quadriplegia. None required CSF diversion, none had epilepsy, and one had visual impairment. Conclusions: Our series suggests that COL4A1/A2 mutations can present as fetal IPH with a wide range of phenotypes ranging from unifocal to multifocal IPH without additional systemic involvement, and that prenatal imaging severity may be associated with early clinical outcomes. COL4A1/A2 testing should be considered in all cases of prenatal IPH, regardless of severity.

Fetal Brain Development in Congenital Heart Disease.

Neurodevelopmental impairments are the most common extracardiac morbidities among patients with complex congenital heart disease (CHD) across the lifespan. Robust clinical research in this area has revealed several cardiac, medical, and social factors that can contribute to neurodevelopmental outcome in the context of CHD. Studies using brain magnetic resonance imaging (MRI) have been instrumental in identifying quantitative and qualitative difference in brain structure and maturation in this patient population. Full-term newborns with complex CHD are known to have abnormal microstructural and metabolic brain development with patterns similar to those seen in premature infants at approximately 34 to 36 weeks' gestation. With the advent of fetal brain MRI, these brain abnormalities are now documented as they begin in utero, as early as the third trimester. Importantly, disturbed brain development in utero is now known to be independently associated with neurodevelopmental outcome in early childhood, making the prenatal period an important timeframe for potential interventions. Advances in fetal brain MRI provide a robust imaging tool to use in future neuroprotective clinical trials. The causes of abnormal fetal brain development are multifactorial and include cardiovascular physiology, genetic abnormalities, placental impairment, and other environmental and social factors. This review provides an overview of current knowledge of brain development in the context of CHD, common prenatal imaging tools to evaluate the developing fetal brain in CHD, and known risk factors contributing to brain immaturity.

Fetal agenesis of the septum pellucidum: Ultrasonic diagnosis and clinical significance.

To describe the prenatal ultrasound (US) findings, genetic results, and clinical outcomes of fetuses with suspected agenesis of the septum pellucidum (ASP) in the Chinese population. This retrospective, single-center study included a cohort of fetuses with ASP diagnosed by prenatal imaging over a 10-year period. We evaluated US findings, associated anomalies, genetic results, and clinical outcomes. Prenatal and postnatal imaging findings were compared as well as the clinical outcome of delivery. Ninety patients were included, with a median follow-up time of 36months (1-96months). Thirty-six fetuses (40%) with isolated ASP were diagnosed by prenatal US or magnetic resonance imaging (MRI); 39 cases (43.3%) had ASP with central nervous system malformations and 15 cases (16.6%) had ASP with non-CNS abnormalities. Additional imaging findings were supplemented with prenatal MRI in 13 cases. Genetic tests were performed on 32 patients, of whom six had abnormalities. Prenatal US results of 40 patients (40/70) diagnosed by referral hospitals did not correspond to our findings. Of the 38 patients with postnatal records, 11 had abnormal neurological development. The outcome of an isolated ASP is usually favorable; however, neurological developmental delay is commonly observed if it is combined with other malformations.

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%).

Institutional Evaluation of Fetal Neurology Consults and Postnatal Outcomes: A 10-Year Retrospective Cohort Review.

An increasing number of centers are offering fetal neurology consultation services; however, there is limited information available in overall institutional experiences. Data are lacking on the fetal characteristics, pregnancy course, and the influence of fetal consultation on perinatal outcomes. The aim of this study is to provide insight on the institutional fetal neurology consult process and areas of strengths and weaknesses. We performed a retrospective electronic chart review of fetal consults from April 2, 2009, to August 8, 2019, at Nationwide Children's Hospital. The objectives were to summarize clinical characteristics, agreement of prenatal and postnatal diagnoses based on best available imaging, and postnatal outcomes. Of the 174 maternal-fetal neurology consults placed, 130 qualified for inclusion based on data available for review. Of the 131 anticipated fetuses, 5 experienced fetal demise, 7 underwent elective termination, and 10 died in the postnatal period. The majority were admitted to the neonatal intensive care unit; 34 (31%) required supportive intervention for feeding, breathing, or hydrocephalus, and 10 (8%) experienced seizures during their neonatal intensive care unit (NICU) stay. Imaging results from 113 babies who had prenatal and postnatal imaging of the brain were analyzed based on the primary diagnosis. The most common malformations were as follows (prenatal % vs postnatal %): midline anomalies (37% vs 29%), posterior fossa abnormalities (26% vs 18%), and ventriculomegaly (14% vs 8%). Additional disorders of neuronal migration were not seen on fetal imaging but were present in 9% of the postnatal studies. Analysis of agreement between prenatal and postnatal diagnostic imaging for the 95 babies who had MRIs at both time points found moderate concordance (Cohen kappa: 0.62, 95% CI 0.5-0.73; percent agreement: 69%, 95% CI 60%-78%). Consult recommendations for neonatal blood tests affected postnatal care in 64 of 73 cases in which the infant survived and data were available. Establishing a multidisciplinary fetal clinic can provide timely counseling and create rapport with families to have continuity of care for birth planning and postnatal management. Prognosis based on radiographic prenatal diagnosis requires caution as some neonatal outcomes may vary considerably.

A Compendium on Perinatal Autopsy in Neonats.

Professionals who work in perinatal care must understand the advantages and disadvantages of perinatal autopsy since they are an essential tool for determining fetal and neonatal mortality. Perinatal is the period five months before one month after birth, while prenatal is before birth. The traditional prenatal autopsy is still the gold standard for establishing the cause of death and providing an accurate report, notwithstanding the development of new technology. The ideal locations for a prenatal autopsy are tertiary institutes that offer these procedures. It emphasizes the need for systematic histopathologic sampling, rigorous record-keeping, technological adaptation, and wise laboratory test use. When a laboratory does a microbiologic examination with a focus on the genital tract and neonatal problems, it is very beneficial. Karyotyping needs to be selective and works best when there are many aberrations if resources are to be saved. A perinatal autopsy is insufficient without examining the placenta, and severe lesions should be distinguished from deformities and abnormalities brought on by fetal death. In addition to providing epidemiology teams and auditing committees with high-quality data, the pathologist's role in perinatal medicine also includes participating in the multidisciplinary management of fetal abnormalities identified during pregnancy, monitoring the patterns of iatrogenic disease, and aiding the perinatal grief management process. Investigations into complicated multiple pregnancies, hydrops, bone dysplasias, and unexpected intrauterine fetal deaths provide unique obstacles and diagnostic difficulties. There hasn't been any research that contrasts postmortem computed tomography with postmortem x-rays in pregnant women, as far as we know. Histological analysis of many perinatal autopsies revealed healthy developing tissues. Only a tiny percentage of histological abnormalities can be expected in fetal anomaly terminations. On prenatal imaging, many organ abnormalities are commonly anticipated. A thorough database search was done in Pubmed, Medline, and Scopus using the phrases "fetal abnormalities," "karyotyping," "fetal abnormality," "postmortem," and "perinatal autopsy."

Relevance of Fetal Brain Magnetic Resonance Imaging Compared to Ultrasound for Detecting Cerebral Anomalies in Fetuses with Cleft Lip and/or Palate: A Cohort Study

Introduction: Relevance of fetal brain magnetic resonance imaging (MRI) in cases of cleft lip and/or palate (CL/P) is still discussed to date. The aim of our study was to review the contribution of fetal brain MRI for detecting cerebral anomalies in cases of CL/P comparing antenatal data with neonatal outcomes. Methods: A retrospective multicenter study was conducted from January 2010 to October 2020 in two multidisciplinary prenatal diagnosis centers among women with a fetal ultrasound (US) diagnosis of CL/P. Prenatal imaging and genetic analysis data were collected, as well as postnatal data, including outcomes of children who had an abnormal prenatal MRI. Results: Among the 202 fetuses with a US diagnosis of CL/P, 96 underwent US and fetal brain MRI. 19 brain MRIs were found to be abnormal: 14 (73.7%) involved CL/P associated with other US abnormalities and five (26.3%) involved isolated clefts, of which four were cleft lip and alveolus and secondary palate (CLP). MRI identified severe abnormalities that changed the prognoses of 3 cases of clefts associated with other US abnormalities. In contrast, MRI found only minor abnormalities for the five isolated clefts, with no postnatal disorders found in these children. Conclusion: Fetal brain MRI should be proposed in cases of clefts associated with other anomalies or if US examination is limited by local conditions. MRI could also be discussed in cases of isolated CLP but should not be performed in cases of isolated cleft lip.

Pregnancy and Child Outcomes Following Fetal Intracranial Hemorrhage

BackgroundThe prenatal and early postnatal outcomes of fetal intracranial hemorrhage (ICH) prenatally diagnosed by fetal magnetic resonance imaging (MRI) have not been well described. MethodsA retrospective study of cases with fetal ICH diagnosed by fetal MRI at Children's National Hospital, Washington, DC, from 2012 to 2020 was conducted. Maternal characteristics, prenatal imaging, pregnancy outcome, and child developmental outcomes were recorded. Abnormal outcomes were categorized as mild for required physical/occupational therapy without other delays, moderate for intermediate multidomain developmental delays, and severe if nonambulatory, nonverbal, or intellectual disability. ResultsFifty-seven cases with fetal ICH were included. The mean (S.D.) maternal age was 31.1 (6.9) years, gestational age at fetal evaluation was 28.1 (5.3) weeks, and gestational age at birth was 38.2 (1.3) weeks. Pregnancy outcomes were 75% (n = 43) live birth, 14% (n = 8) termination of pregnancy, and 11% (n = 6) intrauterine demise (IUD). Live births decreased from 90% to 33% and IUD increased 10% to 22% when comparing unilateral intraventricular hemorrhage with more extensive hemorrhages. Among the 37 live-born infants with clinical follow-up to age 1.8 (1.6) years, neurodevelopmental outcome was normal in 57%, mildly abnormal in 24%, moderately abnormal in 14%, and severely abnormal in 5%. In five cases, an etiology was identified: two had placental pathologies, two had genetic findings (fetal neonatal alloimmune thrombocytopenia and COL4A1 mutation), and one had congenital cytomegalovirus infection. ConclusionPerinatal and early child outcomes following fetal ICH have a wide spectrum of outcomes. Fetal MRI description of ICH location may aid in pregnancy and postnatal outcome prediction.

Prenatal exome sequencing versus targeted gene panel for evaluation of fetal congenital heart defects

In children and adults, exome sequencing has a higher diagnostic yield than targeted gene panels for both familial and sporadic congenital heart disease. However, these approaches have not been compared in the prenatal setting. Given differences in cost and insurance coverage, we sought to evaluate the yield of exome sequencing versus targeted gene panels for prenatal diagnosis when a congenital heart defect is present. Retrospective cohort of 44 pregnancies with prenatal ultrasound findings of congenital functional or structural heart defects, either isolated or in combination with other fetal anomalies, for which exome sequencing identified a likely pathogenic (LP) or pathogenic (P) variant thought to be causative of the fetal phenotype. All included cases had normal karyotype and/or microarray. Commercial laboratories offering targeted gene panels for prenatal diagnosis of cardiac disorders were identified using an internet search with the terms: “congenital,” and “cardiac defect,” or “cardiomyopathy,” or “heart defect,” or “heart disease.” We then reviewed each panel to determine if the variants would have been detected if the panels were used. The primary outcome was the proportion of P or LP variants identified through exome sequencing that also would have been identified by targeted gene panels. Nine commercial laboratories were identified that offer prenatal diagnosis for congenital heart disease. Three of the nine laboratories offered two applicable panels with different numbers of genes. There was an average of 140 genes per panel, ranging from 6-398. Targeted panels would have detected 7-52% of the 44 variants detected by exome sequencing. Fourteen P or LP variants (14/44, 32%) identified by exome sequencing would not have been detected by any of the targeted gene panels. Only one genetic variant (CHD7) would have been correctly identified by all laboratories. Following a normal karyotype and/or microarray, exome sequencing confers a diagnostic advantage over targeted gene panels for evaluating congenital heart defects identified on prenatal imaging.

Morphology and Histogenesis of Thymus as a Tool for Estimating Foetal Age: A Cross-sectional Study

Introduction: The thymus is located in the superior mediastinum and anterior part of the inferior mediastinum. It plays a crucial role in the development, differentiation, and clonal expansion of T lymphocytes. In forensic cases involving foetal death, accurate estimation of foetal age is essential. When the foetus is extensively damaged, other organs can be used to estimate age. The thymus, being retrosternal and well-protected, is easily accessible during dissection. Therefore, studying the gross features and histogenesis of the thymus can be helpful in estimating gestational age in cases of severely mutilated foetal specimens. Aim: To examine the morphological features and histogenesis of the thymus in aborted and stillborn foetuses from normal pregnancies. Materials and Methods: A pilot study was conducted using a cross-sectional design at the Department of Anatomy, BLDEDU’s Shri BM Patil Medical College, Vijayapura, Karnataka, India, from May 2016 to April 2018. The dimensions and histogenesis of the thymus were studied in a total of 50 human foetal thymus specimens, collected from normal pregnancies across different gestational age groups ranging from 12 to 40 weeks. The specimens were obtained from the Department of Pathology and the Department of Obstetrics and Gynaecology. The dimensions and weight of the thymus were recorded during autopsy. Slides were prepared, stained with Haematoxylin and Eosin (H&E), and examined under a compound microscope. The histogenesis of the thymus was studied to observe its maturation. Results: Foetal weight increased from 134.6±58.3 g at 12 weeks to 1942±598 g at 40 weeks. The weight of the thymus ranged from 0.2 g at 12 weeks to 5.9 g at 40 weeks. Crown rump length varied from 10.7 cm to 29.9 cm. The length of the thymus measured between 0.5 cm and 3.3 cm, breadth between 0.4 cm and 2.3 cm, and height between 0.2 cm and 0.9 cm from 12 to 40 weeks of gestation. Microscopic features observed in the present study at different gestational ages included a well-formed thick capsule at 17 weeks, lobulation starting at 19 weeks, cortico-medullary differentiation beginning at 17 weeks, appearance of epithelial cells around 19 weeks, and initial appearance of Hassal’s corpuscles at 17 weeks, with more numbers observed later on. Conclusion: The thymus can be used in forensic investigations to estimate the gestational age of mutilated foetuses. It exhibits varying features at different gestational ages, which can aid in thymectomy procedures. Additionally, these findings can be considered during prenatal imaging studies.

Ultrasound Assessment of the Fetal Optic Chiasm.

This article reviews the literature on different methods of prenatal ultrasound visualization of the optic chiasm (OC) and its applications. Prenatal imaging of the OC is feasible from 19 to 37 weeks of gestation. Evaluation of the OC has been shown crucial in differentiating isolated agenesis of the septum pellucidum from septo-optic dysplasia. Multiple methods can be applied for imaging of the OC, including three-dimensional and two-dimensional ultrasounds in different views, as well as color Doppler. According to the literature, both transabdominal and transvaginal routes produce equally acceptable images. OC visualization might be challenging but can be achieved by developing a standard scanning protocol and raising awareness.

Autosomal recessive polycystic kidney disease (ARPKD) in fetus: Autopsy based approach

Polycystic kidney disease is a rare developmental anomaly inherited as Autosomal dominant or recessive. Autosomal recessive polycystic kidney disease (ARPKD) is an intractable cystic renal disease that results in chronic renal failure. It has a profound effect on growing fetus and result in serious implications if pregnancy is continued in the long run after being detected on sonography. Although prenatal imaging studies and clinical findings are suggestive of ARPKD it can be accurately diagnosed by histopathology if an autopsy is performed in cases of infant death. In this article we here in present the features of ARPKD diagnosed antenatally by USG in a 22 yr female, and was confirmed further by fetal autopsy.

Abnormal placenta implantation. Integration between first- and third-trimester imaging in predicting the severity of Placenta Accreta Spectrum (PAS) disorders.

Placenta accreta spectrum (PAS) disorders are pathological conditions correlated to a high risk of adverse maternal surgical outcomes, especially if not diagnosed. In the last 10 years, the literature interest for prenatal diagnosis of PAS disorders has been noticeably greater. More recently, significant progression in prenatal imaging techniques permitted an increase of early identified cases and a more accurate diagnosis of these anomalies, especially in women with multiple risk factors. The aim of this chapter is to give an overhaul on prenatal diagnosis of PAS disorders throughout gestation and to report whether integration between first- and third-trimester ultrasound can predict the development and severity of these anomalies.

Comparison of prenatal ultrasound with MRI in the evaluation and prediction of fetal orofacial clefts

BackgroundOrofacial clefts (OFCs) are common craniofacial abnormalities. This study aimed to compare the diagnostic and predictive values of prenatal ultrasonography (US) and magnetic resonance imaging (MRI).MethodsWe reviewed the newborn physical examinations or fetal autopsy data with OFCs. Between January 2013 and December 2018, the diagnoses resulting from prenatal US and MRI examination were compared retrospectively with the postpartum diagnoses. The diagnostic prediction of prenatal imaging was then determined.Results334 infants were identified with OFCs by either newborn physical exam or stillborn autopsy. For detection of OFCs by US, the total accuracy (ACC), true positive rate (TPR), true negative rate (TNR), positive predictive value (PPV), and negative predictive value (NPV) were 99.9% (111,178/110,286), 81.9% (230/281), 99.9% (109,948/110,005), 80.1% (230/287), and 99.9% (109,948/109,999), respectively. For MRI, the ACC, TPR, TNR, PPV, and NPV were 99.8% (4,125/4,132), 89.8% (44/49), 99.9% (4,081/4,083), 95.7% (44/46), and 99.9% (4,081/4,086), respectively. When we compared the predictive values between prenatal US and MRI, there were significant differences in the PPV of OFCs (P < 0.05), NPV of OFCs (P < 0.05), TPR of CLO (P < 0.001), PPV of CLP (P < 0.05), and TPR of CPO (P < 0.05).ConclusionOur results suggest that prenatal US could be effective for diagnosing and ruling out fetal OFCs. Diagnostic confidence is significantly improved when fetal MRI is used to assess fetal OFCs as an adjunct to US examination.

Prenatal diagnosis and pregnancy outcomes of 149 fetuses with tetralogy of Fallot accompanied by concomitant cardiac and extracardiac anomalies

Objective: We aimed to analyze the pregnancy outcomes of cases that were diagnosed prenatally with tetralogy of Fallot (TOF) and to investigate its prenatal diagnosis, treatment conditions, and postnatal outcomes. Methods: The clinical information data of a total of 149 fetuses diagnosed with TOF (145 cases were singleton and 4 cases were twins) were collected and reviewed retrospectively between January 2016 and January 2022 at İstanbul Kanuni Sultan Süleyman Training and Research Hospital. Results: Among completely 61,034 pregnancies between these years, 149 fetuses were diagnosed with TOF by fetal prenatal ultrasound imaging with the occurrence rate of about 0.24% (149/61,034), and the average gestational age was 26.13 weeks. Among these cases, 22 cases (14.76%, 22/149) opted for termination of pregnancy. Of these 149 fetuses, a total of 60 (46.30%, 60/149) accepted genetic testing and 11 (7.38%, 11/149) revealed chromosomal disorders with trisomy 21 in 5 cases, trisomy 18 in 1 case, 22q11.2 microdeletion syndrome in 4 cases and abnormality of the short arm of 8th chromosome in 1 case. After delivery, 4 cases were diagnosed with trisomy 21. Pregnancy was continued in a total of 127 fetuses, of which 114 cases resulted in delivery. While 36 cases were delivered by cesarean section, the other 78 cases were delivered vaginally. Thirteen fetuses died during the pregnancy period. Newborns who survived the postpartum period were followed up to 5 years of age for surgery. Among 114 cases, 28 cases died during the postnatal period at different times. Conclusion: The diagnosis of TOF is mainly established with the help of fetal ultrasound in the second trimester. A genetic examination is also necessary after prenatal diagnosis and multidisciplinary work is also important between departments. TOF without genetic disorder can be successfully corrected with surgery after birth.

Prenatal phenotyping of fetal tubulinopathies: A multicenter retrospective case series.

Tubulinopathies refer to conditions caused by genetic variants in isotypes of tubulin resulting in defective neuronal migration. Historically, diagnosis was primarily via postnatal imaging. Our objective was to establish the prenatal phenotype/genotype correlations of tubulinopathies identified by fetal imaging. A large, multicenter retrospective case series was performed across nine institutions in the Fetal Sequencing Consortium. Demographics, fetal imaging reports, genetic screening and diagnostic testing results, delivery reports, and neonatal imaging reports were extracted for pregnancies with a confirmed molecular diagnosis of a tubulinopathy. Nineteen pregnancies with a fetal tubulinopathy were identified. The most common prenatal imaging findings were cerebral ventriculomegaly (15/19), cerebellar hypoplasia (13/19), absence of the cavum septum pellucidum (6/19), abnormalities of the corpus callosum (6/19), and microcephaly (3/19). Fetal MRI identified additional central nervous system features that were not appreciated on neurosonogram in eight cases. Single gene variants were reported in TUBA1A (13), TUBB (1), TUBB2A (1), TUBB2B (2), and TUBB3 (2). The presence of ventriculomegaly with cerebellar abnormalities in conjunction with additional prenatal neurosonographic findings warrants additional evaluation for a tubulinopathy. Conclusive diagnosis can be achieved by molecular sequencing, which may assist in coordination, prognostication, and reproductive planning.

Prenatal magnetic resonance imaging of complex female genitourinary system abnormalities, what the fetal medicine specialist needs to know.

Complex female genitourinary system anomalies include a wide spectrum of uncommon pathologies, caused from the abnormal separation of the urorectal septum and the urogenital sinus in early embryonic life. The resulting fusion of the distal urinary, genital and intestinal tracts increases the risk of death in utero and alters the normal organ functionality and the quality of life in survivors. An accurate prenatal identification of these pathologies depends mainly on prior suspicion at ultrasound screening, but also requires a solid knowledge of embryology and familiarity with the different patterns of malformation. Prenatal MRI provides an excellent anatomic evaluation of the fetal anatomy that may improve the diagnosis in complex cases with inconclusive echographic findings. The additional information can help both families and medical teams to better evaluate the severity of the pathology and the postnatal prognosis and therefore to better orientate the management during pregnancy, at delivery and after birth. This review article describes the embryological basis and the clinical findings of the most relevant pathologies included in the spectrum. It also describes the imaging signs on prenatal MRI studies in a series of confirmed cases and proposes a diagnostic algorithm based on imaging findings for guiding prenatal diagnosis.

Placental and Umbilical Cord Anomalies Diagnosed by Two- and Three-Dimensional Ultrasound.

The aim of this review is to present a wide spectrum of placental and umbilical cord pathologies affecting the pregnancy. Placental and umbilical cord anomalies are highly associated with high-risk pregnancies and may jeopardize fetal well-being in utero as well as causing a predisposition towards poor perinatal outcome with increased fetal and neonatal mortality and morbidity. The permanent, computerized perinatology databases of different international centers have been searched and investigated to fulfil the aim of this manuscript. An extended gallery of prenatal imaging with autopsy correlation in specific cases will help to provide readers with a useful iconographic tool and will assist with the understanding and definition of this critical obstetrical and perinatological issue.

Comparison of T2-weighted and diffusion-weighted imaging for the diagnosis of placenta accreta spectrum abnormality.

Diffusion-weighted imaging (DWI) is feasible in prenatal imaging, and it exhibits better contrast between the placenta and the myometrium compared to T2-weighted (T2W) images. To compare magnetic resonance imaging (MRI) features of placenta accreta on T2W and DW imaging. In this retrospective study, 42 pregnant patients who underwent prenatal MRI were included. MRI was performed on a Siemens 1.5-T scanner. T2W and DWI sequences in the axial, sagittal, and/or coronal planes were compiled for review. Two radiologists independently interpreted T2W and DW images for placenta accreta. T2W and DWI scores were calculated based on the presence of features and graded as low, intermediate, and high risk. The association between imaging features and placental invasion on pathology was calculated using chi-square tests. Sensitivity, specificity, and positive and negative predictive values (NPV) were compared between T2W and DWI interpretations. Inter-reader agreement between the two radiologists for T2W and DWI scores was calculated using Cohen's kappa coefficient. Out of 42 pregnant patients, 10 were pathologically/surgically proven to have placenta accreta. There were no significant differences between T2W and DWI interpretations. Considering a cutoff >6 as positive, the T2W score had higher sensitivity (90% vs. 80%) and NPV (96.9% vs. 94.1%) than the DWI score. The specificity and positive predictive value were 100% for both scores. The inter-reader agreement of T2W score was higher (k = 0.943 vs. 0.882). T2W and DWI are comparable in diagnosing placenta accreta spectrum. T2W sequences have higher sensitivity, NPV, and inter-reader agreement than DWI.

Incomplete Renal Duplex System with Lower Moiety Hydroureteronephrosis Due to Aberrant Blood Vessel

Introduction Duplex collecting system is a common congenital urinary system anomaly and is usually asymptomatic. Vascular variations associated with a duplex system are common but haven’t been reported as obstructive. Case report 14-month-old female had a right sided incomplete ureteral duplication complicated by lower pole hydroureteronephrosis due to distal ureteral obstruction by an aberrant vessel crossing the bifid ureters at ureteric junction of these bifid ureters. Prenatal imaging detected right hydronephrosis. Magnetic resonance suggested a diagnosis of duplicated ureters. At surgery, an aberrant artery compressed the lower moiety ureter at the bifid ureteric junction. The stenotic section was resected and ureter segments were anastomosed. The occluding small artery was not resected to preserve vascularization. Discussion/Conclusion An anatomical vascular variation can cause proximal ureteral dilatation and segmental hydronephrosis in a bifid system.