Ultrasonography (USG) is the primary method for antenatal fetal evaluation. However, fetal magnetic resonance imaging (MRI) has now become a valuable adjunct to USG in confirming/excluding suspected abnormalities and in the detection of additional abnormalities, thus changing the outcome of pregnancy and optimizing perinatal management. With the development of ultrafast sequences, fetal MRI has made remarkable progress in recent times. In this pictorial essay, we illustrate a spectrum of structural abnormalities affecting the central nervous system, thorax, genitourinary and gastrointestinal tract, as well as miscellaneous anomalies. Anomalies in twin gestations and placental abnormalities have also been included.
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http://dx.doi.org/10.4103/0971-3026.178326 | DOI Listing |
Childs Nerv Syst
January 2025
Division of Neurosurgery, Department of Surgery, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Purpose: We sought to evaluate the incidence, natural history, and management of cystic spinal lesions following myelomeningocele/myeloschisis closure.
Methods: We performed a single-center retrospective review of all patients who underwent myelomeningocele/myeloschisis closure from 2013 to 2018 with follow-up to 5 years old.
Results: We analyzed 100 fetal repairs and 81 postnatal closures from 305 total surgeries.
Ophthalmic Genet
January 2025
Department of Ophthalmology, Unidade de Saúde Local de São João, Porto, Portugal.
Purpose: We present the case of a newborn with right anophthalmia, left congenital cystic eye, and two novel variants in the gene. This report provides a comprehensive discussion of the clinical presentation, management strategies, and long-term follow-up for this rare condition.
Methods: A thorough ophthalmic examination was performed.
J Matern Fetal Neonatal Med
December 2025
Department of Obstetrics and Gynecology, The Affiliated Hospital of Qingdao University, Qingdao, China.
Objective: The objective of this study was to identify a novel gene and its potential mechanisms associated with susceptibility to gestational diabetes mellitus (GDM) through an integrative approach.
Methods: We analyzed data from genome-wide association studies (GWAS) of GDM in the FinnGen R11 dataset (16,802 GDM cases and 237,816 controls) and Genotype Tissue Expression v8 expression quantitative trait locus data. We used summary-data-based Mendelian randomization to determine associations between transcript levels and phenotypes, transcriptome-wide association studies to provide insights into gene-trait associations, multi-marker analysis of genomic annotation to perform gene-based analysis, genome-wide complex trait analysis-multivariate set-based association test-combo to determine gene prioritization, and polygenic priority scores to prioritize the causal genes to screen candidate genes.
Eur J Pediatr
January 2025
Neonatology Department. Hospital Sant Joan de Déu, Center for Maternal Fetal and Neonatal Medicine. Neonatal Brain Group, Universitat de Barcelona. Hospital Clínic, Universitat de Barcelona. BCNatal - Barcelona, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.
Purpose: Perinatal hypoxic-ischemic encephalopathy (HIE) is a significant cause of neonatal brain injury. Therapeutic hypothermia (TH) is the standard treatment for term neonates, but its safety and efficacy in neonates < 36 weeks gestational age (GA) remains unclear. This case series aimed to evaluate the outcomes of preterm infants with HIE treated with TH.
View Article and Find Full Text PDFCureus
December 2024
Obstetrics and Gynecology, Kitasato University School of Medicine, Sagamihara, JPN.
Emphysematous pyelonephritis (EPN) is a urinary tract infection progression characterized by gas retention in the renal tissues and a high mortality rate, but few cases have been reported. In this study, we present a 32-year-old primigravida with type 2 diabetes mellitus and a history of pyelonephritis who developed pyelonephritis at 29 weeks. Antimicrobial therapy was initiated; however, her clinical symptoms worsened.
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