Although teratomas are the most common tumors in the testes of prepubertal children, prenatally detected testicular teratomas are extremely rare. To date, only 6 cases of prenatally detected testicular teratomas have been reported in the English literature. An intra-abdominal mass and an ipsilateral undescended testis were confirmed after birth in all 6 cases. Preservation of testicular tissue was not performed in any case. Herein, we report the first case of prenatally diagnosed intrascrotal testicular teratoma in an infant who underwent testis sparing surgery.
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http://dx.doi.org/10.1016/j.urology.2022.09.025 | DOI Listing |
Prenat Diagn
January 2025
Discipline of Women's Health, University of New South Wales, Randwick, Australia.
Introduction: Genome-wide non-invasive prenatal testing (gwNIPT) has screening limitations for detectable genetic conditions and cannot detect microdeletions/microduplications (MD) or triploidy. Nuchal translucency (NT) increases with gestation and with genetic or structural abnormalities. This study aims to determine the utility of NT measurement in detecting genetic abnormalities not identified by gwNIPT and the optimal NT threshold value.
View Article and Find Full Text PDFPrenat Diagn
January 2025
Department of Biomedical Imaging and Image-Guided Therapy, Medical University of Vienna, Vienna, Austria.
Objective: To apply a network medicine-based approach to analyze the phenome of the prenatal fetal MRI and biometric findings in the Chiari II malformation (CM II) to detect specific patterns and co-occurrences.
Method: A single-center retrospective review of fetal MRI scans obtained in fetuses with CM II was performed. Co-occurrence analysis was utilized to generate a phenotypic comorbidity matrix and visualized by Gephi software.
Sci Rep
January 2025
Department of Prenatal Diagnosis, The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, China.
Early missed abortion is defined as a pregnancy of ≤ 12 weeks in which there is a cessation of life in the developing embryo or fetus, leading to its retention within the uterine cavity without being spontaneously expelled promptly. This condition is commonly observed and significantly impacts human reproductive health. This study aimed to identify key genes related to ferroptosis that could serve as novel biomarkers for early missed abortion.
View Article and Find Full Text PDFSouth Med J
January 2025
Department of Obstetrics and Gynecology, East Tennessee State University, Johnson City.
Objectives: In this study, buprenorphine was the primary source of maternal opioid exposure at the time of initial prenatal evaluation. Current recommendations advise that level II ultrasounds be performed in patients with substance use disorders. For some patients, distance, transportation, and costs associated with obtaining ultrasounds from a specialist pose significant barriers.
View Article and Find Full Text PDFClin Chem
January 2025
Department of Obstetrics & Gynaecology, The Chinese University of Hong Kong, Hong Kong SAR, China.
Background: Mate-pair sequencing detects both balanced and unbalanced structural variants (SVs) and simultaneously informs in relation to both genomic location and orientation of SVs for enhanced variant classification and clinical interpretation, while chromosomal microarray analysis (CMA) only reports deletion/duplication. Herein, we evaluated its diagnostic utility in a prospective back-to-back prenatal comparative study with CMA.
Methods: From October 2021 to September 2023, 426 fetuses with ultrasound anomalies were prospectively recruited for mate-pair sequencing and CMA in parallel for prenatal genetic diagnosis.
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