1.Incidental findings from cell-free fetal DNA-based non-invasive prenatal testing: Research progress on maternal tumors.
Zhuangping ZHANG ; Xinni SHU ; Yaping HOU
Chinese Journal of Medical Genetics 2026;43(4):301-306
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*
2.Incidental findings involving the temporomandibular joint on computed tomography and magnetic resonance imaging.
Samuel Chuan Xian LAU ; Li Zhen LIM ; James Thomas Patrick Decourcy HALLINAN ; Andrew MAKMUR
Singapore medical journal 2023;64(4):262-270
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
4.Gastric Xanthoma in the Pediatric Population: A Possible Herald for Malignancy?
Joseph D RUSSELL ; Jacquelin PECK ; Claudia PHEN ; Janna L LINEHAN ; Sara KARJOO ; Johnny NGUYEN ; Michael J WILSEY
Pediatric Gastroenterology, Hepatology & Nutrition 2020;23(1):110-114
incidental finding on upper endoscopy in adults. Gastric xanthomas (GX) can be mistaken for malignancies and warrant prompt histologic diagnosis. The underlying etiology is not fully understood; however, it has been linked to Helicobacter pylori gastritis and gastric cancer. GX in the pediatric population is largely unreported in the literature. Because of the relative rarity, documentation with case reports are essential to provide as much data as possible to see if there is a correlation between GX and malignant potential in the pediatric population. Our group is reporting two cases, a 10-year-old male and a 7-year-old male, both who presented with chronic dysphagia, upper abdominal pain, nausea, vomiting, and loss of appetite. Upper endoscopies for both patients revealed small polypoid lesions located in the antrum with foamy histiocytes on histology, leading to the diagnosis of gastric xanthoma.]]>
Abdominal Pain
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Adult
;
Appetite
;
Child
;
Deglutition Disorders
;
Diagnosis
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Endoscopy
;
Gastritis
;
Helicobacter pylori
;
Histiocytes
;
Humans
;
Incidental Findings
;
Male
;
Nausea
;
Pediatrics
;
Stomach Neoplasms
;
Vomiting
;
Xanthomatosis
5.Condylar jugular diverticulum: A report of 3 cases
Rohan JAGTAP ; Taggreed WAZZAN ; Matthew HANSEN ; Deeba KASHTWARI
Imaging Science in Dentistry 2019;49(3):251-256
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
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Dentistry
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Diagnostic Errors
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Diverticulum
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Growth and Development
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Humans
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Incidental Findings
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Jugular Veins
;
Radiography
;
Temporal Bone
6.Cerebral Microbleed Induced Seizure Misdiagnosed with Transient Ischemic Attack
Jun Yeong HONG ; Yuseok KIM ; Yong Duk KIM ; Sang Jun NA ; Soo Hwan YIM
Journal of the Korean Neurological Association 2019;37(4):396-399
Diagnosis of transient ischemic attack has been entirely dependent on the clinical history due to the absence of brain magnetic resonance imaging lesion. It is challenging to distinguish between transient ischemic attack and transient ischemic attack-mimics. Cerebral microbleeds would be found in 11.1–23.5% of incidental findings in elderly population. However, cerebral microbleeds have been known to lead to cognitive decline, dementia, seizure and even status epilepticus. We report a case of cerebral microbleeds induced epileptic seizure, visiting the emergency room with sudden onset unilateral motor weakness.
Aged
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Brain
;
Dementia
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Diagnosis
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Emergency Service, Hospital
;
Epilepsy
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Humans
;
Incidental Findings
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Ischemic Attack, Transient
;
Magnetic Resonance Imaging
;
Seizures
;
Status Epilepticus
7.More frequent detection of calcified carotid atherosclerotic plaques and mineralized laryngeal cartilages on digital than on film-based panoramic radiographs
Sergio Lins DE-AZEVEDO-VAZ ; João Victor Pereira MACHADO ; Teresa Cristina Rangel PEREIRA ; Deborah Queiroz FREITAS
Imaging Science in Dentistry 2019;49(1):65-70
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
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Female
;
Humans
;
Incidental Findings
;
Laryngeal Cartilages
;
Miners
;
Odds Ratio
;
Plaque, Atherosclerotic
;
Radiography, Dental, Digital
;
Radiography, Panoramic
8.Incidental discovery of DMD gene deletions by chromosomal microarray analysis.
Tingting SONG ; Yu LI ; Ying XU ; Yinghui DANG ; Shanning WAN ; Yunyun ZHENG ; Jianfang ZHANG
Chinese Journal of Medical Genetics 2019;36(8):773-776
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
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genetics
;
Exons
;
Female
;
Fetus
;
Gene Deletion
;
Humans
;
Incidental Findings
;
Male
;
Microarray Analysis
;
Muscular Dystrophy, Duchenne
;
genetics
;
Pregnancy
9.Development of Castleman Disease in the Paravertebral Space Mimicking a Neurogenic Tumor
Yu Jin KWAK ; Samina PARK ; Chang Hyun KANG ; Young Tae KIM ; In Kyu PARK
The Korean Journal of Thoracic and Cardiovascular Surgery 2019;52(1):51-54
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
10.Endometrial thickness cut-off value by transvaginal ultrasonography for screening of endometrial pathology in premenopausal and postmenopausal women
Yu Ran PARK ; Shin Wha LEE ; Yeongsin KIM ; In Young BAE ; Hong Kyu KIM ; Jaewon CHOE ; Yong Man KIM
Obstetrics & Gynecology Science 2019;62(6):445-453
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

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