This study was targeted on a metabolomic approach to compare the blood serum free amino acid profiles and concentration of confirmed breast cancer (stages I–III) patients to healthy controls in order to establish reliable biomarkers of early detection and prediction of breast cancer. The ultra-high-performance liquid chromatography coupled with mass spectrometry using positive ionization electrospray was applied for the picoline-derivatized serum free amino acids using the EZ:faastTM kit. Multivariate statistical analysis principal component analysis, partial least squares discrimination analysis and univariate analysis were applied in order to discriminate between patient groups and putative amino acid biomarkers for breast cancer. A significant decrease of amino acid concentrations between the breast cancer group and the control group was positively correlated with breast cancer progression. Arginine, Alanine, Isoleucine, Tyrosine and Tryptophan were identified as being good potential discriminants (AUROC ≥0.85) and suitable candidates to diagnose and predict the breast cancer progression.

Objective: The aim of this study was to establish the diagnostic accuracy of high‐field magnetic resonance imaging (MRI) at 7 Tesla (T) compared with that of stereomicroscopic autopsy for assessing first trimester fetuses.Methods: Nine consecutive cases of first trimester fetuses resulting from spontaneous and therapeutic pregnancy termination were considered. The cases were divided into two groups according to gestational age: the Embryo Group with cases of nine to 10 gestational weeks (GWs) and the Fetus Group with cases of 13 GWs. The first group was scanned using three‐dimensional fast imaging with steady state precession (3D FISP), and the second group was scanned using a two‐dimensional (2D) turbo spin‐echo high‐resolution T2‐weighted imaging (T2 WI) protocol. A radiologist and two embryologists interpreted the images. All cases were evaluated by invasive autopsy, with pathologist blinded to the imaging results. In total, the database included 270 items for evaluation (9 cases × 30 structures/case).Results: The global agreement between fetal high‐field virtopsy and microscopic or stereomicroscopic autopsy was evaluated using 225 evaluation items visible by both methods. Overall, using microscopic examination and stereomicroscopic autopsy as the gold standard, fetal high‐field virtopsy had a sensitivity of 94.6% [95% CI, 87.2‐98.3] and a specificity of 97.6% [95% CI, 95‐98.8]. The positive predictive value (PPV) was 93% [95% CI, 85.7‐96.6], and the negative predictive value (NPV) was 98.2% [95% CI, 95.7‐99.4]. Cohen kappa coefficient of agreement was k = 0.92 [95% CI, 0.82‐0.97], and the McNemar test showed p = 1.00.Conclusions: Virtual autopsy using high‐field MRI at 7 T can be considered a safe alternative approach to stereomicroscopic autopsy for the assessment of fetal structural anomalies at the end of the first trimester of pregnancy.

The present study provides our clinical experience regarding the imaging diagnosis, management and postnatal outcome of neonates prenatally suspected of having developed ovarian cysts. This multicenter observational study included patients diagnosed prenatally with fetal ovarian cysts and follow-up in the postnatal period. Descriptive statistics were used to render the information regarding the prenatal imaging aspect of the fetal pelvic masses using ultrasound and/or MRI, prenatal surveillance and postnatal neonate’s immediate outcome, indications leading to surgery and pathologic aspect. The inclusion criteria were fulfilled by 21 patients. The mean gestational age at the time of initial diagnosis was 31.28 weeks of gestation (WG). Only five out of 21 cysts regressed completely during pregnancy without postnatal complications. In addition, 11 out of 21 infant’s required surgical treatment in the first two weeks after birth, mainly for ovarian torsion. Five out of 21 neonates were referred to postnatal follow-up clinically and by ultrasound, but three out of five cases required emergency surgical treatment for acute complications. Ultrasound plays a major role in the diagnostic of fetal ovarian cyst. From our experience, MRI does not bring supplementary data or change the management. Spontaneous resolution of fetal ovarian cysts is to be expected but the ovarian mass could lead to serious complications, if resolution does not occur in due time.

Neonatal hemochromatosis (NH) is an uncommon, severe disorder that results in fetal loss or neonatal death due to liver failure. NH is currently regarded as the phenotypic expression of gestational alloimmune liver disease (GALD). The diagnosis of NH-GALD is rarely prenatally established. In addition to providing a systematic review of the prenatal features that are identifiable using ultrasound (US) and MRI, we suggest a prenatal diagnosis algorithm for use in suspected NH during the first affected pregnancy. From a total of 586 database entries identified in PubMed, Google Scholar, and ResearchGate, we selected 18 studies published from 1993 to 2021 that reported maternal medical and obstetric history, prenatal ultrasound findings, and postpartum outcomes. We investigated the ultrasound and MRI features of these studies, along with the outcome due to this condition. A total of 74 cases were identified. The main reported prenatal US finding was fetal growth restriction (FGR) (33%), followed by oligohydramnios (13%) and hydrops fetalis (13%), with 13% cases described as uneventful. Other rare prenatal findings were fetal anemia, ascites, and abnormal fetal liver and spleen. Most pregnancies ended with fetal/perinatal death or therapeutic interruption of pregnancy. Favorable evolution with treatment (ensanguine transfusion and intravenous immunoglobulin (IVIG)) was reported for only 7% of fetuses. Using T2-weighted MRI, fetal extrahepatic siderosis confirmed prenatally in two cases and postnatally in 11 cases. IVIG treatment throughout subsequent pregnancies was found to significantly improve fetal prognosis. MRI should be indicated in selected cases of oligohydramnios, fetal hydrops, fetal hepatomegaly, ascites, or unexplained FGR or anemia after ruling out all other more frequently encountered conditions. MRI can be used to detect iron overload in the liver and extrahepatic siderosis.

Objective: To determine the diagnostic value of virtual autopsy using post mortem-MRI (pm-MRI) at 3Tesla (T) compared to classic autopsy for the confirmation of fetal structural anomalies and secondly to establish which cases of termination of pregnancy would benefit mostly from a virtual autopsy.Methods: In each of 32 fetuses included in the study, 32 anatomical structures were assessed, after termination of pregnancy in the second trimester. All cases were evaluated by prenatal ultrasonography, virtual autopsy and classic autopsy, and then divided into four groups: Cerebral Group, Cardiac Group, Renal Group and Other Group (miscellaneous group). The concordance of virtual autopsy with classic autopsy was calculated overall and for each group and each structural item. Also, the concordance between the two methods was assessed using a diagnostic error score (DgE_score), calculated as the absolute value of the difference between the number of malformations detected by classic autopsy per case (CA score) and the number of malformations detected at virtual autopsy per case (VA score).Results: Overall virtual autopsy demonstrated a diagnostic sensitivity (Se) compared to classic autopsy of 67.33% [95% CI 57.28–76.33], with a specificity (Sp) of 98.37% [95% CI 97.33–99.09], a positive predictive value (PPV) of 81.93% [95% CI 71.95–89.52], a negative predictive value (NPV) of 96.49% [95% CI 95.11–97.57] achieving a diagnostic accuracy of 95.31% [95% CI 93.83–96.52]. Overall, no statistic significant correlation was demonstrated between DgE_score and the gestational age of the fetuses or between DgE_score and the weight of the fetuses, but a significant correlation was revealed between the virtual autopsy and classic autopsy score. The diagnostic utility of virtual autopsy using pm-MRI at 3 T as compared to classic autopsy for each category of termination of pregnancy revealed in the Cerebral Group a Se of 80.00% [95% CI 28.36–99.49], with a 96.30% [95% CI 81.03–99.91], a PPV of 80.00% [95% CI 35.75–96.64] a NPV of 96.30% [95% CI 81.81–99.34], with a diagnostic accuracy of 93.75% [95% CI 79.19% to 99.23] and a Cohen’s Kappa coefficient of 0.76 [95% CI 0.4494–1.0765]; in the Renal Group a Se and Sp of 100%, but in the Cardiac Group the Se was only 60.00% [95% CI 26.24–87.84], Sp 75% [95% CI 34.91–96.81], the PPV 75.00% [95% CI 44.92–91.69], NPV 60% [95% CI 38.87–77.96], with a diagnostic accuracy of 66.67% [95% CI 40.99–86.66] and a Cohen’s Kappa coefficient of 0.32 [95% CI -0.07–0.76].Conclusions: The results support virtual autopsy using pm-MRI at 3T as a reliable alternative to classic autopsy for the non-forensic analysis of second trimester fetuses. Analyzing the diagnostic utility of virtual autopsy using pm-MRI at 3 T for the confirmation of prenatal ultrasound findings in second trimester fetuses as compared to classic autopsy, the best results were obtained in the Cerebral and Renal Group. Reserved results were found in the Cardiac Group. Therefore, for the pregnancies with termination of pregnancy for cerebral or renal abnormalities, virtual autopsy by pm-MRI at 3T can be taken into consideration as a first-line investigation to confirm the prenatal findings.

Objective: To determine the diagnostic accuracy of virtual autopsy using whole‐body postmortem ultra‐high field magnetic resonance imaging (MRI) at 7 Tesla (T), using a short T2‐weighted imaging (T2‐WI) protocol, compared with classical autopsy, for detecting structural abnormalities in small second‐trimester fetuses.Methods: Thirty consecutive fetuses at 13–19 weeks' gestation (weight, 17–364 g) were included following spontaneous pregnancy loss or termination of pregnancy. After fixation in 10% formaldehyde solution (48 h to 1 week), all fetuses were scanned using a two‐dimensional turbo high‐resolution T2‐WI protocol with multislice relaxation time, followed by an invasive autopsy. The diagnostic accuracy of virtual autopsy vs classical autopsy was calculated for 990 anatomical structures (30 fetuses × 33 items). Sensitivity, specificity, positive and negative predictive values and Cohen's κ coefficient of agreement, with their 95% CIs, as well as the McNemar test, were used to evaluate the accuracy and agreement of the two diagnostic methods. Analysis was stratified by anatomical segment (nervous, pulmonary, cardiovascular, digestive, renal, facial and skeletal) and across three gestational‐age intervals (13–14, 15–16 and 17–19 weeks).Results: Considering classical autopsy as the gold standard, virtual autopsy had a sensitivity of 92.04% (95% CI, 85.42–96.29%) and a specificity of 97.87% (95% CI, 94.64–99.42%), with a positive predictive value of 96.30% (95% CI, 90.78–98.56%) and a negative predictive value of 95.34% (95% CI, 91.61–97.45%), achieving a diagnostic accuracy of 95.68% (95% CI, 92.73–97.68%) for detecting structural abnormalities in second‐trimester fetuses. Cohen's κ for virtual vs classical autopsy was 0.907. The diagnostic ability of virtual autopsy at 7 T for malformed fetuses was superior to that of classical autopsy for analyzing the nervous system in small fetuses with pronounced autolysis, equivalent to that of classical autopsy when analyzing pulmonary, cardiovascular and renal systems and inferior when evaluating the fetal intestines. The sensitivity of virtual autopsy at 7 T for describing structural abnormalities increased with gestational age.Conclusion: Virtual fetal autopsy using 7‐T MRI and a turbo high‐resolution T2‐WI protocol with multislice relaxation time is a feasible postmortem diagnostic tool for the identification of fetal structural anomalies. © 2024 The Author(s). Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.