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Background: Neonatal hemochromatosis (NH) is a rare condition that is characterized by severe neonatal liver disease in association with hepatic and extrahepatic excess iron deposition (siderosis), while sparing the reticuloendothelial system. The most common cause of fetal liver injury leading to the NH phenotype (accounting for over 95% of cases) is gestational alloimmune liver disease. This condition is caused by the transfer of maternal IgG antibodies through the placenta, targeting a fetal hepatocyte antigen. Prenatal diagnosis, particularly the identification of iron overload involving both liver and thyroid, is of significant importance and can have a profound impact on patient care. To our knowledge, no case has been reported on prenatal diagnosis of iron overload involving both liver and thyroid. Case presentation: We present an exceptionally rare case of fetal hemochromatosis in a primigravida, a case that significantly contributes to our understanding of this condition. The diagnosis was made with the presence of hepatic and extrahepatic siderosis involving the thyroid using Ultrasonography (USG) and fetal Magnetic Resonance Imaging (MRI) findings. A 23-year-old primigravida was referred to our center in view of oligohydramnios, Intrauterine Growth Restriction (IUGR) and echogenic bowel at 29 weeks of gestation. USG and fetal MRI showed features of coarse liver echotexture and iron overload involving the liver and thyroid; this is the first case describing iron accumulation in the fetal thyroid gland diagnosed in utero. Conclusion: This case underscores the critical importance of performing MRI in suspected cases of fetal hemochromatosis for early diagnosis and intervention, emphasizing the potential to significantly improve patient outcomes. [ABSTRACT FROM AUTHOR]

Caudal regression syndrome is a form of segmental spinal dysgenesis involving the caudal spinal column, ranging from segmental coccygeal agenesis to extensive thoracolumbar agenesis with varying degrees of spinal cord dysgenesis. A majority of caudal regression cases are sporadic but maternal pre-gestational diabetes mellitus is an important risk factor. Imaging is an integral part of management of caudal regression syndrome. Antenatal diagnosis on obstetric ultrasound and evaluation with fetal MRI is ideal. Early postnatal diagnosis and/or detailed evaluation with MRI is essential for early management to improve outcomes. Pang classification categorizes caudal regression syndrome into two categories based on the position of the conus while Renshaw classification is based on the degree of vertebral column agenesis. Caudal regression syndrome may be associated with several additional anomalies, both spinal and extraspinal. A number of genitourinary and gastrointestinal anomalies have been described in association with caudal regression syndrome. The field of view of MRI of the lumbosacral spine in caudal regression syndrome needs to be extended to visualize the retroperitoneal structures without the use of a saturation band. Syndromic associations may be suspected, and additional imaging performed, based on findings of extended field of view MRI of the spine. Associated sacral masses and filar abnormalities need to be identified and may also require surgical treatment. The multisystem nature of this disease necessitates a multimodality approach to the evaluation and management of caudal regression syndrome with close cooperation between pediatric neuroradiologists and body radiologists as well as multiple clinical teams. Appropriate early management with surgical correction as necessary can significantly improve prognosis and survival in caudal regression syndrome. [ABSTRACT FROM AUTHOR]

Deep learning algorithms have demonstrated remarkable potential in clinical diagnostics, particularly in the field of medical imaging. In this study, we investigated the application of deep learning models in early detection of fetal kidney anomalies. To provide an enhanced interpretation of those models' predictions, we proposed an adapted two-class representation and developed a multi-class model interpretation approach for problems with more than two labels and variable hierarchical grouping of labels. Additionally, we employed the explainable AI (XAI) visualization tools Grad-CAM and HiResCAM, to gain insights into model predictions and identify reasons for misclassifications. The study dataset consisted of 969 ultrasound images from unique patients; 646 control images and 323 cases of kidney anomalies, including 259 cases of unilateral urinary tract dilation and 64 cases of unilateral multicystic dysplastic kidney. The best performing model achieved a cross-validated area under the ROC curve of 91.28% ± 0.52%, with an overall accuracy of 84.03% ± 0.76%, sensitivity of 77.39% ± 1.99%, and specificity of 87.35% ± 1.28%. Our findings emphasize the potential of deep learning models in predicting kidney anomalies from limited prenatal ultrasound imagery. The proposed adaptations in model representation and interpretation represent a novel solution to multi-class prediction problems. [ABSTRACT FROM AUTHOR]

Congenital anomalies of the kidney and urinary tract are collectively one of the most commonly diagnosed antenatal conditions. Clinicians have several tools available to diagnose anomalies, including imaging, biomarkers, family history and genetic studies. In certain cases, antenatal interventions such as vesico-amniotic shunting may be considered to improve postnatal outcomes. Congenital kidney anomalies detected antenatally can vary in clinical significance from almost no impact postnatally to significant morbidity and perinatal mortality. Prognosis broadly depends on kidney size, structure and amount of amniotic fluid, alongside genetics and family history, and progression on subsequent scans. It is important to counsel parents appropriately using a parent-focused and personalised approach. The use of a multidisciplinary team should always be considered. [ABSTRACT FROM AUTHOR]

Background: Preeclampsia, a condition very frequently linked to maternal and fetal deaths worldwide, remains a pressing concern due to delays in recognition and response. Effective screening tests for early detection of high-risk cases and appropriate preventive measures are currently lacking. Well planned prenatal care, timely detection, monitoring, and appropriate management are vital to prevent preeclampsia-related fatalities. Methods: This prospective study evaluated the use of shear wave elastography (SWE) in identifying placental structural issues caused by preeclampsia in high-risk pregnancies. A total of 143 high-risk pregnant women with singleton pregnancies and an anterior placental position were included in the study. Results: Women with preeclampsia exhibited significantly elevated SWE values in both center (27.98 ± 16.12 vs. 4.57 ± 6.57 kPa) and peripheral areas of the placenta (29.14 ± 16.12 vs. 4.80 ± 7.70 kPa) when compared to non-preeclampsia women (p = 0.000). Cutoff values of 8.70 kPa and 8.15 kPa at the Center and edge of the placenta respectively, accurately predicted preeclampsia in second-trimester pregnancies, with 84.62% sensitivity and 94% specificity. However no significant difference was observed between elastography values obtained from the center and edge of the placenta. Conclusions: In conclusion, shear wave elastography can help diagnose preeclampsia early by assessing placental stiffness. [ABSTRACT FROM AUTHOR]

Over time, fetal MR neuro-imaging has undergone continuous improvement; presently, it plays a pivotal role in the diagnosis of an expanding array of complex neurological conditions. Within this pictorial essay, our focus will be exclusively directed towards those cutting-edge clinical applications, which currently yield valuable diagnostic insights on a single case basis. Specifically, the pictorial examples will center on some abnormal entities and their features at an earlier fetal stage. [ABSTRACT FROM AUTHOR]

Objective: To investigate the role of MRI in the diagnosis and classification of fetal microtia. Methods: Ninety-five fetuses with suspected microtia based on ultrasound and MRI performed within 1 week were enrolled in this study. The diagnosis based on MRI was compared with postnatal diagnosis. Among the microtia cases suspected on the basis of MRI, mild and severe cases were further classified. In addition, external auditory canal (EAC) atresia was evaluated by MRI in 29 fetuses with a gestational age > 28 weeks, and the accuracy of MRI in the diagnosis and classification of microtia was determined. Results: Of 95 fetuses, 83 were considered to have microtia on the basis of MRI, 81 were confirmed to have microtia, and 14 were found to be normal according to postnatal diagnosis. Among 190 external ears in 95 fetuses, 40 ears were suspected to have mild microtia, and 52 ears were suspected to have severe microtia on the basis of MRI. According to the postnatal diagnosis, mild and severe microtia were confirmed in 43 and 49 ears, respectively. Among the 29 fetuses with a gestational age > 28 weeks, 23 ears were suspected to have EAC atresia according to MRI and 21 ears were ultimately confirmed to have EAC atresia. The accuracy of MRI in diagnosing microtia and EAC atresia was 93.68% and 93.10%, respectively. Conclusion: MRI shows good performance in diagnosing fetal microtia and has the potential to evaluate its severity on the basis of classification and EAC status. Clinical relevance statement: This study was aimed at investigating the role of MRI in the diagnosis and classification of fetal microtia. MRI shows good performance and can help evaluate microtia severity and EAC atresia, thus allowing for better clinical management. Key Points: • MRI is a useful adjunct to prenatal ultrasound. • MRI has a higher accuracy rate than ultrasound in diagnosing fetal microtia. • The accurate classification of fetal microtia and the diagnosis of external auditory canal atresia through MRI may help guide clinical management. [ABSTRACT FROM AUTHOR]

This article discusses a case of prenatal diagnosis of proboscis lateralis, a rare craniofacial anomaly characterized by a soft, finger-like appendage below the forehead. The case involves a 31-year-old woman who was referred for an abnormal appearance of the fetal nose on ultrasound. The prenatal genetic examinations were normal, and the fetus was delivered without complications. The article emphasizes the importance of detailed ultrasound examination and genetic testing in cases of proboscis lateralis, and highlights the need for an interdisciplinary approach to postnatal treatment. [Extracted from the article]

Background: Fetal dedicated echocardiography is the standard to measure the fetal cardiac axis. However, fetal screening ultrasound (US) or fetal dedicated echocardiography may be technically limited. Objective: The purpose of this study was to explore the accuracy of fetal cardiac magnetic resonance imaging (MRI) to measure the cardiac axis in fetuses with congenital heart disease as an adjunct to fetal dedicated echocardiography and to assess the predictive value of fetal cardiac MRI measurements in distinguishing healthy fetuses from fetuses with congenital heart disease. Materials and methods: This is a retrospective study of fetuses referred to our hospital for a fetal cardiac MRI from November 2019 to December 2021. Cardiac axes were measured in the 4-chamber view of the fetal heart using fetal cardiac MRI and dedicated echocardiography, or only using fetal cardiac MRI when screening US was technically limited. The fetuses were divided into a congenital heart disease group and a healthy control group. We used Bland–Altman analysis and the intraclass correlation coefficient (ICC) to assess the agreement of cardiac axis measurements in fetuses with congenital heart disease obtained by cardiac MRI and by fetal dedicated echocardiography. Receiver operating characteristic (ROC) curve analysis of the fetal cardiac axes in the congenital heart disease and healthy fetus groups assessed the predictive value of the cardiac axis measurements. Results: This retrospective study included 431 women (162 carrying fetuses with congenital heart disease, 269 carrying healthy fetuses). Cardiac axes were measured in the 162 fetuses with congenital heart disease using fetal cardiac MRI and dedicated echocardiography. Cardiac axes were measured in the 269 healthy control fetuses using fetal cardiac MRI when fetal screening US was technically limited. The interobserver analysis and intraobserver analysis showed that the cardiac axis measured by fetal cardiac MRI and fetal dedicated echocardiography was repeatable (ICC>0.90). In 162 fetuses with congenital heart disease, Bland–Altman analysis showed a strong agreement between cardiac MRI and fetal dedicated echocardiography measurements for the cardiac axis. The ICC for the cardiac axis values between cardiac MRI and fetal dedicated echocardiography measurements was 0.99. In fetuses with congenital heart disease, 64.2% (104/162) had an abnormal cardiac axis. For the fetal cardiac axis in both the 162 fetuses with congenital heart disease and the 269 healthy fetuses, the area under the ROC curve reached 0.85 (95% confidence interval: 0.80–0.89; P<0.0001). Conclusion: The cardiac axis can be accurately measured using fetal cardiac MRI when fetal dedicated echocardiography/fetal screening US is technically limited. The cardiac axis measurements by fetal cardiac MRI are consistent with known cardiac axis measurements by fetal dedicated echocardiography. The frequency of abnormal cardiac axis depends on the type of congenital heart disease. [ABSTRACT FROM AUTHOR]

Introduction: Routine prenatal screening ultrasounds primarily serve to diagnose major fetal anomalies which may prompt further testing and inform clinical decision-making, including possible pregnancy termination. Meanwhile, expectant parents may view the ultrasound experience and information gained differently from their clinicians. In this setting, how to best counsel patients, especially regarding the increasing findings of indeterminant clinical significance, is unclear. Greater understanding of women's views before undergoing their ultrasound may help to guide anticipatory counseling about the purpose of screening and interpretation of results. Methods: We surveyed 289 patients presenting for scheduled prenatal ultrasounds at an academic tertiary care center. Discrete and open-ended questions assessed views surrounding the receipt of abnormal results and management of the pregnancy once fetal anomalies are detected. Qualitative responses were analyzed using thematic analysis. Results: Most (95%) desired information about abnormal sonographic findings, although only half would consider pregnancy termination for anomalies. Reasons for wanting return of abnormal results included preparedness, valuing knowledge, and to a lesser extent, informing decision-making. When considering potential termination as a result of ultrasound findings, participants' rationales demonstrated deontological (seeing termination as inherently impermissible or permissible), relational (duties arising from the role of being a mother), and consequentialist (weighing harms and benefits) reasoning. Conclusion: This study highlights women's perceptions of prenatal ultrasounds as an inherently valuable source of information and preparedness, beyond their role in informing clinical decision-making. Identifying the ethical constructs underpinning patients' perspectives may help direct development of counseling tools responsive to individual needs and values regarding prenatal ultrasound findings. [ABSTRACT FROM AUTHOR]

Purpose: Fetuses with persistent cloaca are known to develop urine or meconium backflow into the abdominal cavity caused by obstruction of the common channel, thus leading to fetal peritonitis with fetal ascites. We analyzed the impact of prenatal fetal ascites on postnatal clinical features and management.Methods: This retrospective single-center cohort study was conducted to compare the perinatal parameters of patients with isolated persistent cloaca who were born and treated at our hospital between 1991 and 2021. The clinical features and management of those with and without fetal ascites were compared.Results: Among the 17 eligible patients, fetal ascites were recognized in seven. The occurrence of fetal ascites was significantly related to preterm birth, higher birth weight z-score, birth via emergency cesarean delivery, low Apgar scores at 1 min and 5 min, higher C-reactive protein levels at birth, longer duration of oxygen administration, the need for a urinary drainage catheter at initial discharge, and shorter neonatal hospital stays.Conclusions: The postnatal management of patients with persistent cloaca with fetal ascites differed significantly from that of patients without fetal ascites. For patients with unexplained fetal ascites, magnetic resonance imaging may be helpful for determining the definite diagnosis of persistent cloaca. [ABSTRACT FROM AUTHOR]

We report the prenatal diagnosis of Poretti-Boltshauser Syndrome (PBS) in a 36-year-old primigravida woman. At 22 weeks and 6 days of gestation, fetal ultrasound revealed a normally shaped but hyperechogenic cerebellum with all supratentorial structures appearing normal. Differential diagnosis included cavernous hemangioma, capillary telangiectasia, and cerebellar hemorrhage. Subsequent fetal cerebral MRI showed diffuse bilateral cerebellar modifications, reduced cranio-caudal diameter of the vermis, and pathological elongation and thickening of the superior cerebellar peduncles indicative of the molar tooth sign. Amniocentesis and whole exome sequencing identified two heterozygous truncating variants in the LAMA1 gene: c.3099G > A (p.Trp1033Ter) and c.3699T > A (p.Tyr1233Ter), confirming PBS.) Following the diagnosis, the pregnancy was terminated at 23 weeks and 5 days. Post-mortem examination supported the MRI findings consistent with PBS. This case highlights the importance of integrating ultrasound, MRI, and genetic analysis for accurate prenatal diagnosis and emphasizes the molecular diversity associated with PBS, including the presence of molar tooth sign mimics and a novel c.3699T > A variant. [ABSTRACT FROM AUTHOR]

Vascular anomalies develop during fetal life and can be detected on prenatal ultrasonography and fetal magnetic resonance imaging. Diagnosis of lymphatic, venous, and arteriovenous malformations, as well as congenital hemangiomas and other congenital vascular tumors, may be challenging. The benign vascular anomalies may be difficult to differentiate from malignancies with a similar appearance. In this manuscript, we present a succinct overview of the congenital vascular anomalies that may present in fetal or neonatal life. [ABSTRACT FROM AUTHOR]

Fetal MRI and neonatal MRI of the central nervous system (CNS) are complementary tools that can help to accurately counsel and direct the management of children with anomalies of the central nervous system. Postnatal MRI can add to fetal MRI by allowing for monitoring of changes in the severity of disease, better delineation of a suspected prenatal anomaly, evaluation for secondary pathologies related to the primary diagnosis, and surgical management direction. In this review we discuss the roles of fetal and neonatal MRI in the diagnosis and treatment of congenital anomalies of the CNS through a series of case examples and how both are important in patient management. [ABSTRACT FROM AUTHOR]

Purpose: We aimed to present the fetal ultrasound, cytogenetic/molecular testing and postmortem or postnatal clinical findings of cases with 22q11.2DS diagnosed prenatally. Materials and methods: A retrospective medical record review of 48 prenatal cases diagnosed with 22q11.2DS were evaluated in our institution. Detailed ultrasound examination was performed on all fetuses. Postmortem and postnatal examinations were evaluated. The microdeletions were detected by karyotyping or microarray, then confirmed by FISH. Descriptive statistical analysis was performed. Results: Demographic data of 48 prenatal cases including 46 singletons and 1 dichorionic diamniotic twin pregnancy were evaluated. The most common extracardiac anomaly was skeletal system anomalies (25%), in which PEV was the most frequent one (20.8%). Polyhydramnios rate was detected as 31%, in 6.6% as an isolated finding. Microdeletion has been detected by karyotyping in 13 cases (13/47, 27.7%) (including 2 unbalanced translocations), by FISH in 28 cases (28/48, 58.3%), by microarray/a-CGH testing in 7 cases. Microarray analysis showed that in one case with unbalanced translocation had two consecutive deletions; one was proximal and other one distal to critical region and not encompassing TBX1 gene but CRKL and LZTR1 genes. Conclusion: The current study demonstrates the whole spectrum of atypical phenotypic and genotypic variations of 22q11.2DS in the largest prenatal case series reported to date. Therefore, differential diagnosis should be considered not solely in CHD, but also in the presence of isolated clubfeet and polyhydramnios. Establishing the diagnosis in the prenatal period may allow a postnatal multidisciplinary approach, as well as affect the actual prevalence of the disease. [ABSTRACT FROM AUTHOR]

Purpose: To analyze anatomic features and associated malformations in 37 prenatally detected cases of congenitally corrected transposition of the great arteries (ccTGA) and to evaluate the prenatal course, neonatal outcome and mid-term follow-up.Methods: Retrospective analysis of prenatal ultrasound of 37 patients with ccTGA in two tertiary centers between 1999 and 2019. All fetuses received fetal echocardiography and a detailed anomaly scan. Postnatal outcome and follow-up data were retrieved from pediatric reports.Results: Isolated ccTGA without associated cardiac anomalies was found in 13.5% (5/37), in all other fetuses additional defects such as VSD (73.0%), pulmonary obstruction (35.1%), tricuspid valve anomalies (18.9%), aortic arch anomalies (13.5%), ventricular hypoplasia (5.4%) or atrioventricular block (5.4%) were present. The rate of extracardiac malformations or chromosomal aberrations was low. There were 91.9% (34/37) live births and postnatal survival rates reached 91.2% in a mean follow-up time of 4.98 years. The prenatal diagnosis of ccTGA was confirmed postnatally in all but one documented live birth and the prenatal counselling regarding the expected treatment after birth (uni- versus biventricular repair) was reassured in the majority of cases. The postnatal intervention rate was high, 64.7% (22/34) received surgery, the intervention-free survival was 36.7%, 35.0% and 25.0% at 1 month, 1 year and 10 years, respectively.Conclusions: ccTGA is a rare heart defect often associated with additional heterogeneous cardiac anomalies that can be diagnosed prenatally. The presented study demonstrates a favorable outcome in most cases but the majority of patients require surgical treatment early in life. [ABSTRACT FROM AUTHOR]

Purpose: Fetal arthrogryposis multiplex congenita (AMC) describes a heterogeneous disease entity characterized by multiple contractures affecting at least two different body areas. The aim of our study was to identify additional sonographic abnormalities in fetuses with AMC Type I–III associated with an unfavorable prognosis and to describe when those signs were first detected. Methods: This retrospective study included 41 pregnancies of suspected AMC diagnosed 1999–2017 at our tertiary referral center. The affected pregnancies were divided into the 3 AMC subgroups; the time of detection and outcome were analyzed. Prenatal sonograms, pediatric charts, genetic tests, and autopsy reports were studied. Results: Pregnancy outcome data were verifiable in 34 out of 41 cases; in 27 cases, AMC was confirmed. Hydrops was present in 50% of postnatally deceased fetuses, 53% of cases resulting in termination of pregnancy vs. 0% of the surviving 8 children. Absent stomach filling was found in 67% of the children with neonatal death. After subcategorization, the limb-involvement-only-group, 8% showed hydrops vs. 100% in system anomaly group vs. 70% in neuromuscular dysfunction cohort (p = 0.001). Scoliosis, nuchal edema, and absent stomach filling were significantly indicating for a neurological etiology. Conclusion: In addition to disease-defining sonographic findings, those with prognostic significance were identified. Hydrops, nuchal edema, scoliosis and absent stomach filling were associated with unfavorable outcomes implicating a neuromuscular etiology. This knowledge can help to predict the further course of the disease and support patient counseling. [ABSTRACT FROM AUTHOR]

Background: Congenital pyloric atresia (CPA) is a rare gastrointestinal anomaly frequently associated with epidermolysis bullosa (EB). Although the complications of familial isolated CPA are minor, delays in diagnosis can increase the chances of morbidity. Case presentation: Three female infants born to a Japanese mother presented with CPA at birth. There was no consanguinity between the parents, and the spacing between pregnancies was 2 years in each case. All 3 siblings had a prenatal diagnosis of CPA owing to polyhydramnios and a dilated stomach, without dilatation of the rest of the gastrointestinal tract. All patients underwent reconstructive surgeries for establishing bowel continuity (Case 1, pyloromyotomy; Case 2, gastroduodenostomy in a diamond fashion; and Case 3, gastroduodenostomy in a side-to-side fashion) soon after birth. Their postoperative courses were uneventful, and they grew up healthily, without any complications. Conclusion: Fetal ultrasonography is useful for diagnosing CPA prenatally. Successful prenatal diagnosis can lead to timely intervention after birth. [ABSTRACT FROM AUTHOR]

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

A new task force dedicated to prenatal imaging was created in 2018 by the European Society of Pediatric Radiology. In order to establish a network of European prenatal imaging practice, we sent a questionnaire to radiologists practicing prenatal imaging in Europe. The questions were related to the type of institution, the local legislation for termination of pregnancy, the type of imaging modality and the following items regarding magnetic resonance imaging (MRI): magnetic field, gestational age at which it is performed, use of maternal sedation, number of examinations per year, proportion of cerebral versus body indications and proportion of repeated examinations. We collected responses from 20 European countries, 52 cities and 67 institutions (82% public). In most countries, the upper gestational age limit for termination of pregnancy is 24 weeks of gestation. In some countries, it is earlier and in other countries, there is no limit. Very few radiologists practice fetal ultrasonography and computed tomography. In some countries, fetal MRI is mainly performed before 24 weeks of pregnancy, while in others, it is mainly performed in the third trimester. Neurological indications are by far predominant and 30% of the institutions have access to a 3-tesla (T) unit for fetal MRI. Maternal sedation is rarely used. The number of scans per year is highly variable with an average of 140, which is not necessarily correlated to the size of the population. [ABSTRACT FROM AUTHOR]

Objective: The definition of new normal values of the corpus callosum (CC) in axial sonographic scans and evaluation of their feasibility in diagnosing abnormal CC. Methods: A cross-sectional study assessed CC from 20-gestational-week to full-term. CC observations across three axial planes (the largest CC length plane, trans-genu-and-splenium plane, and trans-body plane) were developed. The largest CC length, genu and splenium thickness, and body width and thickness were compared with compound scatter plots. Ultrasonographic features of normal and abnormal CC were described and the feasibility of the new approach studied. Intra-class correlation coefficient (ICC) was used for assessing the intra- and inter-observer agreements. Results: Six hundred seventy normal and 42 abnormal fetuses from 20-gestational-week to full-term were studied. The mean normal and abnormal group maternal ages were 30.46 ± 4.36 years and 29.69 ± 4.49 years (p = 0.269). The success rate in obtaining satisfactory axial planes reached 100% but only 13.9% for sagittal plane in the normal group. The success rate of abnormal cases obtaining satisfactory axial planes was 100% and 59.5% by sagittal plane (p < 0.05). The compound scatter plots of abnormal and normal groups showed that the largest CC length and body width were significantly lower in normal fetuses, and the thickness of the genu and splenium with CC hypoplasia was significantly lower than normal fetuses. The intra- and inter-observer agreements were reproducible (all ICC > 0.850). Conclusions: The feasibility of incorporating an evaluation of CC into routine anatomical screening was demonstrated. Additionally, a focused examination of the craniocerebral axial planes exploring CC at the time of central nervous system scanning might facilitate CC anomaly detection. Key Points: • Three axial planes with direct CC measurements can detect CC anomalies more accurately compared with indirect CC signs. Besides, this method is simpler, more convenient, and time-saving compared with the sagittal plane. • Assessing fetal CC on the axial plane helps clinicians to diagnose fetuses with abnormal CC. • A prospective single-center study showed that our new technique provides enough diagnostic confidence. [ABSTRACT FROM AUTHOR]

Background: Gallbladder duplication is a rare anatomic anomaly characterized by the presence of an accessory gallbladder.Objective: To appraise the prevalence and significance of prenatal diagnosis of duplication of gallbladder in a multicenter study.Methods: This was a multicenter case series with literature review. Clinical records of all consecutive pregnant women with a prenatal diagnosis of duplication of gallbladder, who were referred to our Centers were included in this study. The diagnosis of duplication of gallbladder was based on the evidence of double gallbladder in the standard abdominal circumference plane using grey scale. Postnatal magnetic resonance cholangiopancreatography (MRCP) 3D and postnatal neonatal abdominal ultrasound scan were offered soon after birth to confirm the diagnosis of double gallbladder. The systematic review was conducted using electronic databases from inception of each database through December 2019.Results: Five studies, including a total of seven cases, were identified as relevant and included in the systematic review. Gestational age at diagnosis ranged from 20 to 32 weeks of gestation. Associated findings were reported in only one case, where the fetus presented with a left-sided gallbladder, and bilateral renal agenesis with Potter sequence. None of the included cases reported abnormal karyotype. Our cases series included nine cases (0.03%) of double gallbladder with postnatal confirmation, with an overall incidence of this anomaly of 0.03%.Associated findings were reported in only two cases, one with IUGR and omphalocele, that opted for I-TOP, and one with single umbilical artery. Except for the I-TOP, neonatal outcome was favorable in all cases.Conclusions: Duplication of the gallbladder is a very rare malformation with only seven cases reported in the literature diagnosed prenatally. This anomaly is not associated with abnormal karyotype, and the neonatal outcome is favorable if there are no other associated abnormalities. [ABSTRACT FROM AUTHOR]

Background: Despite the well-known second trimester ultrasound signs, current possibilities of in utero surgical repair of open spina bifida require a timely detection of the spine defect.Objective: To evaluate the diagnostic accuracy of the ratio between brain stem (BS) diameter and its distance to the occipital bone (BSOB) (BS/BSOB ratio) in the detection of fetuses with open spina bifida at first trimester ultrasound.Methods: A systematic review and meta-analysis of diagnostic accuracy was performed by searching seven electronic databases from their inception to February 2019 for all studies assessing the association between BS/BSOB ratio and diagnosis of spine bifida. Diagnostic accuracy of BS/BSOB ratio in prenatal diagnosis of spine bifida was assessed as sensitivity, specificity, positive and negative likelihood ratios (LR + and LR-), and area under the curve (AUC) on SROC curves.Results: Four studies, including 17,598 fetuses with 23 cases of open spina bifida, were included in the meta-analysis. BS/BSOB ratio showed pooled sensitivity of 0.70 (95% CI 0.47-0.87; I2 = 78.3%), specificity of 1.00 (95% CI 0.99-1.0; I2 = 99.2%), LR + and LR- of 51.44 (95% CI 9.53-277.64; I2 = 85.5%) and 0.23 (95% CI 0.04-1.17; I2 = 64.8%), respectively, and an AUC of 0.9649.Conclusion: First trimester BS/BSOB ratio has a high diagnostic accuracy in detecting fetuses with open spina bifida. [ABSTRACT FROM AUTHOR]

Purpose: To determine if texture analysis can differentiate placenta accreta spectrum (PAS) from normal placenta on MRI. Methods: We performed retrospective image analysis of 80 patients, comprised of 46 patients with PAS and 34 patients without PAS. Histopathology was used as the reference standard. Sagittal single shot fast spin echo T2-weighted MRI sequences acquired from a single institution were analyzed. Placental heterogeneity was quantified using in-house software on a Matlab platform, including the standard deviation of pixel intensity, coefficient of variation, gray-level co-occurrence matrices (GLCM), histogram-oriented gradients (HOG), and fractal analysis with box sizes from 2 to 512. Two-tailed unpaired Student's t test was used with statistical significance of p < 0.05. Results: PAS was associated with higher values for standard deviation of pixel intensity and fractal analysis at every box size. Fractal analysis at box sizes 256 (p = 0.011) and 32 (p = 0.021), and standard deviation of pixel intensity (p = 0.023) were the most statistically significant. Fractal values at box size 256 for PAS was 0.13 versus 0.090 for patients without PAS, while standard deviation of pixel intensity was 3.7 for PAS versus 2.5 for patients without PAS. No statistically significant association between PAS and GLCM, coefficient of variation, and HOG was found. Conclusion: Statistically significant differences were found between normal and abnormal groups using standard deviation of pixel intensity and fractal analysis. [ABSTRACT FROM AUTHOR]

Purpose: To evaluate differences in diagnostic yield of intra-uterine foetal (iuMR) and post-mortem MRI (PMMR) for complex brain malformations, using autopsy as the reference standard. Methods: In this retrospective, multicentre study spanning 2 years, we reviewed 13 terminated singleton pregnancies with a prenatal ultrasound finding of complex foetal cerebral abnormalities, referred for both iuMR and PMMR. The iuMR and PMMR studies of the brain were reported independently by two groups of radiologists, blinded to each other's reports. Descriptive statistics were used to compare differences in intracranial abnormalities with autopsy (and genetic testing, where present) as reference standard. Results: The median gestational age at termination was 24.6 weeks (IQR 22–29) with median time between delivery and PMMR of 133 h (IQR 101–165). There was full concordance between iuMR and PMMR findings and autopsy in 2/13 (15.3%) cases. Partial concordance between both imaging modalities was present in 6/13 (46.2%) and total discordance in the remainder (5/13, 38.5%). When compared to autopsy, PMMR missed important key findings specifically for neuronal migration and cerebellar anomalies, whereas iuMR appeared to overcall CSF space abnormalities which were less crucial to reaching the final overall diagnosis. Conclusions: iuMR should be performed to improve foetal phenotyping where there is a prenatal ultrasound for complex foetal brain abnormalities. Reliance on PMMR alone is likely to result in misdiagnosis in a majority of cases. [ABSTRACT FROM AUTHOR]

Objectives: To investigate the feasibility of fetal phase-contrast (PC)-MR angiography of the descending aorta (AoD) using an MR-compatible Doppler ultrasound sensor (DUS) for fetal cardiac gating and to compare velocimetry with Doppler ultrasound measurements.Methods: In this prospective study, 2D PC-MR angiography was performed in 12 human fetuses (mean gestational age 32.8 weeks) using an MR-compatible DUS for gating of the fetal heart at 1.5 T. Peak flow velocities in the fetal AoD were compared with Doppler ultrasound measurements performed on the same day. Reproducibility of PC-MR measurements was tested by repeated PC-MR in five fetuses.Results: Dynamic PC-MR angiography in the AoD was successfully performed in all fetuses using the DUS, with an average fetal heart rate of 140 bpm (range 129-163). Time-velocity curves revealed typical arterial blood flow patterns. PC-MR mean flow velocity and mean flux were 21.2 cm/s (range 8.6-36.8) and 8.4 ml/s (range 3.2-14.6), respectively. A positive association between PC-MR mean flux and stroke volume with gestational age was obtained (r = 0.66, p = 0.02 and r = 0.63, p = 0.03). PC-MR and Doppler ultrasound peak velocities revealed a highly significant correlation (r = 0.8, p < 0.002). Peak velocities were lower for PC-MR with 69.1 cm/s (range 39-125) compared with 96.7 cm/s (range 60-142) for Doppler ultrasound (p < 0.001). Reproducibility of PC-MR was high (p > 0.05).Conclusion: The MR-compatible DUS for fetal cardiac gating allows for PC-MR angiography in the fetal AoD. Comparison with Doppler ultrasound revealed a highly significant correlation of peak velocities with underestimation of PC-MR velocities. This new technique for direct fetal cardiac gating indicates the potential of PC-MR angiography for assessing fetal hemodynamics.Key Points: • The developed MR-compatible Doppler ultrasound sensor allows direct fetal cardiac gating and can be used for prenatal dynamic cardiovascular MRI. • The MR-compatible Doppler ultrasound sensor was successfully applied to perform intrauterine phase-contrast MR angiography of the fetal aorta, which revealed a highly significant correlation with Doppler ultrasound measurements. • As fetal flow hemodynamics is an important parameter in the diagnosis and management of fetal pathologies, fetal phase-contrast MR angiography may offer an alternative imaging method in addition to Doppler ultrasound and develop as a second line tool in the evaluation of fetal flow hemodynamics. [ABSTRACT FROM AUTHOR]

Purpose: Alterations in renal dimensions may be an early manifestation of deviation from normality, with possible repercussions beyond intrauterine life. The objective of this study was to establish reference curves for fetal kidney dimensions and volume from 14 to 40 weeks of gestation.Methods: This is a prospective longitudinal study of 115 Brazilian participants in the "WHO multicentre study for the development of growth standards from fetal life to childhood: the fetal component". Pregnant women with clinical and sociodemographic characteristics allowing the full potential fetal growth were followed up from the first trimester until delivery. These women underwent serial sonographic evaluation of fetal kidneys. The longitudinal, anteroposterior and transverse diameters of both fetal kidneys were measured, in addition to calculation of kidney volume. By quantile regression analysis, reference curves of renal measurements related to gestational age were built.Results: Standard normal sonographic values of renal biometry were defined during pregnancy. Reference values for the 10th, 50th and 90th centiles of different fetal kidney measurements (longitudinal, anteroposterior, transverse and volume) from the 14th to the 40th week of gestation were fitted.Conclusion: The reference curves presented should be of the utmost importance for screening and diagnosis of alterations in renal development during the intrauterine period. [ABSTRACT FROM AUTHOR]

Background: At fetal MR, congenital lung lesions are usually T2 hyperintense with respect to normal lung parenchyma. Some lesions, however, demonstrate unusual patterns of T2 hypointensity, sometimes in a rosette-like pattern. These lesions usually present a diagnostic conundrum.Objective: To evaluate the imaging findings and pathological characterization of fetal solid lung lesions with elements showing T2-hypointense signal with respect to lung.Materials and Methods: This is a retrospective study of lung lesions with elements showing T2 hypointensity treated prenatally and postnatally at our center and with available pathological evaluation. Prenatal imaging evaluation included US and MR; postnatal evaluation consisted of pathological examination of the lesion. We also performed prenatal and postnatal chart review.Results: Six cases met study criteria. Areas of decreased echogenicity/T2-hypointense signal were more conspicuous at MR than US. At pathology, these areas correlated with immature parenchymal development and increased mesenchymal tissue. Five of these lesions were congenital pulmonary airway malformations (CPAM); one was a congenital peribronchial myofibroblastic tumor (CPMT). The lesions did not significantly change in size after steroid administration. They were all large in volume and were associated with increased amniotic fluid. All cases of CPAM underwent premature delivery (one of them weeks after fetal surgical resection of the lesion for worsening hydrops); the fetus with CPMT was delivered at term. The neonate with CPMT succumbed shortly after birth secondary to lung hypoplasia; the remaining five neonates survived.Conclusion: The differential diagnoses of prenatal lung lesions that contain unusual T2-hypointense elements include CPAM and CPMT. The T2-hypointense areas appear to correlate with increasing degree of immaturity at histology. None of the lesions significantly changed in size after prenatal administration of steroids. All cases with CPAM lesions did well despite persistent polyhydramnios and premature birth. The single case of CPMT, however, resulted in neonatal demise shortly after birth secondary to pulmonary hypoplasia. It is important that fetal radiologists, obstetricians and fetal surgeons alike are aware of these lesions so that appropriate diagnosing and parental counseling can be reached. [ABSTRACT FROM AUTHOR]

Purpose: To assess fetal central nervous system (CNS) abnormalities presenting as major findings leading to late termination of pregnancy (late TOP) performed ≥ 24 weeks' gestation.Method: The study population included 2789 pregnant women that underwent late TOP in our institute between the years 1998 and 2015.Results: Fifty-seven cases (2.0%) underwent late TOP because of fetal CNS indications and are the subjects of the current study. Those cases were subdivided into four categories (1) no routine prenatal screening with an incidental finding discovered ≥ 24 weeks' gestation (25 patients, 43.8%); (2) developmental or acquired findings detected during late second and third trimester (22 patients, 38.6%); (3) apparently normal routine screening with abnormal findings that could have been detected earlier (six patients, 10.6%); (4) routine prenatal care raised suspicion of abnormalities, and the final diagnosis was established only following additional tests (four patients, 7.0%).Conclusions: Combining the two categories of CNS abnormalities, i.e., pregnant women who did not undergo any fetal evaluation (group 1) and those that could have been detected earlier (group 3) consists 54% from our cohort in which late TOP could have been avoided. On contrary, 39% fetuses from our study population had CNS developmental findings which could be detected only at advanced stage of gestation. [ABSTRACT FROM AUTHOR]

We have defined a psychological intervention based on cognitive narrative therapy and the Ottawa decision framework to reduce adjustment problems following a termination of pregnancy (TOP) after a positive prenatal diagnosis (PND). The intervention is composed of four sessions: decision, subjectivation, metaphorization, and projecting. This study aims to assess the effectiveness of a cognitive narrative intervention to prevent depression and anxiety symptoms after TOP. The intervention was accepted by 24 participants. The outcome is compared with a control group of 67 women who also terminated a pregnancy after PND. Participants were from several Portuguese institutions; 64.4% had a genetic and 35.6% had ultrasound diagnosis; the mean age was 30.0 years and the mean gestational age was 19 weeks. There are two evaluations: a baseline at the 15th day and a sixth month follow-up after TOP, using Beck Depression Inventory, Zung Anxiety Scale, Perinatal Grief Scale, and an instrument capturing participant satisfaction. Six months after TOP, there is a lower mean of anxiety and depression (p < 0.05), between groups, with effect sizes on the follow-up of 0.54 for depression, 0.41 for anxiety, and 0.23 for perinatal grief. This intervention has very positive effects on women mental health, and we emphasize the importance of the meaning-making process in the context of terminating a wanted pregnancy. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the impact of genetic counseling (GC) during the third trimester by analyzing changes in pregnancy management and the correlation with postnatal findings.Methods: This was a retrospective study. Pregnancy course and neonatal follow-up were analyzed according to the reason for referral and implementation of recommendations.Results: The records of neonates born to 181 women were retrieved. Fifty-two women (group 1-29%) qualified for pregnancy termination under Israeli guidelines and laws, and 129 (group 2-71%) were not at the time they were referred. By another division: 104 women (group 3-57%) followed the physician's diagnostic recommendations completely after counseling including amniocentesis, fetal MRI, targeted ultrasound scans, fetal echocardiography. Seventy-seven declined amniocentesis (group 4-43%). Additional abnormalities were detected postpartum in all groups without statistically difference: 3/52 (10%) in group 1, 9/129 (7%) in group 2, 6/104 (6%) in group 3, and 6/77 (8%) in group 4).Conclusion: GC in the third trimester of pregnancy provided the couple with a sharper more focused picture and assisted them to perceive the significance of new, significant fetal findings which attest to the value of the GC. [ABSTRACT FROM AUTHOR]

In this article I investigate the ways in which phenomenology could guide our views on the rights and/or wrongs of abortion. To my knowledge very few phenomenologists have directed their attention toward this issue, although quite a few have strived to better understand and articulate the strongly related themes of pregnancy and birth, most often in the context of feminist philosophy. After introducing the ethical and political contemporary debate concerning abortion, I introduce phenomenology in the context of medicine and the way phenomenologists have understood the human body to be lived and experienced by its owner. I then turn to the issue of pregnancy and discuss how the embryo or foetus could appear for us, particularly from the perspective of the pregnant woman, and what such showing up may mean from an ethical perspective. The way medical technology has changed the experience of pregnancy-for the pregnant woman as well as for the father and/or other close ones-is discussed, particularly the implementation of early obstetric ultra-sound screening and blood tests (NIPT) for Down's syndrome and other medical defects. I conclude the article by suggesting that phenomenology can help us to negotiate an upper time limit for legal abortion and, also, provide ways to determine what embryo-foetus defects to look for and in which cases these should be looked upon as good reasons for performing an abortion. [ABSTRACT FROM AUTHOR]

We analyzed the characteristics of the population with congenital portosystemic shunt diagnosed during the antenatal period and the organization of their perinatal care. This multicentric retrospective study included all the patients with a prenatal diagnosis of congenital portosystemic shunt. Between 1999 and 2015, 12 patients were included. Prenatal diagnosis was done at a median 26.5 weeks of gestation (21-34). All the patients presented intrahepatic CPSS, three of them had associated congenital cardiopathy, and one a Bannayan-Zonana syndrome. Ten patients had simple outcome on conservative treatment, eight of them having a spontaneous closure of their portosystemic shunt within the first 2 years of life. One patient had surgical treatment which failed and he developed a focal nodular hyperplasia. Another patient had radiological interventional closure of his shunt which was complicated by a venal portal thrombosis.Conclusion: Outcome of intrahepatic portosystemic shunt diagnosed prenatally is good in the majority of cases. What is known: • Multiples studies exist on congenital porto systemic shunt but when the diagnosis is done after birth. • The evolution, management, and complication are well known. What is new: • There is very few studies with only patients diagnosed in antenatal and it is a large series of cases. • Outcome of intrahepatic portosystemic shunt diagnosed prenatally is good in the majority of cases. [ABSTRACT FROM AUTHOR]

Purpose: First trimester risk assessment plays a major role in the contemporary pregnancy care. It has evolved significantly since its introduction in the 1990s when it essentially consisted of just the nuchal translucency measurement. Today, it involves the measurement of several biophysical and biochemical markers and can assess the risk for a wide array of major chromosomal and non-chromosomal defects as well as other pregnancy-related complications.Methods: A search of the Medline and Embase databases was done looking for articles about first trimester screening. We performed a detailed review of the literature to evaluate the screening tests currently available and their respective test performance.Results: The detailed ultrasound examination results in the detection of about half of major structural defects, determination of a very accurate gestational age, and identification of multiple pregnancies as well as their chorionicity. In addition, risk assessment for preeclampsia and early IUGR can be established at this stage. In case of an increased risk, the daily use of low-dose aspirin can be offered at a point in pregnancy when it still can have a positive impact. Additional screening tests for gestational diabetes and macrosomia are available.Conclusion: Contemporary first trimester screening is essential to establish an individual risk profile and can be used to tailor the pregnancy care. [ABSTRACT FROM AUTHOR]

Purpose: This study sought to evaluate the fetal echocardiography features of isolated right aortic arch (RAA) with mirror-image branching and to improve the rate and accuracy of prenatal diagnosis of this condition.Methods: We reviewed fetal echocardiograms from all cases of isolated RAA with mirror-image branching diagnosed at our institution between August 2012 and December 2015 and classified these cases into normal and abnormal types of ductus arteriosus based on the course of the arterial duct arch. We confirmed the diagnoses by postnatal echocardiography.Results: A total of 11 cases of isolated RAA with mirror-image branching, with the left ductus and the descending aorta located on the left side of the spine, were diagnosed using fetal echocardiography. Ten cases involved normal ductus arteriosus, with the left ductus connecting the left pulmonary artery to the descending aorta, five of which were referred to our institution for suspicions of double aortic aorta. 1 case involved abnormal ductus arteriosus, with the left ductus connecting the left pulmonary artery to the left innominate artery.Conclusions: RAA with mirror-image branching can be detected via fetal echocardiography, which can reveal the relationship between of the aortic arch and the trachea and can enable the identification of the course of brachiocephalic branching. The identification of isolated RAA with mirror-image branching is crucial for distinguishing this condition from other types of aortic arch anomalies, particularly double aortic aorta, which can have a rather different prognosis. [ABSTRACT FROM AUTHOR]

Purpose: To investigate the sonographic and clinical genotype-phenotype correlations in autosomal recessive polycystic kidney disease (ARPKD) and other cystic kidney diseases (CKD) in a large cohort of prenatally detected fetuses with hereditary CKD.Methods: We retrospectively studied the clinical and diagnostic data of 398 patients referred with prenatal ultrasound findings suggestive of CKD between 1994 and 2010. Cases with confirmed hereditary CKD (n = 130) were analyzed as to their prenatal ultrasound findings, genotype, and possible predictors of clinical outcome.Results: ARPKD was most common in our non-representative sample. Truncating PKHD1 mutations led to a significantly reduced neonatal prognosis, with two such mutations being invariably lethal. Sonographically visible kidney cysts occurred in only 3% of ARPKD cases. Renal abnormalities in Meckel syndrome (MKS) appeared earlier than in ADPKD (19.6 ± 3.7 vs. 29.8 ± 5.1 GW) or ARPKD (19.6 ± 3.7 vs. 30.2 ± 1.2 GW). Additional CNS malformations were not found in ARPKD, but were highly sensitive for MKS. Pulmonary hypoplasia, oligo/anhydramnios (OAH), and kidney enlargement were associated with a significantly worse neonatal prognosis.Conclusion: Genotype, sonographic signs of OAH, enlarged kidney size, and pulmonary hypoplasia can be useful predictors of neonatal survival. We propose sonographic morphological criteria for ARPKD, ADPKD, MKS, and renal cyst and diabetes syndrome (RCAD). We further propose a clinical diagnostic algorithm for differentiating cystic kidney diseases. [ABSTRACT FROM AUTHOR]

Background: Congenital pulmonary airway malformation (CPAM) is an increasingly recognized disease with potential mortality. Owing to limited published studies, the true incidence is yet to be determined. We carried out this prospective study with the aim to estimate its true incidence on a population basis.Methods: An antenatal ultrasonography program was implemented since 2009. Fetuses with suspected intra-thoracic lesions were monitored by regular follow-ups. Antenatal course, postnatal outcomes, and other demographics were compared to those of patients with CPAM in the previous decades (1989-2008). The incidence of CPAM was calculated in different periods.Results: 66 CPAM patients were identified between 2009 and 2014 with 62 patients being detected by antenatal scan. In contrast, 45 patients were identified between 1989 and 2008 with 27 patients being detected antenatally. The incidence rate during the past and recent period was estimated as ~1 in 27,400 and ~1 in 7200 live births, respectively (p = 0.024).Conclusion: With increasing awareness of clinicians and the universal use of latest ultrasound technology, it is likely that more CPAM cases will be detected in the future. Here, we presented our best estimated incidence rate of CPAM, yet only a larger scale study can reveal its true incidence. [ABSTRACT FROM AUTHOR]

The detection of fetal anomalies has improved in the last years as a result of the generalization of ultrasound pregnancy screening exams. The presence of a cystic imaging in the fetal pelvis is a relatively common finding, which can correspond to a real congenital cystic lesion or result from the anomalous liquid accumulation in a whole pelvic organ, mainly the urinary bladder, the uterus, or the vagina. In selected cases with poor prognosis and/or inconclusive echographic findings, magnetic resonance may bring additional information in terms of the characterization, anatomical location, and real extension of the pathology. This pictorial essay describes the normal pelvic fetal anatomy, as well as the most common pelvic cysts. It also describes the causes of an anomalous distension of the whole pelvic organs detected in utero, with emphasis on prenatal magnetic resonance imaging exams. Moreover, it proposes practical teaching points to reduce the differential diagnosis of these lesions based on the sex of the fetus, the division of the pelvis in anatomical spaces, and the imaging findings of the pathology. Finally, it discusses the real utility of complementary MRI. [ABSTRACT FROM AUTHOR]

Purpose: To analyze fetal cases with spina bifida undergoing termination of pregnancy according to chromosomal analysis and further diagnosed sonographic findings.Methods: Retrospective analysis of cases with spina bifida leading to termination of pregnancy in a tertiary referral center from 2002 to 2011.Results: In the study period, 246 cases of spina bifida were diagnosed in our center and 157 parents chose termination of pregnancy. The time of diagnosis was on average 2 days before the first presentation at our department (22 + 3, range: 12 + 3 - 33 + 3 weeks of gestation). Among 157 pregnancies with spina bifida and termination of pregnancy, further malformations could be detected in 46 (29.3 %) cases. An abnormal karyotype could be found in 13 (18.1 %). Severe ventriculomegaly or mild/moderate ventriculomegaly was present in 109 (69.4 %) and 29 (18.5 %) of the cases, respectively, while banana sign was detectable in 153 cases (97.5 %). In the majority, the upper lesion level was lumbar (71.3 %). In 67 cases (42.7 %), termination of pregnancy took place in or after the 24th week of gestation.Conclusion: Direct and indirect signs of spina bifida were detectable in nearly all cases independent of the gestational age. Therefore, the diagnosis could have been made in all cases with late termination. Implementation of a uniform prenatal care including first-trimester scan with potential signs for open spina bifida and second-trimester anomaly scan with indirect intracranial findings and direct detection of spinal lesion could lead to an earlier diagnosis and help to reduce late termination of pregnancy in neural tube defects. [ABSTRACT FROM AUTHOR]

Purpose: To improve the outcome of fetuses with gastrochisis several studies evaluated prenatal predictors. But there are different guidelines established and therefore the prenatal care is not standardized. With our study we wanted to evaluate the outcome of fetuses with gastroschisis after modification of prenatal management strategies at the Department of Obstetrics and Gynecology of the University Hospital Münster.Methods: In this explorative retrospective study of 39 fetuses with gastroschisis, we compare the clinical outcome between two management groups. In the first group (group 1, n = 14) prenatal indication for delivery was confirmed by a subjective evaluation of the small bowel diameter and the wall thickness without established cut-off values for these parameters. In the second group (group 2, n = 25) certain limits for the small bowel diameter (25 mm) and the wall thickness (2.5 mm) were used for fetal surveillance.Results: Noticeable differences between the two groups regarding birth weight, weight centile, arterial pH, small bowel diameter, wall thickness, adverse bowel condition and re-operations could not be observed. In group 2, delivery was earlier (p = 0.011), and a lower rate of prenatal complications was observed (p = 0.016).Conclusion: To avoid adverse prenatal complications we recommend the observation of fetuses with gastroschisis by sonographic monitoring of the small bowel diameter and the wall thickness. [ABSTRACT FROM AUTHOR]

We present the case of a female infant referred for prenatal MR evaluation of ventriculomegaly, which had been attributed by the referring obstetrician to aqueductal stenosis. Fetal MR confirmed ventriculomegaly but also demonstrated cerebral volume loss and white matter abnormalities. After birth, the infant developed persistent lactic acidosis. A diagnosis of pyruvate dehydrogenase complex deficiency was made on the basis of metabolic and molecular genetic studies. Ventriculomegaly is a common referral reason for fetal MR, yet there are few published reports of the radiographic findings that accompany inborn errors of metabolism, one potentially under-recognized cause of enlarged ventricles. This case contributes to this small body of literature on the imaging features of pyruvate dehydrogenase complex deficiency by describing pre- and postnatal MR findings and key clinical details. Our report emphasizes the necessity of considering pyruvate dehydrogenase complex deficiency and other metabolic disorders as potential etiologies for fetal ventriculomegaly since prompt diagnosis may allow for early initiation of treatment and improve outcome. [ABSTRACT FROM AUTHOR]

Fetal teratomas are the most common tumors diagnosed prenatally. The majority of these tumors are benign and cured by complete resection of the mass during the neonatal period. Prenatal diagnosis has improved the perinatal management of these lesions and especially for the teratomas that might benefit from fetal intervention. A comprehensive prenatal evaluation including conventional ultrasounds, Doppler, echocardiography and fetal MRI, is essential for an effective counseling and perinatal management. Antenatal counseling helps the parents to better understand the natural history, fetal intervention, and perinatal management of these tumors, which differ dramatically depending on their size and location. Fetal surgical debulking improves survival in cases of sacrococcygeal teratoma with cardiac decompensation. Additionally, the use of an EXIT procedure reduces the morbidity and mortality if a complicated delivery in cases of cervical and mediastinal teratomas. Here, we offer an overview of all fetal teratomas and their recommended management, with emphasis on in utero treatment options. [ABSTRACT FROM AUTHOR]

Purpose: To determine correlations between macrophage colony-stimulating factor (MCSF) levels in maternal blood during first trimester screening with respect to normal and pathological pregnancies.Methods: This was a prospective single centre study. First trimester screening was performed according to FMF London certificates. Nuchal translucency, PAPP-A and free β-HCG were obtained as well as M-CSF serum levels in maternal blood. Fetal karyotyping was achieved by chorionic villi sampling.Results: 125 patients were enrolled in this study. 21 pregnancies had confirmed aberrant karyotypes. Trisomy 21 cases showed significantly elevated M-CSF levels of 270 ± 91 pg/ml (p = 0.032), whereas cases of trisomy 13 (183 ± 68 pg/ml) and trisomy 18 (143 ± 40 pg/ml) had low M-CSF levels. Furthermore M-CSF levels tended to be low in preterm deliveries, placental insufficiency and nicotine consumption. In cases with gestational diabetes M-CSF tended to be elevated. Furthermore we found a positive correlation between high free β-human chorionic gonadotropin (hcg) and MCSF values. There was no correlation between pregnancy associated plasma protein (PAPP-A) and M-CSF.Conclusions: M-CSF is a cytokine promoting placental growth and differentiation. M-CSF is known to be involved in the process of implantation in pregnancy. The role of M-CSF with respect to disturbed pregnancy outcomes such as placental insufficiency in normal or aberrant karyotypes, for example, is yet subject to further research. [ABSTRACT FROM AUTHOR]

Purpose: To identify predictive ultrasound signs for unfavorable outcome in fetal gastroschisis (GS).Methods: This is a retrospective cohort study among pregnant women with the prenatal diagnosis of GS between 1998 and 2011 at the University of Wuerzburg, Germany. Analysis included prenatal ultrasound scans, neonatal intensive care unit (NICU) records, and pediatric records. The collected variables included maternal and fetal demographics, as well as an analysis of predictors for unfavorable fetal outcome. Unfavorable outcome was defined by more than 2 postnatal surgical interventions, intestinal resections, and long time to oral feeding (≥4 weeks).Results: 35 cases of fetal GS were diagnosed, whereby 23 cases met the inclusion criteria and were evaluated by prenatal ultrasound and postnatal outcome. Based on the postnatal situation, 15 patients were classified in a good prognosis group and 8 patients in a poor prognosis group. Fetuses with poor prognosis were presented later during pregnancy (21.1 ± 6 vs. 26.9 ± 5.3 weeks; p < 0.01) and delivered at earlier gestational age (35.6 ± 0.8 vs. 33.4 ± 1.4 weeks; p < 0.01) with lower birth weight (2074 ± 306.3 vs. 2559 ± 255.4 g; p < 0.01). There were no differences in prenatal findings like growth restriction, amniotic fluid index, or Doppler results between good and poor prognosis group. However, early detected and long-lasting bowel dilatation was associated with poor prognosis.Conclusion: Late presentation and early gestational age at delivery are associated with poor prognosis in neonates with GS. Furthermore, early onset as well as long duration of bowel dilatation is associated with poor fetal outcome, while other ultrasound characteristics are not able to predict poor prognosis of GS. [ABSTRACT FROM AUTHOR]

Unlabelled: Congenital anomalies of the kidney and urinary tract are common findings on fetal ultrasound. The aim of this prospective observational study was to describe outcome and risk factors in 115 patients born 1995-2001. All prenatally diagnosed children were stratified into low- and high-risk group and followed postnatally clinically and by imaging at defined endpoints. Risk factors were evaluated using odds ratios. Neonatal diagnosis included pelvi-ureteric junction obstruction (n = 33), vesicoureteral reflux (n = 27), solitary mild pelvic dilatation (postnatal anteroposterior diameter 5-10 mm; n = 25), and further diagnosis as primary obstructive megaureter, unilateral multicystic dysplastic kidney, renal dysplasia and posterior urethral valves. In 38 children with prenatal isolated hydronephrosis, ultrasound normalized at median age of 1.2 years (range 0.1-9). Surgery was performed in 34 children at median age of 0.4 years (0.1-10.8). Persistent renal anomalies without surgery were present in 43 children and followed in 36 for median time of 16 years (12.2-18). Oligohydramnios and postnatal bilateral anomalies were significantly associated with surgery and impaired renal function.Conclusion: The majority of children had a favourable postnatal outcome, in particular children with prenatally low risk, i.e. isolated uni- or bilateral hydronephrosis. Oligohydramnios and postnatal bilateral anomalies were risk factors for non-favourable outcome.What Is Known: • In congenital anomalies of the kidney and urinary tract significantly poorer outcome is known in patients with bilateral renal hypoplasia or solitary kidney associated with posterior urethral valves. • Other factors as proteinuria and vesicoureteral reflux were associated with a higher risk of progression to chronic renal failure in these patients. What is New: • Unlike other studies giving us above-mentioned information, we included all patients with any kind of prenatally diagnosed congenital anomalies of the kidney and urinary tract. Our study shows long-term follow up (median 16 years, range 12.2-18 years), especially in patients not needing surgery, but with persistent anomalies. • During postnatal long-term follow up (median 2.2 years, range 0.1-18 years) one third each showed normalization, need of surgery or persistence of anomalies without need of surgery. Our study revealed a good prognosis in the majority of these children, in particular with prenatally low risk, i.e. isolated uni- or bilateral hydronephrosis, and revealed oligohydramnios and postnatal bilateral anomalies as risk factors for a non-favourable outcome, defined as need of surgery, persistent anomalies with impaired renal function, end stage renal failure or death. [ABSTRACT FROM AUTHOR]

Nowadays most renal disorders, especially urinary tract malformations and renal cystic disease, are diagnosed antenatally. In cases of severe bilateral disease, intrauterine renal dysfunction may lead to renal oligohydramnios (ROH), resulting in pulmonary hypoplasia which affects perinatal mortality and morbidity as well as the long-term outcome. However, some infants may only have mild pulmonary and renal disease, and advances in postnatal and dialysis treatment have resulted in improved short- and long-term outcome even in those infants with severe ROH. Here, we review the current state of knowledge and clinical experience of patients presenting antenatally with severe bilateral renal disorders and ROH. By addressing underlying mechanisms, intrauterine tools of diagnosis and treatment as well as published outcome data, we hope to improve antenatal counselling and postnatal care. Key summary points: [ABSTRACT FROM AUTHOR]

Background: The aim of this study was to identify predictors of 'intrauterine fetal renal failure' in fetuses with severe congenital lower urinary tract obstruction (LUTO). Methods: We undertook a retrospective study of 31 consecutive fetuses with a diagnosis of LUTO in a tertiary Fetal Center between April 2013 and April 2015. Predictors of 'intrauterine fetal renal failure' were evaluated in those infants with severe LUTO who had either a primary composite outcome measure of neonatal death in the first 24 h of life due to severe pulmonary hypoplasia or a need for renal replacement therapy within 7 days of life. The following variables were analyzed: fetal bladder re-expansion 48 h after vesicocentesis, fetal renal ultrasound characteristics, fetal urinary indices, and amniotic fluid volume. Results: Of the 31 fetuses included in the study, eight met the criteria for 'intrauterine fetal renal failure'. All of the latter had composite poor postnatal outcomes based on death within 24 h of life ( n = 6) or need for dialysis within 1 week of life ( n = 2). The percentage of fetal bladder refilling after vesicocentesis at time of initial evaluation was the only predictor of 'intrauterine fetal renal failure' (cut-off <27 %, area under the time-concentration curve 0.86, 95 % confidence interval 0.68-0.99; p = 0.009). Conclusion: We propose the concept of 'intrauterine fetal renal failure' in fetuses with the most severe forms of LUTO. Fetal bladder refilling can be used to reliably predict 'intrauterine fetal renal failure', which is associated with severe pulmonary hypoplasia or the need for dialysis within a few days of life. [ABSTRACT FROM AUTHOR]

Imaging plays a key role in the detection of a diaphragmatic pathology in utero. US is the screening method, but MRI is increasingly performed. Congenital diaphragmatic hernia is by far the most often diagnosed diaphragmatic pathology, but unilateral or bilateral eventration or paralysis can also be identified. Extralobar pulmonary sequestration can be located in the diaphragm and, exceptionally, diaphragmatic tumors or secondary infiltration of the diaphragm from tumors originating from an adjacent organ have been observed in utero. Congenital abnormalities of the diaphragm impair normal lung development. Prenatal imaging provides a detailed anatomical evaluation of the fetus and allows volumetric lung measurements. The comparison of these data with those from normal fetuses at the same gestational age provides information about the severity of pulmonary hypoplasia and improves predictions about the fetus's outcome. This information can help doctors and families to make decisions about management during pregnancy and after birth. We describe a wide spectrum of congenital pathologies of the diaphragm and analyze their embryological basis. Moreover, we describe their prenatal imaging findings with emphasis on MR studies, discuss their differential diagnosis and evaluate the limits of imaging methods in predicting postnatal outcome. [ABSTRACT FROM AUTHOR]

Background: Prenatal ultrasonography has greatly enhanced detection of congenital genitourinary abnormalities. However, although persistent prenatal hydronephrosis (PPH) is typically imaged and followed postnatally, it remains unclear if prenatal hydronephrosis that resolves in utero (RPH) should be similarly managed. We determined postnatal abnormalities associated with RPH and compared these to those associated with PPH. Methods: We performed a retrospective review of all consecutive patients evaluated for prenatal hydronephrosis over 24 months. Patients were followed prenatally with serial ultrasounds and postnatally with ultrasonography and a voiding cystourethrogram. Results: Of the consecutive 165 patients enrolled in the study, 72 had RPH. The average prenatal anterior-posterior renal pelvis length was significantly longer in patients with PPH (5.5 mm) than in those with RPH (4.9 mm) ( p = 0.01). Recurrent postnatal hydronephrosis occurred in 44 % of patients with RPH, with eventual resolution in 34 % of those affected. In comparison, 29 % of PPH cases resolved postnatally. Mean time to resolution was statistically shorter for PPH (116 days) than for RPH (175 days) ( p = 0.01). Seven PPH patients required surgery, while no RPH patients needed intervention (difference was statistically significant). Conclusions: A significant number of RPH children had postnatal hydronephrosis. Despite a slower resolution time, no children with RPH required intervention. Although RPH may recur postnatally, the significantly lower chance of intervention being required suggests that these children may not require postnatal imaging. [ABSTRACT FROM AUTHOR]

The strategy for the management of children with urinary tract anomalies has changed considerably as a result of the development of ultrasound equipment and techniques that allow for detailed fetal evaluation. Hydronephrosis is the most common urogenital anomaly detected, suggesting that an obstructive process may be potentially present. The goal of postnatal management is to identify and treat those patients whose renal function is at risk, while leaving alone the high percentage of patients who are at no risk of renal damage. This management involves a spectrum of radiological, medical, and surgical interventions for diagnosis, surveillance, and treatment. In this article, we review our current understanding of the natural history of antenatal hydronephrosis and its management. [ABSTRACT FROM AUTHOR]