Pyruvate dehydrogenase complex deficiency (PDCD) is a disorder of mitochondrial metabolism that is caused by pathogenic variants in multiple genes, including PDHA1. Typical neonatal brain imaging findings in PDCD have been described, with a focus on malformative features and chronic encephaloclastic changes. However, fetal brain MRI imaging in confirmed PDCD has not been comprehensively described. We sought to demonstrate the prenatal neurological and systemic manifestations of PDCD determined by comprehensive fetal imaging and genomic sequencing. All fetuses with a diagnosis of genetic PDCD who had undergone fetal MRI were included in the study. Medical records, imaging data, and genetic testing results were reviewed and reported descriptively. Ten patients with diagnosis of PDCD were included. Most patients had corpus callosum dysgenesis, abnormal gyration pattern, reduced brain volumes, and periventricular cystic lesions. One patient had associated intraventricular hemorrhages. One patient had a midbrain malformation with aqueductal stenosis and severe hydrocephalus. Fetuses imaged in the second trimester were found to have enlargement of the ganglionic eminences with cystic cavitations, while those imaged in the third trimester had germinolytic cysts. Fetuses with PDCD have similar brain MRI findings to neonates described in the literature, although some of these findings may be subtle early in pregnancy. Additional features, such as cystic cavitations of the ganglionic eminences, are noted in the second trimester in fetuses with PDCD, and these may represent a novel early diagnostic marker for PDCD. Using fetal MRI to identify these radiological hallmarks to inform prenatal diagnosis of PDCD may guide genetic counseling, pregnancy decision-making, and neonatal care planning.

BACKGROUND: Malformations of cortical development (MCD) are a group of congenital disorders characterized by structural abnormalities in the brain cortex. The clinical manifestations include refractory epilepsy, mental retardation, and cognitive impairment. Genetic factors play a key role in the etiology of MCD. Currently, there is no curative treatment for MCD. Phenotypes such as epilepsy and cerebral palsy cannot be observed in the fetus. Therefore, the diagnosis of MCD is typically based on fetal brain magnetic resonance imaging (MRI), ultrasound, or genetic testing. The recent advances in neuroimaging have enabled the in-utero diagnosis of MCD using fetal ultrasound or MRI.
METHODS: The present study retrospectively reviewed 32 cases of fetal MCD diagnosed by ultrasound or MRI. Then, the chromosome karyotype analysis, single nucleotide polymorphism array or copy number variation sequencing, and whole-exome sequencing (WES) findings were presented.
RESULTS: Pathogenic copy number variants (CNVs) or single-nucleotide variants (SNVs) were detected in 22 fetuses (three pathogenic CNVs [9.4%, 3/32] and 19 SNVs [59.4%, 19/32]), corresponding to a total detection rate of 68.8% (22/32).
CONCLUSIONS: The results suggest that genetic testing, especially WES, should be performed for fetal MCD, in order to evaluate the outcomes and prognosis, and predict the risk of recurrence in future pregnancies.

OBJECTIVE: This study aimed to evaluate the disparity of the expectations and basic knowledge of prenatal ultrasound (US) screening among pregnant women and make a comparison with the current scientific knowledge and national recommendations. We hypothesize that sociodemographic factors, including age, education, and professional occupation, may be associated with different levels of knowledge.
METHODS: This was a cross-sectional study performed in 2021 of 336 women aged 18 to 46 years in a maternity facility in a tertiary hospital in Portugal. The main outcome measures were questionnaire data from questions divided into four categories (sociodemographic, expectations, knowledge, and final considerations/suggestions). The data were grouped according to the sociodemographic factors (age, educational level, and professional occupation) and analyzed and compared as a function of the social groups as well as overall tendencies.
RESULTS: Our data confirmed a significant discrepancy between the expectations and general knowledge of pregnant women regarding prenatal US when compared with the current scientific knowledge. Importantly, we found that both depended greatly on sociodemographic factors, particularly educational level. This reiterated the importance of conducting effective dissemination actions of current scientific knowledge, focusing on the main objectives of US screening as well as the limitations of the existing technology.
CONCLUSIONS: This study will help in defining strategies for future dissemination actions aiming to improve current practice and lead to a higher synchrony of expectations towards US between couples and practitioners.

Three-dimensional (3D) ultrasonic imaging can enable post-facto plane of interest selection. It can be performed with devices such as wobbler probes, matrix probes, and sensor-based probes. Ultrasound systems that support 3D-imaging are expensive with added hardware complexity compared to 2D-imaging systems. An inertial measurement unit (IMU) can potentially be used for 3D-imaging by using it to track the motion of a one-dimensional array probe and constraining its motion in one degree of freedom (1-DoF) rotation (swept-fan). This work demonstrates the feasibility of an affordable IMU-assisted manual 3D-ultrasound scanner (IAM3US). A consumer-grade IMU-assisted 3D scanner prototype is designed with two support structures for swept-fan. After proper IMU calibration, an appropriate KF-based algorithm estimates the probe orientation during the swept-fan. An improved scanline-based reconstruction method is used for volume reconstruction. The evaluation of the IAM3US system is done by imaging a tennis ball filled with water and the head region of a fetal phantom. From fetal phantom reconstructed volumes, suitable 2D planes are extracted for biparietal diameter (BPD) manual measurements. Later, in-vivo data is collected. The novel contributions of this paper are (1) the application of a recently proposed algorithm for orientation estimation of swept-fan for 3D imaging, chosen based on the noise characteristics of selected consumer grade IMU (2) assessment of the quality of the 1-DoF swept-fan scan with a deflection detector along with monitoring of maximum angular rate during the scan and (3) two probe holder designs to aid the operator in performing the 1-DoF rotational motion and (4) end-to-end 3D-imaging system-integration. Phantom studies and preliminary in-vivo obstetric scans performed on two patients illustrate the usability of the system for diagnosis purposes.

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UNASSIGNED: This study aims to evaluate deep learning (DL) denoising reconstructions for image quality improvement of Doppler ultrasound (DUS)-gated fetal cardiac MRI in congenital heart disease (CHD).
UNASSIGNED: Twenty-five fetuses with CHD (mean gestational age: 35 ± 1 weeks) underwent fetal cardiac MRI at 3T. Cine imaging was acquired using a balanced steady-state free precession (bSSFP) sequence with Doppler ultrasound gating. Images were reconstructed using both compressed sensing (bSSFP CS) and a pre-trained convolutional neural network trained for DL denoising (bSSFP DL). Images were compared qualitatively based on a 5-point Likert scale (from 1 = non-diagnostic to 5 = excellent) and quantitatively by calculating the apparent signal-to-noise ratio (aSNR) and contrast-to-noise ratio (aCNR). Diagnostic confidence was assessed for the atria, ventricles, foramen ovale, valves, great vessels, aortic arch, and pulmonary veins.
UNASSIGNED: Fetal cardiac cine MRI was successful in 23 fetuses (92%), with two studies excluded due to extensive fetal motion. The image quality of bSSFP DL cine reconstructions was rated superior to standard bSSFP CS cine images in terms of contrast [3 (interquartile range: 2-4) vs. 5 (4-5), P < 0.001] and endocardial edge definition [3 (2-4) vs. 4 (4-5), P < 0.001], while the extent of artifacts was found to be comparable [4 (3-4.75) vs. 4 (3-4), P = 0.40]. bSSFP DL images had higher aSNR and aCNR compared with the bSSFP CS images (aSNR: 13.4 ± 6.9 vs. 8.3 ± 3.6, P < 0.001; aCNR: 26.6 ± 15.8 vs. 14.4 ± 6.8, P < 0.001). Diagnostic confidence of the bSSFP DL images was superior for the evaluation of cardiovascular structures (e.g., atria and ventricles: P = 0.003).
UNASSIGNED: DL image denoising provides superior quality for DUS-gated fetal cardiac cine imaging of CHD compared to standard CS image reconstruction.

BACKGROUND: Antenatal imaging provides clinical information regarding fetal growth and development. The additional benefit afforded by imaging for expectant parents in developing an emotional connection (bond) to the unborn baby is also acknowledged. However, the relationship between imaging and bonding is not fully understood, particularly where there are differing parental and pregnancy circumstances, for example use of advanced imaging techniques or the prenatal diagnosis of a congenital fetal condition. This study aimed to explore the role of antenatal imaging in enhancing the developing parent-fetal bond in first-time parents.
METHODS: A descriptive, qualitative methodology was used. Semi-structured telephone interviews were conducted with first-time expectant parents attending a London hospital for clinical ultrasound (n = 20) or research MRI (n = 8) imaging during pregnancy. The sample included parents receiving specialist antenatal care for a diagnosed fetal cardiac condition (n = 8). Thematic analysis was conducted.
RESULTS: The analysis generated three themes: 1) Our baby, our scan too; 2) Destination parenthood; and 3) Being in the dark, then finding the light. These themes highlight the important, but transient role of antenatal imaging in enhancing parent-fetal bonding, as well as the differing care needs of expectant parents. The integral role of healthcare professionals in providing a personalised, supportive, imaging experience to facilitate bonding is also reflected.
CONCLUSIONS: Adopting parent-centred care approaches which involve expectant parents in fetal imaging influences bonding by helping parents to consider the reality of their impending parenthood. Knowledge acquired during scans is used to create an identity for the unborn baby, which parents can develop an emotional connection to.
CONCLUSIONS: To optimise the potential for enhanced parent-fetal bonding, care provision in fetal imaging should be tailored to the individual needs of expectant parents.

OBJECTIVE: To investigate the advantage of T1-weighted fast fluid-attenuated inversion-recovery MRI sequence without (T1-FFLAIR) and with compressed sensing technology (T1-FFLAIR-CS), which shows improved T1-weighted contrast, over standard used T1-weighted fast field echo (T1-FFE) sequence for the assessment of fetal myelination.
METHODS: This retrospective single-center study included 115 consecutive fetal brain MRI examinations (63 axial and 76 coronal, mean gestational age (GA) 28.56 ± 5.23 weeks, range 19-39 weeks). Two raters, blinded to GA, qualitatively assessed a fetal myelin total score (MTS) on each T1-weighted sequence at five brain regions (medulla oblongata, pons, mesencephalon, thalamus, central region). One rater performed region-of-interest quantitative analysis (n = 61) at the same five brain regions. Pearson correlation analysis was applied for correlation of MTS and of the signal intensity ratios (relative to muscle) with GA on each T1-weighted sequence. Fetal MRI-based results were compared with myelination patterns of postmortem fetal human brains (n = 46; GA 18 to 42), processed by histological and immunohistochemical analysis.
RESULTS: MTS positively correlated with GA on all three sequences (all r between 0.802 and 0.908). The signal intensity ratios measured at the five brain regions correlated best with GA on T1-FFLAIR (r between 0.583 and 0.785). T1-FFLAIR demonstrated significantly better correlations with GA than T1-FFE for both qualitative and quantitative analysis (all p < 0.05). Furthermore, T1-FFLAIR enabled the best visualization of myelinated brain structures when compared to histology.
CONCLUSIONS: T1-FFLAIR outperforms the standard T1-FFE sequence in the visualization of fetal brain myelination, as demonstrated by qualitative and quantitative methods.
CONCLUSIONS: T1-weighted fast fluid-attenuated inversion-recovery sequence (T1-FFLAIR) provided best visualization and quantification of myelination in utero that, in addition to the relatively short acquisition time, makes feasible its routine application in fetal MRI for the assessment of brain myelination.
CONCLUSIONS: • So far, the assessment of fetal myelination in utero was limited due to the insufficient contrast. • T1-weighted fast fluid-attenuated inversion-recovery sequence allows a qualitative and quantitative assessment of fetal brain myelination. • T1-weighted fast fluid-attenuated inversion-recovery sequence outperforms the standard used T1-weighted sequence for visualization and quantification of myelination in utero.

BACKGROUND: Caudal regression syndrome is a rare complex congenital anomaly with reduced penetrance and phenotypic variability characterized by osseous defects of the caudal spine, lower limb anomalies, and accompanying genitourinary, gastrointestinal/anorectal, and cardiac system soft tissue defects. We report a rare presentation of type 1 caudal regression syndrome in a pregnant woman with preexisting diabetes, in which early recognition of severe fetal anomalies on routine antenatal ultrasound facilitated confirmation with fetal magnetic resonance imaging to characterize extent of disease and prognosticate fetal outcome.
METHODS: This case of type 1 caudal regression syndrome in the setting of maternal pregestational diabetes mellitus resulted in stillbirth. The mother was a 29-year-old Caucasian primigravida female with past medical history of poorly controlled type 2 diabetes managed with metformin prior to pregnancy, prompting admission for glucose management and initiation of insulin at 13 weeks. Baseline hemoglobin A1c was high at 8.0%. Fetal ultrasound at 22 weeks was notable for severe sacral agenesis, bilateral renal pelvis dilatation, single umbilical artery, and pulmonary hypoplasia. Fetal magnetic resonance imaging at 29 weeks showed absent lower two-thirds of the spine with corresponding spinal cord abnormality compatible with type 1 caudal regression syndrome. The mother delivered a male stillborn at 39 and 3/7 weeks. Minimally invasive postmortem magnetic resonance imaging and computed tomography autopsy were performed to confirm clinical findings when family declined conventional autopsy. Etiology of sacral agenesis was attributed to poorly controlled maternal diabetes early in gestation.
CONCLUSIONS: Maternal preexisting diabetes is a known risk factor for development of congenital malformations. This rare case of type 1 caudal regression syndrome in a mother with preexisting diabetes with elevated hemoglobin A1c highlights the importance of preconception glycemic control in diabetic women and the utility of fetal magnetic resonance imaging for confirmation of ultrasound findings to permit accurate prognostication. Additionally, minimally invasive postmortem magnetic resonance imaging and computed tomography autopsy can facilitate diagnostic confirmation of clinical findings in perinatal death due to complex congenital anomalies while limiting the emotional burden on bereaved family members who decline conventional autopsy.

OBJECTIVE: The acceptance of conventional autopsy (CA), the gold standard method for investigating fetal death, often remains problematic. Post-mortem magnetic resonance imaging (PMMRI) is increasingly advocated, particularly for neurologic malformations. However, PMMRI performances to diagnose non-neurologic malformations remain unclear. We aim to clarify whether a full body CA remains needed after prenatal ultrasound (US) and PMMRI in assessing non-neurologic fetal malformations.
METHODS: In this retrospective IRB-approved study, during a 6-year period, all fetuses who underwent PMMRI, prenatal US, and full body CA were included. Body abnormalities were identified in US, PMMRI, and CA reports. US and PMMRI images were all reviewed. All abnormalities were graded as major (2 points) or minor (1 point). Each technique (US, PMMRI, CA) was given a score by adding all grading points. In each fetus, results were compared for both separate and combined US and PMMRI to CA. Sensitivity and specificity were calculated for detecting major abnormalities.
RESULTS: Fifty fetuses were included. The score of CA, US, and PMMRI was respectively 53, 37, and 46. Compared with US-PMMRI, CA added information in 2 cases (4%) with major abnormalities and 7 cases (14%) with minor abnormalities. PMMRI and US were concordant in 36/50 (72%) fetuses. Separate US/PMMRI sensitivities and specificities for detecting major body malformations respectively were 80%/80% and 100%/94%. Combined US-PMMRI had a sensitivity of 90% and a specificity of 94%. Two cardiac malformations (2/6) were only described by CA.
CONCLUSIONS: After prenatal US and PMMRI, few additional fetal body malformations are discovered with CA. Nevertheless, fetal heart autopsy remains mandatory.
CONCLUSIONS: A cardiac conventional autopsy complemented by prenatal ultrasound and post-mortem MRI allows to detect all major fetal body abnormalities. With this efficient and much less invasive approach, a higher acceptance rate of fetal autopsy can be expected.
CONCLUSIONS: • Excepting cardiac malformations, most major fetal body malformations can reliably be identified by prenatal US combined with post-mortem MRI. • In the post-mortem diagnosis of fetal body malformations, a conventional autopsy limited to the fetal heart might replace a full body autopsy after a well-conducted prenatal US and post-mortem MRI.