Cell-free DNA (cfDNA) screening for fetal aneuploidies is clinically available and exhibits better performance than conventional serum screening tests. However, data on the clinical performance of cfDNA screening in twin pregnancies are limited. In this review, we summarized the clinical performance and evaluated the feasibility of cfDNA screening in twin pregnancies based on recent studies and recommendations. The performance of cfDNA screening for trisomy 21 in twin pregnancies is similar to that in singleton pregnancies. Specifically, cfDNA screening has a higher detection rate and lower false-positive rate compared with conventional serum screening. Consequently, recent international guidelines from several academic communities have recommended that cfDNA screening for aneuploidy in twin pregnancies could be considered. Moreover, twin pregnancies can present with specific conditions, such as different zygosities and vanishing twins; therefore, individualized counseling and management are required. Further clinical studies with more twin pregnancies are required for a more accurate analysis.

Purpose: We assessed prenatal detection rates of congenital heart disease (CHD) and associations between maternal serum biomarkers and non-chromosomal CHD in singleton pregnancies. Materials and Methods: This study was conducted as a secondary analysis of data obtained during a multicenter prospective cohort study that investigated the cost-effectiveness of prenatal testing for fetal aneuploidy. We analyzed the prenatal detection rate and accuracy for CHD screening via ultrasound during the second trimester, as well as associations between serum biomarkers and CHDs, in singleton newborns without chromosomal abnormalities. Results: Among 6715 women, 142 (2.1%) newborns were born with CHDs, of which 67 (1.0%) newborns had major CHDs. The prenatal detection rate for all CHDs and major CHDs were 34.5% and 58.2%, respectively. After excluding isolated ventricular septal defects, the detection rate for critical CHDs was 85.9%. Women with low pregnancy-associated plasma protein A (PAPP-A) (<0.4 multiples of the median, MOM) face increased risks of non-chromosomal CHDs [adjusted odds ratio (aOR) 2.76; 95% confidence interval (CI) 1.36–5.13] and major CHDs (aOR 7.30; 95% CI 3.18–15.59), compared to those without CHDs. A higher inhibin A level (≥2.5 MOM; aOR 4.84; 95% CI 1.42–12.46) was associated with non-chromosomal major CHDs. Conclusion Ultrasonography performed during the second trimester by obstetricians detected over 85% of critical CHDs. Low maternal serum PAPP-A or high inhibin-A was associated with non-chromosomal CHDs. These results may contribute to an improvement in prenatal diagnosis of CHDs.

Purpose: We provide evidence for the reclassification of the BRCA1:c.5017_5019del variant by presenting the clinicopathological characteristics, clinical outcomes, and family history of breast or ovarian cancer in 17 patients with this variant. Methods: This study included breast or ovarian cancer patients tested for BRCA1/2 genes between January 2008 and June 2020 at 10 medical centers in Korea. We retrospectively reviewed 17 probands from 15 families who had the BRCA1:c.5017_5019del variant according to the electronic medical records. Results: We present 10 breast cancer patients and 7 ovarian cancer patients from 15 families identified as having BRCA1:c.5017_5019del and a total of 19 cases of breast cancer and 14 cases of ovarian cancer in these families. The ratio of breast-to-ovarian cancer was 1.3:1. Breast cancer patients with this variant showed a rich family history of breast or ovarian cancer, 8 patients (80.0%). The mean age at diagnosis was 45.4 years and 6 patients (60.0%) were categorized into hormone-receptor–negative breast cancer. Also, the ovarian cancer patients with this variant showed strong family histories of breast and/or ovarian cancer in 4 patients (57.1%). Conclusion We presented clinical evidence for the reclassification of BRCA1:c.5017_5019del as a likely pathogenic variant (LPV). Reclassification as LPV could result in the prophylactic treatment and medical surveillance of probands, family testing recommendations, and appropriate genetic counseling of their families.

Background: To determine the effects of Jerusalem Artichoke extract (JAE) and inulin on blood glucose levels and insulin secretion in streptozotocin (STZ)-induced diabetic mice.
Methods: Thirty four mice were divided into a normal control group and three experimental groups: diabetic control, JAE, and inulin. STZ (50 mg/kg) was injected intraperitoneally to induce diabetes in the three experimental groups. The JAE and inulin groups were fed 10 g/kg JAE or fed 1 g/kg inulin, respectively, for 6 weeks. Fasting glucose was checked weekly. After 6 weeks, the oral glucose tolerance test (OGTT) was performed, and the insulin level was checked.
Results: Four mice from the JAE group (n = 9) died and autopsies revealed inflammation and ulceration of skin lesions on the chest areas. Fasting glucose levels were not decreased in the inulin or JAE group relative to diabetic control group. In the OGTT at 60 minutes and 120 minutes, the serum glucose levels were significantly higher in the inulin group (572.6 ± 52.0 mg/dL and 555.8 ± 72.9 mg/dL, respectively) than in diabetic control group (484.3 ± 81.6 mg/dL and 467.3 ± 111.1 mg/dL, respectively). Insulin levels were not increased in the inulin group relative to the diabetic control group.
Conclusion These results indicate that JAE and inulin might not be useful therapeutic strategies for diabetes mellitus and indiscreet intake of Jerusalem Artichoke could exacerbate to diabetes.

OBJECTIVE: To investigate whether a computer-aided diagnosis (CAD) system based on a deep learning framework (deep learning-based CAD) improves the diagnostic performance of radiologists in differentiating between malignant and benign masses on breast ultrasound (US). MATERIALS AND METHODS: B-mode US images were prospectively obtained for 253 breast masses (173 benign, 80 malignant) in 226 consecutive patients. Breast mass US findings were retrospectively analyzed by deep learning-based CAD and four radiologists. In predicting malignancy, the CAD results were dichotomized (possibly benign vs. possibly malignant). The radiologists independently assessed Breast Imaging Reporting and Data System final assessments for two datasets (US images alone or with CAD). For each dataset, the radiologists' final assessments were classified as positive (category 4a or higher) and negative (category 3 or lower). The diagnostic performances of the radiologists for the two datasets (US alone vs. US with CAD) were compared. RESULTS: When the CAD results were added to the US images, the radiologists showed significant improvement in specificity (range of all radiologists for US alone vs. US with CAD: 72.8–92.5% vs. 82.1–93.1%; p < 0.001), accuracy (77.9–88.9% vs. 86.2–90.9%; p = 0.038), and positive predictive value (PPV) (60.2–83.3% vs. 70.4–85.2%; p = 0.001). However, there were no significant changes in sensitivity (81.3–88.8% vs. 86.3–95.0%; p = 0.120) and negative predictive value (91.4–93.5% vs. 92.9–97.3%; p = 0.259). CONCLUSION: Deep learning-based CAD could improve radiologists' diagnostic performance by increasing their specificity, accuracy, and PPV in differentiating between malignant and benign masses on breast US.
Breast ; Dataset ; Diagnosis ; Humans ; Information Systems ; Learning ; Prospective Studies ; Retrospective Studies ; Sensitivity and Specificity ; Ultrasonography ; Ultrasonography, Mammary

PURPOSE: This study aimed to investigate fetal ultrasonographic findings in cases of prenatally diagnosed de novo balanced translocations and the role of fetal ultrasound in prenatal genetic counseling. MATERIALS AND METHODS: We collected cases with de novo balanced translocations that were confirmed in chorionic villus sampling, amniocentesis, and cordocentesis between 1995 and 2016. A detailed, high-resolution ultrasonography was performed for prediction of prognosis. Chromosomes from the parents of affected fetuses were also analyzed to determine whether the balanced translocations were de novo or inherited. RESULTS: Among 32,070 cases with prenatal cytogenetic analysis, 27 cases (1/1,188 incidence) with de novo balanced translocations were identified. Fourteen cases (51.9%) showed abnormal findings, and the frequency of major structural anomalies was 11.1%. Excluding the major structural anomalies, all mothers who continued pregnancies delivered healthy babies. CONCLUSION: Results of a detailed, high-resolution ultrasound examination are very important in genetic counseling for prenatally diagnosed de novo balanced translocations.
Amniocentesis ; Chorionic Villi Sampling ; Cordocentesis ; Cytogenetic Analysis ; Female ; Fetus ; Genetic Counseling ; Humans ; Mothers ; Parents ; Pregnancy ; Prenatal Diagnosis ; Prognosis ; Translocation, Genetic ; Ultrasonography* ; Ultrasonography, Prenatal

PURPOSE: Transumbilical laparoscopic-assisted appendectomy (TULA) is a single incision technique that uses a combined intra- and extracorporeal method. The aim of this study was to compare surgical outcomes of TULA with conventional 3-port laparoscopic appendectomy (LA). METHODS: A retrospective review of medical records between 2010 and 2014 identified 303 pediatric patients who underwent LA with uncomplicated acute appendicitis. Of these, 85 patients underwent TULA and 218 patients underwent conventional LA. Demographic data, clinical characteristics, perioperative outcomes and postoperative complications were compared between the 2 groups. RESULTS: The mean operation time in the TULA group was 30.39 minutes, which was significantly shorter than that of the LA group (47.83 minutes) (P < 0.001). The first day of oral intake after surgery was earlier (1.05 days vs. 1.32 days; P < 0.001) and the length of hospital stay was also shorter (2.54 days vs. 3.22 days; P < 0.001) for the TULA group than the LA group. Furthermore, the postoperative complication rate was lower in the TULA group (1 of 85, 1.25%) compared to the LA group (19 of 218, 8.7%) (P = 0.018). CONCLUSION: In conclusion, TULA procedure is recommended for uncomplicated appendicitis in children due to its simplicity and better postoperative outcomes.
Appendectomy* ; Appendicitis* ; Child ; Humans ; Laparoscopy ; Length of Stay ; Medical Records ; Methods ; Postoperative Complications ; Retrospective Studies ; Umbilicus

PURPOSE: This study assessed the incidence and cancer rate of probably benign lesions detected on bilateral whole-breast screening ultrasound (US), which corresponded to US Breast Imaging Reporting and Data System (BI-RADS) category 3, and evaluated the proper management of those lesions. METHODS: This study was approved by the Institutional Review Board in our institution, which waived informed patient consent. We retrospectively reviewed US images of 1,666 patients who underwent bilateral whole-breast screening US as a supplemental screening test to negative screening mammography or screening US only. The incidence, clinical course, and cancer rate of screening US-detected probably benign lesions corresponding to US BI-RADS category 3 were investigated, and the size and multiplicity of screening US-detected category 3 lesions were evaluated. RESULTS: Probably benign lesions corresponding to US BI-RADS category 3 were detected in 689 of 1,666 patients (41.4%) who underwent screening US. Among them, 653 had follow-up US images for at least 24 months, and among these 653, 190 (29.1%) had multiple bilateral category 3 lesions. Moreover, 539 of 1,666 patients (32.4%) had lesions ≤1 cm in size and 114 of 1,666 (6.8%) had lesions >1 cm (median, 0.82 cm; range, 0.3–4.2 cm). Four of the 653 patients (0.6%) showed suspicious interval changes and were categorized into BI-RADS category 4. Biopsy analysis confirmed only one lesion as invasive ductal carcinoma at the 6-month follow-up; another lesion was an intraductal papilloma and the remaining two were fibroadenomas. Overall cancer rate of the screening US-detected BI-RADS category 3 lesions was 0.2%. CONCLUSION: The incidence of category 3 lesions detected on screening US only was very high, but the cancer rate was very low. Therefore, in an average-risk population, routine screening US is preferable over short-term follow-up for BI-RADS category 3 lesions detected on whole-breast screening US.
Biopsy ; Breast* ; Carcinoma, Ductal ; Ethics Committees, Research ; Fibroadenoma ; Follow-Up Studies ; Humans ; Incidence ; Information Systems* ; Mammography ; Mass Screening* ; Papilloma, Intraductal ; Retrospective Studies ; Ultrasonography*

PURPOSE: To show the results of an audit of screening breast ultrasound (US) in women with negative mammography in a single institution and to analyze US-detected cancers within a year and interval cancers. MATERIALS AND METHODS: During the year of 2006, 1974 women with negative mammography were screened with US in our screening center, and 1727 among them had pathologic results or any follow up breast examinations more than a year. We analyzed the distribution of Breast Imaging Reporting and Data System (BI-RADS) category and the performance outcome through follow up. RESULTS: Among 1727 women (age, 30-76 years, median 49.5 years), 1349 women (78.1%) showed dense breasts on mammography, 762 (44.1%) had previous breast US, and 25 women (1.4%) had a personal history of breast cancers. Test negatives were 94.2% (1.627/1727) [BI-RADS category 1 in 885 (51.2%), 2 in 742 (43.0%)]. The recall rate (=BI-RADS category 3, 4, 5) was 5.8%. Eight cancers were additionally detected with US (yield, 4.6 per 1000). The sensitivity, specificity, and positive predictive value (PPV1, PPV2) were 88.9%, 94.6%, 8.0%, and 28.0%, respectively. Eight of nine true positive cancers were stage I or in-situ cancers. One interval cancer was stage I cancer from BI-RADS category 2. CONCLUSION: Screening US detected 4.6 additional cancers among 1000. The recall rate was 5.8%, which is in lower bound of acceptable range of mammography (5-12%), according to American College of Radiology standard.
Adult ; Aged ; Breast/pathology ; Breast Neoplasms/*diagnosis/*radiography/*ultrasonography ; Female ; Humans ; Mammography/*methods ; Mass Screening/*methods ; Middle Aged ; Sensitivity and Specificity ; Ultrasonography/methods ; *Ultrasonography, Mammary

BACKGROUND AND OBJECTIVES: To classify the metastases to the thyroid gland arising from non-thyroidal malignancies on ultrasound (US). MATERIALS AND METHODS: We enrolled 45 consecutive patients with metastases to the thyroid gland from 2005 to 2012. We classified metastases into 4 types; type I: diffuse non-mass forming lesion, type II: a solitary suspicious nodule, type III: multiple suspicious nodules, and type IV: nodule(s) with no suspicion. We subcategorized type I into two subtypes; type IA: diffusely infiltrative lesion, type IB: diffuse micronodulation. RESULTS: The most frequent primary malignancy of thyroid metastases was lung cancer. The patients with thyroid metastases were 26 (57.8%) in type I; type IA: 16 (35.6%), type IB: 10 (22.2%), 14 (31.1%) in type II, 3 (6.7%) in type III and 2 (4.4%) in type IV. Type I metastasis included 18 of 25 patients with lung cancer and all 3 patients with stomach cancer. Thirty patients (73.3%) having type IA, II or III revealed malignant findings on US, in contrast, 12 (26.7%) patients having type IB or IV revealed no suspicious findings. CONCLUSION: Type I (diffuse non-mass forming lesion) was the most common in thyroid metastases. A quarter of thyroid metastases revealed no suspicious findings on US. Thyroid metastases can be considered as a differential diagnosis, when diffuse non-mass forming lesions or nodules with no suspicion are revealed on thyroid US.
Classification* ; Diagnosis, Differential ; Humans ; Lung Neoplasms ; Neoplasm Metastasis* ; Stomach Neoplasms ; Thyroid Gland* ; Ultrasonography