Non-invasive prenatal testing (NIPT) based on fetal free DNA is a non-invasive technique to screen for common fetal aneuploidies by analyzing cell-free fetal DNA (cffDNA) in the peripheral blood of pregnant women. This technique has opened a new era of prenatal screening for its high safety and reliability. In recent years, it has been shown that NIPT can not only screen for fetal aneuploidies, but may also reveal maternal genomic abnormalities. The incidental detection of maternal tumors has aroused widespread concern in the clinical settings. The aim of this review is to systematically summarize the research progress of NIPT technique in incidental detection of maternal tumors, and to discuss its clinical significance, technical challenges, and future development direction. It has been found that multiple chromosome aneuploidies (MCAs) in NIPT detection is one of the important biomarkers suggesting occult maternal malignant tumors. In this paper, the relevant progress of NIPT technique in the incidental discovery of maternal tumors were reviewed in order to provide a reference for individualized and standardized application of NIPT technique in maternal health monitoring.
Humans ; Female ; Pregnancy ; Cell-Free Nucleic Acids/blood* ; Prenatal Diagnosis/methods* ; Incidental Findings ; Neoplasms/genetics* ; Noninvasive Prenatal Testing/methods* ; Aneuploidy ; Fetus/metabolism*

The temporomandibular joint (TMJ) is frequently imaged in head and neck computed tomography (CT) and magnetic resonance imaging (MRI) studies. Depending on the indication for the study, an abnormality of the TMJ may be an incidental finding. These findings encompass both intra- and extra-articular disorders. They may also be related to local, regional or systemic conditions. Familiarity with these findings along with pertinent clinical information helps narrow the list of differential diagnoses. While definitive diagnosis may not be immediately apparent, a systematic approach contributes to improved discussions between clinicians and radiologists and better patient management.
Humans ; Temporomandibular Joint Disorders/pathology* ; Incidental Findings ; Temporomandibular Joint/pathology* ; Tomography, X-Ray Computed ; Magnetic Resonance Imaging

COVID-19 ; Carcinoma, Squamous Cell ; Humans ; Incidental Findings ; Pandemics ; Rhinitis ; SARS-CoV-2

Abdominal Pain ; Adult ; Appetite ; Child ; Deglutition Disorders ; Diagnosis ; Endoscopy ; Gastritis ; Helicobacter pylori ; Histiocytes ; Humans ; Incidental Findings ; Male ; Nausea ; Pediatrics ; Stomach Neoplasms ; Vomiting ; Xanthomatosis

OBJECTIVE: To discuss the value of chromosomal microarray analysis (CMA) for the identification of DMD gene deletions during prenatal diagnosis. METHODS: G-banded karyotyping and CMA were performed on fetuses with ultrasonographic soft markers but no family history for Duchenne/Becker muscular dystrophy (DMD/BMD). Denaturing high-performance liquid chromatograghy (DHPLC) was used to detect DMD gene mutations in umbilical cord blood and peripheral blood samples from the mothers. RESULTS: For fetus 1, analysis of amniocytes showed a normal karyotype, while CMA detected a 119 kb deletion at Xp21.1 (32 565 489 - 32 681 461), which encompassed exons 10 to 16 of the DMD gene. The result was confirmed by DHPLC analysis. The mother was found to have loss of heterozygosity in the same region. For fetus 2, karyotyping of amniocytes also showed a normal male karyotype, while CMA detected a 254 kb deletion at Xp21.1 (32 104 604 - 32 358 874), which encompassed exons 41 to 44 of the DMD gene. The same deletion was not detected in the mother. DHPLC analysis confirmed the presence of both deletions. CONCLUSION Two fetuses harboring DMD gene deletions but without a family history were discovered. CMA can improve the efficiency for detecting single gene diseases caused by deletions.
Dystrophin ; genetics ; Exons ; Female ; Fetus ; Gene Deletion ; Humans ; Incidental Findings ; Male ; Microarray Analysis ; Muscular Dystrophy, Duchenne ; genetics ; Pregnancy

PURPOSE: To determine whether calcified carotid atherosclerotic plaques (CCAPs) and mineralized laryngeal cartilages (MLCs) were more frequently detected on digital or film-based panoramic radiographs. The clinical relevance of this question is that some radiopacities seen on digital radiographs may correspond to medium-density tissues that are not necessarily mineralized. MATERIALS AND METHODS: Data were collected from panoramic radiographs and the respective reports issued by 2 private oral radiology centers. A total of 388 radiographs and reports were divided into film-based (group A) and digital (group D) radiographs. The frequencies of CCAPs and MLCs were analyzed using the Fisher exact test, and odds ratios were also calculated (α=1%). RESULTS: The mean age of patients whose reports and radiographs showed CCAPs and/or MLCs ranged from 50.1 to 54.1 years. There was a predominance of females. A higher frequency of CCAPs and MLCs was observed in group D than in group A at both centers (P<0.01). CCAPs and MLCs were detected 4 times more frequently in group D than in group A at one of the centers. CONCLUSION: CCAPs and MLCs were more frequently detected on digital than on film-based panoramic radiographs. Further studies are needed to determine whether such radiopacities do indeed correspond to mineralized, rather than medium-density, tissues.
Atherosclerosis ; Female ; Humans ; Incidental Findings ; Laryngeal Cartilages ; Miners ; Odds Ratio ; Plaque, Atherosclerotic ; Radiography, Dental, Digital ; Radiography, Panoramic

Castleman disease is a relatively rare disease, characterized by well-circumscribed benign lymph-node hyperplasia. The disease may develop anywhere in the lymphatic system, but is most commonly reported as unicentric Castleman disease in the mediastinum along the tracheobronchial tree. It is usually asymptomatic and detected on plain chest radiography as an incidental finding. We report an incidentally detected case of Castleman disease in the paravertebral space that was preoperatively diagnosed as a neurogenic tumor and treated by complete surgical resection.
Giant Lymph Node Hyperplasia ; Hyperplasia ; Incidental Findings ; Lymphatic System ; Mediastinal Neoplasms ; Mediastinum ; Radiography ; Rare Diseases ; Thorax ; Trees

OBJECTIVE: To assess the clinical usefulness and diagnostic accuracy of ultrasonographic measurement of endometrial thickness (ET) in women with endometrial hyperplasia or cancer (EH+). METHODS: This retrospective cohort study included 29,995 consecutive women who underwent transvaginal ultrasonography (TVS) for an incidental finding of a thickened endometrium at the health screening and promotion center at Asan Medical Center between 2006 and 2010. Among 959 patients with endometrial abnormalities, 92 patients were included in this study. A total of 867 patients were excluded: 416 were lost to follow-up; 263 did not undergo endometrial biopsy; 155 had endometrial polyps; 17 had submucosal myomas; and 16 had insufficient tissue samples. Endometrial histology was the reference standard for calculating accuracy. RESULTS: Of the 92 patients, 78 (84.8%) had normal pathology, while 14 (15.2%) had endometrial pathology (EH+), including 5 patients (35.7%) with simple hyperplasia without atypia, 3 (21.4%) with complex hyperplasia, and 6 (42.9%) with endometrial carcinoma, all stage Ia. The area under the receiver-operating characteristic curve was 0.75 (95% confidence interval [CI], 0.593–0.906). The cut-off value for ET was 8 mm, indicating that TVS ET had a fair accuracy in diagnosing carcinoma, had a sensitivity of 100% (95% CI, 62.9–100.0%) and a specificity of 24.3% (95% CI, 15.2–36.3%). CONCLUSION: TVS is useful for detecting EH+, with a cut-off value for ET of 8 mm having a high sensitivity for detecting endometrial pathologies and the ability to identify women highly unlikely to have EH+, thereby avoiding more invasive endometrial biopsy.
Biopsy ; Chungcheongnam-do ; Cohort Studies ; Diagnosis ; Endometrial Hyperplasia ; Endometrial Neoplasms ; Endometrium ; Female ; Humans ; Hyperplasia ; Incidental Findings ; Lost to Follow-Up ; Mass Screening ; Myoma ; Pathology ; Polyps ; Retrospective Studies ; Sensitivity and Specificity ; Ultrasonography

OBJECTIVE: Pituitary adenomas (PAs) are often detected as incidental findings. However, the natural history remains unclear. The objective of this study was to evaluate the natural history and growth pattern of untreated PAs.METHODS: Between 2003 and 2014, 59 PAs were managed with clinico-radiological follow up for longer than 12 months without any kind of therapeutic intervention. Tumor volumes were calculated at initial and last follow-up visit, and tumor growth during the observation period was determined. Data were analyzed according to clinical and imaging characteristics.RESULTS: The mean initial and last tumor volume and diameter were 1.83±2.97 mL and 13.77±6.45 mm, 2.85±4.47 mL and 15.75±8.08 mm, respectively. The mean annual tumor growth rate was 0.33±0.68 mL/year during a mean observation period of 46.8±32.1 months. Sixteen (27%) PAs showed tumor growth. The initial tumor size (HR, 1.140; 95% confidence interval, 1.003–1.295; p=0.045) was the independent predictive factor that determined the tumor growth. Six patients (11%) of 56 conservatively managed non-symptomatic PAs underwent resection for aggravating visual symptoms with mean interval of 34.5 months from diagnosis. By Cox regression analysis, PAs of last longest diameter over 21.75 mm were a significant prognostic factor for eventual treatment.CONCLUSION: The initial tumor size of PAs was independently associated with the tumor growth. Six patients (11%) of conservatively managed PAs were likely to be treated eventually. PAs of last follow-up longest diameter over 21.75 mm were a significant prognostic factor for treatment. Further studies with a large series are required to determine treatment strategy.
Diagnosis ; Follow-Up Studies ; Humans ; Incidental Findings ; Natural History ; Pituitary Neoplasms ; Prognosis ; Tumor Burden

Jugular bulb diverticulum is an irregular extension of the jugular bulb into the temporal bone that may be symptomatic or asymptomatic. The jugular bulb has rarely been reported to extend into the occipital condyle; such extension is termed a condylar jugular diverticulum and is characterized as a defect in the occipital condyle contiguous with the jugular bulb. This report details 3 cases of condylar jugular diverticulum. Extension of the jugular bulb into the ipsilateral occipital condyle was noted as an incidental finding on cone-beam computed tomographic (CBCT) images of 3 patients. All 3 patients were asymptomatic, and this finding was unrelated to the initial area of interest. CBCT use is becoming ubiquitous in dentistry, as it allows 3-dimensional evaluation, unlike conventional radiography. Proper interpretation of the entire CBCT is essential, and recognition of the indicators of condylar jugular diverticulum may prevent misdiagnosis of this rare entity.
Cone-Beam Computed Tomography ; Dentistry ; Diagnostic Errors ; Diverticulum ; Growth and Development ; Humans ; Incidental Findings ; Jugular Veins ; Radiography ; Temporal Bone