Congenital chloride diarrhea (CCD) is a rare but significant genetic disorder characterized by severe electrolyte imbalances resulting from impaired intestinal chloride absorption. Affected children experience persistent diarrhea, dehydration, and malnutrition, complicating medical and developmental care. The enhancement of prenatal detection is crucial for improved patient management, early interventions, and informed genetic counseling. However, despite advancements in medicine, the complex nature and rarity of CCD make prenatal detection challenging. In this study, we report a fetal case where prenatal magnetic resonance imaging (MRI) effectively identified the distinctive characteristics of CCD, providing insights into the complexities of diagnosis and suggesting avenues for enhanced early detection strategies.
La clorhidrorrea congénita es un trastorno genético infrecuente pero importante caracterizado por una alteración grave del balance hidroelectrolítico como resultado de un defecto en la absorción intestinal de cloruros. Los niños afectados presentan diarrea persistente, deshidratación y malnutrición; el control médico y del desarrollo son complejos. Mejorar la detección prenatal es esencial para facilitar la atención del paciente, las intervenciones tempranas y el asesoramiento genético informado. Sin embargo, a pesar de los avances de la medicina, la naturaleza compleja y la escasa frecuencia de esta entidad, constituyen un desafío para la detección prenatal. En este estudio, se reporta el caso de una embarazada donde los estudios por imágenes de resonancia magnética fetales identificaron en forma efectiva las características típicas de la clorhidrorrea congénita. Se proveen conocimientos sobre las complejidades del diagnóstico y se sugieren caminos para las estrategias de detección temprana de esta enfermedad.

UNASSIGNED: Fetal MRI has played an essential role in the evaluation and management of congenital diaphragmatic hernia (CDH). We aimed to investigate whether the mediastinal shift angle (MSA) value was associated with the prognosis and the severity of left CDH and explore the relationship between the MSA value and fetal and neonatal cardiac structures and functions.
UNASSIGNED: From January 2012 to December 2020, the fetal MSA values of left CDH in our institution were retrospectively measured. Other prenatal parameters and clinical outcomes of them are collected. We also measured the fetal and postnatal echocardiography parameters to analyze linear correlation with MSA values.
UNASSIGNED: A total of 94 patients with left CDH were included. MSA was significantly higher in the deceased group than in the survived group [((38.3 ± 4.7)° vs. 32.3 ± 5.3)°, p < 0.001]. The MSA value of the high-risk defect group [CDH Study Group (CDHSG) C/D type] was significantly higher than that of the low-risk defect group [CDHSG A/B type; (36.0 ± 4.9)° vs. (30.1 ± 4.8)°, p < 0.001]. The AUC for severity was 0.766 (95% CI, 0.661-0.851, p < 0.0001) and the best cut-off value for MSA was 30.7°. Higher MSA correlates with decreased fetal Z-score of left ventricle (LV) width, the diameter of the mitral valve (MV), peak velocity of MV and tricuspid valve (TV), and neonatal LV end-diastolic diameter (LVEDD) and velocity of tricuspid regurgitation (TR; p < 0.05).
UNASSIGNED: A high MSA value can effectively predict high-risk defects and high mortality of left CDH. The higher the MSA value, the worse the neonatal conditions, the respiratory and cardiovascular prognosis. The MSA values could reflect the level of left heart underdevelopment, including decreased dimensions and diastolic dysfunction of the left ventricle.

In magnetic resonance (MR) fetal imaging, the image quality acquired by the traditional Cartesian-sampled breath-hold T1-weighted (T1W) sequence may be degraded by motion artifacts arising from both mother and fetus. The radial VIBE sequence is reported to be a viable alternative to conventional Cartesian acquisition for both pediatric and adult MR, yielding better image quality. This study evaluated the role of radial VIBE in fetal MR imaging and compared its image quality and motion artifacts with those of the Cartesian T1W sequence.
We included 246 pregnant women with 50 lesions on 1.5-T MR imaging. Image quality and lesion conspicuity were evaluated by two radiologists, blinded to the acquisition schemes used, using a five-point scale, where a higher score indicated a better trajectory method. Mixed-model analysis of variance and interobserver variability assessment were performed.
The radial VIBE sequence showed a significantly better performance than conventional T1W imaging in the head and neck, fetal body, and placenta region: 3.92 ± 0.88 vs 3 ± 0.74, p < 0.001, 3.8 ± 0.94 vs 3.15 ± 0.87, p < 0.001, and 4.17 ± 0.63 vs 3.12 ± 0.72, p < 0.001, respectively. Additionally, fewer motion artifacts were observed in all regions with the radial VIBE sequence (p < 0.01). Of 50 lesions, 49 presented better lesion conspicuity on radial VIBE images than on T1W images (4.34 ± 0.91 vs 3.48 ± 1.46, p < 0.001).
For fetal imaging, the radial VIBE sequences yielded better image quality and lesion conspicuity, with fewer motion artifacts, than conventional breath-hold Cartesian-sampled T1W sequences.